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Molecular genetics

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https://www.readbyqxmd.com/read/29679746/prevalence-of-cfr-in-enterococcus-faecalis-strains-isolated-from-swine-farms-in-china-predominated-cfr-carrying-pcppf5-like-plasmids-conferring-non-linezolid-resistance-phenotype
#1
Liang-Xing Fang, Jia-Hong Duan, Mu-Ya Chen, Hui Deng, Hua-Qing Liang, Yan Q Xiong, Jian Sun, Ya-Hong Liu, Xiao-Ping Liao
The cfr gene associated with linezolid resistance has attracted wide attention. However, little is known about its prevalence and mode of transmission in Enterococcus faecalis. In this study, we investigate the prevalence and genetic environment of the cfr gene in 91 E. faecalis isolates collected from swine faecal swabs in 30 farms in Guangdong Province, China in 2012. A relatively high prevalence of cfr was identified in E. faecalis isolates (11/91, 12.1%) by PCR. All the cfr-positive E. faecalis strains had a multidrug-resistance phenotype including erythrocin, tetracycline, gentamicin, kanamicin and ciprofloxacin, except vancomycin and linezolid...
April 18, 2018: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/29679742/adaptive-thermogenesis-by-dietary-n-3-polyunsaturated-fatty-acids-emerging-evidence-and-mechanisms
#2
REVIEW
Rong Fan, Karsten Koehler, Soonkyu Chung
Brown/beige fat plays a crucial role in maintaining energy homeostasis through non-shivering thermogenesis in response to cold temperature and excess nutrition (adaptive thermogenesis). Although numerous molecular and genetic regulators have been identified, relatively little information is available regarding thermogenic dietary molecules. Recently, a growing body of evidence suggests that high consumption of n-3 polyunsaturated fatty acids (PUFA) or activation of GPR120, a membrane receptor of n-3 PUFA, stimulate adaptive thermogenesis...
April 18, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29679484/the-role-of-autoimmune-reactivity-induced-by-heat-shock-protein-70-in-the-pathogenesis-of-essential-hypertension
#3
REVIEW
Bernardo Rodriguez-Iturbe, Miguel A Lanaspa, Richard J Johnson
Autoimmunity is increasingly recognized as having a central role in essential hypertension. Heat shock proteins are immunodominant molecules with high interspecies homology and autoimmune reactivity directed against HSP70 may play a role in the pathogenesis of hypertension. Autoimmunity to HSP70 may result from molecular mimicry between human HSP and bacterial HSP, or alternatively, as a response to HSP70-peptide complexes generated during cellular stress and delivered to the major histocompatibility complex in antigen presenting cells...
April 21, 2018: British Journal of Pharmacology
https://www.readbyqxmd.com/read/29679399/inherited-epidermolysis-bullosa-new-diagnostics-and-new-clinical-phenotypes
#4
Cristina Has, Judith Fischer
Inherited epidermolysis bullosa (EB) is a group of heterogeneous genetic disorders characterized by skin fragility. EB comprises a large spectrum of phenotypes, ranging from severe cutaneous and extracutaneous involvement caused by lack of key adhesion proteins, to mild cutaneous fragility caused by subtle molecular defects. Disease-causing variants in 20 different genes account for the genetic and allelic heterogeneity of EB. Here we discuss the development of laboratory methods that enabled these discoveries and the clinical and molecular features of some new EB entities elucidated during the past 5-6 years...
April 20, 2018: Experimental Dermatology
https://www.readbyqxmd.com/read/29679217/spatiotemporal-imaging-of-cellular-energy-metabolism-with-genetically-encoded-fluorescent-sensors-in-brain
#5
REVIEW
Zhuo Zhang, Weicai Chen, Yuzheng Zhao, Yi Yang
The brain has very high energy requirements and consumes 20% of the oxygen and 25% of the glucose in the human body. Therefore, the molecular mechanism underlying how the brain metabolizes substances to support neural activity is a fundamental issue for neuroscience studies. A well-known model in the brain, the astrocyte-neuron lactate shuttle, postulates that glucose uptake and glycolytic activity are enhanced in astrocytes upon neuronal activation and that astrocytes transport lactate into neurons to fulfill their energy requirements...
April 20, 2018: Neuroscience Bulletin
https://www.readbyqxmd.com/read/29679096/protein-evolution-is-potentially-governed-by-protein-stability-directed-evolution-of-an-esterase-from-the-hyperthermophilic-archaeon-sulfolobus-tokodaii
#6
Ryo Kurahashi, Satoshi Sano, Kazufumi Takano
The study of evolution is important to understand biological phenomena. During evolutionary processes, genetic changes confer amino acid substitutions in proteins, resulting in new or improved functions. Unfortunately, most mutations destabilize proteins. Thus, protein stability is a significant factor in evolution; however, its role remains unclear. Here, we simply and directly explored the association between protein activity and stability in random mutant libraries to elucidate the role of protein stability in evolutionary processes...
April 20, 2018: Journal of Molecular Evolution
https://www.readbyqxmd.com/read/29679021/systematic-evaluation-of-rna-quality-microarray-data-reliability-and-pathway-analysis-in-fresh-fresh-frozen-and-formalin-fixed-paraffin-embedded-tissue-samples
#7
Isabella Wimmer, Anna R Tröscher, Florian Brunner, Stephen J Rubino, Christian G Bien, Howard L Weiner, Hans Lassmann, Jan Bauer
Formalin-fixed paraffin-embedded (FFPE) tissues are valuable resources commonly used in pathology. However, formalin fixation modifies nucleic acids challenging the isolation of high-quality RNA for genetic profiling. Here, we assessed feasibility and reliability of microarray studies analysing transcriptome data from fresh, fresh-frozen (FF) and FFPE tissues. We show that reproducible microarray data can be generated from only 2 ng FFPE-derived RNA. For RNA quality assessment, fragment size distribution (DV200) and qPCR proved most suitable...
April 20, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29678953/metabolic-adjustment-to-high-altitude-hypoxia-from-genetic-signals-to-physiological-implications
#8
REVIEW
Andrew J Murray, Hugh E Montgomery, Martin Feelisch, Michael P W Grocott, Daniel S Martin
Ascent to high altitude is associated with physiological responses that counter the stress of hypobaric hypoxia by increasing oxygen delivery and by altering tissue oxygen utilisation via metabolic modulation. At the cellular level, the transcriptional response to hypoxia is mediated by the hypoxia-inducible factor (HIF) pathway and results in promotion of glycolytic capacity and suppression of oxidative metabolism. In Tibetan highlanders, gene variants encoding components of the HIF pathway have undergone selection and are associated with adaptive phenotypic changes, including suppression of erythropoiesis and increased blood lactate levels...
April 20, 2018: Biochemical Society Transactions
https://www.readbyqxmd.com/read/29678855/de-novo-sox10-nonsense-mutation-in-a-patient-with-kallmann-syndrome-deafness-iris-hypopigmentation-and-hyperthyroidism
#9
Fang Wang, Shaoli Zhao, Yanhong Xie, Wenjun Yang, Zhaohui Mo
Kallmann syndrome (KS) is a clinically and genetically heterogeneous disorder characterized by hypogonadotropic hypogonadism and olfactory dysfunction. Recently, mutations in SOX10, a well-known causative gene of Waardenburg syndrome (WS), have been identified in a few KS patients with additional developmental defects including hearing loss. However, the understanding of SOX10 mutation associates with KS and other clinical consequences remains fragmentary. A 30-year-old Chinese male patient presented with no pubertal sex development when he was at the age of twelve years...
March 2018: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/29678621/activation-of-the-non-canonical-nf-%C3%AE%C2%BAb-p52-pathway-in-vascular-endothelial-cells-by-rankl-elicits-pro-calcific-signalling-in-co-cultured-smooth-muscle-cells
#10
Emma Harper, Keith D Rochfort, Hannah Forde, Colin Davenport, Diarmuid Smith, Philip M Cummins
BACKGROUND: The intimal endothelium is known to condition the underlying medial smooth muscle cell (SMC) layer of the vessel wall, and is highly responsive to receptor-activator of nuclear factor-κB ligand (RANKL) and tumour necrosis factor-related apoptosis-inducing ligand (TRAIL), pro-calcific and anti-calcific agents, respectively. In this paper, we tested the hypothesis that RANKL-induced activation of endothelial NF-κB signalling is essential for pro-calcific activation of the underlying SMCs...
April 17, 2018: Cellular Signalling
https://www.readbyqxmd.com/read/29678354/actin-dynamics-at-focal-adhesions-a-common-endpoint-and-putative-therapeutic-target-for-proteinuric-kidney-diseases
#11
REVIEW
Sanja Sever, Mario Schiffer
Proteinuria encompasses diverse causes including both genetic diseases and acquired forms such as diabetic and hypertensive nephropathy. The basis of proteinuria is a disturbance in size selectivity of the glomerular filtration barrier, which largely depends on the podocyte: a terminally differentiated epithelial cell type covering the outer surface of the glomerulus. Compromised podocyte structure is one of the earliest signs of glomerular injury. The phenotype of diverse animal models and podocyte cell culture firmly established the essential role of the actin cytoskeleton in maintaining functional podocyte structure...
April 17, 2018: Kidney International
https://www.readbyqxmd.com/read/29678299/molecular-epidemiology-of-klebsiella-pneumoniae-k1-and-k2-isolates-in-japan
#12
Sohei Harada, Yoshikazu Ishii, Tomoo Saga, Kotaro Aoki, Kazuhiro Tateda
Although severe infections caused by hypervirulent Klebsiella pneumoniae isolates, such as K1 isolates belonging to sequence type (ST) 23, have been a significant problem in Asian countries, epidemiology of these isolates in Japan remains unclear. We performed a nationwide molecular epidemiological study of K. pneumoniae K1 and K2 isolates in Japan. Of the 259K. pneumoniae isolates collected, 14 and 16 isolates were identified as capsular genotypes K1 and K2, respectively. All K1 isolates were ST23 or its closely related clones and showed high genetic similarity by pulsed-field gel electrophoresis (PFGE) and the DiversiLab system (DL)...
March 20, 2018: Diagnostic Microbiology and Infectious Disease
https://www.readbyqxmd.com/read/29678285/pharmacogenetics-of-g-protein-coupled-receptors-variants-fsh-receptor-and-infertility-treatment
#13
REVIEW
Daniele Santi, Francesco Potì, Manuela Simoni, Livio Casarini
Infertility treatment may represent a paradigmatic example of precision medicine. Follicle-stimulating hormone (FSH) has been proposed as a valuable therapeutic option both in males and in females, even if a standardized approach is far to be established. To date, several genetic mutations as well as polymorphisms have been demonstrated to significantly affect the pathophysiology of FSH-FSH receptor (FSHR) interaction, although the underlying molecular mechanisms remain unclear. This review aims to highlight possible aspects of FSH therapy that could benefit from a pharmacogenetic approach, providing an up-to-date overview of the variability of the response to FSH treatment in both sexes...
April 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29678284/aberrant-g-protein-coupled-hormone-receptor-in-adrenal-diseases
#14
REVIEW
Matthieu St-Jean, Nada El Ghorayeb, Isabelle Bourdeau, André Lacroix
The regulation of cortisol or aldosterone production when ACTH of pituitary origin or the renin-angiotensin systems are suppressed in primary adrenal Cushing's syndrome or in primary aldosteronism is exerted by diverse genetic and molecular mechanisms. In addition to recently identified mutations in various genes implicated in the cyclic AMP or ion channel pathways, steroidogenesis is not really autonomous as it is frequently regulated by the aberrant adrenocortical expression of diverse hormone receptors, particularly G-protein coupled hormone receptors (GPCR) which can substitute for the normal function of ACTH or angiotensin-II...
April 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29678282/multiple-hormone-resistance-and-alterations-of-g-protein-coupled-receptors-signaling
#15
REVIEW
Mantovani Giovanna, Elli Francesca Marta
Metabolic disorders deriving from the non-responsiveness of target organs to hormones, which manifest clinically similar to the deficiency of a given hormone itself, derive from molecular alterations affecting specific hormone receptors. Pseudohypoparathyroidism (PHP) and related disorders exemplify an unusual form of hormone resistance as the underlying molecular defect is a partial deficiency of the α subunit of the stimulatory G protein (Gsα), a key regulator of cAMP signaling pathway, or, as more recently described, of downstream effector proteins of the same pathway, such as PKA regulatory subunit 1A (R1A) and phosphodyestarase type 4D (PDE4D)...
April 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29678281/an-orphan-g-protein-coupled-receptor-causes-human-gigantism-and-or-acromegaly-molecular-biology-and-clinical-correlations
#16
REVIEW
Giampaolo Trivellin, Laura C Hernández-Ramírez, Jeremy Swan, Constantine A Stratakis
X-linked acrogigantism (X-LAG) is a recently described form of familial or sporadic pituitary gigantism characterized by very early onset GH and IGF-1 excess, accelerated growth velocity, gigantism and/or acromegaloid features. Germline or somatic microduplications of the Xq26.3 chromosomal region, invariably involving the GPR101 gene, constitute the genetic defect leading to X-LAG. GPR101 encodes a class A G protein-coupled receptor that activates the 3',5'-cyclic adenosine monophosphate signaling pathway...
April 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29678218/developing-inclusivity-and-exclusivity-panels-for-testing-diagnostic-and-detection-tools-targeting-burkholderia-pseudomallei-the-causative-agent-of-melioidosis
#17
Charles H D Williamson, David M Wagner, Paul Keim, Jason W Sahl
Background: Diagnostic tools designed to target Burkholderia pseudomallei , the causative agent of melioidosis that was classified as a Tier 1 Select Agent by the U.S. Centers for Disease Control and Prevention, have typically suffered from false-positive and false-negative results because of a lack of understanding of the genomic diversity of B. pseudomallei and its genetic near neighbors. Objective: In this review, we discuss a strategy for using comparative genomics to guide the design of inclusivity and exclusivity panels for the validation of assays as defined by the Standard Method Performance Requirement (SMPR®)...
April 20, 2018: Journal of AOAC International
https://www.readbyqxmd.com/read/29678161/an-unusually-high-frequency-of-scad-deficiency-caused-by-two-pathogenic-variants-in-the-acads-gene-and-its-relationship-to-the-ethnic-structure-in-slovakia
#18
Jana Lisyová, Ján Chandoga, Petra Jungová, Marcel Repiský, Mária Knapková, Martina Machková, Svetozár Dluholucký, Darina Behúlová, Jana Šaligová, Ľudmila Potočňáková, Miroslava Lysinová, Daniel Böhmer
BACKGROUND: Short-chain acyl-CoA dehydrogenase deficiency (SCADD) represents a rare autosomal recessive inborn metabolic disorder of mitochondrial β-oxidation of monocarboxylic acids. Clinical symptoms can vary from a severe life-threatening condition to an asymptomatic state, reported in the majority of cases. Since the expansion of newborn screenings, more than three hundred probands were admitted for molecular-genetic analysis, most selected because of elevated values of C4-acylcarnitine detected in newborn screenings in Slovakia...
April 20, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29678122/chemical-regulators-of-plant-hormones-and-their-applications-in-basic-research-and-agriculture
#19
Kai Jiang, Tadao Asami
Plant hormones are small molecules that play versatile roles in regulating plant growth, development, and responses to the environment. Classic methodologies, including genetics, analytic chemistry, biochemistry, and molecular biology, have contributed to the progress in plant hormone studies. In addition, chemical regulators of plant hormone functions have been important in such studies. Today, synthetic chemicals, including plant growth regulators, are used to study and manipulate biological systems, collectively referred to as chemical biology...
April 20, 2018: Bioscience, Biotechnology, and Biochemistry
https://www.readbyqxmd.com/read/29677793/a-label-free-detection-of-ndei-endonuclease-activity-by-using-dna-templated-silver-nanoclusters
#20
Chunghyun Lee, Jongback Gang
Restriction endonucleases play an important role in genetic recombination, molecular cloning, clinical diagnosis, and pharmacological application in drug studies. In the present study, DNA-templated Ag+ nanoclusters (DNA-AgNCs) were used to detect NdeI endonuclease activity due to their facile synthesis, outstanding optical properties, and good biocompatibility. This study monitored fluorescence intensity of DNA-AgNCs to detect NdeI endonuclease activity and its inhibition in the presence of 5-fluorouracil under optimal conditions...
September 1, 2018: Journal of Nanoscience and Nanotechnology
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