3,452,960 results match your criteria Genetics Research [Journal]
Nephron 2018 Dec 17:1-10. Epub 2018 Dec 17.
Clinic of Nephrology and Hypertension, Diabetes and Endocrinology, Otto-von-Guericke University, Magdeburg, Germany.
Aim: Aim of this study was to investigate the association of genetic variants of functional polymorphisms of matrix metalloproteinase and Cubilin (CUBN) with diabetic nephropathy (DN), end-stage renal disease (ESRD), and risk of cardiovascular disease (CVD) in Caucasian type 2 diabetes (T2D) patients.
Methods: 472 T2D-patients were genotyped for 3 single-nucleotide polymorphisms (SNPs; MMP-2 [rs2285053], MMP-9 [rs17576] and CUBN [rs1801239]). Genotyping was carried out by allelic discrimination using TaqMan SNP-genotyping-assay. Read More
Cardiology 2018 Dec 17;141(3):150-155. Epub 2018 Dec 17.
Molecular Immunopathology and Histocompatibility Unit, Division of Molecular Genetics, Onassis Cardiac Surgery Center, Athens, Greece.
Objective: We present the genotypic and phenotypic characterization of a family displaying dilated cardiomyopathy (DCM).
Methods: The proband and his relatives underwent full cardiological assessment. Genetic analysis of the proband was performed with the use of next-generation sequencing technology. Read More
Cell Calcium 2018 Dec 11;77:68-76. Epub 2018 Dec 11.
Institute of Biology and Molecular Genetics (IBGM), Department of Biochemistry and Molecular Biology and Physiology, Faculty of Medicine, University of Valladolid and CSIC, Ramón y Cajal, 7, E-47005 Valladolid, Spain. Electronic address:
The 5' AMP-activated protein kinase (AMPK) is a nutrient-sensitive kinase that plays a key role in the control of cellular energy metabolism. We have explored here the relationship between AMPK and Ca signaling by looking at the effect of an AMPK activator (A769662) and an AMPK inhibitor (dorsomorphin) on histamine-induced Ca-release from the endoplasmic reticulum (ER) in HeLa cells. Our data show that incubation with A769662 (EC = 29 μM) inhibited histamine-induced Ca-release from the ER in intact cells, as well as inositol-1,4,5-trisphosphate (IP)-induced Ca release in permeabilized cells. Read More
Biomed Pharmacother 2018 Dec 14;110:857-868. Epub 2018 Dec 14.
Immunology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran; Department of Immunology, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran. Electronic address:
Invasive candidiasis (IC) can affect individuals with various underlying diseases hospitalized in different parts of hospitals. In recent decades, IC has caused 27-55% mortality in general population. Although Candida albicans (C. Read More
Environ Pollut 2018 Dec 5;246:311-318. Epub 2018 Dec 5.
Area of Cardiometabolic and Renal Risk, Biomedical Research Institute Hospital Clinic of Valencia (INCLIVA), Valencia, Spain; Department of Environmental Health and Engineering, Johns Hopkins University, Baltimore, MD, USA; Department of Chronic Diseases Epidemiology, National Center for Epidemiology, Carlos III Health Institutes, Madrid, Spain.
Introduction: While several mechanisms may explain metal-related health effects, the exact cellular processes are not fully understood. We evaluated the association between leukocyte telomere length (LTL) and urine arsenic (ΣAs), cadmium (Cd) and tungsten (W) exposure in the Strong Heart Study (SHS, N = 1702) and in the Strong Heart Family Study (SHFS, N = 1793).
Methods: Urine metal concentrations were measured using ICP-MS. Read More
Curr Opin Biotechnol 2018 Dec 14;56:187-192. Epub 2018 Dec 14.
State Key Laboratory of Tree Genetics and Breeding, Northeast Forestry University, Harbin 150040, China; Forest Biotechnology Group, Department of Forestry and Environmental Resources, North Carolina State University, Raleigh, NC 27695, United States. Electronic address:
The pathway of monolignol biosynthesis involves many components interacting in a metabolic grid to regulate the supply and ratios of monolignols for lignification. The complexity of the pathway challenges any intuitive prediction of the output without mathematical modeling. Several models have been presented to quantify the metabolic flux for monolignol biosynthesis and the regulation of lignin content, composition, and structure in plant cell walls. Read More
Clin Gastroenterol Hepatol 2018 Dec 14. Epub 2018 Dec 14.
Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom; NIHR Newcastle Biomedical Research Centre, Newcastle University, Newcastle upon Tyne, United Kingdom.
Background And Aims: Little is known about the prevalence or treatment of pruritus associated with primary biliary cholangitis (PBC). We analyzed data from patients with PBC recruited from all clinical centers in the United Kingdom (UK) to characterize the prevalence, severity, progression, and treatment of pruritus.
Methods: We performed cross-sectional and longitudinal study of patients in the UK-PBC cohort to assess trajectories of pruritus. Read More
Clin Gastroenterol Hepatol 2018 Dec 14. Epub 2018 Dec 14.
Ambry Genetics, Aliso Viejo, CA.
Background And Aims: Guidelines recommend genetic testing of patients with 10 or more cumulative adenomatous polyps. However, little is known about the utility of these tests-especially for older patients. We aimed to determine the prevalence of pathogenic mutations in patients with multiple colorectal polyps, stratified by age. Read More
Biochim Biophys Acta Mol Basis Dis 2018 Dec 14. Epub 2018 Dec 14.
Department of Functional Genomics, Interfaculty Institute of Genetics and Functional Genomics, University Medicine Greifswald, Felix-Hausdorff-Strasse 8, 17489 Greifswald, Germany.
Mutations in the X chromosomal tRNA 2'‑O‑methyltransferase FTSJ1 cause intellectual disability (ID). Although the gene is ubiquitously expressed affected individuals present no consistent clinical features beyond ID. In order to study the pathological mechanism involved in the aetiology of FTSJ1 deficiency-related cognitive impairment, we generated and characterized an Ftsj1 deficient mouse line based on the gene trapped stem cell line RRD143. Read More
J Proteomics 2018 Dec 14. Epub 2018 Dec 14.
Center for Advanced Proteomics Research and Department of Microbiology, Biochemistry and Molecular Genetics, Rutgers University - New Jersey Medical School and Cancer Institute of New Jersey, Newark, NJ 07103, USA. Electronic address:
Disulfide bonds (SS) are post-translational modifications important for the proper folding and stabilization of many cellular proteins with therapeutic uses, including antibodies and other biologics. With budding advances of biologics and biosimilars, there is a mounting need for a robust method for accurate identification of SS. Even though several mass spectrometry methods have emerged for this task, their practical use rests on the broad effectiveness of both sample preparation methods and bioinformatics tools. Read More
Neurobiol Dis 2018 Dec 14. Epub 2018 Dec 14.
Institute of Biomedicine, University of Eastern Finland, Kuopio 70210, Finland. Electronic address:
No single-omic approach completely elucidates the multitude of alterations taking place in Alzheimer's disease (AD). Here, we coupled transcriptomic and phosphoproteomic approaches to determine the temporal sequence of changes in mRNA, protein, and phosphopeptide expression levels from human temporal cortical samples, with varying degree of AD-related pathology. This approach highlighted fluctuation in synaptic and mitochondrial function as the earliest pathological events in brain samples with AD-related pathology. Read More
J Steroid Biochem Mol Biol 2018 Dec 14. Epub 2018 Dec 14.
School of Health & Biomedical Sciences, RMIT University - Bundoora Campus, Melbourne, 3083, Australia. Electronic address:
DHEA and DHEAS are neuroactive neurosteroids that interact with several major receptor system in the brain, including sigma (σ), glutamate, and GABA-A receptors. It has been recognized as early as 1952, that the loss of DHEA/DHEAS in adult life is associated with neuropsychiatric disorders (eg schizophrenia, depression). However, the mechanistic role for DHEA/DHEAS in any of these domains remains speculative, not the least because the presence of these androgens in the adrenal gland and brain is largely confined to humans and only some non-human primates. Read More
Behav Brain Res 2018 Dec 14. Epub 2018 Dec 14.
Department of Neurobiology & Anatomy, University of Texas McGovern Medical School, Houston, TX 77030 United States.
Attention Deficit Hyperactivity Disorder (ADHD) is a developmental, behavioral disorder that is characterized by patterns of impulsivity and limited attention. Stimulants, such as methylphenidate (MPD) and amphetamine (Amph), are utilized as first-line agents in the treatment of ADHD. While Amph is known elicit dependence, MPD is not. Read More
Virus Res 2018 Dec 14. Epub 2018 Dec 14.
OIE Reference Laboratory for Peste des Petits Ruminants, National Research Center for Exotic Animal Diseases, China Animal Health and Epidemiology Center, No.369 Nanjing Road, Qingdao, Shandong 266032, China. Electronic address:
Peste des petits ruminants and cystic hydatidosis may be simultaneously endemic in a given area. Their pathogens are small ruminant morbillivirus (SRMV) and Echinococcus granulosus (E. granulosus), respectively. Read More
Antiviral Res 2018 Dec 14. Epub 2018 Dec 14.
Aix-Marseille Université, CNRS UMR 7257, Architecture et Fonction des Macromolécules Biologiques, 163 avenue de Luminy, 13288, Marseille, France. Electronic address:
Arenaviridae is a viral family whose members are associated with rodent-transmitted infections to humans responsible of severe diseases. The current lack of a vaccine and limited therapeutic options make the development of efficacious drugs of high priority. The cap-snatching mechanism of transcription of Arenavirus performed by the endonuclease domain of the L-protein is unique and essential, so we developed a drug design program targeting the endonuclease activity of the prototypic Lymphocytic ChorioMeningitis Virus. Read More
Exp Eye Res 2018 Dec 14. Epub 2018 Dec 14.
Institute of Eye Research, Buddhist Tzu Chi General Hospital, Hualien, Taiwan; Institute of Medical Sciences, Tzu Chi University, Hualien, Taiwan. Electronic address:
Reproducible skills are essential for successful induction of a rat model of anterior ischemic optic neuropathy (rAION). We established an in vivo validation index by measuring the natural course of optic nerve head (ONH) width and retinal nerve fiber layer (RNFL) thickness in the rAION model using optical coherence tomography (OCT). The rAION model was induced by photodynamic operations. Read More
Physiol Behav 2018 Dec 14. Epub 2018 Dec 14.
Division of Behavioral Sciences & Community Health, University of Connecticut School of Dental Medicine, Farmington, CT, United States.
Chronic cigarette smoking may influence chemosensory function, which in turn, may affect cigarette usage. Because menthol in cigarettes can attenuate nicotine bitterness, choice of menthol/nonmenthol cigarettes may be influenced by ability to perceive bitterness. We examined chemosensory function of chronic smokers, hypothesizing they would show altered function in comparison to non-smokers and by menthol cigarette preference. Read More
Mov Disord 2018 Dec 17. Epub 2018 Dec 17.
Department of Pediatric and Adult Movement Disorders and Neuropsychiatry, Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
There are several hundred single-gene disorders that we classify as inborn errors of metabolism. Inborn errors of metabolism are often rare and highly heterogeneous multisystem diseases with non-neurological and neurological manifestations, commonly with onset during childhood. Movement disorders are among the most common neurological problems in inborn errors of metabolism, but, in many cases, remain poorly defined. Read More
Electrophoresis 2018 Dec 17. Epub 2018 Dec 17.
Department of Forensic Genetics, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu, 610041, Sichuan, P. R. China.
Microhaplotype markers are emerging forensic genetic markers which may supplement existing markers. Consisting of 2-4 SNPs with an extent of <200 bp, microhaplotype can be genotyped through massively parallel sequencing (MPS) technology. Articles which have been published suggested that microhaplotype markers have good application prospect in forensics. Read More
Mov Disord 2018 Dec 17. Epub 2018 Dec 17.
Department of Neurology, Bispebjerg University Hospital, Copenhagen, Denmark.
Background: MicroRNAs are small noncoding RNAs involved in the post-transcriptional regulation of protein synthesis. Extracellular microRNAs are accessible in a stable form in biofluids.
Objectives: The aim was to identify individual microRNAs and/or subsets of microRNAs in CSF with biomarker potential and thus identify specific putative pathophysiological pathways. Read More
J Vet Intern Med 2018 Dec 17. Epub 2018 Dec 17.
Section of Medical Genetics (PennGen), University of Pennsylvania, Philadelphia, Pennsylvania.
Background: Blood typing for the A and B antigens is essential and crossmatching testing is generally recommended before transfusing blood to cats.
Objective: To evaluate 2 crossmatch (XM) tests.
Animals: Forty-nine healthy domestic shorthair cats that had not received a blood transfusion. Read More
Cochrane Database Syst Rev 2018 Dec 17;12:CD008901. Epub 2018 Dec 17.
Division of Molecular Genetics, Department of Pediatrics, Columbia University Medical Center, 630 West 168th St., New York, NY, USA, 10032.
Background: Cystic fibrosis (CF) is an inherited condition causing disease most noticeably in the lungs, digestive tract and pancreas. People with CF often have malnutrition and growth delay. Adequate nutritional supplementation does not improve growth optimally and hence an anabolic agent, recombinant human growth hormone (rhGH), has been proposed as a potential intervention. Read More
PLoS One 2018 17;13(12):e0209113. Epub 2018 Dec 17.
Genetics, Breeding, and Animal Health Research Unit, U.S. Meat Animal Research Center, Agricultural Research Service, United States Department of Agriculture, Clay Center, Nebraska, United States of America.
Moraxella bovoculi is frequently cultured from the ocular secretions and conjunctiva of cattle with Infectious Bovine Keratoconjunctivitis (IBK). Previous work has shown that single nucleotide polymorphism (SNP) diversity in this species is quite high with 81,284 SNPs identified in eight genomes representing two distinct genotypes isolated from IBK affected eyes (genotype 1) and the nasopharynx of cattle without clinical IBK signs (genotype 2), respectively. The goals of this study were to identify SNPs from a collection of geographically diverse and epidemiologically unlinked M. Read More
PLoS One 2018 17;13(12):e0209185. Epub 2018 Dec 17.
Department of Genetics, University of North Carolina, Chapel Hill, NC, United States of America.
As whole exome sequencing (WES) becomes more widely used in the clinical realm, a wealth of unanalyzed information will be routinely generated. Using WES read depth data to predict copy number variation (CNV) could extend the diagnostic utility of this previously underutilized data by providing clinically important information such as previously unsuspected deletions or duplications. We evaluated ExomeDepth, a free R package, in addition to an aneuploidy prediction method, to detect CNVs in WES data. Read More
PLoS One 2018 17;13(12):e0208516. Epub 2018 Dec 17.
Department of Health and Environmental Sciences, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
We previously performed genetic analysis in six unrelated families with infantile limb pain episodes, characterized by cold-induced deterioration and mitigation in adolescence, and reported two new mutations p.R222H/S in SCN11A responsible for these episodes. As no term described this syndrome (familial episodic pain: FEP) in Japanese, we named it as". Read More
PLoS One 2018 17;13(12):e0208196. Epub 2018 Dec 17.
International Maize and Wheat Improvement Center (CIMMYT), DPS Marg, New Delhi, India.
Spot blotch (SB) caused by Bipolaris sorokiniana, is one of the most important diseases of wheat in the eastern part of south Asia causing considerable yield loss to the wheat crop. There is an urgent need to identify genetic loci closely associated with resistance to this pathogen for developing resistant cultivars. Hence, genomic regions responsible for SB resistance were searched using a wheat association mapping initiative (WAMI) panel involving 287 spring wheat genotypes of different origin. Read More
Curr Opin Psychiatry 2018 Dec 14. Epub 2018 Dec 14.
Department of Molecular and Human Genetics, Baylor College of Medicine.
Purpose Of Review: To provide an update of the most recent studies on Smith-Magenis syndrome (SMS) with a focus on the unique pattern of behavioral and sleep disturbances associated with the condition.
Recent Findings: The recent literature on SMS has focused on the characteristic severe behavioral and sleep disturbances. A better understanding of the underlying pathophysiological mechanisms and common clinical course has helped further characterize SMS, while much is left to be discovered in regard to effective treatment/management. Read More
J Cardiovasc Med (Hagerstown) 2018 Dec 14. Epub 2018 Dec 14.
Heart Rhythm Management Center, Postgraduate program in Cardiac Electrophysiology and Pacing.
Background: The present study sought to evaluate the incidence of cerebrovascular events in a large cohort of patients with Brugada syndrome (BrS) analysing possible predictors, clinical characteristics and prognosis of cardioembolic events secondary to atrial fibrillation.
Methods: A total of 671 consecutive patients (age 42.1 ± 17. Read More
Anticancer Drugs 2018 Dec 14. Epub 2018 Dec 14.
Toxicology and Chemotherapy Unit, German Cancer Research Center, Heidelberg, Germany.
A deeper understanding of the molecular basis of castration-resistant prostate cancer (CRPC) paved the way for the rational design and development of targeted therapies, which yielded promising preclinical results. However, translation of these potentially promising agents into clinics has usually failed, partly because of tumor heterogeneity. In this study, anticancer activities of the Bcl-2 inhibitor ABT-737 and the Akt-inhibitor erufosine (ErPC3) alone and in combination were compared between CRPC (PC-3 and DU-145) and healthy (PNT-1A) cell lines. Read More
J Wildl Dis 2018 Dec 17. Epub 2018 Dec 17.
1 Department of Science and Technology-National Research Foundation Centre of Excellence for Biomedical Tuberculosis Research; South African Medical Research Council Centre for Tuberculosis Research; Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
In South Africa, the largest proportion of the African wild dog ( Lycaon pictus) population resides in regions where buffaloes have a high prevalence of Mycobacterium bovis, the causative agent of bovine tuberculosis (bTB). Recent reports of deaths of wild dogs associated with bTB have raised concerns regarding the threat this disease might pose for this species. In order to understand the potential impact of the disease in wild dogs, diagnostic tools are required to identify infected individuals. Read More
Mult Scler 2018 Dec 17:1352458518800794. Epub 2018 Dec 17.
Department of Neurology, Massachusetts General Hospital, Boston, MA, USA/ Harvard Medical School, Boston, MA, USA.
Evidence from genetic and pathologic studies suggests that mitochondrial dysfunction occurs in multiple sclerosis (MS). Furthermore, cases of MS have been reported in patients with mitochondrial disease. The phenotypic range of mitochondrial illness associating with MS is not yet well defined. Read More
Chronobiol Int 2018 Dec 17:1-11. Epub 2018 Dec 17.
b Division of Cancer Epidemiology and Genetics , National Cancer Institute , Rockville , MD , USA.
The circadian system influences virtually all biological functions. Understanding the impact of circadian variation on metabolism may provide insight into mechanisms of circadian-associated disorders and guide the implementation of chrono-therapy. Previous research has reported circadian variation in 7-20% of metabolites in human blood. Read More
FASEB J 2018 Dec 17:fj201801573R. Epub 2018 Dec 17.
Department of Pathology and Microbiology, Faculty of Medicine, Saga University, Saga, Japan.
Osteoclasts derived from hematopoietic cells are activated on bone surface. To resorb bone, osteoclasts release acid and lysosome acid hydrolase via membrane transport. Prostate transmembrane protein androgen-induced (Pmepa)1 is a type I transmembrane protein that regulates proliferation, migration, and metastasis of cancer cells. Read More
J Leukoc Biol 2018 Dec 17. Epub 2018 Dec 17.
Department of Oncology, Hematology and Immunology, University of Tübingen, Tübingen, Germany.
Chronic lymphocytic leukemia (CLL) can be defined as a clonal expansion of B cells with stereotypic BCRs. Somatic hypermutation of the BCR heavy chains (IGVH) defines a subgroup of patients with a better prognosis. In up to 10% of CLL cases, a transformation to an aggressive B cell lymphoma (Richter's syndrome) with a dismal prognosis can be observed over time. Read More
Allergy 2018 Dec 17. Epub 2018 Dec 17.
Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.
Nat Biotechnol 2018 Dec 17. Epub 2018 Dec 17.
US Department of Energy Joint Genome Institute, Walnut Creek, California, USA.
We present an extension of the Minimum Information about any (x) Sequence (MIxS) standard for reporting sequences of uncultivated virus genomes. Minimum Information about an Uncultivated Virus Genome (MIUViG) standards were developed within the Genomic Standards Consortium framework and include virus origin, genome quality, genome annotation, taxonomic classification, biogeographic distribution and in silico host prediction. Community-wide adoption of MIUViG standards, which complement the Minimum Information about a Single Amplified Genome (MISAG) and Metagenome-Assembled Genome (MIMAG) standards for uncultivated bacteria and archaea, will improve the reporting of uncultivated virus genomes in public databases. Read More
Elife 2018 Dec 17;7. Epub 2018 Dec 17.
Department of Biochemistry, Stanford University School of Medicine, Stanford, United States.
Extracellular vesicles mediate transfer of biologically active molecules between neighboring or distant cells, and these vesicles may play important roles in normal physiology and the pathogenesis of multiple disease states including cancer. However, the underlying molecular mechanisms of their biogenesis and release remain unknown. We designed artificially barcoded, exosomal microRNAs (bEXOmiRs) to monitor extracellular vesicle release quantitatively using deep sequencing. Read More
Elife 2018 Dec 17;7. Epub 2018 Dec 17.
Department of Molecular and Cell Biology, Howard Hughes Medical Institute, University of California, Berkeley, Berkeley, United States.
In a previous study we established forward genetics in the choanoflagellate Salpingoeca rosetta and found that a C-type lectin gene is required for rosette development (Levin et al. 2014). Here we report on critical improvements to genetic screens in while also investigating the genetic basis for rosette defect mutants in which single cells fail to develop into orderly rosettes but instead aggregate promiscuously into amorphous clumps of cells. Read More
Elife 2018 Dec 17;7. Epub 2018 Dec 17.
Institut Jacques Monod, CNRS UMR 7592, Université Paris-Diderot, Paris, France.
RNA polymerase (RNAPII) transcription occurs pervasively, raising the important question of its functional impact on other DNA-associated processes, including replication. In budding yeast, replication originates from Autonomously Replicating Sequences (ARSs), generally located in intergenic regions. The influence of transcription on ARSs function has been studied for decades, but these earlier studies have neglected the role of non-annotated transcription. Read More
Int J Syst Evol Microbiol 2018 Dec 17. Epub 2018 Dec 17.
7Boehringer Ingelheim Veterinary Research Center, Bemeroder Strasse 31, 30559 Hannover, Germany.
Descriptions of the genus Caecibacterium and its proposed type species Caecibacterium sporoformans were published in the IJSEM by Onrust et al. (Int J Syst Evol Microbiol 2017;67:4589-4594). The type strain was deposited as LMG 27730 and DSM 26959. Read More
Gut Microbes 2018 Dec 17:1-6. Epub 2018 Dec 17.
b Department of Genetics, Cell Biology, and Development , University of Minnesota , Minneapolis , MN , USA.
Although the gut microbiome has been linked to colorectal cancer (CRC) development, associations of microbial taxa with CRC status are often inconsistent across studies. We have recently shown that tumor genomics, a factor that is rarely incorporated in analyses of the CRC microbiome, has a strong effect on the composition of the microbiota. Here, we discuss these results in the wider context of studies characterizing interaction between host genetics and the microbiome, and describe the implications of our findings for understanding the role of the microbiome in CRC. Read More
Transcription 2018 Dec 17. Epub 2018 Dec 17.
a Curriculum in Genetics and Molecular Biology (GMB) , University of North Carolina at Chapel Hill , USA.
RNA processing encompasses the capping, cleavage, polyadenylation and alternative splicing of pre-mRNA. Proper muscle development relies on precise RNA processing, driven by the coordination between RNA-binding proteins. Recently, skeletal muscle biology has been intensely investigated in terms of RNA processing. Read More
Pediatr Endocrinol Rev 2018 Dec;16(2):275-283
Medical School, Mohammed VI Hospital 4806, 60049 Oujda, Morocco, E-mail:
Ellis-Van Creveld (EvC) syndrome is a rare autosomal recessive chondroectodermal dysplasia including chondrodysplasia, postaxial polydactyly, ectodermal dysplasia, and congenital heart disease in 60% of patients. Additional findings may be observed affecting the pulmonary, renal, gastrointestinal, hematologic, and central nervous systems. We report a case of an 11-year-old Moroccan boy with EVC syndrome and Dandy-Walker malformation. Read More
Proteomics Clin Appl 2018 Dec 17:e1800183. Epub 2018 Dec 17.
Prof. S. Ferrero, Prof. S. Ferrero Academic Unit of Obstetrics and Gynecology, IRCCS Ospedale Policlinico San Martino, Largo R. Benzi 10, 16132, Genoa, Italy.
The non-surgical diagnosis of endometriosis is still challenging for the clinician. Ultrasonography and magnetic resonance imaging can be used to diagnose ovarian endometriotic cysts and deep infiltrating endometriosis; but their performance is poor in the diagnosis of initial stages of endometriosis. CA-125 and other serum markers (such as CA 19-9, serum protein PP14, interleukins and angiogenetic factors) have been measured in women with endometriosis but they are not reliable for the diagnosis of the disease. Read More
Am J Med Genet A 2018 Dec 17. Epub 2018 Dec 17.
Department of Pediatrics, Division of Genetics and Metabolism, University of California, Irvine, California.
Prader-Willi syndrome (PWS), is a complex genetic disease affecting 1/15,000 individuals, characterized by lack of expression of genes on the paternal chromosome 15q11-q13 region. Clinical features include central hypotonia, poor suck, learning and behavior problems, growth hormone deficiency with short stature, hyperphagia, and morbid obesity. Despite significant advances in genetic testing, the mean age for diagnosis in PWS continues to lag behind. Read More
Respirology 2018 Dec 17. Epub 2018 Dec 17.
Interstitial Lung Disease Unit, Royal Brompton Hospital, London, UK.
Hum Mutat 2018 Dec 17. Epub 2018 Dec 17.
Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, Australia.
Rapid advances in genomic technologies have facilitated the identification pathogenic variants causing human disease. We report siblings with developmental and epileptic encephalopathy due to a novel, shared heterozygous pathogenic 13 bp duplication in SYNGAP1 (c.435_447dup, p. Read More
Evolution 2018 Dec 17. Epub 2018 Dec 17.
Department of Animal Ecology, Netherlands Institute of Ecology (NIOO-KNAW), Droevendaalsesteeg 10, P.O. Box 50, 6700, AB Wageningen, the Netherlands.
Phenotypic plasticity is an important mechanism for populations to respond to fluctuating environments, yet may be insufficient to adapt to a directionally changing environment. To study whether plasticity can evolve under current climate change, we quantified selection and genetic variation in both the elevation (RN ) and slope (RN ) of the breeding time reaction norm in a long-term (1973-2016) study population of great tits (Parus major). The optimal RN (the caterpillar biomass peak date regressed against the temperature used as cue by great tits) changed over time, whereas the optimal RN did not. Read More
Nanoscale 2018 Dec 17. Epub 2018 Dec 17.
Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark. and Interdisciplinary Nanoscience Center (iNANO), Aarhus University, Aarhus, Denmark.
In the current study, we describe a novel DNA sensor system for specific and quantitative detection of mycobacteria, which is the causative agent of tuberculosis. Detection is achieved by using the enzymatic activity of the mycobacterial encoded enzyme topoisomerase IA (TOP1A) as a biomarker. The presented work is the first to describe how the catalytic activities of a member of the type IA family of topoisomerases can be exploited for specific detection of bacteria. Read More
Org Biomol Chem 2018 Dec 17. Epub 2018 Dec 17.
Department of Chemistry, Special Research Unit for Advanced Magnetic Resonance and Center of Excellence for Innovation in Chemistry, Faculty of Science, Kasetsart University, Bangkok, 10900, Thailand.
Menisporopsin A is a bioactive macrocyclic polylactone produced by the fungus Menisporopsis theobromae BCC 4162. A scheme for the biosynthesis of this compound has been proposed, in which reducing (R) and non-reducing (NR) polyketide synthases (PKSs) would catalyze the formation of each menisporopsin A subunit, while an additional non-ribosomal peptide synthetase (NRPS)-like enzyme would be required to perform multiple esterification and cyclolactonization reactions. Transcriptome analysis of M. Read More