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Kinase mutations in human disease: Interpreting genotype-phenotype relationships

Academic Article
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Overview

authors

  • Lahiry, P.
  • Torkamani, Ali
  • Schork, Nicholas
  • Hegele, R. A.

publication date

  • January 2010

journal

  • Nature Reviews Genetics  Journal

abstract

  • 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.

subject areas

  • Animals
  • DNA Mutational Analysis
  • Disease Models, Animal
  • Genetic Diseases, Inborn
  • Genotype
  • Germ-Line Mutation
  • Humans
  • Models, Biological
  • Models, Genetic
  • Models, Molecular
  • Multigene Family
  • Mutation
  • Neoplasms
  • Phenotype
  • Phosphotransferases
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Identity

International Standard Serial Number (ISSN)

  • 1471-0056

Digital Object Identifier (DOI)

  • 10.1038/nrg2707

PubMed ID

  • 20019687
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Additional Document Info

start page

  • 60

end page

  • 74

volume

  • 11

issue

  • 1

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