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https://www.readbyqxmd.com/read/28449408/prediabetes-is-associated-with%C3%A2-genetic-variations-in-the-kir6-2-subunit%C3%A2-kcnj11-%C3%A2-of-pancreatic-atp-sensitive-potassium-channel-gene-a-case-control-study-in-youth-han-chinese-population
#1
Min Xu, Honglin Hu, Datong Deng, Mingwei Chen, Zhenshan Xu, Youmin Wang
BACKGROUND: E23K variant of the KCNJ11 has been reported to be associated with type 2 diabetes in multiple populations. However, little is known about the role of E23K polymorphism of the KCNJ11 in the development of prediabetes in youth in China. METHODS: To this end, we recruited 279 subjects with prediabetes and 240 normal controls. RESULTS: We found that prediabetic Chinese youth exhibited higher carrier rate of K23-allele-containing genotypes than control subjects (p = 0...
April 27, 2017: Journal of Diabetes
https://www.readbyqxmd.com/read/28449375/the-genetic-dimension-of-pest-pressure-in-the-tropical-rainforest
#2
Marco Todesco, Quentin Cronk
Wet tropical forests are among the most diverse ecosystems on Earth and can host several hundreds of tree species per hectare. To maintain such diversity, the community must contain large numbers of relatively rare species rather than be dominated by a few very common trees, as is often the case in temperate forests. Explaining the mechanisms preventing dominance by common species has been a major task of tropical forest ecology. One of the most promising mechanisms is negative density dependence (NDD) of tree abundance driven by pests, including fungal diseases ('pest pressure')...
May 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28449374/genetic-variability-in-adenosine-deaminase-like-contributes-to-variation-in-alcohol-preference-in-mice
#3
Heidi M B Lesscher, Alexis Bailey, Louk J M J Vanderschuren
BACKGROUND: A substantial part of the risk for alcohol use disorder (AUD) is determined by genetic factors. We previously used chromosome substitution (CSS) mice, to identify a QTL for alcohol preference on mouse chromosome 2. The aim of this study was to identify candidate genes within this QTL that confer the risk for alcohol preference. METHODS: In order to delineate the neurobiological underpinnings of alcohol consumption, we expanded on the QTL approach to identify candidate genes for high alcohol preference in mice...
April 27, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/28449344/endoscopic-features-and-genetic-background-of-inflammatory-bowel-disease-complicated-with-takayasu-arteritis
#4
Shintaro Akiyama, Toshimitsu Fujii, Katsuyoshi Matsuoka, Ebana Yusuke, Mariko Negi, Kento Takenaka, Masakazu Nagahori, Kazuo Ohtsuka, Mitsuaki Isobe, Mamoru Watanabe
BACKGROUND AND AIM: Takayasu arteritis (TA) is occasionally complicated with inflammatory bowel disease (IBD). This study assessed the endoscopic and genetic features of IBD complicated with TA (IBD-TA). METHODS: This study retrospectively reviewed the clinical charts of 142 TA patients (14 men and 128 women; median age 48.5 years [range, 18-97 years]). Human lymphocyte antigen (HLA) types and a single-nucleotide polymorphism rs6871626 in the IL12B gene were assessed in 101 and 81 patients with TA, respectively...
May 2017: Journal of Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28449322/a-bacterium-with-close-genetic-identity-to-pseudomonas-mandelii-associated-with-spring-fish-kills-in-wild-bluegill-lepomis-macrochirus-rafinesque-and-pumpkinseed-sunfish-lepomis-gibbosus-linnaeus
#5
J Lovy, D Dicarlo-Emery, J M Hutcheson
Pseudomonas fluorescens are known bacterial pathogens in fish. The P. fluorescens group contains at least nine different bacterial species, although species from fish have rarely been differentiated. Two isolated fish kills affecting wild bluegills, Lepomis macrochirus Rafinesque, and pumpkinseed sunfish, Lepomis gibbosus (Linnaeus), occurred in the spring of 2015 during cool water temperatures (12.5°C-15.5°C). Disease signs included severe bacteraemia with rare gross external signs. Pure bacterial cultures isolated from kidneys of all affected fish were identified as P...
April 27, 2017: Journal of Fish Diseases
https://www.readbyqxmd.com/read/28449317/a-comparison-of-individual-based-genetic-distance-metrics-for-landscape-genetics
#6
A J Shirk, E L Landguth, S A Cushman
A major aim of landscape genetics is to understand how landscapes resist gene flow and thereby influence population genetic structure. An empirical understanding of this process provides a wealth of information that can be used to guide conservation and management of species in fragmented landscapes, and also to predict how landscape change may affect population viability. Statistical approaches to infer the true model among competing alternatives are based on the strength of the relationship between pairwise genetic distances and landscape distances among sampled individuals in a population...
April 27, 2017: Molecular Ecology Resources
https://www.readbyqxmd.com/read/28449201/silencing-of-agrobacterium-tumefaciens-oncogenes-ipt-and-iaam-induces-resistance-to-crown-gall-disease-in-plum-but-not-in-apricot
#7
Nuria Alburquerque, Lydia Faize, Lorenzo Burgos
BACKGROUND: In this study two vectors with short-length chimeric transgenes were used to produce Prunus rootstocks resistant to crown gall disease through RNA interference-mediated gene silencing of the Agrobacterium tumefaciens oncogenes ipt and iaaM. RESULTS: Transgenic plum and apricot lines were produced with efficiencies of up to 7.7 and 1.1%, respectively. An in vitro evaluation method allowed identifying susceptible lines and reducing the number of lines to be evaluated in the greenhouse...
April 27, 2017: Pest Management Science
https://www.readbyqxmd.com/read/28449136/-alpha-2-macroglobulin-serum-level-in-patients-with-alpha-1-antitrypsin-deficiency
#8
V Kotke, S Wiedmann, C Nell, C Vogelmeier, R Bals, T Greulich, A Klemmer
Background and objectives Alpha-2 Macroglobulin (A2M) is a plasma protein with proteolytic effects on many proteases. In patients with an inborn alpha-1 antitrypsin deficiency (AATD) the homeostasis between proteases and antiproteases is disturbed. The aim of this study was to compare the levels of AAT and A2 M in patients and controls. We hypothesized that in patients with AATD A2 M levels are elevated. Methods Patients with AATD (polymorphism Pi*ZZ, Pi*SZ, Pi*MZ and rare gene variants) as well as healthy volunteers (Pi*MM) were tested for A2 M and AAT levels...
April 27, 2017: Pneumologie
https://www.readbyqxmd.com/read/28449122/up-regulation-of-nced3-and-aba-biosynthesis-occur-within-minutes-of-a-decrease-in-leaf-turgor-but-ahk1-is-not-required
#9
Frances C Sussmilch, Timothy J Brodribb, Scott A M McAdam
A major environmental signal influencing day-time stomatal aperture is the vapour pressure deficit between the leaf and atmosphere (VPD). In angiosperms, increased VPD triggers biosynthesis of abscisic acid (ABA), prompting rapid stomatal closure. Altered cell turgor has been proposed as the trigger for ABA biosynthesis, but the timing and nature of the genetic signals linking these processes have remained uncertain. We investigated this in Arabidopsis by examining changes induced by a decrease in leaf turgor, simulating a natural increase in VPD...
April 25, 2017: Journal of Experimental Botany
https://www.readbyqxmd.com/read/28449110/veqtl-mapper-variance-association-mapping-for-molecular-phenotypes
#10
Andrew Anand Brown
Motivation: Genetic loci associated with the variance of phenotypic traits have been of recent interest as they can be signatures of genetic interactions, gene by environment interactions, parent of origin effects and canalisation. We present a fast efficient tool to map loci affecting variance of gene expression and other molecular phenotypes in cis. Results: Applied to the publicly available Geuvadis gene expression dataset, we identify 816 loci associated with variance of gene expression using an additive model, and 32 showing differences in variance between homozygous and heterozygous alleles, signatures of parent of origin effects...
April 25, 2017: Bioinformatics
https://www.readbyqxmd.com/read/28449106/microbiomeanalyst-a-web-based-tool-for-comprehensive-statistical-visual-and-meta-analysis-of-microbiome-data
#11
Achal Dhariwal, Jasmine Chong, Salam Habib, Irah L King, Luis B Agellon, Jianguo Xia
The widespread application of next-generation sequencing technologies has revolutionized microbiome research by enabling high-throughput profiling of the genetic contents of microbial communities. How to analyze the resulting large complex datasets remains a key challenge in current microbiome studies. Over the past decade, powerful computational pipelines and robust protocols have been established to enable efficient raw data processing and annotation. The focus has shifted toward downstream statistical analysis and functional interpretation...
April 26, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28449091/gwab-a-web-server-for-the-network-based-boosting-of-human-genome-wide-association-data
#12
Jung Eun Shim, Changbae Bang, Sunmo Yang, Tak Lee, Sohyun Hwang, Chan Yeong Kim, U Martin Singh-Blom, Edward M Marcotte, Insuk Lee
During the last decade, genome-wide association studies (GWAS) have represented a major approach to dissect complex human genetic diseases. Due in part to limited statistical power, most studies identify only small numbers of candidate genes that pass the conventional significance thresholds (e.g. P ≤ 5 × 10-8). This limitation can be partly overcome by increasing the sample size, but this comes at a higher cost. Alternatively, weak association signals can be boosted by incorporating independent data. Previously, we demonstrated the feasibility of boosting GWAS disease associations using gene networks...
April 26, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28449065/a-homozygous-missense-mutation-in-eral1-encoding-a-mitochondrial-rrna-chaperone-causes-perrault-syndrome
#13
Iliana A Chatzispyrou, Marielle Alders, Sergio Guerrero-Castillo, Ruben Zapata Perez, Martin A Haagmans, Laurent Mouchiroud, Janet Koster, Rob Ofman, Frank Baas, Hans R Waterham, Johannes N Spelbrink, Johan Auwerx, Marcel M Mannens, Riekelt H Houtkooper, Astrid S Plomp
Perrault syndrome (PS) is a rare recessive disorder characterized by ovarian dysgenesis and sensorineural deafness. It is clinically and genetically heterogeneous, and previously mutations have been described in different genes, mostly related to mitochondrial proteostasis. We diagnosed three unrelated females with PS and set out to identify the underlying genetic cause using exome sequencing. We excluded mutations in the known PS genes, but identified a single homozygous mutation in the ERAL1 gene (c.707A>T; p...
April 25, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28448977/is-human-oxoguanine-glycosylase-1-genetic-variant-successful-even-on-oral-squamous-cell-carcinoma
#14
Levent Aydemir, Elif Sinem Bireller, Hakan Avci, Zeynep Boy Metin, Kemal Deger, Meral Unur, Bedia Cakmakoglu
BACKGROUND: Oral squamous cell carcinoma (OSCC) is one of the most widespread cancer types that arise from different sites of oral cavity and has a 5-year survival rate. This study is aimed at investigating the human oxoguanine glycosylase 1 (hOGG1)-Ser326Cys and APE-Asp148Glu polymorphisms of DNA repair genes in OSCC. MATERIALS AND METHODS: We investigated the hOGG1-Ser326Cys and APE-Asp148Glu polymorphisms of DNA repair genes in the oral cavity. Genotyping was conducted using polymerase chain reaction-restriction fragment length polymorphism analysis based on 132 patients who were diagnosed as having OSCC and 160 healthy subjects...
April 28, 2017: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://www.readbyqxmd.com/read/28448960/utility-of-genomic-analysis-in-differentiating-synchronous-and-metachronous-lung-adenocarcinomas-from-primary-adenocarcinomas-with-intrapulmonary-metastasis
#15
Jad Saab, Hamid Zia, Susan Mathew, Michael Kluk, Navneet Narula, Helen Fernandes
Distinguishing synchronous and metachronous primary lung adenocarcinomas from adenocarcinomas with intrapulmonary metastasis is essential for optimal patient management. In this study, multiple lung adenocarcinomas occurring in the same patient were evaluated using comprehensive histopathologic evaluation supplemented with molecular analysis. The cohort included 18 patients with a total of 52 lung adenocarcinomas. Eleven patients had a new diagnosis of multiple adenocarcinomas in the same lobe (n=5) or different lobe (n=6)...
April 24, 2017: Translational Oncology
https://www.readbyqxmd.com/read/28448786/microbiological-features-and-clinical-impact-of-the-type-vi-secretion-system-t6ss-in-acinetobacter-baumannii-isolates-causing-bacteremia
#16
Jungok Kim, Ji-Young Lee, Haejeong Lee, Ji Young Choi, Dae Hun Kim, Yu Mi Wi, Kyong Ran Peck, Kwan Soo Ko
We investigated the genetic background and microbiological features of T6SS-positive Acinetobacter baumannii isolates and clinical impact of the T6SS in patients with A. baumannii bacteremia. One hundred and sixty-two A. baumannii isolates from patients with bacteremia in two tertiary-care hospitals in Korea were included in this study. Approximately one-third (51/162, 31.5%) of the A. baumannii clinical isolates possessed the hcp gene, and the hcp-positive isolates were found in several genotypes in multilocus sequence typing...
April 27, 2017: Virulence
https://www.readbyqxmd.com/read/28448720/mosaic-neurofibromatosis-type-1-in-children-a-single-institution-experience
#17
Irene Lara-Corrales, Mitra Moazzami, Maria Teresa García-Romero, Elena Pope, Patricia Parkin, Andrea Shugar, Peter Kannu
BACKGROUND: Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder caused by loss-of-function mutation in the NF1 gene. Segmental or mosaic NF1 (MNF) is an uncommon presentation of the NF1 result of postzygotic mutations that present with subtle localised clinical findings. OBJECTIVES: Our study's objectives were to describe the clinical characteristics of children with MNF. METHODS: We conducted a cross-sectional study of children diagnosed with MNF at the Hospital for Sick Children in Toronto, Canada, from January 1992 to September 2012...
April 1, 2017: Journal of Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/28448691/clinical-characterization-and-genetic-analysis-of-korean-patients-with-x-linked-charcot-marie-tooth-disease-type-1
#18
Young Bin Hong, Jin-Mo Park, Jin Seok Yu, Da Hye Yoo, Da Eun Nam, Hyung Jun Park, Ji-Su Lee, Sun Hee Hwang, Ki Wha Chung, Byung-Ok Choi
Mutations in the gap junction protein beta 1 gene (GJB1) cause X-linked Charcot-Marie-Tooth disease type 1 (CMTX1). CMTX1 is representative of the intermediate type of CMT, having both demyelinating and axonal neuropathic features. We analyzed the clinical and genetic characterization of 128 patients with CMTX1 from 63 unrelated families. Genetic analysis revealed a total of 43 mutations including 6 novel mutations. Ten mutations were found from two or more unrelated families. p.V95M was most frequently observed...
April 27, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28448657/association-between-slc16a5-genetic-variation-and-cisplatin-induced-ototoxic-effects-in-adult-patients-with-testicular-cancer
#19
Britt I Drögemöller, Jose G Monzon, Amit P Bhavsar, Adrienne E Borrie, Beth Brooks, Galen E B Wright, Geoffrey Liu, Daniel J Renouf, Christian K Kollmannsberger, Philippe L Bedard, Folefac Aminkeng, Ursula Amstutz, Claudette A Hildebrand, Erandika P Gunaretnam, Carol Critchley, Zhuo Chen, Liam R Brunham, Michael R Hayden, Colin J D Ross, Karen A Gelmon, Bruce C Carleton
Importance: Cisplatin-induced ototoxic effects are an important complication that affects testicular cancer survivors as a consequence of treatment. The identification of genetic variants associated with this adverse drug reaction will further our mechanistic understanding of its development and potentially lead to strategies to prevent ototoxic effects. Objective: To identify the genetic variants associated with cisplatin-induced ototoxic effects in adult testicular cancer patients...
April 27, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28448626/genetic-background-dependent-effects-of-murine-micro-rnas-on-circadian-clock-function
#20
Silke Kiessling, Ahmet Ucar, Kamal Chowdhury, Henrik Oster, Gregor Eichele
MicroRNAs (miRs) are important regulators of a wide range of biological processes. Antagomir studies suggest an implication of miR-132 in the functionality of the mammalian circadian clock. miR-212 and miR-132 are tandemly processed from the same transcript and share the same seed region. We found the clock modulator miR-132 and miR-212 to be expressed rhythmically in the central circadian clock. Consequently, mRNAs implicated in circadian functions may likely be targeted by both miRs. To further characterize the circadian role we generated mice with stable deletion of the miR-132/212 locus and compared the circadian behavior of mutant and wild-type control animals on two genetic backgrounds frequently used in chronobiological research, C57BL/6N and 129/Sv...
2017: PloS One
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