Spatial distribution of disease-associated variants in three-dimensional structures of protein complexes
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cancer Research,Molecular Biology
Link
http://www.nature.com/articles/oncsis201779.pdf
Reference82 articles.
1. Cooper DN, Krawczak M, Polychronakos C, Tyler-Smith C, Kehrer-Sawatzki H . Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human in-herited disease. Hum Genet 2013; 132: 1077–1130.
2. 1000 Genomes Project Consortium. A map of human genome variation from population-scale sequencing. Nature 2010; 467: 1061–1073.
3. Landrum MJ, Lee JN, Bensom M, Brown G, Chao C, Chitipiralla S et al. ClinVar: public archive of interpretations of clinically relevant variants. Nucleic Acids Res 2016; 44: D862–D868.
4. Petukh M, Kucukkal TG, Alexov E . On human disease-causing amino acid variants: statistical study of sequence and structural patterns. Hum Mutat 2015; 36: 524–534.
5. De Beer TAP, Laskowski RA, Parks SL, Sipos B, Goldman N, Thornton JM . Aminoacid changes in disease-associated variants differ radically from variants observed in the 1000 genomes project dataset. PLoS Comput Biol 2013; 9: 1–15.
Cited by 20 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Alterations in SAMD9, AHSG, FRG2C, and FGFR4 Genes in a Case of Late-Onset Massive Tumoral Calcinosis;AACE Clinical Case Reports;2023-09
2. Diverse Molecular Mechanisms Underlying Pathogenic Protein Mutations: Beyond the Loss-of-Function Paradigm;Annual Review of Genomics and Human Genetics;2022-08-31
3. Single Amino Acid Substitution in the DNA Repairing Gene Radiation-Sensitive 4 Contributes to Ultraviolet Tolerance of a Plant Pathogen;Frontiers in Microbiology;2022-07-14
4. d-StructMAn: Containerized structural annotation on the scale from genetic variants to whole proteomes;GigaScience;2022
5. Pathogenic missense protein variants affect different functional pathways and proteomic features than healthy population variants;PLOS Biology;2021-04-28
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3