期刊
NATURE REVIEWS GENETICS
卷 11, 期 1, 页码 60-74出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/nrg2707
关键词
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资金
- Canadian Institutes of Health Research (CIHR) [MOP 13,430, 79,533]
- Heart and Stroke Foundation of Ontario [NA 6,018]
- Jean Davignon Distinguished Cardiovascular- Metabolic Research Award (Pfizer, Canada)
- Genome Canada through the Ontario Genomics Institute
- NIH [U54RR02504-01]
- Scripps Dickinson Fellowship
- NATIONAL CENTER FOR RESEARCH RESOURCES [UL1RR025774] Funding Source: NIH RePORTER
Protein kinases are one of the largest families of evolutionarily related proteins and comprise one of the most abundant gene families in humans. Here we survey kinase gene mutations from the perspective of human disease phenotypes and further analyse the structural features of mutant kinases, including mutational hotspots. Our evaluation of the genotype-phenotype relationship across 915 human kinase mutations-that underlie 67 single-gene diseases, mainly inherited developmental and metabolic disorders and also certain cancers-enhances our understanding of the role of kinases in development, kinase dysfunction in pathogenesis and kinases as potential targets for therapy.
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