3,444,390 results match your criteria Genetics Selection Evolution [Journal]


Development and Application of a New PCR Method for Detection of Blumeria graminis f. sp. tritici.

J Mol Microbiol Biotechnol 2018 Dec 6;28(3):137-146. Epub 2018 Dec 6.

Department of Biotechnology, Microbiology and Human Nutrition, University of Life Sciences in Lublin, Lublin, Poland.

We developed new PCR assays that target beta-tubulin (TUB2) and 14 alpha-demethylase (CYP51) genes and used them for the species-specific detection of Blumeria graminis f. sp. tritici (Bgt). Read More

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December 2018

(Pyrrolo-pyridin-5-yl)benzamides: BBB permeable monoamine oxidase B inhibitors with neuroprotective effect on cortical neurons.

Eur J Med Chem 2018 Nov 13;162:793-809. Epub 2018 Nov 13.

Bulgarian Academy of Sciences, Institute of Organic Chemistry, Centre of Phytochemistry, Acad. G. Bonchev Str., Bl. 9, Sofia, 1113, Bulgaria.

An extensive study was performed to develop a series of (pyrrolo-pyridin-5-yl)benzamides as reversible MAO-B inhibitors. Compounds 14 (NTZ-2020, hMAO-B IC = 1.11 nM, K = 0. Read More

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November 2018
2 Reads

Viability-based quantification of antibiotic resistance genes and human fecal markers in wastewater effluent and receiving waters.

Sci Total Environ 2018 Nov 22;656:495-502. Epub 2018 Nov 22.

Department of Civil and Environmental Engineering, Rutgers, The State University of New Jersey, 500 Bartholomew Dr, Piscataway, NJ 08854, United States. Electronic address:

Antibiotic resistance is a public health issue with links to environmental sources of antibiotic resistance genes (ARGs). ARGs from nonviable sources may pose a hazard given the potential for transformation whereas ARGs in viable sources may proliferate during host growth or conjugation. In this study, ARGs in the effluent from three municipal wastewater treatment plants (WWTPs) and the receiving surface waters were investigated using a viability-based qPCR technique (vPCR) with propidium monoazide (PMA). Read More

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November 2018
1 Read

Temporal dynamics of cortisol-associated changes in mRNA expression of glucocorticoid responsive genes FKBP5, GILZ, SDPR, PER1, PER2 and PER3 in healthy humans.

Psychoneuroendocrinology 2018 Nov 30;102:63-67. Epub 2018 Nov 30.

Department of Neurobehavioral Genetics, Institute of Psychobiology, University of Trier, D-54290, Trier, Germany. Electronic address:

Secretion of the stress hormone cortisol follows a circadian rhythm and is stimulated following stress exposure. Cortisol regulates the transcription of several genes, primarily through activation of the glucocorticoid receptor (GR). Previously, we showed an upregulation of PERIOD genes PER1 and PER3 after pharmacological/glucocorticoid challenge in vivo and in vitro. Read More

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November 2018

A PALB2 truncating mutation: Implication in cancer prevention and therapy of Hereditary Breast and Ovarian Cancer.

Breast 2018 Nov 29;43:91-96. Epub 2018 Nov 29.

Cancer Genetics Group, Institute of Genetics and Molecular Biology (UVa-CSIC), Sanz y Forés 3, 47003 Valladolid, Spain. Electronic address:

Explaining genetic predisposition in Hereditary Breast and Ovarian Cancer (HBOC) families without BRCA mutations is crucial. Germline PALB2 inactivating mutations were associated with an increased risk of HBOC due to its role in DNA repair through cooperation with BRCA proteins. The prevalence and penetrance of PALB2 mutations in Spanish HBOC patients remains unexplained. Read More

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November 2018
1 Read

Reasonable expectations of privacy in non-disclosure of familial genetic risk: What is it reasonable to expect?

Authors:
Victoria Chico

Eur J Med Genet 2018 Dec 3. Epub 2018 Dec 3.

Society and Ethics Research Group, Connecting Science, Wellcome Genome Campus, Cambridge, UK. Electronic address:

Where there is conflict between a patient's interests in non-disclosure of their genetic information to relatives and the relative's interest in knowing the information because it indicates their genetic risk, clinicians have customarily been able to protect themselves against legal action by maintaining confidence even if, professionally, they did not consider this to be the right thing to do. In ABC v St Georges Healthcare NHS Trust ([2017] EWCA Civ 336) the healthcare team recorded their concern about the wisdom of the patient's decision to withhold genetic risk information from his relative, but chose to respect what they considered to be an unwise choice. Even though professional guidance considers that clinicians have the discretion to breach confidence where they believe this to be justified, (Royal College of Physicians, Royal College of Pathologists and the British Society of Human Genetics, 2006; GMC, 2017) clinicians find it difficult to exercise this discretion in line with their convictions against the backdrop of the legal prioritisation of the duty to maintain confidence. Read More

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December 2018

Lipid-gene regulatory network reveals coregulations of triacylglycerol with phosphatidylinositol/lysophosphatidylinositol and with hexosyl-ceramide.

Biochim Biophys Acta Mol Cell Biol Lipids 2018 Dec 3. Epub 2018 Dec 3.

State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China; University of Chinese Academy of Sciences, Beijing 100049, China. Electronic address:

Lipid homeostasis is important for executing normal cellular functions and maintaining physiological conditions. The biophysical properties and intricate metabolic network of lipids underlie the coordinated regulation of different lipid species in lipid homeostasis. To reveal the homeostatic response among different lipids, we systematically knocked down 40 lipid metabolism genes in Drosophila S2 cells by RNAi and profiled the lipidomic changes. Read More

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December 2018

Draft genome analysis of lignocellulolytic enzymes producing Aspergillus terreus with structural insight of β-glucosidases through molecular docking approach.

Int J Biol Macromol 2018 Dec 3. Epub 2018 Dec 3.

Department of Animal Biotechnology, College of Veterinary Science and Animal Husbandry, Anand Agricultural University, Anand 388110, Gujarat, India.

Members of the genus Aspergillus are extensively studied ascomycetes because of their ability to synthesize high value-added compounds and enzymes of industrial interest. Precise whole genome assembly and gene annotation are significant for gene functional analyses. Here, we report the draft genome sequencing, assembly and whole genome analysis of Aspergillus terreus P14_T3, isolated from rumen sample of cattle fed with coconut-coir. Read More

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December 2018

Animal Conflicts in Diploid Populations with Sexual Reproduction.

J Theor Biol 2018 Dec 3. Epub 2018 Dec 3.

Ruppin Academic Center, School of Engineering, Unit of Engineering & Management, Emek Hefer 40250, Israel. Electronic address:

The classical, monomorphic, evolutionary games analyze competition among phenotypes while implicitly assuming monomorphic transmission of phenotypic attributes to successive generations. The recently formulated polymorphic evolutionary game theory (PEGT), which adds the underlying genetics and sexual reproduction to evolutionary games, has the potential to revolutionize game theoretical modeling of co-evolutionary processes. In this paper, I apply PEGT methods to the analysis of animal conflicts ࣧ the oldest, and one of the best-developed areas of evolutionary game modeling. Read More

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December 2018

A Xenopus tadpole alternative model to study innate-like T cell-mediated anti-mycobacterial immunity.

Dev Comp Immunol 2018 Dec 3. Epub 2018 Dec 3.

Department of Microbiology and Immunology, University of Rochester Medical Center, United States. Electronic address:

Owing to the high incidence of multi-drug resistance and challenges posed by the complex and long duration of treatments, Mycobacterium tuberculosis (Mtb) infections remain a significant clinical burden, which would benefit from development of novel immuno-therapeutic-based treatment strategies. Among early immune effectors, invariant or innate-like (i)T cells are attracting attention because of their potential regulatory activity, which can shape anti-mycobacterial immune responses. Unlike conventional T cells, iT cells express a semi-invariant T cell receptor, and respond rapidly and robustly to molecular patterns presented by MHC class I-like molecules. Read More

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December 2018

Single layer colloid centrifugation technique improves motility, viability and chromatin integrity of ram spermatozoa after thawing.

Cryobiology 2018 Dec 3. Epub 2018 Dec 3.

Clinic for Reproduction and Large Animals, University of Ljubljana, Vet Faculty, Ljubljana, Slovenia.

The cell membrane of ram spermatozoa is more sensitive to the freezing process than in other species due to its composition. As a result, the quality and viability of frozen thawed ram spermatozoa are often poor, which together with the specific structure of the ewe's cervix are the main reasons for lower fertility in ewes after intracervical insemination. In the present study we investigated the effects of semen centrifugation through a single layer of a species-specific colloid (Androcoll-O) on post-thaw quality of ram spermatozoa. Read More

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December 2018

Anti-inflammatory and antioxidant effect of melatonin on recovery from muscular trauma induced in rats.

Exp Mol Pathol 2018 Dec 3. Epub 2018 Dec 3.

Universidade Luterana do Brasil - ULBRA - Graduate Program in Genetics and Applied Toxicology, Canoas, Rio Grande do Sul, Brazil; Universidade Luterana do Brasil - ULBRA - Graduate Program in Cellular and Molecular Biology Applied to Health, Canoas, Rio Grande do Sul, Brazil; Universidade Federal do Rio Grande do Sul - UFRGS - Graduate Program in Medicine: Medical Sciences, Porto Alegre, Rio Grande do Sul, Brazil; Universidade Luterana do Brasil - Laboratory of Oxidative Stress and Antioxidants, Canoas, Rio Grande do Sul, Brazil; Hospital de Clínicas de Porto Alegre - HCPA - Laboratory of Experimental Hepatology and Gastroenterology, Porto Alegre, Rio Grande do Sul, Brazil. Electronic address:

In recent decades, the number of people who practice sports has grown exponentially, increasing the number of muscular injuries. Trauma injury occurs when the muscle is exposed to a sudden compression force. Melatonin (MLT) has often been cited in the literature as a potent antioxidant and anti-inflammatory agent. Read More

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December 2018
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Overexpression of heat shock protein HSP90AA1 and translocase of the outer mitochondrial membrane TOM34 in HCV-induced hepatocellular carcinoma: A pilot study.

Clin Biochem 2018 Dec 3. Epub 2018 Dec 3.

Department of Biochemistry, Faculty of Medicine, Northern Border University, Arar, Saudi Arabia; Department of Medical Biochemistry and Molecular Biology, Faculty of Medicine, Suez Canal University, Ismailia, Egypt. Electronic address:

Objective: Identification of new molecular markers to enhance early diagnosis, prognosis and/or treatment of hepatocellular carcinoma (HCC) is a need. TOM34 (34 kDa-translocase of the outer mitochondrial membrane) protein expression deregulation has demonstrated to be involved in the growth of many cancers. Here, we aimed at evaluating serum TOM34 and some heat shock proteins (HSPA4, HSPA1B, and HSP90AA1) expressions in hepatitis C virus (HCV)-related cirrhosis and HCV-induced HCC relative to controls and correlating these expressions to the clinicopathological data. Read More

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December 2018
6 Reads

Lack of NWC protein (c11orf74 homolog) in murine spermatogenesis results in reduced sperm competitiveness and impaired ability to fertilize egg cells in vitro.

PLoS One 2018 6;13(12):e0208649. Epub 2018 Dec 6.

Laboratory of Molecular and Cellular Immunology, Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Wroclaw, Poland.

NWC is an uncharacterised protein containing three strongly conserved domains not found in any other known protein. Previously, we reported that the NWC protein is detected in cells in the germinal layer in murine testes (strain: C57BL/6), and its knockout results in no obvious phenotype. We determined the NWC expression pattern during spermatogenesis, and found this protein in spermatocytes and round spermatids, but not in epididymal sperm. Read More

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December 2018

The genetic diversity and relationships of cauliflower (Brassica oleracea var. botrytis) inbred lines assessed by using SSR markers.

PLoS One 2018 6;13(12):e0208551. Epub 2018 Dec 6.

Key Laboratory of Ministry of Education for Genetics, Breeding and Multiple Utilization of Crops, College of Crop Science, Fujian Agriculture and Forestry University, Fuzhou, P.R. China.

Inbred lines are important germplasm in cauliflower breeding programs. To understand the genetic diversity and relationships of cauliflower inbred lines, the use of simple sequence repeat (SSR) markers will be of great value for parental line selection and breeding strategy design. In this study, the genetic diversity and relationships of 165 cauliflower inbred lines primarily derived from southeast China were assessed using SSR markers. Read More

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December 2018

Two jatropha karyotypes constructed from meiotic pachytene chromosomes: Pericentric distribution of heterochromatin and variation in repetitive DNAs.

PLoS One 2018 6;13(12):e0208549. Epub 2018 Dec 6.

Department of Agronomy, Faculty of Agriculture at Kamphaeng Saen, Kasetsart University, Kamphaeng Saen, Nakhon Pathom, Thailand.

Jatropha (Jatropha curcas) is an oil-bearing plant used for biodiesel production. Construction of its standard karyotype and identification of the euchromatin/heterochromatin distribution associated with gene expression and meiotic recombination are essential to fully characterize its genome. Here, we developed a J. Read More

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December 2018

Whole genome variant association across 100 dogs identifies a frame shift mutation in DISHEVELLED 2 which contributes to Robinow-like syndrome in Bulldogs and related screw tail dog breeds.

PLoS Genet 2018 Dec 6;14(12):e1007850. Epub 2018 Dec 6.

Department of Population Health and Reproduction, School of Veterinary Medicine, University of California Davis, Davis, CA, United States of America.

Domestic dog breeds exhibit remarkable morphological variations that result from centuries of artificial selection and breeding. Identifying the genetic changes that contribute to these variations could provide critical insights into the molecular basis of tissue and organismal morphogenesis. Bulldogs, French Bulldogs and Boston Terriers share many morphological and disease-predisposition traits, including brachycephalic skull morphology, widely set eyes and short stature. Read More

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December 2018
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The impact of a fine-scale population stratification on rare variant association test results.

PLoS One 2018 6;13(12):e0207677. Epub 2018 Dec 6.

INSERM, CNRS, UNIV Nantes, l'institut du thorax, Nantes, France.

Population stratification is a well-known confounding factor in both common and rare variant association analyses. Rare variants tend to be more geographically clustered than common variants, because of their more recent origin. However, it is not yet clear if population stratification at a very fine scale (neighboring administrative regions within a country) would lead to statistical bias in rare variant analyses. Read More

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December 2018

microRNA-129-5p is regulated by choline availability and controls EGF receptor synthesis and neurogenesis in the cerebral cortex.

FASEB J 2018 Dec 6:fj201801094RR. Epub 2018 Dec 6.

Nutrition Research Institute, University of North Carolina at Chapel Hill, Kannapolis, North Carolina, USA.

Choline availability modulates neurogenesis and cerebral cortex development through the regulation of neural progenitor cell (NPC) proliferative and differentiation capacity. In this study, we demonstrated that cortical NPC self-renewal is controlled by choline via the expression of a microRNA (miR-129-5p), whose role in the developing brain has not been examined, and which, in turn, inhibits synthesis of the epidermal growth factor receptor (EGFR) protein. Specifically, we found that low choline (LC) availability led to the upregulation of miR-129-5p expression in cortical NPCs in vitro and in vivo, causing the downregulation of EGFR and thereby disrupting NPC self-renewal and cortical neurogenesis. Read More

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December 2018

Citrus fruit intake and gastric cancer: the Stomach cancer Pooling (StoP) project consortium.

Int J Cancer 2018 Dec 6. Epub 2018 Dec 6.

Department of Clinical Sciences and Community Health, Università degli Studi di Milano, 20133 Milan, Italy.

Diets rich in vegetables and fruit have been associated with reduced risk of gastric cancer, and there is suggestive evidence that citrus fruits have a protective role. This study aimed at evaluating and quantifying the association between citrus fruit consumption and gastric cancer risk. We conducted a one-stage pooled analysis including 6340 cases and 14,490 controls from 15 case-control studies from the Stomach cancer Pooling (StoP) Project consortium. Read More

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December 2018
1 Read
5.085 Impact Factor

Differential associations of depression-related phenotypes with cardiometabolic risks: Polygenic analyses and exploring shared genetic variants and pathways.

Depress Anxiety 2018 Dec 6. Epub 2018 Dec 6.

School of Biomedical Sciences, The Chinese University of Hong Kong, Shatin, Hong Kong.

Background: Numerous studies have suggested associations between depression and cardiometabolic (CM) diseases. However, little is known about the mechanism underlying this comorbidity, and whether the relationship differs by depression subtypes.

Methods: Using polygenic risk scores (PRS) and linkage disequilibrium (LD) score regression, we investigated the genetic overlap of various depression-related phenotypes with a comprehensive panel of 20 CM traits. Read More

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December 2018

Universal screening for Lynch Syndrome in a large consecutive cohort of Chinese colorectal cancer patients: high prevalence and unique molecular features.

Int J Cancer 2018 Dec 6. Epub 2018 Dec 6.

Sun Yat-sen University Cancer Center; State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangzhou 510060, China.

The prevalence of Lynch syndrome (LS) varies significantly in different populations, suggesting that ethnic features might play an important role. We enrolled 3330 consecutive Chinese patients who had surgical resection for newly diagnosed colorectal cancer. Universal screening for LS was implemented, including immunohistochemistry for mismatch repair (MMR) proteins, BRAF mutation test and germline sequencing. Read More

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December 2018
2 Reads

Polygenic risk score identifies associations between sleep duration and diseases determined from an electronic medical record biobank.

Sleep 2018 Dec 5. Epub 2018 Dec 5.

Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA USA.

Study Objectives: We aimed to detect cross-sectional phenotype and polygenic risk score (PRS) associations between sleep duration and prevalent diseases using the Partners Biobank, a hospital-based cohort study linking electronic medical record (EMR) with genetic information.

Methods: Disease prevalence was determined from EMR, and sleep duration was self-reported. A PRS for sleep duration was derived using 78 previously associated SNPs from GWAS for self-reported sleep duration. Read More

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December 2018

Population Genetics Based Phylogenetics Under Stabilizing Selection for an Optimal Amino Acid Sequence: A Nested Modeling Approach.

Mol Biol Evol 2018 Dec 5. Epub 2018 Dec 5.

Department of Ecology & Evolutionary Biology, University of Tennessee, Knoxville.

We present a new phylogenetic approach SelAC (Selection on Amino acids and Codons), whose substitution rates are based on a nested model linking protein expression to population genetics. Unlike simpler codon models which assume a single substitution matrix for all sites, our model more realistically represents the evolution of protein coding DNA under the assumption of consistent, stabilizing selection using cost-benefit approach. This cost-benefit approach allows us generate a set of 20 optimal amino acid specific matrix families using just a handful of parameters and naturally links the strength of stabilizing selection to protein synthesis levels, which we can estimate. Read More

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December 2018
2 Reads

Evolution of DNA methylation in Papio baboons.

Mol Biol Evol 2018 Dec 5. Epub 2018 Dec 5.

Department of Evolutionary Anthropology, Duke University, Durham, NC.

Changes in gene regulation have long been thought to play an important role in primate evolution. However, although a number of studies have compared genome-wide gene expression patterns across primate species, fewer have investigated the gene regulatory mechanisms that underlie such patterns, or the relative contribution of drift versus selection. Here, we profiled genome-scale DNA methylation levels in blood samples from five of the six extant species of the baboon genus Papio (4-14 individuals per species). Read More

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December 2018

Benzene Exposure Response and Risk of Myeloid Neoplasms in Chinese Workers: A Multicenter Case-Cohort Study.

J Natl Cancer Inst 2018 Dec 6. Epub 2018 Dec 6.

Nanchang Center for Disease Control and Prevention, Nanchang, China.

Background: There is international consensus that benzene exposure is causally related to acute myeloid leukemia (AML), and more recent evidence of association with myelodysplastic syndromes (MDS). However, there are uncertainties about the exposure response, particularly risks by time since exposure and age at exposure.

Methods: In a case-cohort study in 110 631 Chinese workers followed up during 1972-1999 we evaluated combined MDS/AML (n = 44) and chronic myeloid leukemia (n = 18). Read More

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December 2018
2 Reads

Assessment of ERBB2/HER2 Status in HER2-Equivocal Breast Cancers by FISH and 2013/2014 ASCO-CAP Guidelines.

JAMA Oncol 2018 Dec 6. Epub 2018 Dec 6.

Department of Medicine, Geffen School of Medicine at University of California Los Angeles, Los Angeles.

Importance: The 2013/2014 American Society of Clinical Oncology and College of American Pathologists (ASCO-CAP) guidelines for HER2 testing by fluorescence in situ hybridization (FISH) designated an "equivocal" category (average HER2 copies per tumor cell ≥4-6 with HER2/CEP17 ratio <2.0) to be resolved as negative or positive by assessments with alternative control probes. Approximately 4% to 12% of all invasive breast cancers are characterized as HER2-equivocal based on FISH. Read More

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December 2018

CYP2D6 haplotypes with enhancer single-nucleotide polymorphism rs5758550 and rs16947 (*2 allele): implications for CYP2D6 genotyping panels.

Pharmacogenet Genomics 2018 Nov 28. Epub 2018 Nov 28.

Department of Cancer Biology and Genetics, Center for Pharmacogenomics, College of Medicine, The Ohio State University, Columbus, Ohio.

Introduction: CYP2D6 metabolizes ∼25% of all clinically used drugs, with numerous genetic polymorphisms affecting enzyme activity and drug response. Clinical utility of current CYP2D6 genotyping is partially compromised the unresolved complex haplotype structure of the CYP2D6 locus. We have identified a distal enhancer single-nucleotide polymorphism rs5758550 that robustly increases CYP2D6 expression, whereas rs16947 (CYP2D6*2), previously considered inert, reduces correct mRNA splicing and expression, thereby affecting presumed activity of other alleles on the *2 haplotype. Read More

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November 2018

Partial Deletion of Tie2 Affects Microvascular Endothelial Responses to Critical Illness in a Vascular Bed and Organ-Specific Way.

Shock 2018 Jul 30. Epub 2018 Jul 30.

Department of Pathology and Medical Biology, Medical Biology section.

Tie2 is a tyrosine kinase receptor that is mainly expressed by endothelial cells. In animal models mimicking critical illness, Tie2 levels in organs are temporarily reduced. Functional consequences of these reduced Tie2 levels on microvascular endothelial behaviour are unknown. Read More

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July 2018
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Control of neural crest multipotency by Wnt signaling and the Lin28/ axis.

Elife 2018 Dec 6;7. Epub 2018 Dec 6.

Department of Molecular Biology and Genetics,, Cornell University, Ithaca, United States.

A crucial step in cell differentiation is the silencing of developmental programs underlying multipotency. While much is known about how lineage-specific genes are activated to generate distinct cell types, the mechanisms driving suppression of stemness are far less understood. To address this, we examined the regulation of the transcriptional network that maintains progenitor identity in avian neural crest cells. Read More

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December 2018
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Screening for insulin-independent pathways that modulate glucose homeostasis identifies androgen receptor antagonists.

Elife 2018 Dec 6;7. Epub 2018 Dec 6.

Department of Developmental Genetics, Max Planck Institute for Heart and Lung Research, Bad Nauheim, Germany.

Pathways modulating glucose homeostasis independently of insulin would open new avenues to combat insulin resistance and diabetes. Here, we report the establishment, characterization and use of a vertebrate 'insulin-free' model to identify insulin-independent modulators of glucose metabolism. knockout zebrafish recapitulate core characteristics of diabetes and survive only up to larval stages. Read More

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December 2018

Protein gradients on the nucleoid position the carbon-fixing organelles of cyanobacteria.

Elife 2018 Dec 6;7. Epub 2018 Dec 6.

Department of Biochemistry, Michigan State University, East Lansing, United States.

Carboxysomes are protein-based bacterial organelles encapsulating key enzymes of the Calvin-Benson-Bassham cycle. Previous work has implicated a ParA-like protein (hereafter McdA) as important for spatially organizing carboxysomes along the longitudinal axis of the model cyanobacterium PCC 7942. Yet, how self-organization of McdA emerges and contributes to carboxysome positioning is unknown. Read More

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December 2018
1 Read

Drought adaptation in by extensive genetic loss-of-function.

Elife 2018 Dec 6;7. Epub 2018 Dec 6.

Department of Bioagricultural Sciences and Pest Management, Colorado State University, Fort Collins, United States.

Interdisciplinary syntheses are needed to scale up discovery of the environmental drivers and molecular basis of adaptation in nature. Here we integrated novel approaches using whole genome sequences, satellite remote sensing, and transgenic experiments to study natural loss-of-function alleles associated with drought histories in wild . The genes we identified exhibit population genetic signatures of parallel molecular evolution, selection for loss-of-function, and shared associations with flowering time phenotypes in directions consistent with longstanding adaptive hypotheses 7 times more often than expected by chance. Read More

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December 2018
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Treatment-resistant and multi-therapy-resistant criteria for bipolar depression: consensus definition.

Br J Psychiatry 2018 Dec 6:1-9. Epub 2018 Dec 6.

Clinical Senior Lecturer in Mood Disorders and Consultant Psychiatrist,National Affective Disorders Service; Academic Psychiatry Training Programme Lead,Institute of Psychiatry,Psychology and Neuroscience,King's College London,South London and Maudsley NHS Foundation Trust (SLaM); andCRN South London Lead for Mental Health,Centre for Affective Disorders, Institute of Psychiatry,Psychology and Neuroscience,King's College London,South London and Maudsley NHS Foundation Trust (SLaM),UK.

Background: Most people with bipolar disorder spend a significant percentage of their lifetime experiencing either subsyndromal depressive symptoms or major depressive episodes, which contribute greatly to the high levels of disability and mortality associated with the disorder. Despite the importance of bipolar depression, there are only a small number of recognised treatment options available. Consecutive treatment failures can quickly exhaust these options leading to treatment-resistant bipolar depression (TRBD). Read More

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December 2018

Phosphite Esters: Reagents for Exploring S-Nitrosothiol Chemistry.

Org Lett 2018 Dec 6. Epub 2018 Dec 6.

Department of Chemistry , Washington State University , Pullman , Washington 99163 , United States.

The reactions between S-nitrosothiols and phosphite esters, including P(OPh), P(OBn), and P(OEt), were studied. Two different conjugated adducts, thiophosphoramidates and phosphorothioates, were formed, depending on the structures of the S-nitrosothiol substrate (e.g. Read More

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December 2018
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Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.

Hum Mutat 2018 Dec 6. Epub 2018 Dec 6.

Genome Research Division, Human Genetics department, Radboud University Medical Center Nijmegen and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.

Next-generation sequencing has been instrumental in solving the genetic basis of rare inherited diseases, especially neurodevelopmental syndromes. However, functional workup is essential for precise phenotype definition and to understand the underlying disease mechanisms. Using whole exome and whole genome sequencing in 4 independent families with hypotonia, neurodevelopmental delay, facial dysmorphism, loss of white matter and thinning of the corpus callosum, we identified 4 previously unreported homozygous truncating PPP1R21 alleles: c. Read More

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December 2018

BCG Vaccination for bovine tuberculosis; conclusions from the jersusalem one health workshop.

Transbound Emerg Dis 2018 Dec 6. Epub 2018 Dec 6.

Department of Microbiology and Molecular Genetics, IMRIC Hebrew University of Jerusalem, Jerusalem, Israel.

The global burden of bovine tuberculosis (bTB) remains poorly characterized, with spill-over impacts on multiple species. The "One Health" concept is especially relevant given the bidirectional risk of cattle infecting humans with Mycobacterium bovis and humans infecting cattle with M. tuberculosis. Read More

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December 2018
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Epidermolytic ichthyosis due to a de novo missense mutation c.1307T> C; p.Leu436Pro in KRT10.

J Dtsch Dermatol Ges 2018 Dec 6. Epub 2018 Dec 6.

Department of Dermatology, Carl Gustav Carus University Medical Center, Dresden Technical University, Dresden, Germany.

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December 2018

Predictive significance of serum inhibin B on testicular haploid gamete retrieval outcomes in nonobstructive azoospermic men.

Asian J Androl 2018 Nov 30. Epub 2018 Nov 30.

Center for Reproductive Medicine, Shandong University, Jinan 250001, China.

The purpose of this study was to determine the diagnostic accuracy of serum inhibin B (INHB) as a predictor of the retrieval outcome of testicular haploid gametes (spermatids and testicular spermatozoa) in nonobstructive azoospermic men. Serum hormone levels, testicular volume, and histological evaluation were performed in 403 Chinese nonobstructive azoospermic men. Testicular haploid gamete was successfully retrieved in 213 of 403 patients (52. Read More

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November 2018

miR-342-5p as a potential regulator of HER2 breast cancer cell growth.

Microrna 2018 Dec 6. Epub 2018 Dec 6.

Department of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital, The Norwegian Radium Hospital, Oslo. Norway.

HER2 positive breast cancers (BC) have aggressive behavior and poor prognosis. Previously, we have identified miR-342-5p as an upstream regulator of HER2 signaling, as well as inhibitor of HER2 positive BC cell line growth. Here, we aimed to further investigate the molecular mechanisms behind miR-342-5p-induced HER2 pathway deregulation. Read More

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December 2018
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Pharmacogenetic tests and depressive symptom remission: a meta-analysis of randomized controlled trials.

Pharmacogenomics 2018 Dec 6. Epub 2018 Dec 6.

Department of Psychiatry & Behavioral Sciences, Emory University School of Medicine, Atlanta, GA 30322, USA.

Aim: To conducted a systematic review and meta-analysis of prospective, randomized controlled trials (RCTs) that examined pharmacogenetic-guided decision support tools (DSTs) relevant to depressive symptom remission in major depressive disorder (MDD).

Patients & Methods: Random-effects meta-analysis was performed on RCTs that examined the effect of DSTs on remission rates in MDD. RCT quality was assessed using the Cochrane Collaboration Criteria. Read More

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December 2018
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Risky sexual behavior among adolescents: The role of decision-making, problems from cannabis use and externalizing disorder symptoms.

J Clin Exp Neuropsychol 2018 Dec 6:1-12. Epub 2018 Dec 6.

b Center for Children and Families , Florida International University , Miami , FL, USA.

Introduction: Previous research has demonstrated that externalizing symptoms, cannabis use problems, and poor decision-making abilities are each independently related to risky sexual behavior (RSB). However, few studies have examined the joint effect of these factors on RSB among a sample of adolescents.

Methods: The current study addresses this gap in the literature by examining how externalizing disorder symptoms, cannabis use, and decision-making abilities interact to predict RSB among a sample of adolescents (n = 204; M = 15. Read More

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December 2018

The role of metabolic syndrome and its components as mediators of the genetic effect on type 2 diabetes: a family-based study in China.

J Diabetes 2018 Dec 5. Epub 2018 Dec 5.

Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing, China.

Background: Metabolic syndrome (MetS) and its components share genetic basis with type 2 diabetes (T2D). However, whether MetS and its components play a role in mediating the T2D genetic susceptibility is not completely understood.

Methods: We assessed the mediation effects of MetS and its components on the genetic susceptibility for 18 GWAS-identified T2D-associated variants using a two-stage strategy based on parametric models involving 7110 Chinese participants (of which, 2,436 T2D patients) across 2,885 families. Read More

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December 2018
1 Read

Genome-wide patterns of transposon proliferation in an evolutionary young hybrid fish.

Mol Ecol 2018 Dec 5. Epub 2018 Dec 5.

Carl von Ossietzky University Oldenburg, Institute for Biology and Environmental Sciences, Carl von Ossietzky Str. 9-11, 26111, Oldenburg, Germany.

Hybridization can induce transposons to jump into new genomic positions, which may result in their accumulation across the genome. Alternatively, transposon copy numbers may increase through non-allelic (ectopic) homologous recombination in highly repetitive regions of the genome. The relative contribution of transposition bursts versus recombination-based mechanisms to evolutionary processes remains unclear because studies on transposon dynamics in natural systems are rare. Read More

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December 2018

Physical response of dogs supplemented with fish oil during a treadmill training programme.

J Anim Physiol Anim Nutr (Berl) 2018 Dec 5. Epub 2018 Dec 5.

Laboratory of Veterinary Physiotherapy (LAFIVET), School of Veterinary Sciences (FCV), National University of La Plata (UNLP), Buenos Aires, Argentina.

The rise in popularity of dog sports competitions has led to the evaluation of improvements in dog physical performance. The potential benefit of dietary supplementation with fish oil (FO) on the physical performance of human beings and horses has been reported. However, such effect has not been studied in dogs. Read More

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December 2018

Disulfide bridge formation influences ligand recognition by the ATAD2 bromodomain.

Proteins 2018 Dec 6. Epub 2018 Dec 6.

From the Department of Pharmaceutical Sciences, Albany College of Pharmacy and Health Sciences, Colchester, Vermont, USA.

The ATPase Family, AAA domain-containing protein 2 (ATAD2) contains a C-terminal bromodomain, which functions as a chromatin reader domain recognizing acetylated lysine on the histone tails within the nucleosome. ATAD2 is overexpressed in many cancers and its expression is correlated with poor patient outcomes, making it an attractive therapeutic target and potential biomarker. We solved the crystal structure of the ATAD2 bromodomain and found that it contains a disulfide bridge near the base of the acetyllysine binding pocket (Cys1057-Cys1079). Read More

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December 2018

Rapid and Accurate Structure-Based Therapeutic Peptide Design using GPU Accelerated Thermodynamic Integration.

Proteins 2018 Dec 6. Epub 2018 Dec 6.

Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto M5S 3E1, Canada.

Peptide-based therapeutics are an alternative to small molecule drugs as they offer superior specificity, lower toxicity and easy synthesis. Here we present an approach that leverages the dramatic performance increase afforded by the recent arrival of GPU accelerated thermodynamic integration (TI). GPU TI facilitates very fast, highly accurate binding affinity optimization of peptides against therapeutic targets. Read More

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December 2018

Knockdown of sal-like 4 expression by small interfering RNA induces apoptosis in breast cancer cells.

J Cell Biochem 2018 Dec 5. Epub 2018 Dec 5.

Department of Biotechnology, Faculty of Medicine, Arak University of Medical Sciences, Arak, Iran.

Breast cancer is the most prevalent cancers worldwide and causes a significant amount of deaths annually. Spalt-like transcription factor 4 is known as a transcription factor, which has an important role in the proliferation of cancerous cells. Small interfering RNA (siRNA) is a short-chain molecule of 20 to 25 nucleotides that protrude on two sides of the 3', two nucleotides. Read More

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December 2018

Ex vivo treatment of prostate tumor tissue recapitulates in vivo therapy response.

Prostate 2018 Dec 5. Epub 2018 Dec 5.

Department of Molecular Genetics, Erasmus MC, Rotterdam, The Netherlands.

Background: In vitro models of prostate cancer (PCa) are not always reliable to evaluate anticancer treatment efficacy. This limitation may be overcome by using viable tumor slice material. Here we report on the establishment of an optimized ex vivo method to culture tissue slices from patient-derived xenografts (PDX) of prostate cancer (PCa), to assess responses to PCa treatments. Read More

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December 2018
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