3,450,562 results match your criteria Genetics of LDL Cholesterol


A Female Patient with Xq28 Microduplication Presenting with Myotubular Myopathy, Confirmed with a Custom-Designed X-array.

Neuropediatrics 2018 Dec 12. Epub 2018 Dec 12.

Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.

X-linked myotubular myopathy (XLMTM) is a rare inherited neuromuscular disorder associated with mutations in the gene on the Xq28 region. We report a severely affected girl with XLMTM, caused by maternally inherited 661 kb Xq28 microduplication identified by chromosomal microarray analysis and confirmed also on DNA from muscle biopsy with a custom-designed X-chromosome-specific microarray. X-inactivation analysis revealed a skewed inactivation pattern on the proband's muscle biopsy. Read More

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December 2018

A coronary artery disease-associated tRNAThr mutation altered mitochondrial function, apoptosis and angiogenesis.

Nucleic Acids Res 2018 Dec 12. Epub 2018 Dec 12.

Division of Medical Genetics and Genomics, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.

The tissue specificity of mitochondrial tRNA mutations remains largely elusive. In this study, we demonstrated the deleterious effects of tRNAThr 15927G>A mutation that contributed to pathogenesis of coronary artery disease. The m. Read More

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December 2018

The Gly385(388)Arg Polymorphism of the FGFR4 Receptor regulates Hepatic Lipogenesis under healthy Diet.

J Clin Endocrinol Metab 2018 Dec 12. Epub 2018 Dec 12.

Department of Internal Medicine, Division of Endocrinology, Diabetology, Vascular Disease, Nephrology and Clinical Chemistry, University of Tübingen, Germany.

Context: The effect of a lifestyle intervention to reduce liver fat content in nonalcoholic fatty liver disease in humans is influenced by genetics. We hypothesized that the functionally active amino acid exchange in humans Gly388Arg (mouse homologue: Gly385Arg) in the fibroblast growth factor receptor 4 (FGFR4), which regulates bile acid, lipid and glucose metabolism, may determine the dynamics of hepatic lipid accumulation and insulin sensitivity in humans. Mechanisms of this substitution were studied in mice under normal chow and high-fat diet. Read More

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December 2018
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Intrinsically disordered regions regulate both catalytic and non-catalytic activities of the MutLα mismatch repair complex.

Nucleic Acids Res 2018 Dec 12. Epub 2018 Dec 12.

Department of Molecular Biosciences and Institute for Cellular and Molecular Biology, University of Texas at Austin, Austin, TX 78712, USA.

Intrinsically disordered regions (IDRs) are present in at least 30% of the eukaryotic proteome and are enriched in chromatin-associated proteins. Using a combination of genetics, biochemistry and single-molecule biophysics, we characterize how IDRs regulate the functions of the yeast MutLα (Mlh1-Pms1) mismatch repair (MMR) complex. Shortening or scrambling the IDRs in both subunits ablates MMR in vivo. Read More

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December 2018

The role of glutamine metabolism for host defense against Mycobacterium tuberculosis infection.

J Infect Dis 2018 Dec 12. Epub 2018 Dec 12.

Radboud university medical center, Department of Internal Medicine and Radboud Center of Infectious Diseases, Nijmegen, the Netherlands.

Background: Rewiring cellular metabolism is important for activation of immune cells during host defense against Mycobacterium tuberculosis. Glutamine has been implicated as an immunomodulatory nutrient, but its role in response to M. tuberculosis is unknown. Read More

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December 2018
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Galapagos Islands Endemic Vertebrates: A Population Genetics Perspective.

Authors:
Philip W Hedrick

J Hered 2018 Dec 12. Epub 2018 Dec 12.

School of Life Sciences, Arizona State University, Tempe, AZ.

The organisms of the Galapagos Islands played a central role in the development of the theory of evolution by Charles Darwin. Examination of the population genetics factors of many of these organisms with modern molecular methods have expanded our understanding of their evolution. Here I provide a perspective on how selection, gene flow, genetic drift, mutation, and inbreeding have contributed to the evolution of six of the iconic Galapagos species; flightless cormorant, pink iguana, marine iguana, Galapagos hawk, giant tortoises, and Darwin's finches. Read More

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December 2018

Immune system stimulation increases dietary threonine requirements for protein deposition in growing pigs.

J Anim Sci 2018 Dec 12. Epub 2018 Dec 12.

Department of Animal and Food Sciences, Texas Tech University, Lubbock, Texas.

Previous studies have reported an increase in the utilization of threonine (Thr) during immune system stimulation (ISS). However, increased utilization of an amino acid (AA) during ISS may not reflect an increased dietary requirement, as endogenous sources may supply AA to meet the need for enhanced utilization. The current study evaluated the impact of ISS on components of dietary Thr requirements, i. Read More

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December 2018

Implementation of a Stirling number estimator enables direct calculation of population genetics tests for large sequence data sets.

Authors:
Swaine L Chen

Bioinformatics 2018 Dec 12. Epub 2018 Dec 12.

Department of Medicine, Division of Infectious Diseases, Yong Loo Lin School of Medicine, National University of Singapore, Singapore; and Infectious Diseases Group, Genome Institute of Singapore, Singapore.

Motivation: Stirling numbers enter into the calculation of several population genetics statistics, including Fu's Fs. However, as alignments become large (>∼50 sequences), the Stirling numbers required rapidly exceed the standard floating point range. Another recursive method for calculating Fu's Fs suffers from floating point underflow issues. Read More

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December 2018

DNA demethylation facilitates the specific transcription of the mouse X-linked Tsga8 gene in round spermatids.

Biol Reprod 2018 Dec 12. Epub 2018 Dec 12.

Department of Medical Genetics and Division of Human Morbid Genomics, State Key Laboratory of Biotherapy, West China Hospital, West China Medical School, Sichuan University, Chengdu, Sichuan Province, China.

Some X-linked genes necessary for spermiogenesis are specifically activated in the post-meiotic germ cells. However, the regulatory mechanism about this activation is not clearly understood. Here, we examined the potential mechanism controlling the transcriptional activation of the mouse testis specific gene A8 (Tsga8) gene in round spermatids. Read More

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December 2018

Maximum Time Between Tests: A Digital Biomarker to Detect Therapy Compliance and Assess Schedule Quality in Measurement-Based eHealth Systems for Alcohol Use Disorder.

Alcohol Alcohol 2018 Dec 12. Epub 2018 Dec 12.

Department of Pharmaceutical Biosciences, Uppsala University, Uppsala, Sweden.

Aim: To evaluate, in a breathalyzer-based eHealth system, whether the time-based digital biomarker 'maximum time between tests' (MTBT) brings valuable information on alcohol consumption patterns as confirmed by correlation with blood phosphatidyl ethanol (PEth), serum carbohydrate deficient transferrin (CDT) and timeline follow-back data.

Method: Data on 54 patients in follow-up for treatment of alcohol use disorder were analysed.

Results: The model of weekly averages of 24-log transformed MTBT adequately described timeline follow-back data (P  <  0. Read More

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December 2018

Gene expression models based on transcription factor binding events confer insight into functional cis-regulatory variants.

Bioinformatics 2018 Dec 12. Epub 2018 Dec 12.

Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada.

Motivation: Deciphering the functional roles of cis-regulatory variants is a critical challenge in genome analysis and interpretation. It has been hypothesized that altered transcription factor (TF) binding events are a central mechanism by which cis-regulatory variants impact gene expression levels. However, we lack a computational framework to understand and quantify such mechanistic contributions. Read More

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December 2018

Agnostic Pathway/Gene Set Analysis of Genome-Wide Association Data Identifies Associations for Pancreatic Cancer.

Authors:
Naomi Walsh Han Zhang Paula L Hyland Qi Yang Evelina Mocci Mingfeng Zhang Erica J Childs Irene Collins Zhaoming Wang Alan A Arslan Laura Beane-Freeman Paige M Bracci Paul Brennan Federico Canzian Eric J Duell Steven Gallinger Graham G Giles Michael Goggins Gary E Goodman Phyllis J Goodman Rayjean J Hung Charles Kooperberg Robert C Kurtz Núria Malats Loic LeMarchand Rachel E Neale Sara H Olson Ghislaine Scelo Xiao O Shu Stephen K Van Den Eeden Kala Visvanathan Emily White Wei Zheng Demetrius Albanes Gabriella Andreotti Ana Babic William R Bamlet Sonja I Berndt Ayelet Borgida Marie-Christine Boutron-Ruault Lauren Brais Paul Brennan Bas Bueno-de-Mesquita Julie Buring Kari G Chaffee Stephen Chanock Sean Cleary Michelle Cotterchio Lenka Foretova Charles Fuchs J Michael M Gaziano Edward Giovannucci Michael Goggins Thilo Hackert Christopher Haiman Patricia Hartge Manal Hasan Kathy J Helzlsouer Joseph Herman Ivana Holcatova Elizabeth A Holly Robert Hoover Rayjean J Hung Vladimir Janout Eric A Klein Robert C Kurtz Daniel Laheru I-Min Lee Lingeng Lu Núria Malats Satu Mannisto Roger L Milne Ann L Oberg Irene Orlow Alpa V Patel Ulrike Peters Miquel Porta Francisco X Real Nathaniel Rothman Howard D Sesso Gianluca Severi Debra Silverman Oliver Strobel Malin Sund Mark D Thornquist Geoffrey S Tobias Jean Wactawski-Wende Nick Wareham Elisabete Weiderpass Nicolas Wentzensen William Wheeler Herbert Yu Anne Zeleniuch-Jacquotte Peter Kraft Donghui Li Eric J Jacobs Gloria M Petersen Brian M Wolpin Harvey A Risch Laufey T Amundadottir Kai Yu Alison P Klein Rachael Z Stolzenberg-Solomon

J Natl Cancer Inst 2018 Dec 12. Epub 2018 Dec 12.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD.

Background: Genome-wide association studies (GWAS) identify associations of individual single-nucleotide polymorphisms (SNPs) with cancer risk but usually only explain a fraction of the inherited variability. Pathway analysis of genetic variants is a powerful tool to identify networks of susceptibility genes.

Methods: We conducted a large agnostic pathway-based meta-analysis of GWAS data using the summary-based adaptive rank truncated product method to identify gene sets and pathways associated with pancreatic ductal adenocarcinoma (PDAC) in 9040 cases and 12 496 controls. Read More

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December 2018

Multicenter experience with large panel next-generation sequencing in patients with advanced solid cancers in Japan.

Jpn J Clin Oncol 2018 Dec 12. Epub 2018 Dec 12.

Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan.

Background: Application of next-generation DNA sequencing (NGS) has recently become increasingly common in the field of clinical oncology in several countries around the world. In Japan also, a system for applying NGS to routine clinical practice is gradually being established. During this process, we introduced in Japan the tumor-profiling MSK-IMPACT (Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets) assay. Read More

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December 2018

Predicting Ames Mutagenicity Using Conformal Prediction in the Ames/QSAR International Challenge Project.

Mutagenesis 2018 Dec 12. Epub 2018 Dec 12.

Computer Learning Research Centre, Royal Holloway, University of London Egham, Surrey, UK.

Valid and predictive models for classifying Ames mutagenicity have been developed using conformal prediction. The models are Random Forest models using signature molecular descriptors. The investigation indicates, on excluding not-strongly mutagenic compounds (class B), that the validity for mutagenic compounds is increased for the predictions based on both public and the Division of Genetics and Mutagenesis, National Institute of Health Sciences of Japan (DGM/NIHS) data while less so when using only the latter data source. Read More

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December 2018

Effect modification of FADS2 polymorphisms on the association between breastfeeding and intelligence: results from a collaborative meta-analysis.

Int J Epidemiol 2018 Dec 11. Epub 2018 Dec 11.

Population Health Sciences, University of Bristol, Bristol, UK.

Background: Accumulating evidence suggests that breastfeeding benefits children's intelligence, possibly due to long-chain polyunsaturated fatty acids (LC-PUFAs) present in breast milk. Under a nutritional adequacy hypothesis, an interaction between breastfeeding and genetic variants associated with endogenous LC-PUFAs synthesis might be expected. However, the literature on this topic is controversial. Read More

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December 2018
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The Na+/H+ Exchanger Nhe1 Modulates Network Excitability via GABA Release.

Cereb Cortex 2018 Dec 12. Epub 2018 Dec 12.

Institute of Human Genetics, Jena University Hospital, Jena, Germany.

Brain functions are extremely sensitive to pH changes because of the pH-dependence of proteins involved in neuronal excitability and synaptic transmission. Here, we show that the Na+/H+ exchanger Nhe1, which uses the Na+ gradient to extrude H+, is expressed at both inhibitory and excitatory presynapses. We disrupted Nhe1 specifically in mice either in Emx1-positive glutamatergic neurons or in parvalbumin-positive cells, mainly GABAergic interneurons. Read More

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December 2018
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Redefining the practical utility of blood transcriptome biomarkers in inflammatory bowel diseases.

J Crohns Colitis 2018 Dec 12. Epub 2018 Dec 12.

Department of Genetics, Maria Sklodowska-Curie Institute - Oncology Centre, Warsaw, Poland.

Background And Aims: The study investigates the practical utility of whole blood gene expression profiling to diagnose inflammatory bowel diseases (IBDs).

Methods: The discovery cohorts included 102 and 51 pediatric IBD patients and controls, and 95 and 46 adult IBD patients and controls, respectively. The replication cohorts included 447 and 76 pediatric IBD patients and controls, and 271 and 108 adult IBD patients and controls, respectively. Read More

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December 2018
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Silencing the ACAT1 Gene in Human SH-SY5Y Neuroblastoma Cells Inhibits the Expression of Cyclo-Oxygenase 2 (COX2) and Reduces β-Amyloid-Induced Toxicity Due to Activation of Protein Kinase C (PKC) and ERK.

Med Sci Monit 2018 Dec 12;24:9007-9018. Epub 2018 Dec 12.

Department of Anatomy, Histology and Embryology, School of Basic Medical Sciences, Fudan University, Shanghai, China (mainland).

BACKGROUND Acyl-coenzymeA: cholesterol acyltransferase (ACAT) 1, a key enzyme converting excess free cholesterol to cholesterol esters, has been demonstrated to be associated with the pathogenesis of Alzheimer disease (AD). However, the mechanism underlying the protective role of ACAT1 blockage in AD progression remains elusive. MATERIAL AND METHODS Human neuroblastoma SH-SY5Y cells were treated for 24 h with increasing concentrations of aggregated Aβ₂₅₋₃₅ (5, 15, 25, and 45 μmol) with or without the ACAT1 siRNA pretreatment. Read More

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December 2018

CpG Island Methylator Phenotype May Predict Poor Overall Survival of Patients with Stage IV Colorectal Cancer.

Oncology 2018 Dec 12:1-8. Epub 2018 Dec 12.

Department of Oncology, National Taiwan University Hospital, Taipei City,

Objective: We aimed to study the prognostic role of CpG island methylator phenotype (CIMP) in patients with different stages of colorectal cancer (CRC).

Material And Methods: We analyzed CIMP in stage I-IV CRC specimens from patients who were diagnosed between 2005 and 2013. CIMP status was determined using a 5-gene MethyLight-based assay. Read More

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December 2018

How Online Family History Tool Design and Message Content Impact User Perceptions: An Examination of Family HealthLink.

Public Health Genomics 2018 Dec 12:1-14. Epub 2018 Dec 12.

Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, Ohio, USA.

Background: Family health history tools have the ability to improve health outcomes and promote patient-provider communication, but some research suggests their effectiveness is limited. Tool design features may heavily influence users' perceptions of the tools.

Aims: This study provides a summative evaluation of the Family HealthLink tool, which assesses cancer and coronary heart disease risk based on personal and family health history, to better understand how tool design and message content impact user perceptions. Read More

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December 2018

A Renewable Source of Human Beige Adipocytes for Development of Therapies to Treat Metabolic Syndrome.

Cell Rep 2018 Dec;25(11):3215-3228.e9

Center for Molecular Medicine, Maine Medical Center Research Institute, 81 Research Drive, Scarborough, ME 04074, USA; School of Biomedical Sciences and Engineering, The University of Maine, Orono, ME 04469, USA; Tufts University School of Medicine, 145 Harrison Avenue, Boston, MA 02111, USA. Electronic address:

Molecular- and cellular-based therapies have the potential to reduce obesity-associated disease. In response to cold, beige adipocytes form in subcutaneous white adipose tissue and convert energy stored in metabolic substrates to heat, making them an attractive therapeutic target. We developed a robust method to generate a renewable source of human beige adipocytes from induced pluripotent stem cells (iPSCs). Read More

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December 2018
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CDK Phosphorylation of Translation Initiation Factors Couples Protein Translation with Cell-Cycle Transition.

Cell Rep 2018 Dec;25(11):3204-3214.e5

Department of Microbiology and Molecular Genetics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX 77030, USA. Electronic address:

Protein translation in eukaryotes is cell-cycle dependent, with translation rates more robust in G1 phase of the cell cycle than in mitosis. However, whether the fundamental cell-cycle control machinery directly activates protein translation during the G1/S cell-cycle transition remains unknown. Using the early divergent eukaryote Trypanosoma brucei as a model organism, we report that the G1 cyclin-dependent kinase CRK1 phosphorylates two translation initiation factors, eIF4E4 and PABP1, to promote the G1/S cell-cycle transition and global protein translation. Read More

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December 2018

Ten-Eleven Translocation Proteins Modulate the Response to Environmental Stress in Mice.

Cell Rep 2018 Dec;25(11):3194-3203.e4

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA. Electronic address:

5-hydroxymethylcytosine (5hmC) is enriched in brain and has been recognized as an important DNA modification. However, the roles of 5hmC and its writers, ten-eleven translocation (Tet) proteins, in stress-induced response have yet to be elucidated. Here, we show that chronic restraint stress (CRS) induced depression-like behavior in mice and resulted in a 5hmC reduction in prefrontal cortex (PFC). Read More

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December 2018

Sh3rf2 Haploinsufficiency Leads to Unilateral Neuronal Development Deficits and Autistic-Like Behaviors in Mice.

Cell Rep 2018 Dec;25(11):2963-2971.e6

State Key Laboratory of Molecular Developmental Biology, CAS Center for Excellence in Brain Science and Intelligence Technology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China; Parkinson's Disease Center, Beijing Institute for Brain Disorders, Beijing 100101, China. Electronic address:

Autism spectrum disorders (ASDs) include a variety of developmental brain disorders with clinical findings implicating the dysfunction of the left hemisphere. Here, we generate mice lacking one copy of Sh3rf2, which was detected in ASD patients, to determine whether Sh3rf2 is involved in brain development and whether mutation of SH3RF2 is causative for ASD and the mechanisms linking it to ASD traits. We find that mice with Sh3rf2 haploinsufficiency display significant deficits in social interaction and communication, as well as stereotyped or repetitive behaviors and hyperactivity and seizures. Read More

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December 2018

Conformational stability and dynamics of the cancer-associated isoform Δ133p53β are modulated by p53 peptides and p53-specific DNA.

FASEB J 2018 Dec 12:fj201801973R. Epub 2018 Dec 12.

Basic Science Program, Leidos Biomedical Research, Inc., Cancer and Inflammation Program, National Cancer Institute, Frederick, Maryland, USA; and.

p53 is a tumor suppressor protein that maintains genome stability, but its Δ133p53β and Δ160p53β isoforms promote breast cancer cell invasion. The sequence truncations in the p53 core domain raise key questions related to their physicochemical properties, including structural stabilities, interaction mechanisms, and DNA-binding abilities. Herein, we investigated the conformational dynamics of Δ133p53β and Δ160p53β with and without binding to p53-specific DNA by using molecular dynamics simulations. Read More

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December 2018

Exploring the influence from whole blood DNA extraction methods on Infinium 450K DNA methylation.

PLoS One 2018 12;13(12):e0208699. Epub 2018 Dec 12.

Department of Pediatric Oncology and Hematology, Oslo University Hospital, Oslo, Norway.

Genome-wide DNA methylation studies are becoming increasingly important in unraveling the epigenetic basis of cell biology, aging and human conditions. The aim of the present study was to explore whether different methods for extracting DNA from whole blood can affect DNA methylation outcome, potentially confounding DNA methylation studies. DNA was isolated from healthy blood donors (n = 10) using three different extraction methods (i. Read More

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December 2018

Characterization of grapevine leafroll-associated virus 3 genetic variants and application towards RT-qPCR assay design.

PLoS One 2018 12;13(12):e0208862. Epub 2018 Dec 12.

Department of Plant Pathology, University of California-Davis, Davis, California, United States of America.

Grapevine leafroll-associated virus 3 (GLRaV-3) is the most widely prevalent and economically important of the complex of RNA viruses associated with grapevine leafroll disease (GLD). Phylogenetic studies have grouped GLRaV-3 isolates into nine different monophyletic groups and four supergroups, making GLRaV-3 a genetically highly diverse virus species. In addition, new divergent variants have been discovered recently around the world. Read More

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December 2018

Quality and quantity of leaf litter: Both are important for feeding preferences and growth of an aquatic shredder.

PLoS One 2018 12;13(12):e0208272. Epub 2018 Dec 12.

Department of Evolutionary Biology, Ecology and Environmental Sciences, Faculty of Biology, University of Barcelona, Barcelona, Spain.

The study of leaf litter as a resource for shredders has emerged as a key topic in trophic links in ecology. However, thus far, most studies have emphasized the leaf quality as one of the main determinants of shredder behaviour and growth without simultaneously considering the leaf quantity availability. Nevertheless, the combined effects of leaf quantity and quality on shredder behaviour and growth is particularly crucial to further understand how ecosystem functioning may respond to the increasing flow intermittency due to climate change. Read More

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December 2018

Genome-wide identification and characterization of gene family for RWP-RK transcription factors in wheat (Triticum aestivum L.).

PLoS One 2018 12;13(12):e0208409. Epub 2018 Dec 12.

Department of Genetics and Plant Breeding, CCS University, Meerut, India.

RWP-RKs represent a small family of transcription factors (TFs) that are unique to plants and function particularly under conditions of nitrogen starvation. These RWP-RKs have been classified in two sub-families, NLPs (NIN-like proteins) and RKDs (RWP-RK domain proteins). NLPs regulate tissue-specific expression of genes involved in nitrogen use efficiency (NUE) and RKDs regulate expression of genes involved in gametogenesis/embryogenesis. Read More

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December 2018
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Multiplexed CRISPR/Cas9-mediated knockout of 19 Fanconi anemia pathway genes in zebrafish revealed their roles in growth, sexual development and fertility.

PLoS Genet 2018 Dec 12;14(12):e1007821. Epub 2018 Dec 12.

Cancer Genomics Unit, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.

Fanconi Anemia (FA) is a genomic instability syndrome resulting in aplastic anemia, developmental abnormalities, and predisposition to hematological and other solid organ malignancies. Mutations in genes that encode proteins of the FA pathway fail to orchestrate the repair of DNA damage caused by DNA interstrand crosslinks. Zebrafish harbor homologs for nearly all known FA genes. Read More

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December 2018
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Heterochromatin delays CRISPR-Cas9 mutagenesis but does not influence the outcome of mutagenic DNA repair.

PLoS Biol 2018 Dec 12;16(12):e2005595. Epub 2018 Dec 12.

MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.

Genome editing occurs in the context of chromatin, which is heterogeneous in structure and function across the genome. Chromatin heterogeneity is thought to affect genome editing efficiency, but this has been challenging to quantify due to the presence of confounding variables. Here, we develop a method that exploits the allele-specific chromatin status of imprinted genes in order to address this problem in cycling mouse embryonic stem cells (mESCs). Read More

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December 2018

Decreased Fecal Bacterial Diversity and Altered Microbiome in Children Colonized With Clostridium difficile.

J Pediatr Gastroenterol Nutr 2018 Dec 11. Epub 2018 Dec 11.

Department of Medicine, Johns Hopkins University School of Medicine.

Objectives: The gut microbiome is believed to play a role in the susceptibility to and treatment of Clostridium difficile infections (CDIs). It is, however, unknown whether the gut microbiome is also affected by asymptomatic C difficile colonization. Our study aimed to evaluate the fecal microbiome of children based on C difficile colonization, and CDI risk factors, including antibiotic use and comorbid inflammatory bowel disease (IBD). Read More

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December 2018

Hemodynamic effects of the dipeptidyl peptidase-4 inhibitor linagliptin with renin-angiotensin system inhibitors in type 2 diabetic patients with albuminuria.

J Hypertens 2018 Dec 11. Epub 2018 Dec 11.

Boehringer Ingelheim International GmbH, Ingelheim.

Objective: Concomitant treatment with angiotensin-converting enzyme (ACE) inhibitors and dipeptidyl peptidase-4 (DPP-4) inhibitors is increasingly common. Pharmacological studies have suggested a potential adverse drug interaction between ACE inhibitors and DPP-4 inhibitors resulting in unfavorable hemodynamic changes; very few studies have examined such an interaction between angiotensin II receptor blockers (ARBs) and DPP-4 inhibitors. We investigated blood pressure (BP) and heart rate (HR) during treatment with the DPP-4 inhibitor linagliptin in individuals receiving either ACE inhibitors or ARBs in the MARLINA-T2D trial. Read More

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December 2018

Use of Well-Being in Identification of Members with Future Health Risk Factors and Future Diagnosed Chronic Disease.

J Occup Environ Med 2018 Dec 11. Epub 2018 Dec 11.

Research and Advanced Data Science, Sharecare, Inc, 701 Cool Springs Boulevard, Franklin, TN 37067 (Hamar, Jones, Rickles); Concert Genetics, Inc., 810 Crescent Center Drive, Suite 280, Franklin, TN 37067 (Coberley); Tivity Health, 701 Cool Springs Boulevard, Franklin, TN 37067 (Rula).

Objective: To evaluate if well-being is associated with the development of future health risks or incidence of new chronic disease.

Methods: A retrospective cohort study was employed using longitudinal well-being assessment survey data from participants of a Fortune 500 U.S. Read More

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December 2018

Gray-zone Lymphoma Between cHL and Large B-Cell Lymphoma: A Histopathologic Series From the LYSA.

Am J Surg Pathol 2018 Dec 11. Epub 2018 Dec 11.

INSERM1052, CNRS 5286, Lyon-Sud Charles Mérieux Lyon-1 Faculty, Claude Bernard University.

Gray-zone lymphoma (GZL) with features intermediate between classic Hodgkin lymphoma (cHL) and large B-cell lymphoma (LBCL) was introduced as a provisional entity into the World Health Organization classification in 2008. However, as diagnostic criteria are imprecise, reliable identification of GZL cases remains challenging. Here, we describe the histopathologic features of 139 GZL cases from a retrospective Lymphoma Study Association (LYSA) study with the goal to improve classification accuracy. Read More

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December 2018

Chemical activation of the ethylene signalling pathway promotes Fusarium graminearum resistance in detached wheat heads.

Phytopathology 2018 Dec 12. Epub 2018 Dec 12.

University of Lethbridge, Department of Biological Sciences, Lethbridge, Alberta, Canada ;

Plant signalling hormones, such as ethylene, have been shown to affect the host response to various pathogens. Often the resistance responses to necrotrophic fungi are mediated through synergistic interactions of ethylene (ET) with the jasmonate signalling pathway. On the other hand, ethylene is also an inducer of senescence and cell death, which could be beneficial for some invading necrotrophic pathogens. Read More

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December 2018

Single molecule dynamics of the P granule scaffold MEG-3 in the C. elegans zygote.

Mol Biol Cell 2018 Dec 12:mbcE18060402. Epub 2018 Dec 12.

Department of Biological Sciences, Dartmouth College, Hanover NH 03755, USA.

During the asymmetric division of the C. elegans zygote, germ (P) granules are disassembled in the anterior cytoplasm and stabilized/assembled in the posterior cytoplasm, leading to their inheritance by the germline daughter cell. P granule segregation depends on MEG-3 and MEG-4, which are enriched in P granules and in the posterior cytoplasm surrounding P granules. Read More

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December 2018

Peroxisomes can oxidize medium- and long-chain fatty acids through a pathway involving ABCD3 and HSD17B4.

FASEB J 2018 Dec 12:fj201801498R. Epub 2018 Dec 12.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

Peroxisomes are essential organelles for the specialized oxidation of a wide variety of fatty acids, but they are also able to degrade fatty acids that are typically handled by mitochondria. Using a combination of pharmacological inhibition and clustered regularly interspaced short palindromic repeats (CRISPR)-CRISPR associated protein 9 genome editing technology to simultaneously manipulate peroxisomal and mitochondrial fatty acid β-oxidation (FAO) in HEK-293 cells, we identified essential players in the metabolic crosstalk between these organelles. Depletion of carnitine palmitoyltransferase (CPT)2 activity through pharmacological inhibition or knockout (KO) uncovered a significant residual peroxisomal oxidation of lauric and palmitic acid, leading to the production of peroxisomal acylcarnitine intermediates. Read More

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December 2018

PD-1 Polymorphisms Are Associated with Susceptibility of Acute Anterior Uveitis in Chinese Population.

DNA Cell Biol 2018 Dec 12. Epub 2018 Dec 12.

1 The Eye Hospital of Wenzhou Medical University, School of Ophthalmology and Optometry, Wenzhou Medical University , Wenzhou, Zhejiang, China .

Acute anterior uveitis (AAU) is an ordinary type of uveitis, which is an autoimmune disease produced by T cells. Programmed apoptosis protein 1 (PD-1) is a vital negative regulatory protein of immune tolerance. We detect the single nucleotide polymorphisms (SNPs) rs41386349, rs10204525, and rs2227982 of PD-1 to investigate the correlation between PD-1 polymorphisms and AAU. Read More

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December 2018

Guidelines Do Not Proscribe Surgeons Performing Genetic Testing.

JAMA Surg 2018 Dec 12. Epub 2018 Dec 12.

OasisMD Lifestyle Healthcare, San Diego, California.

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December 2018

Meeting report from the Companion Animal Genetic Health conference 2018 (CAGH 2018): a healthy companionship: the genetics of health in dogs.

Canine Genet Epidemiol 2018 29;5(Suppl 1). Epub 2018 Aug 29.

2The Royal (Dick) School for Veterinary Studies and Roslin Institute, University of Edinburgh, Easter Bush, Midlothian, UK.

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Role of the pre-initiation complex in Mediator recruitment and dynamics.

Elife 2018 Dec 12;7. Epub 2018 Dec 12.

Department of Biomedical Sciences, University at Albany School of Public Health, Albany, United States.

The Mediator complex stimulates the cooperative assembly of a pre-initiation complex (PIC) and recruitment of RNA Polymerase II (Pol II) for gene activation. The core Mediator complex is organized into head, middle, and tail modules, and in budding yeast (), Mediator recruitment has generally been ascribed to sequence-specific activators engaging the tail module triad of Med2-Med3-Med15 at upstream activating sequences (UASs). We show that yeast lacking Med2-Med3-Med15 are viable and that Mediator and PolII are recruited to promoters genome-wide in these cells, albeit at reduced levels. Read More

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December 2018

Reclassification of Paenibacillus thermophilus Zhou et al. 2013 as a later heterotypic synonym of Paenibacillus macerans (Schardinger 1905) Ash et al. 1994.

Int J Syst Evol Microbiol 2018 Dec 12. Epub 2018 Dec 12.

1​Central Region Agricultural Research Center, National Agriculture and Food Research Organization, Nasushiobara, Tochigi 329-2793, Japan.

The taxonomic status of Paenibacillus thermophilus was analyzed using genomic and phenotypic approaches. The results of RNA polymerase beta subunit gene sequence comparisons indicated that two type strains of P. thermophilus (DSM 24746 and JCM 17693) and Paenibacillus macerans ATCC 8244 shared 100 % sequence similarity. Read More

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December 2018

ASSOCIATION OF PROMOTER REGION POLYMORPHISMS OF INTERLEUKIN-10 GENE WITH SUSCEPTIBILITY TO COLORECTAL CANCER: A SYSTEMATIC REVIEW AND META-ANALYSIS.

Arq Gastroenterol 2018 Jul-Sep;55(3):306-313

Shahid Sadoughi University of Medical Sciences, Department of Medical Genetics, Yazd, Iran.

Background: Several epidemiological studies have investigated the association of promoter region polymorphisms of Interleukin-10 (IL-10) gene with colorectal cancer (CRC), while the conclusion is still conflicting and inconclusive.

Objective: We conducted this meta-analysis to evaluate the association of promoter region polymorphisms of IL-10 with CRC.

Methods: Eligible articles were identified by a search of several bibliographic databases for the period up to March 15, 2018. Read More

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Correction for Rosa et al., "Draft Genome Sequence of the (syn., ) Type Strain CBS 9494".

Microbiol Resour Announc 2018 Sep 13;7(10). Epub 2018 Sep 13.

ISVV, Oenology Research Unit EA 4577, USC 1366 INRA, Bordeaux INP, University of Bordeaux, Bordeaux, Villenave d'Ornon, France.

[This corrects the article DOI: 10.1128/MRA.00872-18. Read More

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September 2018

A Novel Mutation in a 9-Month-Old Male Infant with Epileptic Spasms.

Chin Med J (Engl) 2018 Dec;131(24):2991-2992

Department of Genetics, Capital Institute of Pediatrics, Beijing 100020, China.

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December 2018

Diagnosis of Spinal Muscular Atrophy: A Simple Method for Quantifying the Relative Amount of Survival Motor Neuron Gene 1/2 Using Sanger DNA Sequencing.

Chin Med J (Engl) 2018 Dec;131(24):2921-2929

Department of Medical Genetics, Capital Institute of Pediatrics, Beijing 100020, China.

Background: Spinal muscular atrophy (SMA) is caused by homozygous deletion or compound heterozygous mutation of survival motor neuron gene 1 (SMN1), which is the key to diagnose SMA. The study was to establish and evaluate a new diagnostic method for SMA.

Methods: A total of 1494 children suspected with SMA were enrolled in this study. Read More

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December 2018
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Radioprotective effect of melatonin on expression of and genes in rat peripheral blood.

J Cancer Res Ther 2018 Dec;14(Supplement):S1070-S1075

Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

Objective: Ionizing radiation is a critical threat to biomolecules, especially DNA. Various combinatorial compounds have been studied to protect this biomolecule. Melatonin has been reported as a direct and indirect free radical scavenger, but in this study, we explored the effect of melatonin on assisting in DNA repair by expression of Cdkn1a and Rad50; both of these genes are involved in DNA repair signaling, induced by radiation in rat peripheral blood. Read More

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December 2018

Ethanol exposed maturing rat cerebellar granule cells show impaired energy metabolism and increased cell death after oxygen-glucose deprivation.

Neural Regen Res 2019 Mar;14(3):485-490

Division of Physiology and Neuroscience, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.

Alcohol, a widely abused drug, has deleterious effects on the immature nervous system. This study investigates the effect of chronic in vitro ethanol exposure on the metabolism of immature rat cerebellar granular cells (CGCs) and on their response to oxygen-glucose deprivation (OGD). Primary CGC cultures were exposed to ethanol (100 mM in culture medium) or to control ethanol-free medium starting day one in vitro (DIV1). Read More

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