3,451,622 results match your criteria GENETICS [Journal]


Molecular alterations in meningiomas: Literature review.

Clin Neurol Neurosurg 2018 Dec 7;176:89-96. Epub 2018 Dec 7.

Departament of Neurology, Laboratory of Molecular and Cellular Biology, LIM15, Faculdade de Medicina, Universidade de São Paulo, SP, Brazil.

Meningiomas, tumors that originate from meningothelial cells, account for approximately 30% of all new diagnoses of central nervous system neoplasms. According to the 2016 WHO classification of central nervous system tumors meningiomas are classified into three grades: I, II, and III. Past studies have shown that the risk of meningiomas recurrence is strongly correlated with the molecular profile of the tumor. Read More

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December 2018
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Harmonization of pipeline for preclinical multicenter plasma protein and miRNA biomarker discovery in a rat model of post-traumatic epileptogenesis.

Epilepsy Res 2018 Nov 26;149:92-101. Epub 2018 Nov 26.

A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland.

The Epilepsy Bioinformatics Study for Antiepileptogenic Therapy (EpiBioS4Rx) is an international, multicenter, multidisciplinary study aimed at preventing epileptogenesis (EpiBioS4Rx: https://epibios.loni.usc. Read More

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November 2018
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Genetic susceptibility to Tuberculosis: Interaction between HLA-DQA1 and age of onset.

Infect Genet Evol 2018 Dec 12. Epub 2018 Dec 12.

Department of Microbiology, The Chinese University of Hong Kong, Hong Kong, China.

Several genome-wide association studies (GWAS) identified new single nucleotide polymorphisms (SNPs) with susceptibility to Tuberculosis (TB). However, many of them were not replicated across ethnic groups. The cause of this phenomenon of genetic heterogeneity is uncertain. Read More

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December 2018
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Effective communication in the era of precision medicine: A pilot intervention with low health literacy patients to improve genetic counseling communication.

Eur J Med Genet 2018 Dec 12. Epub 2018 Dec 12.

Department of Social & Behavioral Sciences, University of California, San Francisco, United States.

Effective communication, where all parties share a common understanding, is necessary to realize the promise of Genomic Medicine. It is especially salient given the imperative to increase the participation of diverse populations in genomics research and to expand the reach of clinical genomics. We have previously shown that cancer genetic counseling is suboptimal for patients with limited health literacy. Read More

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December 2018
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Characterization of HPV integration, viral gene expression and E6E7 alternative transcripts by RNA-Seq: A descriptive study in invasive cervical cancer.

Genomics 2018 Dec 12. Epub 2018 Dec 12.

Genetics Program, Instituto Nacional de Câncer (INCA), Rio de Janeiro, Brazil. Electronic address:

Scarce data are available on the expression of Papillomavirus genome and the frequency of alternatively spliced E6/E7 mRNAs in invasive cervical cancer. We carried out a comprehensive characterization of HPV expression by RNA-Seq analysis in 22 invasive cervical cancer with HPV16 or HPV18, characterizing the presence of integrated/episomal viral DNA, the integration sites in human genome and the proportion of alternative splicing products of E6 and E7 genes. The expression patterns suggested the presence of episomal and/or integrated viral DNA, with integration detected in most tumors, frequently occurring within human genes in HPV18+ and in intergenic regions in HPV16+ tumors. Read More

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December 2018

Pathophysiological Mechanisms Implicated in Postpartum Depression.

Front Neuroendocrinol 2018 Dec 12. Epub 2018 Dec 12.

Department of Neuroscience, Tufts University School of Medicine, Boston, MA, 02111, USA. Electronic address:

This review aims to summarize the diverse proposed pathophysiological mechanisms contributing to postpartum depression, highlighting both clinical and basic science research findings. The risk factors for developing postpartum depression are discussed, which may provide insight into potential neurobiological underpinnings. The evidence supporting a role for neuroendocrine changes, neuroinflammation, neurotransmitter alterations, circuit dysfunction, and the involvement of genetics and epigenetics in the pathophysiology of postpartum depression are discussed. Read More

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December 2018

The influence of the OPRM1 (A118G) polymorphism on behavioral and neural correlates of aggression in healthy males.

Neuropharmacology 2018 Dec 12. Epub 2018 Dec 12.

Department of Psychiatry, Psychotherapy and Psychosomatics, Faculty of Medicine, RWTH Aachen University, 52074, Aachen, Germany; JARA Institute Brain Structure Function Relationship Institute for Neuroscience and Medicine (INM 10), Forschungszentrum Jülich, 52425 Jülich, Germany.

Current models of aggression suggest that in addition to personality traits and environmental factors, biological vulnerability associated with genetics substantially impacts aggressive behavior. In a functional imaging study, we investigated the influence of the single nucleotide polymorphism of the mu 1 subtype opioid receptor gene (OPRM1), implicated in sociability, on correlates of trait and state aggression to delineate the function of these influences in aggression. A key aim was further to differentiate different aspects of aggressive reactions - namely, the reaction to provocation and the decision to punish an opponent. Read More

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December 2018

Improving the quality and workflow of bacterial genome sequencing and analysis: paving the way for a Switzerland-wide molecular epidemiological surveillance platform.

Swiss Med Wkly 2018 Dec 15;148:w14693. Epub 2018 Dec 15.

SIB Swiss Institute of Bioinformatics, Lausanne, Switzerland.

Facing multidrug resistant (MDR) bacterial pathogens is one of the most important challenges for our society. The spread of highly virulent and resistant pathogens can be described using molecular typing technologies; in particular, whole genome sequencing (WGS) data can be used for molecular typing purposes with high resolution. WGS data analysis can explain the spatiotemporal patterns of pathogen transmission. Read More

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December 2018
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Role of host genetics and heat tolerant algal symbionts in sustaining populations of the endangered coral Orbicella faveolata in the Florida Keys with ocean warming.

Glob Chang Biol 2018 Dec 15. Epub 2018 Dec 15.

Atlantic Oceanographic and Meteorological Laboratories (AOML), NOAA, 4301 Rickenbacker Cswy, Miami, FL, 33149 USA.

Identifying which factors lead to coral bleaching resistance is a priority given the global decline of coral reefs with ocean warming. During the second year of back-to-back bleaching events in the Florida Keys in 2014 and 2015, we characterized key environmental and biological factors associated with bleaching resilience in the threatened reef-building coral Orbicella faveolata. Ten reefs (five inshore, five offshore, 179 corals total) were sampled during bleaching (September 2015) and recovery (May 2016). Read More

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December 2018
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NRAS Q61R and BRAF G466A Mutations in Atypical Melanocytic Lesions Newly Arising in Advanced Melanoma Patients Treated with Vemurafenib.

J Cutan Pathol 2018 Dec 14. Epub 2018 Dec 14.

Department of Dermatology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.

Background: BRAF inhibition has improved overall survival in patients with BRAF mutant melanoma but this is associated with a range of known and predictable cutaneous side effects, including squamous cell carcinomas associated with RAS mutations.

Methods: We identified three severely dysplastic nevi, one atypical intraepidermal melanocytic proliferation, and four melanoma in situ lesions, newly arising in four patients undergoing treatment with vemurafenib. To characterize mutations in these atypical melanocytic lesions, we used a custom iPlex panel detecting 74 mutations in 13 genes known to play a role in melanoma pathogenesis. Read More

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December 2018

Genetic polymorphisms of miRNA let7a-2 and pri-mir-34b/c are associated with an increased risk of papillary thyroid carcinoma and clinical/pathological features.

J Cell Biochem 2018 Dec 14. Epub 2018 Dec 14.

Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran.

microRNAs (miRNAs) as a group of short noncoding RNAs are crucial molecules in transcriptional and translational regulation of oncogenes and tumor suppressor genes. Evidence showed there was an association between the miRNA polymorphisms and various cancers, including papillary thyroid carcinoma (PTC). The present study aims to evaluate the possible effects of let7a-2 rs1143770 and pri-mir-34b/c rs4938723 polymorphisms on PTC susceptibility. Read More

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December 2018

Primate neocortex development and evolution - conserved versus evolved folding.

J Comp Neurol 2018 Dec 15. Epub 2018 Dec 15.

Max Planck Institute of Molecular Cell Biology and Genetics, Dresden, Germany.

The neocortex, the seat of higher cognitive functions, exhibits a key feature across mammalian species - a highly variable degree of folding. Within the neocortex, two distinct subtypes of cortical areas can be distinguished, the isocortex and the proisocortex. Here, we have compared specific spatiotemporal aspects of folding between the proisocortex and the isocortex in 13 primates, including human, chimpanzee, and various Old World and New World monkeys. Read More

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December 2018
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Demographic and genetic description of Greenland´s only indigenous Atlantic salmon Salmo salar population.

J Fish Biol 2018 Dec 15. Epub 2018 Dec 15.

Department of Biology, Norwegian University of Science and Technology, Trondheim, Norway.

A survey of the Kapisillit River system was conducted in 2005 and 2012 to study the only indigenous Atlantic salmon Salmo salar population in Greenland. Little is known about its characteristics or its relationship with other S. salar populations across the species range. Read More

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December 2018

Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T.

Breast Cancer Res Treat 2018 Dec 14. Epub 2018 Dec 14.

Oncogenetics Group, Vall d'Hebron Institute of Oncology, VHIO, 08035, Barcelona, Spain.

Purpose: Disruption of splicing motifs by genetic variants can affect the correct generation of mature mRNA molecules leading to aberrant transcripts. In some cases, variants may alter the physiological transcription profile composed of several transcripts, and an accurate in vitro evaluation is crucial to establish their pathogenicity. In this study, we have characterized a novel PALB2 variant c. Read More

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December 2018

The expression levels of miRNA-15a and miRNA-16-1 in circulating tumor cells of patients with diffuse large B-cell lymphoma.

Mol Biol Rep 2018 Dec 14. Epub 2018 Dec 14.

Department of Cancer Genetics, Istanbul Faculty of Medicine, Oncology Institute, Istanbul University, Istanbul, Turkey.

MicroRNAs (miRNAs) have major roles in nearly all cellular process including gene expression, and may behave as oncogene or tumor suppressor gene by binding to complementary sequences in the target mRNA. The circulating microRNA-15a (miRNA-15a) and microRNA-16-1 (miRNA-16-1) of 15 healthy adults and of 40 untreated patients diagnosed with diffuse large B-cell lymphoma (DLBC) were recruited to investigate the expression levels. The expression levels of miRNA-15a, and miRNA-16-1 genes of the untreated DLBCL patients, and healthy individuals with matched age, sex and ethnicity were examined. Read More

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December 2018
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Polymorphisms in XPC gene and risk for prostate cancer.

Mol Biol Rep 2018 Dec 14. Epub 2018 Dec 14.

Laboratory of Protein Engineering and Bio-active Molecules, National Institute of Applied Science and Technology - University of Carthage, Tunis, Tunisia.

Single nucleotide polymorphisms (SNP) in repair gene DNA such as XPC gene can reduce the DNA repair capacity (DRC). Reduced DRC induce genetic instability and may increase the susceptibility to prostate cancer (PC). We conducted a case-controls study to examine the relationship between XPC Lys939Gln and XPC-PAT polymorphisms and the risk for prostate cancer in Tunisian population. Read More

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December 2018
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Evaluation of the potential clinical prognostic value of lncRNA-BANCR gene in esophageal squamous cell carcinoma.

Mol Biol Rep 2018 Dec 14. Epub 2018 Dec 14.

Department of Molecular Genetics, Ahar Branch, Islamic Azad University, Ahar, Iran.

Esophageal squamous cell carcinoma (ESCC) is the seventh most common cause of cancer death in worldwide. LncRNA-BANCR is a long non-coding RNA (lncRNA), which has made new windows in cancer investigations. The aim of this survey was to determine the lncRNA-BANCR gene expression changes in patients with ESCC. Read More

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December 2018

Strongyloides stercoralis infection in imported and local dogs in Switzerland: from clinics to molecular genetics.

Parasitol Res 2018 Dec 14. Epub 2018 Dec 14.

Small Animal Clinic, Vetsuisse Faculty, University of Bern, Bern, Switzerland.

Strongyloides stercoralis is a worldwide-distributed intestinal nematode affecting mainly humans and dogs. Canine strongyloidosis is generally characterised by diarrhoea, malabsorption and bronchopneumonia, and may be fatal in cases of impaired immunity. In recent years, molecular and epidemiological studies suggested that host-adapted populations of S. Read More

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December 2018

Therapeutic potentials of the Rho kinase inhibitor Fasudil in experimental autoimmune encephalomyelitis and the related mechanisms.

Metab Brain Dis 2018 Dec 14. Epub 2018 Dec 14.

Institute of Brain Science, Shanxi Datong University, Datong, China.

Multiple sclerosis (MS), Parkinson's disease (PD), Alzheimer's disease (AD), and other neurodegenerative diseases of central nervous system (CNS) disorders are serious human health problems. Rho-kinase (ROCK) is emerging as a potentially important therapeutic target relevant to inflammatory neurodegeneration diseases. This is supported by studies showing the beneficial effects of fasudil, a ROCK inhibitor, in inflammatory neurodegeneration diseases. Read More

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December 2018

[Glaucoma and nanophthalmos].

Ophthalmologe 2018 Dec 14. Epub 2018 Dec 14.

Zentrum für Augenheilkunde, Uniklinik Köln, Joseph-Stelzmann Str. 9, 50931, Köln, Deutschland.

The term nanophthalmos refers to a clinically small eye that appears morphologically normal. A nanophthalmos is characterized by hyperopia but can also be associated with various secondary pathologies, such as angle-closure glaucoma. In particular, the perioperative risks associated with a nanophthalmic eye necessitate examination of the anatomical characteristics, which can result from the disproportional size of intraocular tissues despite structural normality. Read More

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December 2018

The Use of Platelet-Rich Plasma in Aesthetic and Regenerative Medicine: A Comprehensive Review.

Aesthetic Plast Surg 2018 Dec 14. Epub 2018 Dec 14.

Department of Molecular Medicine and Genetics, Research Center for Molecular Medicine, Faculty of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran.

Introduction: In recent years, platelet-rich plasma (PRP) has emerged as a promising autologous biological treatment modality for the use in aesthetic and regenerative medicine. PRP is a high concentration of platelets derived from whole blood which is isolated by centrifugation to separate and concentrate platelet-containing plasma from red blood cells. PRP comprises hundreds of bioactive proteins, including growth factors, peptides, and cytokines that stimulate healing of skin and soft tissues. Read More

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December 2018
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Correction to: Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres.

Ann Hematol 2018 Dec 14. Epub 2018 Dec 14.

Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, Rome, Italy.

The original version of this article contained a mistake in the affiliation of E. Bellacchio. Correct affiliation is presented here. Read More

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December 2018

Mitogen-activated protein kinases MPK3 and MPK6 are required for stem cell maintenance in the Arabidopsis shoot apical meristem.

Plant Cell Rep 2018 Dec 14. Epub 2018 Dec 14.

Department of Molecular Biology and Center for Computational and Integrative Biology, Massachusetts General Hospital, Boston, USA.

Key Message: CLV3p-mediated phosphorylation of MPK3 and MPK6 occurs via CLV1 and BAM1 receptors to regulate the maintenance of SAM development. The CLAVATA peptide-receptor (CLV3p-CLV1) pathway modulates a homeodomain master regulator WUSCHEL (WUS) transcription factor in the shoot apical meristem (SAM) with poorly defined signaling mechanisms. Here, we report that mitogen-activated protein kinases (MAPKs, also known as MPKs in plants) act in an intracellular signaling cascade to play an important role in the maintenance of SAM development. Read More

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December 2018

Hydration differences between the major and minor grooves of DNA revealed from heat capacity measurements.

Eur Biophys J 2018 Dec 14. Epub 2018 Dec 14.

Biophysics Laboratories, School of Biology, University of Portsmouth, Portsmouth, PO1 2DT, UK.

The nature of water on the surface of a macromolecule is reflected in the temperature dependence of the heat effect, i.e., the heat capacity change, ΔCp, that accompanies its removal on forming a complex. Read More

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December 2018
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The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.

Eur J Hum Genet 2018 Dec 14. Epub 2018 Dec 14.

Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, 8952, Switzerland.

Early-onset epileptic encephalopathy (EE) and combined developmental and epileptic encephalopathies (DEE) are clinically and genetically heterogeneous severely devastating conditions. Recent studies emphasized de novo variants as major underlying cause suggesting a generally low-recurrence risk. In order to better understand the full genetic landscape of EE and DEE, we performed high-resolution chromosomal microarray analysis in combination with whole-exome sequencing in 63 deeply phenotyped independent patients. Read More

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December 2018

Skewed X-inactivation is common in the general female population.

Eur J Hum Genet 2018 Dec 14. Epub 2018 Dec 14.

Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.

X-inactivation is a well-established dosage compensation mechanism ensuring that X-chromosomal genes are expressed at comparable levels in males and females. Skewed X-inactivation is often explained by negative selection of one of the alleles. We demonstrate that imbalanced expression of the paternal and maternal X-chromosomes is common in the general population and that the random nature of the X-inactivation mechanism can be sufficient to explain the imbalance. Read More

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December 2018
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A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing.

Eur J Hum Genet 2018 Dec 14. Epub 2018 Dec 14.

CHRU Montpellier, Laboratoire de Génétique moléculaire, Montpellier, France.

Next-generation sequencing (NGS) gene-panel-based analyses constitute diagnosis strategies which are adapted to the genetic heterogeneity within the field of myopathies, including more than 200 implicated genes to date. Nonetheless, important inter-laboratory diversity of gene panels exists at national and international levels, complicating the exchange of data and the visibility of the diagnostic offers available for referring neurologists. To address this issue, we here describe the initiative of the genetic diagnosis section of the French National Network for Rare Neuromuscular Diseases (Filière Nationale des Maladies Rares Neuromusculaires, FILNEMUS), which led to set up a consensual nationwide diagnostic strategy among the nine French genetic diagnosis laboratories using NGS for myopathies. Read More

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December 2018

Genome-wide mapping of nucleotide excision repair with XR-seq.

Nat Protoc 2018 Dec 14. Epub 2018 Dec 14.

Department of Biochemistry and Biophysics, University of North Carolina School of Medicine, Chapel Hill, NC, USA.

Nucleotide excision repair is a versatile mechanism to repair a variety of bulky DNA adducts. We developed excision repair sequencing (XR-seq) to study nucleotide excision repair of DNA adducts in humans, mice, Arabidopsis thaliana, yeast and Escherichia coli. In this protocol, the excised oligomers, generated in the nucleotide excision repair reaction, are isolated by cell lysis and fractionation, followed by immunoprecipitation with damage- or repair factor-specific antibodies from the non-chromatin fraction. Read More

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December 2018

Minimal residual disease quantification by flow cytometry provides reliable risk stratification in T-cell acute lymphoblastic leukemia.

Leukemia 2018 Dec 14. Epub 2018 Dec 14.

Department of Clinical Immunology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.

Minimal residual disease (MRD) measured by PCR of clonal IgH/TCR rearrangements predicts relapse in T-cell acute lymphoblastic leukemia (T-ALL) and serves as risk stratification tool. Since 10% of patients have no suitable PCR-marker, we evaluated flowcytometry (FCM)-based MRD for risk stratification. We included 274 T-ALL patients treated in the NOPHO-ALL2008 protocol. Read More

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December 2018

Comparison of three variant callers for human whole genome sequencing.

Sci Rep 2018 Dec 14;8(1):17851. Epub 2018 Dec 14.

Computational Biology Unit, Institute of Informatics, University of Bergen, Bergen, Norway.

Testing of patients with genetics-related disorders is in progress of shifting from single gene assays to gene panel sequencing, whole-exome sequencing (WES) and whole-genome sequencing (WGS). Since WGS is unquestionably becoming a new foundation for molecular analyses, we decided to compare three currently used tools for variant calling of human whole genome sequencing data. We tested DeepVariant, a new TensorFlow machine learning-based variant caller, and compared this tool to GATK 4. Read More

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December 2018

Development of transgenic Caenorhabditis elegans expressing human transthyretin as a model for drug screening.

Sci Rep 2018 Dec 14;8(1):17884. Epub 2018 Dec 14.

Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Chuo-ku, Kumamoto, 860-8556, Japan.

Familial amyloid polyneuropathy is a hereditary systemic amyloidosis caused by a mutation in the transthyretin (TTR) gene. Amyloid deposits in tissues of patients contain not only full-length TTR but also C-terminal TTR fragments. However, in vivo models to evaluate the pathogenicity of TTR fragments have not yet been developed. Read More

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December 2018

Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9.

Nat Commun 2018 Dec 14;9(1):5319. Epub 2018 Dec 14.

Murdoch Children's Research Institute, Melbourne, 3052, VIC, Australia.

Disorders of sex development (DSDs) are conditions affecting development of the gonads or genitalia. Variants in two key genes, SRY and its target SOX9, are an established cause of 46,XY DSD, but the genetic basis of many DSDs remains unknown. SRY-mediated SOX9 upregulation in the early gonad is crucial for testis development, yet the regulatory elements underlying this have not been identified in humans. Read More

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December 2018
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miR-122 removal in the liver activates imprinted microRNAs and enables more effective microRNA-mediated gene repression.

Nat Commun 2018 Dec 14;9(1):5321. Epub 2018 Dec 14.

Department of Pediatrics, Stanford University, Stanford, 94305, CA, USA.

miR-122 is a highly expressed liver microRNA that is activated perinatally and aids in regulating cholesterol metabolism and promoting terminal differentiation of hepatocytes. Disrupting expression of miR-122 can re-activate embryo-expressed adult-silenced genes, ultimately leading to the development of hepatocellular carcinoma (HCC). Here we interrogate the liver transcriptome at various time points after genomic excision of miR-122 to determine the cellular consequences leading to oncogenesis. Read More

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December 2018

TGNap1 is required for microtubule-dependent homeostasis of a subpopulation of the plant trans-Golgi network.

Nat Commun 2018 Dec 14;9(1):5313. Epub 2018 Dec 14.

MSU-DOE Plant Research Lab, Michigan State University, East Lansing, MI, 48824, USA.

Defining convergent and divergent mechanisms underlying the biogenesis and function of endomembrane organelles is fundamentally important in cell biology. In all eukaryotes, the Trans-Golgi Network (TGN) is the hub where the exocytic and endocytic pathways converge. To gain knowledge in the mechanisms underlying TGN biogenesis and function, we characterized TGNap1, a protein encoded by a plant gene of unknown function conserved with metazoans. Read More

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December 2018

Functional genomic analysis identifies miRNA repertoire regulating C. elegans oocyte development.

Nat Commun 2018 Dec 14;9(1):5318. Epub 2018 Dec 14.

Program in Developmental Biology, Baylor College of Medicine, Houston, TX, 77030, USA.

Oocyte-specific miRNA function remains unclear in mice and worms because loss of Dgcr8 and Dicer from mouse and worm oocytes, respectively, does not yield oogenic defects. These data lead to several models: (a) miRNAs are not generated in oocytes; (b) miRNAs are generated but do not perform an oogenic function; (c) functional oocyte miRNAs are generated in a manner independent of these enzymes. Here, we test these models using a combination of genomic, expression and functional analyses on the C. Read More

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December 2018

Exploratory genome-wide association analysis of response to ketamine and a polygenic analysis of response to scopolamine in depression.

Transl Psychiatry 2018 Dec 14;8(1):280. Epub 2018 Dec 14.

Statistical Genomics and Data Analysis Core, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.

Growing evidence suggests that the glutamatergic modulator ketamine has rapid antidepressant effects in treatment-resistant depressed subjects. The anticholinergic agent scopolamine has also shown promise as a rapid-acting antidepressant. This study applied genome-wide markers to investigate the role of genetic variants in predicting acute antidepressant response to both agents. Read More

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December 2018

Pan-cancer analysis of transcriptional metabolic dysregulation using The Cancer Genome Atlas.

Nat Commun 2018 Dec 14;9(1):5330. Epub 2018 Dec 14.

Department of Cancer Genetics and Genomics, Roswell Park Cancer Institute, Buffalo, 14263, NY, USA.

Understanding metabolic dysregulation in different disease settings is vital for the safe and effective incorporation of metabolism-targeted therapeutics in the clinic. Here, using transcriptomic data for 10,704 tumor and normal samples from The Cancer Genome Atlas, across 26 disease sites, we present a novel bioinformatics pipeline that distinguishes tumor from normal tissues, based on differential gene expression for 114 metabolic pathways. We confirm pathway dysregulation in separate patient populations, demonstrating the robustness of our approach. Read More

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December 2018

Proteins, transcripts, and genetic architecture of seminal fluid and sperm in the mosquito .

Mol Cell Proteomics 2018 Dec 14. Epub 2018 Dec 14.

Biology & Biochemistry, Syracuse University, United States of America

The yellow fever mosquito, , transmits several viruses causative of serious diseases, including dengue, Zika, and chikungunya. Some proposed efforts to control this vector involve manipulating reproduction to suppress wild populations or to replace them with disease-resistant mosquitoes. The design of such strategies requires an intimate knowledge of reproductive processes, yet our basic understanding of reproductive genetics in this vector remains largely incomplete. Read More

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December 2018
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The ferredoxin-like protein, FerR, regulates PrbP activity in .

Appl Environ Microbiol 2018 Dec 14. Epub 2018 Dec 14.

Microbiology and Cell Science Department, Genetics Institute, Institute of Food and Agricultural Science, University of Florida, Gainesville, Florida, United States

In , PrbP is an important transcriptional accessory protein that regulates gene expression through interactions with the RNA polymerase β-subunit and a specific sequence on the promoter region. The constitutive expression of observed upon chemical inactivation of PrbP/DNA interactions indicated that the expression of was not auto-regulated at the level of transcription. This observation suggested that a modulatory mechanism via protein-protein interactions maybe involved. Read More

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December 2018
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Population genetics and characterization of isolates in western jackdaws and game birds in Finland.

Appl Environ Microbiol 2018 Dec 14. Epub 2018 Dec 14.

Department of Food Hygiene and Environmental Health, Faculty of Veterinary Medicine, University of Helsinki, Helsinki, FI-00014, Finland

Poultry is considered a major reservoir and source of human campylobacteriosis but the roles of environmental reservoirs, including wild birds, have not been assessed in depth. In this study, we isolated and characterized from western jackdaws (n=91, 43%), mallard ducks (n=82, 76%) and pheasants (n=9, 9%). Most of the western jackdaw and mallard duck isolates represented MLST sequence types (STs) that diverged from those previously isolated from human patients and various animal species, whereas all pheasant isolates represented ST-19, a common ST among human patients and other hosts worldwide. Read More

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December 2018

A combination of linalool, vitamin C, and copper synergistically trigger Reactive Oxygen Species, DNA damage and inhibits subsp. serovar Typhi and .

Appl Environ Microbiol 2018 Dec 14. Epub 2018 Dec 14.

Chemical Biology Laboratory, Department of Biotechnology, Indian Institute of Technology Roorkee, Uttarakhand 247 667, India.

Inappropriate and disproportionate use of antibiotics is contributing immensely to the development of antibiotic resistance in bacterial species associated with food contamination. Use of natural products in combination can be a potent alternative hurdle strategy to inactivate foodborne pathogens. Here, we explored pro-oxidant properties of essential oil inalool and itamin C in combination with opper (LVC) in combating foodborne pathogens and a subsp. Read More

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December 2018

Genetic variation at the glycosaminoglycan metabolism pathway contributes to the risk of psoriatic arthritis but not psoriasis.

Ann Rheum Dis 2018 Dec 14. Epub 2018 Dec 14.

Rheumatology Research Group, Vall d'Hebron Research Institute, Barcelona, Spain

Objective: Psoriatic arthritis (PsA) is a chronic inflammatory arthritis affecting up to 30% of patients with psoriasis (Ps). To date, most of the known risk loci for PsA are shared with Ps, and identifying disease-specific variation has proven very challenging. The objective of the present study was to identify genetic variation specific for PsA. Read More

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December 2018

Genetic association of non-MHC region with ankylosing spondylitis in a Chinese population.

Ann Rheum Dis 2018 Dec 14. Epub 2018 Dec 14.

State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai, China

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December 2018

Clinical and MRI Features of Cerebral Small-Vessel Disease in Type 1 Diabetes.

Diabetes Care 2018 Dec 14. Epub 2018 Dec 14.

Department of Radiology, Karolinska University Hospital, and Department of Clinical Neuroscience, Karolinska Institute, Stockholm, Sweden.

Objective: To assess the prevalence of cerebral small-vessel disease (SVD) in subjects with type 1 diabetes compared with healthy control subjects and to characterize the diabetes-related factors associated with SVD.

Research Design And Methods: This substudy was cross-sectional in design and included 191 participants with type 1 diabetes and median age 40.0 years (interquartile range 33. Read More

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December 2018

Circulating Exosomal miR-20b-5p is Elevated in Type 2 Diabetes and Could Impair Insulin Action in Human Skeletal Muscle.

Diabetes 2018 Dec 14. Epub 2018 Dec 14.

Department of Physiology and Pharmacology Karolinska Institutet, SE-171 77 Stockholm, Sweden,

MicroRNAs (miRNAs) are noncoding RNAs representing an important class of gene expression modulators. Extracellular circulating miRNAs are both candidate biomarkers for disease pathogenesis and mediators of cell-to-cell communication. We examined the miRNA expression profile of total serum and serum derived exosome-enriched extracellular vesicles in people with normal glucose tolerance or type 2 diabetes. Read More

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December 2018

A genome-Wide Association Study Confirming a Strong Effect of HLA and Identifying Variants in on Chromosome 12q13.13 Associated with Susceptibility to Fulminant Type 1 Diabetes.

Diabetes 2018 Dec 14. Epub 2018 Dec 14.

Department of Endocrinology, Metabolism and Diabetes, Kindai University Faculty of Medicine, Osaka, Japan

The first genome-wide association study of fulminant type 1 diabetes mellitus was performed in Japanese individuals. As previously reported using a candidate gene approach, a strong association was observed with multiple SNPs in the HLA region, and the strongest association was observed with rs9268853 in the class II DR region (P=1.56 x 10, odds ratio [OR] 3. Read More

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December 2018
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Nucleosome remodeling at origins of global genome-nucleotide excision repair occurs at the boundaries of higher-order chromatin structure.

Genome Res 2018 Dec 14. Epub 2018 Dec 14.

Institute of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, United Kingdom.

Repair of UV-induced DNA damage requires chromatin remodeling. How repair is initiated in chromatin remains largely unknown. We recently demonstrated that global genome-nucleotide excision repair (GG-NER) in chromatin is organized into domains in relation to open reading frames. Read More

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December 2018

Visualization of long-lived proteins reveals age mosaicism within nuclei of postmitotic cells.

J Cell Biol 2018 Dec 14. Epub 2018 Dec 14.

Molecular and Cell Biology Laboratory, The Salk Institute for Biological Studies, La Jolla, CA

Many adult tissues contain postmitotic cells as old as the host organism. The only organelle that does not turn over in these cells is the nucleus, and its maintenance represents a formidable challenge, as it harbors regulatory proteins that persist throughout adulthood. Here we developed strategies to visualize two classes of such long-lived proteins, histones and nucleoporins, to understand the function of protein longevity in nuclear maintenance. Read More

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December 2018

APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS.

EMBO Mol Med 2018 Dec 14. Epub 2018 Dec 14.

MRC-Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK

Loss-of-function mutations in , a gene exclusively found in higher eukaryotes, cause a characteristic type of cavitating leukoencephalopathy associated with mitochondrial cytochrome oxidase (COX) deficiency. Although the genetic association of APOPT1 pathogenic variants with isolated COX defects is now clear, the biochemical link between APOPT1 function and COX has remained elusive. We investigated the molecular role of APOPT1 using different approaches. Read More

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December 2018

Moderate-to-severe asthma in individuals of European ancestry: a genome-wide association study.

Lancet Respir Med 2018 Dec 11. Epub 2018 Dec 11.

Division of Respiratory Medicine, National Institute for Health Research, Nottingham Biomedical Research Centre, University of Nottingham, Nottingham, UK. Electronic address:

Background: Few genetic studies that focus on moderate-to-severe asthma exist. We aimed to identity novel genetic variants associated with moderate-to-severe asthma, see whether previously identified genetic variants for all types of asthma contribute to moderate-to-severe asthma, and provide novel mechanistic insights using expression analyses in patients with asthma.

Methods: In this genome-wide association study, we used a two-stage case-control design. Read More

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December 2018
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