The DOI matches its Crossref record; 126 of the 126 references it cites were found in a registry or an index.
Kinase mutations in human disease: interpreting genotype–phenotype relationships
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.
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“Second, the discovery of rare independent somatic mutations within and across genes contributing to tumorigenesis may parallel the functional effects of inherited variants contributing to congenital disease.11, 16, 17”
From Statistical analysis strategies for association studies involving rare variants (2010) · cites this paper as [17]
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Principles of interleukin (IL)-6-type cytokine signalling and its regulation
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Clinical Resistance to STI-571 Cancer Therapy Caused by BCR-ABL Gene Mutation or Amplification
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Mechanism of Activation of the RAF-ERK Signaling Pathway by Oncogenic Mutations of B-RAF
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Metadata
- Authors
- Lahiry, P., Torkamani, A., Schork, N. J., & Hegele, R. A.
- Affiliations
- Western University (CA)
- Scripps Research Institute (US)
- Corresponding author
- Hegele, Robert A.
- Venue
- Nature Reviews Genetics
- Published
- 2010-01
- Volume
- 11
- Issue
- 1
- Pages
- 60-74
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W2095492902
- Cited by
- 420
- References
- 125
- Citations by year
- 2026: 20 · 2025: 23 · 2024: 37 · 2023: 36 · 2022: 22 · 2021: 31 · 2020: 29 · 2019: 22 · 2018: 29 · 2017: 37 · 2016: 30 · 2015: 17 · 2014: 19 · 2013: 22 · 2012: 20
- FWCI
- 1.43
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Genetics (publishedVersion)
- PubMed (publishedVersion)
- Scholarship@Western (Western University) (submittedVersion)
- Funders
- Canadian Institutes of Health Research
- National Center for Research Resources (UL1RR025774, U54RR02504-01)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Protein Kinase Regulation and GTPase Signaling
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Protein Tyrosine Phosphatases
- Keywords
- protein kinases, kinase mutations, genotype-phenotype correlation, mutational hotspots, structure-function relationship, inborn errors of metabolism, developmental disorders, cancer, therapeutic target
- MeSH terms
- Animals, Disease Models, Animal, DNA Mutational Analysis, Multigene Family, Genotype, Humans, Models, Biological, Models, Genetic, Models, Molecular, Mutation, Neoplasms, Phenotype, Phosphotransferases, Germ-Line Mutation, Genetic Diseases, Inborn
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