نتایج جستجو برای: 25 different alleles 185

تعداد نتایج: 2115823  

Journal: :Science 2012
Daniel G MacArthur Suganthi Balasubramanian Adam Frankish Ni Huang James Morris Klaudia Walter Luke Jostins Lukas Habegger Joseph K Pickrell Stephen B Montgomery Cornelis A Albers Zhengdong D Zhang Donald F Conrad Gerton Lunter Hancheng Zheng Qasim Ayub Mark A DePristo Eric Banks Min Hu Robert E Handsaker Jeffrey A Rosenfeld Menachem Fromer Mike Jin Xinmeng Jasmine Mu Ekta Khurana Kai Ye Mike Kay Gary Ian Saunders Marie-Marthe Suner Toby Hunt If H A Barnes Clara Amid Denise R Carvalho-Silva Alexandra H Bignell Catherine Snow Bryndis Yngvadottir Suzannah Bumpstead David N Cooper Yali Xue Irene Gallego Romero Jun Wang Yingrui Li Richard A Gibbs Steven A McCarroll Emmanouil T Dermitzakis Jonathan K Pritchard Jeffrey C Barrett Jennifer Harrow Matthew E Hurles Mark B Gerstein Chris Tyler-Smith

Genome-sequencing studies indicate that all humans carry many genetic variants predicted to cause loss of function (LoF) of protein-coding genes, suggesting unexpected redundancy in the human genome. Here we apply stringent filters to 2951 putative LoF variants obtained from 185 human genomes to determine their true prevalence and properties. We estimate that human genomes typically contain ~10...

2014
Berta Almoguera Lyam Vazquez John J. Connolly Jonathan Bradfield Patrick Sleiman Brendan Keating Hakon Hakonarson

BACKGROUND The activity of thiopurine methyltransferase (TPMT) is subject to genetic variation. Loss-of-function alleles are associated with various degrees of myelosuppression after treatment with thiopurine drugs, thus genotype-based dosing recommendations currently exist. The aim of this study was to evaluate the potential utility of leveraging genomic data from large biorepositories in the ...

2014
Guo Li Yunyun Wang Yong Liu Zhongwu Su Chao Liu Shuling Ren Tengbo Deng Donghai Huang Yongquan Tian Yuanzheng Qiu

Aberrant microRNA (miRNA) expression contributes to a series of malignant cancer behaviors, including radioresistance. Our previous study showed differential expression of miR-185-3p in post-radiation nasopharyngeal carcinoma (NPC) cells. To investigate the role of miR-185-3p in NPC radioresistance, CNE-2 and 5-8F cells were transfected with miR-185-3p mimic and miR-185-3p inhibitor, respective...

Hassan Mohabatkar, Iraj Saadat, Maryam Kamkar, Mostafa Saadat,

Dear Editor Analysis of the phenylalanine hydroxylase (PAH McKusick 261600) gene in different populations has revealed more than 320 different mutations associated with phenylketonuria (PKU). One of these mutations, IVS10nt546, results in severe PAH deficiency due to defective mRNA splicing. It accounts for about 40 percent of all mutant alleles in Turkish and between 10 to 20 percent of all mu...

Journal: :Genetics and molecular research : GMR 2016
W W Cheng D Q Wang C Y Wang H Du Q W Wei

Studies of genetic diversity and genetic population structure are critical for the conservation and management of endangered species. The Chinese sucker Myxocyprinus asiaticus is a vulnerable monotypic species in China, which is at a risk of decline owing to fluctuations in effective population size and other demographic and environmental factors. We screened 11 microsatellite loci in 214 indiv...

Journal: :Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2013
Alison M Mondul Irene M Shui Kai Yu Ruth C Travis Victoria L Stevens Daniele Campa Frederick R Schumacher Regina G Ziegler H Bas Bueno-de-Mesquita Sonja Berndt E D Crawford Susan M Gapstur J Michael Gaziano Edward Giovannucci Christopher A Haiman Brian E Henderson David J Hunter Mattias Johansson Timothy J Key Loïc Le Marchand Sara Lindström Marjorie L McCullough Carmen Navarro Kim Overvad Domenico Palli Mark Purdue Meir J Stampfer Stephanie J Weinstein Walter C Willett Meredith Yeager Stephen J Chanock Dimitrios Trichopoulos Laurence N Kolonel Peter Kraft Demetrius Albanes

BACKGROUND Studies suggest that vitamin D status may be associated with prostate cancer risk although the direction and strength of this association differs between experimental and observational studies. Genome-wide association studies have identified genetic variants associated with 25-hydroxyvitamin D [25(OH)D] status. We examined prostate cancer risk in relation to single-nucleotide polymor...

Journal: :Egyptian Journal of Medical Human Genetics 2022

Abstract Background The prevalence and the role of CYP2C19 gene mutations concerning recurrent Cardiovascular Events (CVEs) among patients treated with clopidogrel is still controversial especially Arab people. Therefore, this review aimed to determine frequency polymorphic alleles population investigate efficacy as an antiplatelet drug those carrying different variants gene. Methodology Two au...

Journal: :Molecular ecology 2007
Olivier Raspé Joshua R Kohn

Low sequence divergence within functional alleles is predicted for the self-incompatibility locus because of strong negative frequency-dependent selection. Nevertheless, sequence variation within functional alleles is essential for current models of the evolution of new mating types. We genotyped the stylar self-incompatibility RNase of 20 Sorbus aucuparia from a population in the Pyrenees moun...

Journal: :Sci 2022

In this work, briquettes from mattress waste are manufactured and the acoustic properties of materials produced checked. Briquettes made at temperatures between 170 185 °C using viscoelastic memory foam (VMF) applying pressures 25 75 MPa. Later, such as their bulk density, porosity, compaction factor measured. Afterwards, subjected to a test determine sound reduction index different frequencies...

Journal: :Journal of the Royal Statistical Society 2022

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید