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Preview: MedWorm: Genetics

MedWorm: Genetics provides a medical RSS filtering service. Over 7000 RSS medical sources are combined and output via different filters. This feed contains the latest news and research in Genetics

Last Build Date: Mon, 28 Mar 2016 03:24:22 +0100


Recent Advances in Elucidating Nematode Moulting - Prospects of Using Oesophagostomum dentatum as a Model.

Sun, 27 Mar 2016 23:51:02 +0100

Authors: Ondrovics M, Gasser RB, Joachim A Abstract There are major gaps in our knowledge of many molecular biological processes that take place during the development of parasitic nematodes, in spite of the fact that understanding such processes could lead to new ways of treating and controlling parasitic diseases via the disruption of one or more biological pathways in the parasites. Progress in genomics, transcriptomics, proteomics and bioinformatics now provides unique opportunities to investigate the molecular basis of key developmental processes in parasitic nematodes. The porcine nodule worm, Oesophagostomum dentatum, represents a large order (Strongylida) of socioeconomically important nematodes, and provides a useful platform for exploring molecular developmental processes...

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IL-6 Overexpression in ERG-Positive Prostate Cancer Is Mediated by Prostaglandin Receptor EP2.

Sun, 27 Mar 2016 18:55:02 +0100

Authors: Merz C, von Mässenhausen A, Queisser A, Vogel W, Andrén O, Kirfel J, Duensing S, Perner S, Nowak M Abstract Prostate cancer is the most diagnosed cancer in men and multiple risk factors and genetic alterations have been described. The TMPRSS2-ERG fusion event and the overexpression of the transcription factor ERG are present in approximately 50% of all prostate cancer patients, however, the clinical outcome is still controversial. Prostate tumors produce various soluble factors, including the pleiotropic cytokine IL-6, regulating cellular processes such as proliferation and metastatic segregation. Here, we used prostatectomy samples in a tissue microarray format and analyzed the co-expression and the clinicopathologic data of ERG and IL-6 using immunohistochemical double...

The Dualistic Model of Ovarian Carcinogenesis: Revisited, Revised, and Expanded.

Sun, 27 Mar 2016 18:55:02 +0100

Authors: Kurman RJ, Shih IeM Abstract Since our proposal of a dualistic model of epithelial ovarian carcinogenesis more than a decade ago, a large number of molecular and histopathologic studies were published that have provided important insights into the origin and molecular pathogenesis of this disease. This has required that the original model be revised and expanded to incorporate these findings. The new model divides type I tumors into three groups: i) endometriosis-related tumors that include endometrioid, clear cell, and seromucinous carcinomas; ii) low-grade serous carcinomas; and iii) mucinous carcinomas and malignant Brenner tumors. As in the previous model, type II tumors are composed, for the most part, of high-grade serous carcinomas that can be further subdivided in...

Assessment of Aortic Elasticity in Patients with Celiac Disease.

Sun, 27 Mar 2016 13:03:02 +0100

CONCLUSION: Patients with CD had increased aortic stiffness and decreased aortic distensibility. Gluten-free diet enabled the patients with CD to have a reduction in the inflammatory parameters whereas the absence of a significant difference in the elastic properties of the aorta may suggest that the risk of cardiovascular disease persists in this patient group despite a gluten-free diet. PMID: 27014355 [PubMed] (Source: Korean Circulation Journal)

Hypertriglyceridemia and Cardiovascular Diseases: Revisited.

Sun, 27 Mar 2016 13:03:02 +0100

Authors: Han SH, Nicholls SJ, Sakuma I, Zhao D, Koh KK Abstract Residual cardiovascular risk and failure of high density lipoprotein cholesterol raising treatment have refocused interest on targeting hypertriglyceridemia. Hypertriglyceridemia, triglyceride-rich lipoproteins, and remnant cholesterol have demonstrated to be important risk factors for cardiovascular disease; this has been demonstrated in experimental, genetic, and epidemiological studies. Fibrates can reduce cardiovascular event rates with or without statins. High dose omega-3 fatty acids continue to be evaluated and new specialized targeting treatment modulating triglyceride pathways, such as inhibition of apolipoprotein C-III and angiopoietin-like proteins, are being tested with regard to their effects on lipid prof...

High-altitude Pulmonary Hypertension: an Update on Disease Pathogenesis and Management.

Sun, 27 Mar 2016 13:00:02 +0100

Authors: Mirrakhimov AE, Strohl KP Abstract High-altitude pulmonary hypertension (HAPH) affects individuals residing at altitudes of 2,500 meters and higher. Numerous pathogenic variables play a role in disease inception and progression and include low oxygen concentration in inspired air, vasculopathy, and metabolic abnormalities. Since HAPH affects only some people living at high altitude genetic factors play a significant role in its pathogenesis. The clinical presentation of HAPH is nonspecific and includes fatigue, shortness of breath, cognitive deficits, cough, and in advanced cases hepatosplenomegaly and overt right-sided heart failure. A thorough history is important and should include a search for additional risk factors for lung disease and pulmonary hypertension (PH) suc...

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Lifelong widespread warts associated with human papillomavirus type 70/85: a new diagnostic entity?

Sun, 27 Mar 2016 12:33:04 +0100

We present a patient with HPV 70/85-positive widespread cutaneous warts characterized by clinical and histological features atypical for classic generalized verrucosis or epidermodysplasia verruciformis. The cutaneous HPV infection is characterized by verrucous papules or plaques variable in size, number, and distribution depending on the genotype of HPV involved and the immune status of the patient. Human papillomaviruses comprise five genera (alpha, beta, gamma, mu, and nu papillomavirus) with different life-cycle characteristics, epithelial tropisms, and disease associations. Epidermodysplasia verruciformis (EV) is a rare, lifelong, autosomal recessive skin disease characterized by persistent cutaneous human papillomavirus infection not necessarily associated with immune system defects...

Genetic Analysis as a Practical Tool for Diagnosis of Hereditary Angioedema With Normal C1 Inhibitor: A Case Report.

Sun, 27 Mar 2016 09:51:02 +0100

Authors: Moreno AS, Maia LS, Palhas PB, Dias MM, Muglia VF, Castelli EC, Bork K, Arruda LK PMID: 27012020 [PubMed - in process] (Source: Journal of Investigational Allergology and Clinical Immunology)

Putin: Human evolution under big threat from GMOs, vaccines

Sun, 27 Mar 2016 06:00:00 +0100

(NaturalNews) Those who support vaccine choice and oppose genetically modifying our food chain have an unlikely ally: Russian President Vladimir Putin.As reported by the Health Freedom Alliance, a report that was prepared by the Russian Security Council (SCRF), a report which... (Source:

Molecular insights into the OGG1 gene, a cancer risk modifier in BRCA1 and BRCA2 mutations carriers.

Sun, 27 Mar 2016 05:28:02 +0100

Authors: Benitez-Buelga C, Vaclová T, Ferreira S, Urioste M, Inglada-Perez L, Soberón N, Blasco MA, Osorio A, Benitez J Abstract We have recently shown that rs2304277 variant in the OGG1 glycosidase gene of the Base Excision Repair pathway can increase ovarian cancer risk in BRCA1 mutation carriers. In the present study, we aimed to explore the role of this genetic variant on different genome instability hallmarks to explain its association with cancer risk.We have evaluated the effect of this polymorphism on OGG1 transcriptional regulation and its contribution to telomere shortening and DNA damage accumulation. For that, we have used a series of 89 BRCA1 and BRCA2 mutation carriers, 74 BRCAX cases, 60 non-carrier controls and 23 lymphoblastoid cell lines (LCL) derived from BRCA1...

The retinoblastoma protein regulates hypoxia-inducible genetic programs, tumor cell invasiveness and neuroendocrine differentiation in prostate cancer cells.

Sun, 27 Mar 2016 05:28:02 +0100

In this report, we further characterized the role Rb plays in mediating hypoxia-regulated genetic programs by stably ablating Rb expression with retrovirally-introduced short hairpin RNA in LNCaP and 22Rv1 human prostate cancer cells. DNA microarray analysis revealed that loss of Rb in conjunction with hypoxia leads to aberrant expression of hypoxia-regulated genetic programs that increase cell invasion and promote neuroendocrine differentiation. For the first time, we have established a direct link between hypoxic tumor environments, Rb inactivation and progression to late stage metastatic neuroendocrine prostate cancer. Understanding the molecular pathways responsible for progression of benign prostate tumors to metastasized and lethal forms will aid in the development of more effective ...

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Oxidative stress at low levels can induce clustered DNA lesions leading to NHEJ mediated mutations.

Sun, 27 Mar 2016 05:28:02 +0100

Authors: Sharma V, Collins LB, Chen TH, Herr N, Takeda S, Sun W, Swenberg JA, Nakamura J Abstract DNA damage and mutations induced by oxidative stress are associated with various different human pathologies including cancer. The facts that most human tumors are characterized by large genome rearrangements and glutathione depletion in mice results in deletions in DNA suggest that reactive oxygen species (ROS) may cause gene and chromosome mutations through DNA double strand breaks (DSBs). However, the generation of DSBs at low levels of ROS is still controversial. In the present study, we show that H2O2 at biologically-relevant levels causes a marked increase in oxidative clustered DNA lesions (OCDLs) with a significant elevation of replication-independent DSBs. Although it is frequ...

A comprehensive repertoire of tRNA-derived fragments in prostate cancer.

Sun, 27 Mar 2016 05:28:02 +0100

This study provides a systematic catalogue of tRFs and their dysregulation in PCa and can serve as the basis for further research on the biomarker potential and functional roles of tRFs in this disease. PMID: 27015120 [PubMed - as supplied by publisher] (Source: Oncotarget)

Mitochondrial reactive oxygen species-mediated NLRP3 inflammasome activation contributes to aldosterone-induced renal tubular cells injury.

Sun, 27 Mar 2016 05:28:02 +0100

Authors: Ding W, Guo H, Xu C, Wang B, Zhang M, Ding F Abstract Aldosterone (Aldo) is an independent risk factor for chronic kidney disease (CKD), and although Aldo directly induces renal tubular cell injury, the underlying mechanisms remain unclear. NLRP3 inflammasome and mitochondrial reactive oxygen species (ROS) have recently been implicated in various kinds of CKD. The present study hypothesized that mitochondrial ROS and NLRP3 inflammasome mediated Aldo-induced tubular cell injury. The NLRP3 inflammasome is induced by Aldo in a dose- and time-dependent manner, as evidenced by increased NLRP3, ASC, caspase-1, and downstream cytokines, such as interleukin (IL)-1β and IL-18. The activation of the NLRP3 inflammasome was significantly prevented by the selective mineralocorticoid r...

Blockage of autophagy pathway enhances Salmonella tumor-targeting.

Sun, 27 Mar 2016 05:28:02 +0100

In this study, we report that tumor-targeting Salmonella typhimurium A1-R (A1-R) or VNP20009 induced autophagy in human cancer cells, which serves as a defense response. Functionally, by knockdown of essential autophagy genes Atg5 or Beclin1 in bacteria-infected cancer cells, the autophagy pathway was blocked, which led to a significant increase of intracellular bacteria multiplication in cancer cells. Genetic inactivation of the autophagy pathway enhanced A1-R or VNP20009-mediated cancer cell killing by increasing apoptotic activity. We also demonstrate that the combination of pharmacological autophagy inhibitors chloroquine (CQ) or bafilomycin A1 (Baf A1) with tumor-targeting A1-R or VNP20009 significantly enhanced cancer-cell killing compared with Salmonella infection alone. These findi...

Pheno- and genotypic characterization of Pasteurella multocida isolated from cats, dogs and rabbits from Brazil.

Sun, 27 Mar 2016 05:20:02 +0100

This study aimed to characterize the genetic diversity of P. multocida isolated from dogs, cats and rabbits, and to evaluate their antimicrobial susceptibility profiles. A total of 620 animals were studied; 51 were positive for P. multocida and 92 strains were isolated. 60.9% of the strains belonged to the capsular type A, while the remaining were classified as non-typeable. The hgbA, ptfA, sodC, tadD and hsf2 genes were more frequent among the rabbit strains. Sulfonamides and cotrimoxazole presented the highest resistance rate, followed by erythromycin. PFGE clustered strains according to host species. Our results indicate that P. multocida from companion animals carry several virulence factors and are resistant to antimicrobials commonly used in human and veterinary medicine. PMID: ...

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Clinical isolates of Acinetobacter baumannii from a Portuguese hospital: PFGE characterization, antibiotic susceptibility and biofilm-forming ability.

Sun, 27 Mar 2016 05:20:02 +0100

Authors: Duarte A, Ferreira S, Almeida S, Domingues FC Abstract Acinetobacter baumannii is an emerging pathogen associated with nosocomial infections that in addition has shown an increasing resistance to antibiotics. In this work the genetic diversity of A. baumannii isolates from a Portuguese hospital, their antibiotic resistance profiles and ability to form biofilms was studied. Seventy-nine clinical A. baumannii isolates were characterized by pulsed-field gel electrophoresis (PFGE) with 9 different PFGE profiles being obtained. Concerning the antimicrobial susceptibility, all A. baumannii isolates were resistant to 12 of the 17 tested antibiotics and classified as multidrug-resistant (MDR). In addition, 74.7% of the isolates showed biofilm formation ability, however no statisti...

Regulation of signaling events involved in the pathophysiology of neovascular AMD.

Sun, 27 Mar 2016 01:44:02 +0100

Authors: Wang H, Hartnett ME Abstract Neovascular age-related macular degeneration (AMD) is a complex disease in which an individual's genetic predisposition is affected by aging and environmental stresses, which trigger signaling pathways involving inflammation, oxidation, and/or angiogenesis in the RPE cells and choroidal endothelial cells (CECs), to lead to vision loss from choroidal neovascularization. Antiangiogenic therapies have greatly improved clinical outcomes in the last decade; however, vision improves in less than half of patients treated for neovascular AMD, and treatments remain inadequate for atrophic AMD. Many studies focus on genetic predisposition or the association of outcomes in trials of human neovascular AMD but are unable to evaluate the effects between diff...

Genetics of Vesicoureteral Reflux.

Sun, 27 Mar 2016 00:22:02 +0100

Authors: Ninoa F, Ilaria M, Noviello C, Santoro L, Rätsch IM, Martino A, Cobellis G Abstract Vesicoureteral reflux (VUR) is the retrograde passage of urine from the bladder to the upper urinary tract. It is the most common congenital urological anomaly affecting 1-2% of children and 30-40% of patients with urinary tract infections. VUR is a major risk factor for pyelonephritic scarring and chronic renal failure in children. It is the result of a shortened intravesical ureter with an enlarged or malpositioned ureteric orifice. An ectopic embryonal ureteric budding development is implicated in the pathogenesis of VUR, which is a complex genetic developmental disorder. Many genes are involved in the ureteric budding formation and subsequently in the urinary tract and kidney developme...

Genetic Basis of Ureterocele.

Sun, 27 Mar 2016 00:22:02 +0100

Authors: Schultza K, Todab LY Abstract Congenital anomalies of the kidney and urinary tract (CAKUT) form a group of heterogeneous disorders that affect the kidneys, ureters and bladder, with frequent asynchronous presentations and multiple CAKUT associations in the same individual. Urinary tract formation is a complex process, dependent of the interaction of multiple genes and their sub-product. The same genic alterations can lead to different molecular expressions and different morphological anomalies. The ureterocele is a cystic dilation of the distal intramural ureter, resulting in obstruction of urine flow, dilation of the ureter and renal pelvis and loss of renal function. Two key steps in the urinary tract ontogenesis may be related to ureterocele development: formation and m...

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Contextualizing the Genes Altered in Bladder Neoplasms in Pediatric andTeen Patients Allows Identifying Two Main Classes of Biological ProcessesInvolved and New Potential Therapeutic Targets.

Sun, 27 Mar 2016 00:22:02 +0100

Authors: Porrello A, Piergentili RB Abstract Research on bladder neoplasms in pediatric and teen patients (BNPTP) has described 21 genes, which are variously involved in this disease and are mostly responsible for deregulated cell proliferation. However, due to the limited number of publications on this subject, it is still unclear what type of relationships there are among these genes and which are the chances that, while having different molecular functions, they i) act as downstream effector genes of well-known pro- or anti- proliferative stimuli and/or interplay with biochemical pathways having oncological relevance or ii) are specific and, possibly, early biomarkers of these pathologies. A Gene Ontology (GO)-based analysis showed that these 21 genes are involved in biological ...

Genetics of Bladder Malignant Tumors in Childhood.

Sun, 27 Mar 2016 00:22:02 +0100

Authors: Zangari A, Zaini J, Gulìa C Abstract Bladder masses are represented by either benign or malignant entities. Malignant bladder tumors are frequent causes of disease and death in western countries. However, in children they are less common. Additionally, different features are found in childhood, in which non epithelial tumors are more common than epithelial ones. Rhabdomyosarcoma is the most common pediatric bladder tumor, but many other types of lesions may be found, such as malignant rhabdoid tumor (MRT), inflammatory myofibroblastic tumor and neuroblastoma. Other rarer tumors described in literature include urothelial carcinoma and other epithelial neoplasms. Rhabdomyosarcoma is associated to a variety of genetic syndromes and many genes are involved in tumor developmen...

Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial Phenotypes.

Sun, 27 Mar 2016 00:22:02 +0100

Authors: Reutter H, Keppler-Noreuil K, E Keegan C, Thiele H, Yamada G, Ludwig M Abstract The Bladder-Exstrophy-Epispadias Complex (BEEC) represents the severe end of the uro-rectal malformation spectrum, and has a profound impact on continence, and on sexual and renal function. While previous reports of familial occurrence, in-creased recurrence among first-degree relatives, high concordance rates among monozygotic twins, and chromosomal aberra-tions were suggestive of causative genetic factors, the recent identification of copy number variations (CNVs), susceptibility regions and genes through the systematic application of array based analysis, candidate gene and genome-wide association studies (GWAS) provide strong evidence. These findings in human BEEC cohorts are underscored by...

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Bladder Conditions in Pediatric Patients: Genetics and Genomics.

Sun, 27 Mar 2016 00:22:02 +0100

Authors: Piergentili R PMID: 27013920 [PubMed] (Source: Current Genomics)

Editor's Message for 2016.

Sun, 27 Mar 2016 00:22:02 +0100

Authors: Neri C PMID: 27013919 [PubMed] (Source: Current Genomics)

Climate change may alter genetic diversity of Duchesnea indica, a clonal plant species

Sat, 26 Mar 2016 23:00:00 +0100

Publication date: June 2016 Source:Biochemical Systematics and Ecology, Volume 66 Author(s): Ji-Zhong Wan, Chun-Jing Wang, Chun-Xiang Liu, Hong-Li Li Climate change may alter the genetic diversity of plants. However, the relationship between genetic diversity in clonal plant species and climate change is unclear. To address this, we examined a representative clonal plant species, Duchesnea indica. We used microsatellite markers to analyze the genetic diversity of the species and used a correlation analysis to infer the relationship between climatic suitability and genetic diversity by using Maxent modeling. Then, we used a geographical information system approach to evaluate the change in genetic diversity of D. indica under climate change scenarios. There was a significantly negativ...

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A GABBR2 gene variant modifies pathophysiology in Huntington’s disease

Sat, 26 Mar 2016 23:00:00 +0100

Publication date: 4 May 2016 Source:Neuroscience Letters, Volume 620 Author(s): April L. Philpott, Paul B. Fitzgerald, Neil W. Bailey, Andrew Churchyard, Nellie Georgiou-Karistianis, Tarrant D.R. Cummins Striatal degeneration in Huntington’s disease (HD) causes changes in cortico-subcortical pathways. Transcranial magnetic stimulation (TMS) is a valuable tool for assessing pathophysiology within these pathways, yet has had limited application in HD. As cortico-subcortical pathways are largely mediated by GABA and dopamine receptor genes, understanding how these genes modulate neurophysiology in HD may provide new insights into how underlying pathology maps onto clinical phenotype. Twenty-nine participants with HD underwent motor cortex stimulation, while corticospinal excitabilit...

Methicillin-resistant Staphylococcus aureus in Stockholm, Sweden: Molecular epidemiology and antimicrobial susceptibilities to ceftaroline, linezolid, mupirocin and vancomycin in 2014

Sat, 26 Mar 2016 23:00:00 +0100

In conclusion, there was a diverse genetic population among the MRSA isolates and no predominant genotype was found. This study identified a few strains with high-level ceftaroline resistance, high-level mupirocin resistance and high-risk genotypes. (Source: Journal of Global Antimicrobial Resistance)

Dosage of copy number variation at 22q11.2 mediates changes in cognition, social function and brain structure in autism spectrum disorder

Sat, 26 Mar 2016 23:00:00 +0100

Publication date: Available online 26 March 2016 Source:Journal of the Formosan Medical Association Author(s): Hsin-I Chen, Yi-Ling Chien, Hsio-Mei Liao, Wei-Hsien Chien, Chia-Hsiang Chen, Yu-Chieh Chen, Susan Shur-Fen Gau Microdeletion at 22q11.2, a common copy number variation (CNV) noted in neurodevelopmental disorders, may be associated with cognitive impairment. However, cognitive function in individuals with microduplication remains unclear. This work presents the genetic, clinical, and brain structural data of two men out of 335 probands with autistic spectrum disorder (ASD) who had different CNV dosages at 22q11.2, and comparison with their siblings, 55 ASD probands, and 73 controls. Both showed severe autistic symptoms, but the proband with microduplication demonstrated b...

Crystal Induced Nephrotoxicity Associated with Acyclovir Use in Paediatric Patient

Sat, 26 Mar 2016 23:00:00 +0100

Publication date: Available online 26 March 2016 Source:Pediatric Infectious Disease Author(s): Abin Chandrakumar, Pretty G Tharakan, Bittu Thomas, Anu Albert, Teena Jacob Drug induced nephrotoxicity has evolved as one of the significant causes of renal failure in the contemporary setting accounting up to 20%. Acyclovir is an antiviral agent which has potential for precipitating transient crystal induced nephrotoxicity especially in elderly, euvolemic or renal patients when given as rapid intravenous bolus. The current case depicts evolution and management of transient nephropathy in a paediatric patient treated with Acyclovir for viral encephalopathy. The case presents a contrasting scenario to the conventional milieu of risk factors and surmise the possibility of genetic factor pr...

Evaluation of the RBC Pig-a assay and the PIGRET assay using benzo[a]pyrene in rats

Sat, 26 Mar 2016 23:00:00 +0100

Publication date: Available online 26 March 2016 Source:Mutation Research/Genetic Toxicology and Environmental Mutagenesis Author(s): Ryuta Kikuzuki, Haruka Sato, Ai Fujiwara, Tomoko Takahashi, Yosuke Ogiwara, Mihoko Sugiura The red blood cell (RBC) Pig-a assay has the potential to detect the in vivo mutagenicity of chemicals. Recently, use of the Pig-a assay with reticulocytes (the PIGRET assay) reportedly enabled the in vivo mutagenicity of chemicals to be detected earlier than using the RBC Pig-a assay. To evaluate whether the PIGRET assay is useful and effective as a short-term test, compared with the RBC Pig-a assay, we performed both assays using benzo[a]pyrene (BP), which is a well-known mutagen. BP was used to dose 8-week-old male rats orally at 0, 75.0, 150, and 300mg/kg a...

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Immune evasion pathways and the design of dendritic cell-based cancer vaccines.

Sat, 26 Mar 2016 21:34:04 +0100

Authors: Hanks BA Abstract Emerging data is suggesting that the process of dendritic cell (DC) tolerization is an important step in tumorigenesis. Our understanding of the networks within the tumor microenvironment that functionally tolerize DC function is evolving while methods for genetically manipulating DC populations in situ continue to develop. A more intimate understanding of the paracrine signaling pathways which mediate immune evasion by subverting DC function promises to provide novel strategies for improving the clinical efficacy of DC-based cancer vaccines. This will likely require a better understanding of both the antigen expression profile and the immune evasion network of the tumor and its associated stromal tissues. PMID: 27011049 [PubMed - in process] (Source...

Personalized therapy for pancreatic cancer: Do we need better targets, arrows, or both?

Sat, 26 Mar 2016 21:34:04 +0100

Authors: O Hayer KM, Brody JR Abstract Pancreatic cancer is predicted by the Pancreatic Cancer Action Network to soon become the 2nd leading cause of cancer related deaths in this country. This cannot be attributed to a lack of resources focused on interrogating the genomic landscape of pancreatic cancer genomes. Additionally, a large number of researchers and federal dollars have been directed towards inhibiting the most frequent genetic lesion in pancreatic cancer, Kras. Even with these advances, cytotoxic chemotherapy is currently the best option for patients with metastatic disease. Besides developing better early detection strategies, translating our knowledge of the molecular aspects of pancreatic cancer to the clinic via a targeted, personalized medicine approach may be the ...

Muscle biopsies from human muscle diseases with myopathic pathology reveal common alterations in mitochondrial function

Sat, 26 Mar 2016 20:22:37 +0100

This article is protected by copyright. All rights reserved. (Source: Journal of Neurochemistry)

Immunotherapy approaches to treat adult acute lymphoblastic leukemia.

Sat, 26 Mar 2016 18:56:02 +0100

Authors: Maino E, Bonifacio M, Scattolin AM, Bassan R Abstract Recent developments in immunotherapy are improving treatment results of B-precursor acute lymphoblastic leukemia. This advancement is promoted by new monoclonal antibodies such as inotuzumab ozogamicin, ofatumumab and blinatumomab, by rituximab, and by genetically engineered chimeric antigen receptor-modified T-cells. These treatments, variously targeting CD22, CD20 and CD19 antigens, yield unprecedented high rates of hematologic and molecular remissions even when used in monotherapy and in chemo-resistant or post-transplantation relapsed patients. Beside the encouraging results in relapsed/refractory disease, these agents may open a totally new era in the frontline management of this illness, redefining treatment stand...

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[Muscular Dystrophies Involving the Retinal Function].

Sat, 26 Mar 2016 17:56:02 +0100

This article gives an overview of major muscular dystrophies involving retinal function and their genetic origin, in order to guide differential diagnosis. PMID: 27011029 [PubMed - in process] (Source: Klinische Monatsblatter fur Augenheilkunde)

[Albinism and the Range of Fundus Hypopigmentation, Macular Hypoplasia, and Nystagmus].

Sat, 26 Mar 2016 17:56:02 +0100

Authors: Preising MN, Lorenz B Abstract From the ophthalmological view, albinism is a disorder of reduced pigmentation of the retinal and irdial pigment epithelium and the iris and choroid stroma. The reduced pigmentation is accompanied by morphological changes in the retina and the optic nerve. The functional relationship of these morphological changes is not yet well understood. This review summarises the genetic causes of reduced pigment synthesis and impaired pigment distribution, and discusses the variability of expression of albinism symptoms, in the light of other disorders affecting retinal development. PMID: 27011028 [PubMed - in process] (Source: Klinische Monatsblatter fur Augenheilkunde)

Genetic mouse embryo assay: improving performance and quality testing for assisted reproductive technology (ART) with a functional bioassay.

Sat, 26 Mar 2016 17:42:03 +0100

CONCLUSIONS: This novel approach provides a superior MEA that is more meaningful and sensitive for detection of embryotoxicity than morphological assessment alone. PMID: 27009109 [PubMed - in process] (Source: Reproductive Biology)

Genet Mol Res; +105 new citations

Sat, 26 Mar 2016 14:38:02 +0100

105 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results: Genet Mol Res These pubmed results were generated on 2016/03/26PubMed comprises more than 24 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites. (Source: Genetics and Molecular Research)

PCDH19‐related epileptic encephalopathy in a male mosaic for a truncating variant

Sat, 26 Mar 2016 12:07:29 +0100

Variants in the X‐linked gene PCDH19 are associated with early infantile epileptic encephalopathy‐9. This unusual condition spares hemizygous males except for psychiatric and behavioral abnormalities, and for this reason is also known as female limited epilepsy. Some cases are due to de novo PCDH19 variants, but may also be paternally inherited. Our patient is a 6‐year‐old male with epileptic encephalopathy. Exome sequencing revealed apparent heterozygosity in PCDH19 for a novel nonsense variant, c.605C>A (p.Ser202*), inconsistent with expectations for a male. Testing of other tissues revealed a mixture of mutant and normal alleles. These results are consistent with somatic mosaicism for p.Ser202*. This is the second male with somatic mosaicism for PCDH19 deficiency, providing f...

HLA‐B allele dropout in PCR sequence‐specific oligonucleotide probe typing due to intronic polymorphism in the novel B*58:01:01:02 allele

Sat, 26 Mar 2016 12:07:15 +0100

Summary Currently, Luminex technology based on the PCR sequence‐specific oligonucleotide (SSO) probe method has been widely used for HLA genotyping in the immunogenetics laboratories. Here, we reported a case with HLA‐B allele dropout by Luminex technology. The initial HLA‐B result of the Luminex method with a commercial agent kit was inconclusive, and then, the result of PCR‐SBT technology indicated the dropout as a HLA‐B*58 allele. Subsequently, the full‐length sequence of HLA‐B allele was determined by TOPO‐TA cloning, and a novel allele B*58:01:01:02 was identified in the individual. Compared with HLA‐B*58:01:01:01, the novel allele showed some nucleotides difference at 509 C>T, 521 T>G and CCC insertion in position 503 of intron 2. According to the full‐lengt...

Environment-induced epigenetic reprogramming in genomic regulatory elements in smoking mothers and their children.

Sat, 26 Mar 2016 11:56:02 +0100

Authors: Bauer T, Trump S, Ishaque N, Thürmann L, Gu L, Bauer M, Bieg M, Gu Z, Weichenhan D, Mallm JP, Röder S, Herberth G, Takada E, Mücke O, Winter M, Junge KM, Grützmann K, Rolle-Kampczyk U, Wang Q, Lawerenz C, Borte M, Polte T, Schlesner M, Schanne M, Wiemann S, Geörg C, Stunnenberg HG, Plass C, Rippe K, Mizuguchi J, Herrmann C, Eils R, Lehmann I Abstract Epigenetic mechanisms have emerged as links between prenatal environmental exposure and disease risk later in life. Here, we studied epigenetic changes associated with maternal smoking at base pair resolution by mappingDNAmethylation, histone modifications, and transcription in expectant mothers and their newborn children. We found extensive global differential methylation and carefully evaluated these changes to separate...

Mutational status of EZH2 and CD79B hot spots in mature B-cell non-Hodgkin's lymphomas: novel CD79B variations have been revealed.

Sat, 26 Mar 2016 11:11:03 +0100

CONCLUSIONS: None of the patients had well-known hot spot mutations in EZH2 and CD79B. However, we detected novel CD79B variations in mature B-cell non-Hodgkin's lymphoma patients. PMID: 27010137 [PubMed - in process] (Source: European Review for Medical and Pharmacological Sciences)

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Association Between MCT1 A1470T Polymorphism and Fat-Free Mass in Well-Trained Young Soccer Players

Sat, 26 Mar 2016 10:25:17 +0100

Abstract: Massidda, M, Eynon, N, Bachis, V, Corrias, L, Culigioni, C, Cugia, P, Scorcu, M, and Calò, CM. Association between MCT1 A1470T polymorphism and fat-free mass in well-trained young soccer players. J Strength Cond Res 30(4): 1171–1176, 2016—The aim of this study was to investigate the association between the MCT1 A1470T polymorphism and fat-free mass in young Italian elite soccer players. Participants were 128 Italian male soccer players. Fat-free mass was estimated for each of the soccer player using age- and gender-specific formulas with plicometry. Genotyping for the MCT1 A1470T polymorphism was performed using polymerase chain reaction. The MCT1 A1470T genotypes were in agreement with the Hardy-Weinberg equilibrium distribution. The percentage of fat-free mass was signific...

p57Kip2 knock‐in mouse reveals CDK‐independent contribution in the development of Beckwith‐Wiedemann syndrome

Sat, 26 Mar 2016 08:34:27 +0100

Abstract CDKN1C encodes the cyclin‐CDK inhibitor p57Kip2 (p57), a negative regulator of the cell cycle and putative tumor suppressor. Genetic and epigenetic alterations causing loss of p57 function are the most frequent cause of Beckwith‐Wiedemann syndrome (BWS), a genetic disorder characterized by multiple developmental anomalies and increased susceptibility to tumour development during childhood. So far, BWS development has been attributed entirely to the deregulation of proliferation caused by loss of p57‐mediated CDK inhibition. However, a fraction of BWS patients have point mutations in CDKN1C located outside of the CDK inhibitory region, suggesting the involvement of other parts of the protein in the disease. To test this possibility, we generated knock‐in mice deficient for ...

Expression of microRNAs miR21, miR146a, and miR155 in tuberous sclerosis complex cortical tubers and their regulation in human astrocytes and SEGA‐derived cell cultures

Sat, 26 Mar 2016 07:23:01 +0100

This study provides supportive evidence that inflammation‐related microRNAs play a role in TSC. In particular, miR146a and miR155 appear to be key players in the regulation of astrocyte‐mediated inflammatory response, with miR146a as most interesting anti‐inflammatory therapeutic candidate. GLIA 2016 Main Points Astrocytes represent a major source and target of inflammation‐related miRNAs up‐regulated in TSC brain miR146a and miR155 are key players in the regulation of astrocyte‐mediated inflammatory response (Source: Glia)

Autism and chromosome abnormalities – A Review

Sat, 26 Mar 2016 01:25:04 +0100

This article is protected by copyright. All rights reserved. (Source: Clinical Anatomy)

Hybrid Approach for Recanalization and Stenting of Acquired Pulmonary Vein Occlusion

Fri, 25 Mar 2016 23:00:00 +0100

Abstract A 5-year-old child with a Fontan circulation presented with acquired left pulmonary vein occlusion related to a previous surgical repair. We managed this lesion using a hybrid technique to perforate, dilate and stent the obstructed vessel. This approach should be considered when percutaneous access to the pulmonary veins is challenging (such as in a Fontan circulation). It also avoids the need for a high-risk redo sternotomy and cardiopulmonary bypass procedure. (Source: Mammalian Genome)

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James L. German, a pioneer in early human genetic research turned 90

Fri, 25 Mar 2016 23:00:00 +0100

In the early 1960s, J. German established the non‐synchronous human DNA replication pattern in metaphases of cultured lymphocytes and fibroblasts. This could be used to distinguish several chromosomes of similar morphology. From 1965 on over the next 30 years, he and his coworkers systematically studied Bloom's syndrome in depth, cumulating in the identification in 1995 of the BLM gene as encoding a DNA helicase. © 2016 Wiley Periodicals, Inc. (Source: American Journal of Medical Genetics Part A)

Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy

Fri, 25 Mar 2016 23:00:00 +0100

Intellectual disability (ID) with cerebellar ataxia comprises a genetically heterogeneous group of neurodevelopmental disorders. We identified a homozygous frameshift mutation in CWF19L1 (c.467delC; p.(P156Hfs*33)) by a combination of linkage analysis and Whole Exome Sequencing in a consanguineous Turkish family with a 9‐year‐old boy affected by early onset cerebellar ataxia and mild ID. Serial MRI showed mildly progressive cerebellar atrophy. Absent C19L1 protein expression in lymphoblastoid cell lines strongly suggested that c.467delC is a disease‐causing alteration. One further pregnancy of the mother had been terminated at 22 weeks of gestation because of a small cerebellum and agenesis of corpus callosum. The homozygous CWF19L1 variant was also present in the fetus. Postmortem e...

Family Communication of Genetic Risk: A Personalized Approach

Fri, 25 Mar 2016 23:00:00 +0100

Abstract Genetic information is changing the practice of medicine by personalizing prevention and treatment decisions based on the genetic profile of the individual. The impact of personalized genetic-based medicine extends beyond the individual to include the family, where knowledge of a genetic predisposition to a disease condition has implications for individuals, their siblings and offspring, and for the identity of the family itself. The quality of the family communication process is important in assuring accuracy of risk information and in maintaining the cohesion of the family unit. However, there is increasing evidence that the communication of genetic risk information within families is complex, selective, incomplete, and often ineffective. This paper presents an overview...

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Insulin-like growth factor 1 (IGF-1) therapy: Mitochondrial dysfunction and diseases

Fri, 25 Mar 2016 23:00:00 +0100

Publication date: Available online 25 March 2016 Source:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease Author(s): M.C. Sádaba, I. Martín-Estal, J.E. Puche, I. Castilla-Cortázar This review resumes the association between mitochondrial function and diseases, especially neurodegenerative diseases. Additionally, it summarizes the major role of IGF-1 as a mitochondrial protector, as studied in several experimental models (cirrhosis, aging…). The contribution of mitochondrial dysfunction to impairments in insulin metabolic signaling is also suggested by gene array analysis showing that reductions in gene expression, that regulates mitochondrial ATP production, are associated with insulin resistance and type 2 diabetes mellitus. Moreover, reductions in oxidative capa...

Metagenomes provide valuable comparative information on soil microeukaryotes

Fri, 25 Mar 2016 23:00:00 +0100

Publication date: Available online 26 March 2016 Source:Research in Microbiology Author(s): Samuel Jacquiod, Jonas Stenbæk, Susana S. Santos, Anne Winding, Søren J. Sørensen, Anders Priemé Despite the critical ecological roles of microeukaryotes in terrestrial ecosystems, most descriptive studies of soil microbes published so far focused only on specific groups. Meanwhile, the fast development of metagenome sequencing leads to considerable data accumulation in public repositories, providing microbiologists with substantial amounts of accessible information. We took advantage of public metagenomes in order to investigate microeukaryote communities in a well characterized grassland soil. The data gathered allowed the evaluation of several factors impacting the community structure...

Genetic and morphological separation of Uca occidentalis, a new East African fiddler crab species, from Uca annulipes (H. Milne Edward, 1837) (Crustacea: Decapoda: Brachyura: Ocypodidae)

Fri, 25 Mar 2016 23:00:00 +0100

Publication date: Available online 26 March 2016 Source:Zoologischer Anzeiger - A Journal of Comparative Zoology Author(s): Reza Naderloo, Christoph D. Schubart, Hsi-Te Shih The fiddler crab Uca annulipes (Milne Edwards, 1837) is thought to be widely distributed in the Indo-West Pacific. Previous studies showed consistent morphological differences between East African populations and those from the eastern Indian Ocean and Western Pacific. Here we provide detailed comparisons of the morphology and DNA sequences corresponding to the mitochondrial 16S rRNA gene fragment. As consequence, we refer to the populations from the western Indian Ocean as a new species, U. occidentalis n. sp., whereas U. annulipes has wide-ranging populations in the eastern Indian Ocean and West Pacific. The new...

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Molecular docking and binding study of harpagoside and harpagide as novel anti-inflammatory and anti-analgesic compound from Harpagophytum procumbens based on their interactions with COX-2 enzyme

Fri, 25 Mar 2016 23:00:00 +0100

Conclusions Results clearly revealed that harpagoside and harpagide act as potential highly selective COX-2 inhibitors. They are safe anti-inflammatory/analgesic compounds compared with classical non-steroidal anti-inflammatory drugs and could be considered as promising inflammatory inhibitors of a natural origin. (Source: Asian Pacific Journal of Tropical Disease)

Implications of genotypic differences in the generation of a urinary metabolomics radiation signature.

Fri, 25 Mar 2016 23:00:00 +0100

Publication date: Available online 25 March 2016 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Evagelia C. Laiakis, Evan L. Pannkuk, Maria Elena Diaz-Rubio, Yi-Wen Wang, Tytus D. Mak, Cynthia M. Simbulan-Rosenthal, David J. Brenner, Albert J. Fornace The increased threat of radiological terrorism and accidental nuclear exposures, together with increased usage of radiation-based medical procedures, has made necessary the development of minimally invasive methods for rapid identification of exposed individuals. Genetically predisposed radiosensitive individuals comprise a significant number of the population and require specialized attention and treatments after such events. Metabolomics, the assessment of the collective small molecule cont...

Efficacy of clinical diagnostic criteria for familial hypercholesterolemia genetic testing in Poland

Fri, 25 Mar 2016 23:00:00 +0100

Familial hypercholesterolaemia (FH), which leads to premature cardiovascular events, still remains underrecognized and undertreated in most countries. Untreated FH individuals aged 20 to 39 years are at 100-fold higher risk of mortality from coronary heart disease compared to those of a general population. Therefore, special efforts should be implemented to diagnose FH patients at early stages of life.The aim of this study was to evaluate the efficacy of the revised Dutch Lipid Clinic Network (DLCN) criteria proposed by the Polish Lipid Experts Forum to select index FH patients for DNA mutational analysis in Poland. (Source: Atherosclerosis)

Genetic Control of Potassium Channels

Fri, 25 Mar 2016 23:00:00 +0100

Publication date: Available online 26 March 2016 Source:Cardiac Electrophysiology Clinics Author(s): Ahmad S. Amin, Arthur A.M. WildeTeaser Approximately 80 genes in the human genome code for pore-forming subunits of potassium (K+) channels. Rare variants (mutations) in K+ channel–encoding genes may cause heritable arrhythmia syndromes. Not all rare variants in K+ channel–encoding genes are necessarily disease-causing mutations. Common variants in K+ channel–encoding genes are increasingly recognized as modifiers of phenotype in heritable arrhythmia syndromes and in the general population. Although difficult, distinguishing pathogenic variants from benign variants is of utmost importance to avoid false designations of genetic variants as disease-causing mutations. (Source: Cardia...

Genetic variation in the endangered Indian sweet flag (Acorus calamus L.) estimated using ISSR and RAPD markers

Fri, 25 Mar 2016 23:00:00 +0100

Publication date: Available online 25 March 2016 Source:Journal of Applied Research on Medicinal and Aromatic Plants Author(s): Avani Kasture, Ramar Krishnamurthy, Katagi Rajkumar Sweet flag (Acorus calamus L.), is a critically endangered species of mountainous regions of India. In order to evaluate and preserve the endangered medicinally important plant Sweet flag. We investigated the variation by collecting the whole plant from different geographical regions. Genetic variability among 20 accessions of this species was assessed using random amplified polymorphic DNA (RAPD) (25 primers) and inter simple sequence repeat (ISSR) markers (17 primers).The results showed 33.7% of bands formed by RAPD markers and 63.7% for ISSR were polymorphic. The Shannon’s indices (I) and Nei’s geneti...

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Cytokine polymorphisms in sickle cell disease and the relationship with cytokine expression

Fri, 25 Mar 2016 23:00:00 +0100

Sickle cell disease is a chronic inflammatory condition with elevated levels of inflammatory cytokines which may be regulated by genetic polymorphisms and could be associated to diverse disease presentations and to alloimmunization. The aim of this study was to evaluate Treg and Th17 cell frequencies, cytokine gene polymorphisms and their association with cytokine expression profile in SCD patients. For that purpose, we evaluated the IL4 intron3 VNTR (genotypes 1.1, 1.2, 2.2, 2.3), IL4-T590C>T, IL6-174G>C, TNFA-308G>A, IL10-819T>C, IL10-592A>C and IL10-1082A>G polymorphisms and their correlation with TGFB, IL4, IL6, IL10 gene expression in sickle cell patients. (Source: Experimental Hematology)

White matter hyperintensities are a core feature of Alzheimer's disease: Evidence from the Dominantly Inherited Alzheimer Network

Fri, 25 Mar 2016 23:00:00 +0100

This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)

The Biology of Stature

Fri, 25 Mar 2016 23:00:00 +0100

Most pediatricians are attuned to their patients' linear growth (height gain). At each visit, the child's height should be carefully measured and plotted. The clinician can then scrutinize the temporal pattern, and, if the linear growth appears abnormal, initiate an investigation to uncover the underlying problem. Despite this close interest in our patients' statural gains, linear growth itself often is considered as a “black box,” a mysterious process regulated by nutrition, hormones, genetics, and overall health. (Source: The Journal of Pediatrics)

IJERPH, Vol. 13, Pages 374: Identification of Haplotype Tag Single-Nucleotide Polymorphisms within the PPAR Family Genes and Their Clinical Relevance in Patients with Major Trauma

Fri, 25 Mar 2016 23:00:00 +0100

Conclusions: The rs10865710 polymorphism in the PPARγ gene might be used to assess the risk of sepsis and multiple organ dysfunction syndrome (MODS) in trauma patients. (Source: International Journal of Environmental Research and Public Health)

Are anti-Müllerian hormone and its receptor polymorphism associated with the hormonal condition of undescended testes?

Fri, 25 Mar 2016 23:00:00 +0100

Conclusion The AMHRII −482 A>G, AMHRII IVS 10+77 A>G, AMHRII IVS 5–6 C>T and AMH Ile49Ser genotypes should be determined in a much larger group of boys with cryptorchidism. (Source: Advances in Medical Sciences)

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Cutaneous Markers of Systemic Disease in the Lower Extremity

Fri, 25 Mar 2016 23:00:00 +0100

The skin of the lower extremity can be a helpful diagnostic tool for systemic disease. Diabetes, renal disease, genetic disorders, and even cancer can have cutaneous manifestations in the legs and feet; moreover, proper diagnosis can facilitate earlier treatment of these diseases and not only clear up the skin symptoms but also bring about resolution of the systemic disease causing them. Although not comprehensive, this article discusses many of these disorders presenting with integumentary manifestations in the lower extremities. Where appropriate, it also enumerates the treatments involved, both systemic and localized. (Source: Clinics in Podiatric Medicine and Surgery)

Immunohistochemical Expression of Proinflammatory Enzyme COX-2 and P53 in Ulcerative Colitis and its Associated Dysplasia and Colorectal Carcinoma

Fri, 25 Mar 2016 23:00:00 +0100

Conclusion Adding immunohistochemical analysis of cox-2 enzyme and p53 gene to routine histological assessment may improve the accuracy of early detection of dysplasia and colorectal cancer. COX-2 and p53 can be promising chemotherapeutic/chemopreventive targets in UC patients. (Source: Journal of Microscopy and Ultrastructure)

The Link Between Migraine, Reversible Cerebral Vasoconstriction Syndrome and Cervical Artery Dissection.

Fri, 25 Mar 2016 23:00:00 +0100

Authors: Mawet J, Debette S, Bousser MG, Ducros A Abstract Headache is the common thread of migraine, reversible cerebral vasoconstriction syndrome (RCVS) and cervical artery dissection (CeAD), three medical conditions that otherwise appear to be very different. However, epidemiological, clinical and genetic data suggest that these conditions share common and complex features and are, at least partly, linked. The purpose of this manuscript is to review existing evidence for an association between migraine, RCVS and CeAD and discuss the potential underlying mechanisms. PMID: 27016026 [PubMed - as supplied by publisher] (Source: Headache)

TGFBR2 mutation and MTHFR -C677T polymorphism in a Mexican mestizo population with cervico-cerebral artery dissection

Fri, 25 Mar 2016 23:00:00 +0100

This study supports a positive association between the MTHFR-C677T polymorphism and genetically confirmed Mexican mestizo CCAD patients. (Source: Journal of Neurology)

Lithium and suicide prevention in bipolar disorder.

Fri, 25 Mar 2016 21:19:01 +0100

CONCLUSION: The anti-suicidal effect of Li has been very well demonstrated. By its specific action on the serotoninergic system, treatment with Li significantly reduces "impulsive-aggressive" behaviour which is a vulnerability factor common to suicide and BD. Long-term appropriately modulated treatment with Li seems to have considerable impact on the reduction of suicidal behaviours, suicidal ideation and death by suicide in the BD population. PMID: 27000268 [PubMed - as supplied by publisher] (Source: L Encephale)

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Clinical outcomes of EGFR-TKI treatment and genetic heterogeneity in lung adenocarcinoma patients with EGFR mutations on exons 19 and 21.

Fri, 25 Mar 2016 20:54:02 +0100

CONCLUSIONS: Patients with EGFR 19 del exhibit longer PFS and higher ORR compared with those with L858R mutations. Whether the heterogeneity of tumors with EGFR 19 del and L858R mutations contribute to a therapeutic response difference needs further investigation. PMID: 27001083 [PubMed - in process] (Source: Chinese Journal of Cancer)

Analysis of ultra-deep targeted sequencing reveals mutation burden is associated with gender and clinical outcome in lung adenocarcinoma.

Fri, 25 Mar 2016 17:33:04 +0100

In this study we evaluated the clinical significance of mutation burden in lung adenocarcinoma and found that the male tumors harbored statistically greater burden of genetic alterations than female counterparts (Male median 3 (range 0-34) vs female median = 2 (0-24), male to female ratio = 1.636, 95% CI = 1.343-1.992) after adjustment of age at surgery, stage, smoking status. Kaplan-Meier survival analysis revealed that greater burden of genetic alterations was associated with worse overall survival. Moreover, multivariable analysis demonstrated mutation burden was an independent prognostic factor for the patients. Taken together, our analysis demonstrated gender disparity of mutation burden and their prognostic value in lung adenocarcinoma. This gender difference in mutation burden might...

LMO1 gene polymorphisms contribute to decreased neuroblastoma susceptibility in a Southern Chinese population.

Fri, 25 Mar 2016 17:33:04 +0100

Authors: He J, Zhong W, Zeng J, Zhu J, Zhang R, Wang F, Yang T, Zou Y, Xia H Abstract Neuroblastoma is one of the most commonly diagnosed extracranial solid tumors in infancy; however, the etiology of neuroblastoma remains largely unknown. Previous genome-wide association study (GWAS) indicated that several common genetic variations (rs110419 A > G, rs4758051 G > A, rs10840002 A > G and rs204938 A > G) in the LIM domain only 1 (LMO1) gene were associated with neuroblastoma susceptibility. The aim of this study was to evaluate the correlation between the four GWAS-identified LMO1 gene polymorphisms and neuroblastoma risk in a Southern Chinese population. We genotyped the four polymorphisms in 256 neuroblastoma cases and 531 controls. Odds ratios (ORs) and 95% confidence ...

Association of HMGCR polymorphism with late-onset Alzheimer's disease in Han Chinese.

Fri, 25 Mar 2016 17:33:04 +0100

In conclusion, our study demonstrates A allele of HMGCR rs3846662 acts as a protective factor for LOAD in northern Han Chinese. PMID: 27009838 [PubMed - as supplied by publisher] (Source: Oncotarget)

Tall cell variant of papillary thyroid carcinoma: current evidence on clinicopathologic features and molecular biology.

Fri, 25 Mar 2016 17:33:04 +0100

Authors: Wang X, Cheng W, Liu C, Li J Abstract Tall cell variant (TCV) of papillary thyroid carcinoma (PTC) has been recognized for the past few decades as an entity showing aggressive biological behavior; however, there is considerable controversy regarding the definition, clinical and pathological features of TCV because of its rarity and difficult diagnosis. No clinical features can accurately diagnose TCV. Thus, the results of histocytology, immunohistochemistry and molecular genetics tests have important clinical implications for diagnosis. Given the aggressiveness and the increased recurrence and poor survival rates, more aggressive treatment approach and rigorous follow-up is required for patients with TCV. In the present article, we undertook a comprehensive review to summa...

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Genetic overlap between type 2 diabetes and major depressive disorder identified by bioinformatics analysis.

Fri, 25 Mar 2016 17:33:04 +0100

Authors: Ji HF, Zhuang QS, Shen L Abstract Our study investigated the shared genetic etiology underlying type 2 diabetes (T2D) and major depressive disorder (MDD) by analyzing large-scale genome wide association studies statistics. A total of 496 shared SNPs associated with both T2D and MDD were identified at p-value ≤ 1.0E-07. Functional enrichment analysis showed that the enriched pathways pertained to immune responses (Fc gamma R-mediated phagocytosis, T cell and B cell receptors signaling), cell signaling (MAPK, Wnt signaling), lipid metabolism, and cancer associated pathways. The findings will have potential implications for future interventional studies of the two diseases. PMID: 27007159 [PubMed - as supplied by publisher] (Source: Oncotarget)

FoxO1 regulates allergic asthmatic inflammation through regulating polarization of the macrophage inflammatory phenotype.

Fri, 25 Mar 2016 17:33:04 +0100

Authors: Chung S, Lee TJ, Reader BF, Kim JY, Lee YG, Park GY, Karpurapu M, Ballinger MN, Qian F, Rusu L, Chung HY, Unterman TG, Croce CM, Christman JW Abstract Inflammatory monocyte and tissue macrophages influence the initiation, progression, and resolution of type 2 immune responses, and alveolar macrophages are the most prevalent immune-effector cells in the lung. While we were characterizing the M1- or M2-like macrophages in type 2 allergic inflammation, we discovered that FoxO1 is highly expressed in alternatively activated macrophages. Although several studies have been focused on the fundamental role of FoxOs in hematopoietic and immune cells, the exact role that FoxO1 plays in allergic asthmatic inflammation in activated macrophages has not been investigated. Growing eviden...

Artificial antigen-presenting cells expressing AFP158-166 peptide and interleukin-15 activate AFP-specific cytotoxic T lymphocytes.

Fri, 25 Mar 2016 17:33:04 +0100

Authors: Sun L, Guo H, Jiang R, Lu L, Liu T, Zhang Z, He X Abstract Professional antigen-presenting cells (APCs) are potent generators of tumor antigen-specific cytotoxic T lymphocytes (CTLs) for adoptive immunotherapy; however, generation of APCs is cumbersome, expensive, and subject to the tumor microenvironment. Artificial APCs (aAPCs) have been developed as a cost-effective alternative to APCs. We developed a cellular aAPC that efficiently generated alpha-fetoprotein (AFP)-specific CTLs. We genetically modified the human B cell lymphoma cell line BJAB with a lentiviral vector to establish an aAPC called BA15. The expression of AFP158-166-HLA-A*02:01 complex, CD80, CD86, and interleukin (IL)-15 in BA15 cells was assessed. The efficiency of BA15 at generating AFP-specific CTLs an...

Oncogenic AKT1(E17K) mutation induces mammary hyperplasia but prevents HER2-driven tumorigenesis.

Fri, 25 Mar 2016 17:33:04 +0100

Authors: Mancini ML, Lien EC, Toker A Abstract One of the most frequently deregulated signaling pathways in breast cancer is the PI 3-K/Akt cascade. Genetic lesions are commonly found in PIK3CA, PTEN, and AKT, which lead to excessive and constitutive activation of Akt and downstream signaling that results in uncontrolled proliferation and increased cellular survival. One such genetic lesion is the somatic AKT1(E17K) mutation, which has been identified in 4-8% of breast cancer patients. To determine how this mutation contributes to mammary tumorigenesis, we constructed a genetically engineered mouse model that conditionally expresses human AKT1(E17K) in the mammary epithelium. Although AKT1(E17K) is only weakly constitutively active and does not promote proliferation in vitro, it is...

Protein Phosphatase, Mg2+/Mn2+-dependent 1A controls the innate antiviral and antibacterial response of macrophages during HIV-1 and Mycobacterium tuberculosis infection.

Fri, 25 Mar 2016 17:33:04 +0100

Authors: Sun J, Schaaf K, Duverger A, Wolschendorf F, Speer A, Wagner F, Niederweis M, Kutsch O Abstract Co-infection with HIV-1 and Mycobacterium tuberculosis (Mtb) is a major public health issue. While some research has described how each pathogen accelerates the course of infection of the other pathogen by compromising the immune system, very little is known about the molecular biology of HIV-1/Mtb co-infection at the host cell level. This is somewhat surprising, as both pathogens are known to replicate and persist in macrophages. We here identify Protein Phosphatase, Mg2+/Mn2+-dependent 1A (PPM1A) as a molecular link between Mtb infection and increased HIV-1 susceptibility of macrophages. We demonstrate that both Mtb and HIV-1 infection induce the expression of PPM1A in primary...

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HNF1B-associated clinical phenotypes: the kidney and beyond

Fri, 25 Mar 2016 16:22:21 +0100

Abstract Mutations in HNF1B, the gene encoding hepatocyte nuclear factor 1β are the most commonly identified genetic cause of renal malformations. HNF1B was first identified as a disease gene for diabetes (MODY5) in 1997, and its involvement in renal disease was subsequently noted through clinical observations in pedigrees affected by MODY5. Since then, a whole spectrum of associated phenotypes have been reported, including genital malformations, autism, epilepsy, gout, hypomagnesaemia, primary hyperparathyroidism, liver and intestinal abnormalities and a rare form of kidney cancer. The most commonly identified mutation, in approximately 50 % of patients, is an entire gene deletion occurring in the context of a 17q12 chromosomal microdeletion that also includes several other ge...

Liver transplantation for aHUS: still needed in the eculizumab era?

Fri, 25 Mar 2016 16:22:21 +0100

Conclusions Liver transplant may definitely cure aHUS and represents an option for patients with suboptimal response to eculizumab. (Source: Pediatric Nephrology)

Resilience: A psychobiological construct for psychiatric disorders - Shrivastava A, Desousa A.

Fri, 25 Mar 2016 16:13:53 +0100

Understanding of psychopathology of mental disorder is evolving, particularly with availability of newer insight from the field of genetics, epigenetics, social, and environmental pathology. It is now becoming clear how biological factors are contributing ... (Source: SafetyLit)

Bilateral retinal hemorrhages following finger pressure against the soft palate (الترفيع) in recessive CRB1-related retinopathy.

Fri, 25 Mar 2016 15:45:01 +0100

CONCLUSIONS: The traditional village therapy may have compromised retinal venous outflow and/or provoked a Valsalva phenomenon, leading to the bilateral retinal hemorrhages. The fact that this occurred bilaterally and in both sisters supports the concept of relative vessel wall incompetence as part of CRB1-related retinopathy. PMID: 27007588 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)

Functional polymorphisms in the IL-10 gene with susceptibility to esophageal, nasopharyngeal, and oral cancers.

Fri, 25 Mar 2016 15:40:03 +0100

Authors: Li YF, Yang PZ, Li HF Abstract Emerging evidence showed that functional polymorphisms in the IL-10 gene may have effects on individuals' susceptibility to nasopharyngeal, oral and esophageal cancers, yet individually published findings are inconsistent. We therefore designed the meta-analysis to investigate the correlations of IL-10 genetic polymorphisms with susceptibility to nasopharyngeal, oral and esophageal cancers. The EMBASE, MEDLINE, CINAHL, Web of Science and the Chinese Biomedical Database (CBM) databases were searched with no language restrictions. We use Comprehensive Meta-analysis 2.0 software to carry out statistical analysis. Ten case-control studies with a number of 1,883 patients and 2,857 healthy subjects were enrolled. Our results revealed that IL-10 rs1...

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MicroRNAs in the key events of systemic lupus erythematosus pathogenesis.

Fri, 25 Mar 2016 15:35:02 +0100

CONCLUSION: Distinct miRs are differentially expressed in both SLE mice models and human patients and promote autoimmune features of immune processes. MiRs are important molecules modulating susceptibility to SLE as well as its onset, clinical diversity and progression. PMID: 27003314 [PubMed - as supplied by publisher] (Source: Biomedical Papers of the Medical Faculty of the Univ Palacky Olomouc Czech Repub)

Why are there apes? Evidence for the co-evolution of ape and monkey ecomorphology.

Fri, 25 Mar 2016 14:43:02 +0100

Authors: Hunt KD Abstract Apes, members of the superfamily Hominoidea, possess a distinctive suite of anatomical and behavioral characters which appear to have evolved relatively late and relatively independently. The timing of paleontological events, extant cercopithecine and hominoid ecomorphology and other evidence suggests that many distinctive ape features evolved to facilitate harvesting ripe fruits among compliant terminal branches in tree edges. Precarious, unpredictably oriented, compliant supports in the canopy periphery require apes to maneuver using suspensory and non-sterotypical postures (i.e. postures with eccentric limb orientations or extreme joint excursions). Diet differences among extant species, extant species numbers and evidence of cercopithecoid diversificat...

Stripped-Down Synthetic Organism Has Smallest Genome Yet

Fri, 25 Mar 2016 14:41:58 +0100

This study is definitely trying to understand a minimal basis of life," said Venter. But the researchers said that even with such a simple organism, that understanding remained elusive. They noted that even though their organism has so few genes, they were still uncertain about the function of nearly a third of them, even after more than five years of work. The researchers predicted their work would yield practical applications in developing new medicines, biochemicals, biofuels and in agriculture. "Our long-term vision has been to design and build synthetic organisms on demand where you can add in specific functions and predict what the outcome is going to be," said Daniel Gibson, vice president for DNA technologies at Synthetic Genomics Inc, the company handling commercial applications f...

Iris transillumination defect and its gene modulators do not correlate with intraocular pressure in the BXD family of mice.

Fri, 25 Mar 2016 13:49:01 +0100

CONCLUSIONS: Genetic modulators of IOP thus may be independently identified using the full array of BXD mice without concern for the presence of TIDs or mutations in Typr1 and/or Gpnmb. PMID: 27011731 [PubMed - as supplied by publisher] (Source: Molecular Vision)

A twist on the genetic link between Alzheimer’s and heart disease

Fri, 25 Mar 2016 13:30:03 +0100

Alzheimer’s disease often strikes fear in people’s hearts because it gradually erodes a person’s ability to remember, think, and learn. There is no cure, and available treatments alleviate symptoms only temporarily. An estimated 5.3 million Americans currently have Alzheimer’s disease, yet this brain disorder is far less common than heart disease. More than 85 million people in the United States are living with some form of cardiovascular disease or the after-effects of stroke, which also affects brain function. Many people don’t realize that Alzheimer’s and heart disease share a genetic link: the apolipoprotein E gene, also known as ApoE. Genetic testing for ApoE — which is done mainly in research settings and isn’t yet widely available — cannot predict whether a per...

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The Future of Myopia Control Contact Lenses

Fri, 25 Mar 2016 13:22:36 +0100

ABSTRACT: The growing incidence of pediatric myopia worldwide has generated strong scientific interest in understanding factors leading to myopia development and progression. Although contact lenses (CLs) are prescribed primarily for refractive correction, there is burgeoning use of particular modalities for slowing progression of myopia following reported success in the literature. Standard soft and rigid CLs have been shown to have minimal or no effect for myopia control. Overall, orthokeratology and soft multifocal CLs have shown the most consistent performance for myopia control with the least side effects. However, their acceptance in both clinical and academic spheres is influenced by data limitations, required off-label usage, and a lack of clear understanding of their mechanisms fo...

Minimum Cost Estimation of a Baseline Survey for a Molecular Epidemiology Cohort Study: Collecting Participants in a Model Region in Japan.

Fri, 25 Mar 2016 12:51:01 +0100

CONCLUSIONS: We investigated a standardized example of the tasks and total actual costs of a regional study office. Our approach is easy to utilize and will help improve the management of regional study offices in future molecular epidemiology studies. PMID: 27001116 [PubMed - as supplied by publisher] (Source: Journal of Epidemiology)

New technique promises to banish chunky ankles in 15 minutes

Fri, 25 Mar 2016 12:44:47 +0100

Zebun Islam, a 44-year-old paralegal from London, is a delighted convert to the cankle lift and is thrilled with the results she's got from it. Cankles are probably genetic and are impervious to dieting. (Source: the Mail online | Health)

Upper tract urothelial carcinoma: epidemiology, high risk populations, and detection.

Fri, 25 Mar 2016 12:35:02 +0100

Authors: Redrow GP, Matin SF Abstract Upper tract urothelial carcinoma (UTUC) is a rare but highly morbid genitourinary malignancy. In 2014 approximately 15000 new cases were diagnosed in the United States. It accounts for approximately 5-10% of all urothelial cell carcinomas, and 10% of renal tumors. Recent research has increased understanding of the epidemiology of this disease, including several high-risk populations. Environmental exposure to tobacco as well as aristolochic acid, and other carcinogens significantly increase the development of UTUC. Additionally, the genetic condition of hereditary nonpolyposis colorectal carcinoma (HNPCC), also known as Lynch Syndrome (LS) is linked to development of UTUC. Advances in imaging, ureteroscopy, cytological techniques and pathologic...

Genetic syndrome may underlie some Parkinson’s cases

Fri, 25 Mar 2016 12:34:30 +0100

Rare deletions at chromosome 22q11.2 are present at an increased rate in patients with Parkinson’s disease, researchers report in The Lancet Neurology. (Source: MedWire News)

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Genome-wide Scanning and Characterization of Sorghum bicolor L. Heat Shock Transcription Factors.

Fri, 25 Mar 2016 12:27:02 +0100

Authors: Nagaraju M, Reddy PS, Kumar SA, Srivastava RK, Kishor PB, Rao DM Abstract A genome-wide scanning of Sorghum bicolor resulted in the identification of 25 SbHsf genes. Phylogenetic analysis shows the ortholog genes that are clustered with only rice, representing a common ancestor. Promoter analysis revealed the identification of different cis-acting elements that are responsible for abiotic as well as biotic stresses. Hsf domains like DBD, NLS, NES, and AHA have been analyzed for their sequence similarity and functional characterization. Tissue specific expression patterns of Hsfs in different tissues like mature embryo, seedling, root, and panicle were studied using real-time PCR. While Hsfs4 and 22 are highly expressed in panicle, 4 and 9 are expressed in seedlings. Sorghu...

Clinical Next Generation Sequencing for Precision Medicine in Cancer.

Fri, 25 Mar 2016 12:27:02 +0100

This article describes the strengths of NGS, NGS panels used in precision medicine, current applications of NGS in cytology, and its challenges and future directions for routine clinical use. PMID: 27006629 [PubMed] (Source: Current Genomics)

Inside the Pan-genome - Methods and Software Overview.

Fri, 25 Mar 2016 12:27:02 +0100

Authors: Guimarães LC, Florczak-Wyspianska J, de Jesus LB, Viana MV, Silva A, Ramos RT, Soares Sde C, Soares Sde C Abstract The number of genomes that have been deposited in databases has increased exponentially after the advent of Next-Generation Sequencing (NGS), which produces high-throughput sequence data; this circumstance has demanded the development of new bioinformatics software and the creation of new areas, such as comparative genomics. In comparative genomics, the genetic content of an organism is compared against other organisms, which helps in the prediction of gene function and coding region sequences, identification of evolutionary events and determination of phylogenetic relationships. However, expanding comparative genomics to a large number of related bacteria, w...

It's Time for An Epigenomics Roadmap of Heart Failure.

Fri, 25 Mar 2016 12:27:02 +0100

Authors: Papait R, Corrado N, Rusconi F, Serio S, V G Latronico M Abstract The post-genomic era has completed its first decade. During this time, we have seen an attempt to understand life not just through the study of individual isolated processes, but through the appreciation of the amalgam of complex networks, within which each process can influence others. Greatly benefiting this view has been the study of the epigenome, the set of DNA and histone protein modifications that regulate gene expression and the function of regulatory non-coding RNAs without altering the DNA sequence itself. Indeed, the availability of reference genome assemblies of many species has led to the development of methodologies such as ChIP-Seq and RNA-Seq that have allowed us to define with high resolutio...

Analysis of PRKN Variants and Clinical Features in Polish Patients with Parkinson's Disease.

Fri, 25 Mar 2016 12:27:02 +0100

Authors: Oczkowska A, Florczak-Wyspianska J, Permoda-Osip A, Owecki M, Lianeri M, Kozubski W, Dorszewska J Abstract The etiology of Parkinson's disease (PD) is still unclear, but mutations in PRKN have provided some biological insights. The role of PRKN mutations and other genetic variation in determining the clinical features of PD remains unresolved. The aim of the study was to analyze PRKN mutations in PD and controls in the Polish population and to try to correlate between the presence of genetic variants and clinical features. We screened for PRKN mutations in 90 PD patients and 113 controls and evaluated clinical features in these patients. We showed that in the Polish population 4% of PD patients had PRKN mutations (single or with additional polymorphism) while single hetero...