Results 81 to 90 of about 5,302,158 (304)

Using Reference Databases of Genetic Variation to Evaluate the Potential Pathogenicity of Candidate Disease Variants

Human Mutation, 2013
The potential pathogenicity of genetic variants identified in disease‐based resequencing studies is often overlooked where variants have previously been reported in dbSNP, the 1000 genomes project, or the National Heart, Lung and Blood Institute Exome ...
K. Kenna, R. Mclaughlin, O. Hardiman, D. Bradley   +3 more
semanticscholar   +1 more source

Modulation of Homer1 EVH1 domain internal dynamics by putative autism‐associated mutations

FEBS Letters, EarlyView.
The putative autism‐associated M65I and S97L variants of the EVH1 domain of the postsynaptic scaffold protein Homer1 do not exhibit substantial changes in their overall structure or partner binding. Both of them, but especially the M65I variant, show altered internal dynamics relative to the wild‐type domain on the μs‐ms timescale, indicated by the ...
Fanni Farkas, Brigitta Maruzs, Zsófia E. Kálmán, Tomas Klumpler, Gyula Batta, Bálint Péterfia, Zoltán Gáspári   +6 more
wiley   +1 more source

A scoping review of human genetic resources management policies and databases in high- and middle-low-income countries

BMC Medical Ethics
Background This review examines global human genetic resources management, focusing on genetic data policies and repositories in high- and middle-low-income countries.
Hongwei Liu, Yin Liu, Yanyan Zhao, Yingqi Ma, Qiong Chen, Huifang Xu, Xiaoyang Wang, Xiaoli Guo, Hong Wang, Zelong Chen, Shaokai Zhang, Binbin Han   +11 more
doaj   +1 more source

MalaCards: an amalgamated human disease compendium with diverse clinical and genetic annotation and structured search

Nucleic Acids Res., 2016
The MalaCards human disease database (http://www.malacards.org/) is an integrated compendium of annotated diseases mined from 68 data sources. MalaCards has a web card for each of ∼20 000 disease entries, in six global categories.
N. Rappaport, Michal Twik, I. Plaschkes, R. Nudel, Tsippi Iny Stein, J. Levitt, Moran Gershoni, C. P. Morrey, M. Safran, D. Lancet   +9 more
semanticscholar   +1 more source

Structural insights and therapeutic targets in Acinetobacter baumannii capsule biosynthesis

FEBS Letters, EarlyView.
Hypervirulent KL49 A. baumannii's capsular polysaccharide contains the nonulosonic acid 8‐epi‐Leg5,7Ac2, synthesized by epimerization via ElaA, ElaB, and ElaC. Crystal structures of ElaA, ElaB, and ElaC reveal their role in CMP‐Leg5,7Ac2 synthesis and regioselective C8 epimerization.
Woo Cheol Lee, Junho Jeong, Chae Yeong Lee, Hyunjoon Cho, Man Hwan Oh, Je Chul Lee, Jee‐Young Lee, Yangmee Kim   +7 more
wiley   +1 more source

Three phosphatase families form a community: The phosphohydrolases that act upon inositol pyrophosphates

FEBS Letters, EarlyView.
Inositol pyrophosphates are energy‐rich signaling molecules that perform critical functions in cells. Three different families of phosphatases hydrolyze the β phosphate of the inositol pyrophosphate molecules: two have narrow specificities and one is promiscuous.
Ronda J. Rolfes
wiley   +1 more source

SZDB: A Database for Schizophrenia Genetic Research [PDF]

Schizophrenia Bulletin, 2016
Schizophrenia (SZ) is a debilitating brain disorder with a complex genetic architecture. Genetic studies, especially recent genome-wide association studies (GWAS), have identified multiple variants (loci) conferring risk to SZ. However, how to efficiently extract meaningful biological information from bulk genetic findings of SZ remains a major ...
Yong, Wu, Yong-Gang, Yao, Xiong-Jian, Luo   +2 more
openaire   +2 more sources

Building a livestock genetic and genomic information knowledgebase through integrative developments of Animal QTLdb and CorrDB

Nucleic Acids Res., 2018
Successful development of biological databases requires accommodation of the burgeoning amounts of data from high-throughput genomics pipelines. As the volume of curated data in Animal QTLdb (https://www.animalgenome.org/QTLdb) increases exponentially ...
Zhi-Liang Hu, Carissa A. Park, J. Reecy
semanticscholar   +1 more source

IndiGenomes: a comprehensive resource of genetic variants from over 1000 Indian genomes

Nucleic Acids Research, 2020
With the advent of next-generation sequencing, large-scale initiatives for mining whole genomes and exomes have been employed to better understand global or population-level genetic architecture.
Abhinav R Jain, R. Bhoyar, Kavita Pandhare, A. Mishra, D. Sharma, M. Imran, V. Senthivel, M. Divakar, M. Rophina, B. Jolly, Arushi Batra, Sumit Sharma, Sanjay Siwach, A. Jadhao, N. V. Palande, G. N. Jha, Nishat Ashrafi, P. Mishra, Vidhya A. K., Suman Jain, D. Dash, N. S. Kumar, A. Vanlallawma, Ranjan Jyoti Sarma, Lalchhandama Chhakchhuak, S. Kalyanaraman, Radha Mahadevan, Sunitha Kandasamy, Pabitha B. M., Raskin Erusan Rajagopal, Ezhil Ramya J., N. P., A. Bajaj, V. Gupta, Samatha Mathew, S. Goswami, Mohit Mangla, S. Prakash, Kandarp Joshi, Meyakumla, S. S., D. Gajjar, R. Soraisham, R. Yadav, Yumnam Silla Devi, Aayush Gupta, M. Mukerji, S. Ramalingam, Binukumar B. K., V. Scaria, S. Sivasubbu   +50 more
semanticscholar   +1 more source

Design and analysis strategies for robust microbiome ageing research

FEBS Letters, EarlyView.
The gut microbiome changes with age and associates with age‐related morbidity and mortality, establishing it as a potential biomarker and intervention target for ageing. Realising this potential requires methodological rigour, yet distinguishing biological signals from methodological artefacts remains challenging across cohorts. This review provides an
Mark Olenik, İsmail Güderer, Yi Wang, Tayyaba Alvi, Prasoon Pandey, Handan Melike Dönertaş   +5 more
wiley   +1 more source