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.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“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]
Citations
Cites
The protein kinase complement of the human genome
Manning, G., Whyte, D. B., Martinez, R., Hunter, T., & Sudarsanam, S. (2002) · Science · doi:10.1126/science.1075762 · Cited by 8,145
Mitogen-Activated Protein Kinase Pathways Mediated by ERK, JNK, and p38 Protein Kinases
Johnson, G. L., & Lapadat, R. (2002) · Science · doi:10.1126/science.1072682 · Cited by 4,295
Seger, R., & Krebs, E. G. (1995) · The FASEB Journal · doi:10.1096/fasebj.9.9.7601337 · Cited by 3,631
Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders
Baxter, E. J., Scott, L. M., Campbell, P. J., East, C., Fourouclas, N., Swanton, S., Vassiliou, G. S., Bench, A. J., Boyd, E. M., Curtin, N., et al. (2005) · The Lancet · doi:10.1016/s0140-6736(05)71142-9 · Cited by 3,548
Hopkins, A. L., & Groom, C. R. (2002) · Nature Reviews Drug Discovery · doi:10.1038/nrd892 · Cited by 3,305
Principles of interleukin (IL)-6-type cytokine signalling and its regulation
HEINRICH, P. C., BEHRMANN, I., HAAN, S., HERMANNS, H. M., MÜLLER-NEWEN, G., & SCHAPER, F. (2003) · Biochemical Journal · doi:10.1042/bj20030407 · Cited by 3,272
A census of human cancer genes
Futreal, P. A., Coin, L., Marshall, M., Down, T., Hubbard, T., Wooster, R., Rahman, N., & Stratton, M. R. (2004) · Nature Reviews Cancer · doi:10.1038/nrc1299 · Cited by 3,184
Patterns of somatic mutation in human cancer genomes
Greenman, C. D., Stephens, P., Smith, R., Dalgliesh, G. L., Hunter, C., Bignell, G. R., Davies, H. R., Teague, J. W., Butler, A. P., Stevens, C., et al. (2007) · Nature · doi:10.1038/nature05610 · Cited by 3,143
Clinical Resistance to STI-571 Cancer Therapy Caused by BCR-ABL Gene Mutation or Amplification
Gorre, M. E., Mohammed, M., Ellwood, K., Hsu, N., Paquette, R., Rao, P. N., & Sawyers, C. L. (2001) · Science · doi:10.1126/science.1062538 · Cited by 3,104
Mechanism of Activation of the RAF-ERK Signaling Pathway by Oncogenic Mutations of B-RAF
Wan, P., Garnett, M. J., Roe, S. M., Lee, S., Niculescu‐Duvaz, D., Good, V. M., Cancer Genome Project, Jones, C. M., Marshall, C. J., Springer, C. J., et al. (2004) · Cell · doi:10.1016/s0092-8674(04)00215-6 · Cited by 2,863
The eukaryotic protein kinase superfamily: kinase (catalytic) domain structure and classification 1
Hanks, S. K., & Hunter, T. (1995) · The FASEB Journal · doi:10.1096/fasebj.9.8.7768349 · Cited by 2,828
Hanks, S. K., & Hunter, T. R. (1995) · PubMed · Cited by 2,518
Regulation of neuronal survival by the serine-threonine protein kinase Akt
Dudek, H., Datta, S. R., Franke, T. F., Birnbaum, M. J., Yao, R., Cooper, G. M., Segal, R. A., Kaplan, D. R., & Greenberg, M. E. (1997) · Science · doi:10.1126/science.275.5300.661 · Cited by 2,436
Genome-wide association study identifies novel breast cancer susceptibility loci
Easton, D. F., Pooley, K. A., Dunning, A. M., Pharoah, P. D. P., Thompson, D., Ballinger, D. G., Struewing, J. P., Morrison, J., Field, H., Luben, R., et al. (2007) · Nature · doi:10.1038/nature05887 · Cited by 2,319
Replication of Genome-Wide Association Signals in UK Samples Reveals Risk Loci for Type 2 Diabetes
Zeggini, E., Weedon, M. N., Lindgren, C. M., Frayling, T. M., Elliott, K. S., Lango, H., Timpson, N. J., Perry, J. R. B., Rayner, N. W., Freathy, R. M., et al. (2007) · Science · doi:10.1126/science.1142364 · Cited by 2,194
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A
Mulligan, L. M., Kwok, J. B., Healey, C. S., Elsdon, M. J., Eng, C., Gardner, E., Love, D. R., Mole, S., Moore, J. K., Papi, L., et al. (1993) · Nature · doi:10.1038/363458a0 · Cited by 1,956
Cho, H., Mu, J., Kim, J. K., Thorvaldsen, J. L., Chu, Q., Crenshaw, E. B., Kaestner, K. H., Bartolomei, M. S., Shulman, G. I., & Birnbaum, M. J. (2001) · Science · doi:10.1126/science.292.5522.1728 · Cited by 1,860
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
Tartaglia, M., Mehler, E. L., Goldberg, R. B., Zampino, G., Brunner, H. G., Kremer, H., van der Burgt, I., Crosby, A. H., Ion, A., Jeffery, S., et al. (2001) · Nature Genetics · doi:10.1038/ng772 · Cited by 1,736
A Common Allele on Chromosome 9 Associated with Coronary Heart Disease
McPherson, R., Pertsemlidis, A., Kavaslar, N., Stewart, A., Roberts, R., Cox, D. R., Hinds, D. A., Pennacchio, L. A., Tybjaerg-Hansen, A., Folsom, A. R., et al. (2007) · Science · doi:10.1126/science.1142447 · Cited by 1,587
PROTEIN SERINE/THREONINE KINASES
Edelman, A. M., Blumenthal, D., & Krebs, E. G. (1987) · Annual Review of Biochemistry · doi:10.1146/annurev.bi.56.070187.003031 · Cited by 1,435
Identification of ALK as a major familial neuroblastoma predisposition gene
Mossé, Y. P., Laudenslager, M., Longo, L., Cole, K. A., Wood, A., Attiyeh, E. F., Laquaglia, M. J., Sennett, R., Lynch, J. E., Perri, P., et al. (2008) · Nature · doi:10.1038/nature07261 · Cited by 1,407
Self-citationShiang, R., Thompson, L. M., Zhu, Y., Church, D. M., Fielder, T. J., Bocian, M. E., Winokur, S. T., & Wasmuth, J. J. (1994) · Cell · doi:10.1016/0092-8674(94)90302-6 · Cited by 1,329
BRAF mutation predicts sensitivity to MEK inhibition
Solit, D. B., Garraway, L. A., Pratilas, C. A., Sawai, A., Getz, G. A., Basso, A., Ye, Q., Lobo, J. M., She, Y., Osman, I., et al. (2005) · Nature · doi:10.1038/nature04304 · Cited by 1,326
The International Consortium for Systemic Lupus Erythematosus Genetics (SLEGEN), Harley, J. B., Alarcón-Riquelme, M. E., Criswell, L. A., Jacob, C. O., Kimberly, R. P., Moser, K. L., Tsao, B. P., Vyse, T. J., & Langefeld, C. D. (2008) · Nature Genetics · doi:10.1038/ng.81 · Cited by 1,309
Shore, E. M., Xu, M., Feldman, G. J., Fenstermacher, D., Cho, T., Choi, I. H., Connor, J. M., Delai, P. L. R., Glaser, D. L., Merrer, M. F. L., et al. (2006) · Nature Genetics · doi:10.1038/ng1783 · Cited by 1,215
Kirschner, L. S., Carney, J. A., Pack, S. D., Taymans, S. E., Giatzakis, C., Cho, Y. S., Cho-Chung, Y. S., & Stratakis, C. A. (2000) · Nature Genetics · doi:10.1038/79238 · Cited by 1,153
Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders
Baxter, E. J., SCOTT, L., Campbell, P. J., et al. (2005) · The Lancet · doi:10.1016/s0140-6736(05)74230-6 · Cited by 1,141
Coussens, L. M., Parker, P. J., Rhee, L. M., Yang‐Feng, T. L., Chen, E., Waterfield, M. D., Francke, U., & Ullrich, A. (1986) · Science · doi:10.1126/science.3755548 · Cited by 1,042
Evolution of protein kinase signaling from yeast to man
Manning, G., Plowman, G. D., Hunter, T. R., & Sudarsanam, S. (2002) · Trends in Biochemical Sciences · doi:10.1016/s0968-0004(02)02179-5 · Cited by 1,004
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
Wilkie, A. O. M., Slaney, S. F., Oldridge, M., Poole, M. D., Ashworth, G. J., Hockley, A. D., Hayward, R. D., David, D. J., Pulleyn, L. J., Rutland, P., et al. (1995) · Nature Genetics · doi:10.1038/ng0295-165 · Cited by 935
Oncogenic mutations of ALK kinase in neuroblastoma
Chen, Y., Takita, J., Choi, Y. L., Kato, M., Ohira, M., Sanada, M., Wang, L., Soda, M., Kikuchi, A., Igarashi, T., et al. (2008) · Nature · doi:10.1038/nature07399 · Cited by 930
The Catalogue of Somatic Mutations in Cancer (COSMIC)
Forbes, S. A., Bhamra, G., Bamford, S., Dawson, E., Kok, C. Y., Clements, J., Menzies, A. H., Teague, J. W., Futreal, P. A., & Stratton, M. R. (2008) · Current Protocols in Human Genetics · doi:10.1002/0471142905.hg1011s57 · Cited by 899
On target with a new mechanism for the regulation of protein phosphorylation
Hubbard, M. J., & Cohen, P. (1993) · Trends in Biochemical Sciences · doi:10.1016/0968-0004(93)90109-z · Cited by 896
Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma
Janoueix‐Lerosey, I., Lequin, D., Brugières, L., Ribeiro, A., de Pontual, L., Combaret, V., Raynal, V., Puisieux, A., Schleiermacher, G., Pierron, G., et al. (2008) · Nature · doi:10.1038/nature07398 · Cited by 893
Activating mutations in ALK provide a therapeutic target in neuroblastoma
George, R. E., Sanda, T., Hanna, M., Fröhling, S., II, W. L., Zhang, J., Ahn, Y., Zhou, W., London, W. B., McGrady, P., et al. (2008) · Nature · doi:10.1038/nature07397 · Cited by 893
A TEL-JAK2 Fusion Protein with Constitutive Kinase Activity in Human Leukemia
Penard‐Lacronique, V., Boureux, A., Della-Valle, V., Poirel, H. A., Quang, C. T., Mauchauffé, M., Berthou, C., Lessard, M., Berger, R., Ghysdael, J., et al. (1997) · Science · doi:10.1126/science.278.5341.1309 · Cited by 796
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome
Reardon, W., Winter, R., Rutland, P., Pulleyn, L., Jones, B., & Malcolm, S. (1994) · Nature Genetics · doi:10.1038/ng0994-98 · Cited by 746
Winkelmann, J., Schormair, B., Lichtner, P., Ripke, S., Xiong, L., Jalilzadeh, S., Fulda, S., Pütz, B., Eckstein, G., Hauk, S., et al. (2007) · Nature Genetics · doi:10.1038/ng2099 · Cited by 706
BMP type I receptor inhibition reduces heterotopic ossification
Yu, P. B., Deng, D. Y., Lai, C. S. C., Hong, C. C., Cuny, G. D., Bouxsein, M., Hong, D. W., McManus, P. M., Katagiri, T., Sachidanandan, C., et al. (2008) · Nature Medicine · doi:10.1038/nm.1888 · Cited by 641
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
Muenke, M., Schell, U., Hehr, A., Robin, N. H., Losken, H. W., Schinzel, A., Pulleyn, L. J., Rutland, P., Reardon, W., Malcolm, S., et al. (1994) · Nature Genetics · doi:10.1038/ng1194-269 · Cited by 614
Colocalization of X-Linked Agammaglobulinemia and X-Linked Immunodeficiency Genes
Thomas, J. D., Sideras, P., Smith, C. I. E., Vořechovský, I., Chapman, V. M., & Paul, W. E. (1993) · Science · doi:10.1126/science.8332900 · Cited by 613
Tavormina, P. L., Shiang, R., Thompson, L. M., Zhu, Y., Wilkin, D. J., Lachman, R. S., Wilcox, W. R., Rimoin, D. L., Cohn, D. H., & Wasmuth, J. J. (1995) · Nature Genetics · doi:10.1038/ng0395-321 · Cited by 602
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
Niihori, T., Aoki, Y., Narumi, Y., Neri, G., Cavé, H., Verloès, A., Okamoto, N., Hennekam, R. C. M., Gillessen‐Kaesbach, G., Wieczorek, D., et al. (2006) · Nature Genetics · doi:10.1038/ng1749 · Cited by 597
Germline Mutations in Genes Within the MAPK Pathway Cause Cardio-facio-cutaneous Syndrome
Rodriguez‐Viciana, P., Tetsu, O., Tidyman, W. E., Estep, A. L., Conger, B. A., Cruz, M. S., McCormick, F. P., & Rauen, K. A. (2006) · Science · doi:10.1126/science.1124642 · Cited by 569
A Family with Severe Insulin Resistance and Diabetes Due to a Mutation in AKT2
George, S., Rochford, J. J., Wolfrum, C., Gray, S. L., Schinner, S., Wilson, J. C., Soos, M. A., Murgatroyd, P. R., Williams, R. M., Acerini, C. L., et al. (2004) · Science · doi:10.1126/science.1096706 · Cited by 562
The Australia and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene) (2009) · Nature Genetics · doi:10.1038/ng.396 · Cited by 550
Craniosynostosis: genes and mechanisms
Wilkie, A. O. M. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.10.1647 · Cited by 528
Zonana, J., Elder, M. E., Schneider, L. C., Orlow, S. J., Moss, C., Golabi, M., Shapira, S. K., Farndon, P. A., Wara, D. W., Emmal, S. A., et al. (2000) · The American Journal of Human Genetics · doi:10.1086/316914 · Cited by 521
Severe liver degeneration and lack of NF-kappaB activation in NEMO/IKKgamma-deficient mice.
Rudolph, D., Yeh, W., Wakeham, A. C., Rudolph, B., Nallainathan, D., Potter, J., Elia, A., & Mak, T. W. (2000) · PubMed Central · Cited by 518
Peeters, P. J., Raynaud, S., Cools, J., Włodarska, I., Grosgeorge, J., Philip, P., Monpoux, F., Rompaey, L. V., Baens, M., BERGHE, H. V. D., et al. (1997) · Blood · doi:10.1182/blood.v90.7.2535 · Cited by 489
Severe liver degeneration and lack of NF-κ B activation in NEMO/IKKγ-deficient mice
Rudolph, D., Yeh, W.-C., Wakeham, A., Rudolph, B., Nallainathan, D., Potter, J., Elia, A. J., & Mak, T. W. (2000) · Genes & Development · doi:10.1101/gad.14.7.854 · Cited by 479
RET tyrosine kinase signaling in development and cancer.
Arighi, E., Borrello, M. G., & Sariola, H. (2005) · Cytokine & growth factor reviews · doi:10.1016/j.cytogfr.2005.05.010 · Cited by 476
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes
Rutland, P., Pulleyn, L. J., Reardon, W., Baraitser, M., Hayward, R. D., Jones, B. M., Malcolm, S., Winter, R. M., Oldridge, M., Slaney, S. F., et al. (1995) · Nature Genetics · doi:10.1038/ng0295-173 · Cited by 445
BMP Type II Receptor Is Required for Gastrulation and Early Development of Mouse Embryos
Beppu, H., Kawabata, M., Hamamoto, T., Chytil, A. M., Minowa, O., Noda, T., & Miyazono, K. (2000) · Developmental Biology · doi:10.1006/dbio.2000.9670 · Cited by 420
Welch, P. J. (1993) · Cell · doi:10.1016/0092-8674(93)90497-e · Cited by 407
Meyers, G. A., Orlow, S. J., Munro, I. R., Przylepa, K. A., & Jabs, E. W. (1995) · Nature Genetics · doi:10.1038/ng1295-462 · Cited by 392
Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis
Semple, R. K., Sleigh, A., Murgatroyd, P. R., Adams, C. A., Bluck, L. J. C., Jackson, S. J., Vottero, A., Kanabar, D. J., Charlton-Menys, V., Durrington, P. N., et al. (2009) · Journal of Clinical Investigation · doi:10.1172/jci37432 · Cited by 347
Petzer, A. L., Hogge, D. E., Landsdorp, P. M., Reid, D. S., & Eaves, C. J. (1996) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.93.4.1470 · Cited by 346
Mutations that Cause Osteoglophonic Dysplasia Define Novel Roles for FGFR1 in Bone Elongation
White, K. E., Cabral, J. M., Davis, S. I., Fishburn, T., Evans, W., Ichikawa, S., Fields, J., Yu, X., Shaw, N. J., McLellan, N., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/427956 · Cited by 328
Bellus, G. A., Gaudenz, K., Zackai, E. H., Clarke, L. A., Szabo, J., Francomano, C. A., & Muenke, M. (1996) · Nature Genetics · doi:10.1038/ng1096-174 · Cited by 311
Endothelial apoptosis in Braf-deficient mice
Wojnowski, L., Zimmer, A. M., Beck, T. W., Hahn, H., Bernal, R. A., Rapp, U. R., & Zimmer, A. (1997) · Nature Genetics · doi:10.1038/ng0797-293 · Cited by 299
Whole-genome association study identifies STK39 as a hypertension susceptibility gene
Wang, Y., O'Connell, J. R., McArdle, P. F., Wade, J. B., Dorff, S. E., Shah, S. J., Shi, X., Pan, L., Rampersaud, E., Shen, H., et al. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0808358106 · Cited by 298
The t(8;9)(p22;p24) Is a Recurrent Abnormality in Chronic and Acute Leukemia that Fuses PCM1 to JAK2
Reiter, A., Walz, C., Watmore, A. E., Schoch, C., Blau, I., Schlegelberger, B., Berger, U., Telford, N., Aruliah, S., Yin, J. A. L., et al. (2005) · Cancer Research · doi:10.1158/0008-5472.can-04-4263 · Cited by 269
Regulation and targets of receptor tyrosine kinases
Pawson, T. J. (2002) · European Journal of Cancer · doi:10.1016/s0959-8049(02)80597-4 · Cited by 265
Structural and Functional Diversity of the Microbial Kinome
Kannan, N., Taylor, S. S., Zhai, Y., Venter, J. C., & Manning, G. (2007) · PLoS Biology · doi:10.1371/journal.pbio.0050017 · Cited by 265
The BCR gene encodes a novel serine/threonine kinase activity within a single exon
Maru, Y., & Witte, O. N. (1991) · Cell · doi:10.1016/0092-8674(91)90521-y · Cited by 262
Genome-wide identification of genes likely to be involved in human genetic disease
López-Bigas, N. (2004) · Nucleic Acids Research · doi:10.1093/nar/gkh605 · Cited by 260
Pitteloud, N., Acierno, J. S., Meysing, A., Eliseenkova, A. V., Ma, J., Ibrahimi, O. A., Metzger, D. L., Hayes, F. J., Dwyer, A. A., Hughes, V. A., et al. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0600962103 · Cited by 242
Chen, D.-H., Brkanac, Z., Verlinde, C. L. M. J., Tan, X.-J., Bylenok, L., Nochlin, D., Matsushita, M. M., Lipe, H., Wolff, J., Fernandez, M. J., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/373883 · Cited by 238
Kannan, N., Haste, N. M., Taylor, S. S., & Neuwald, A. F. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0610251104 · Cited by 236
Mouse Ror2 receptor tyrosine kinase is required for the heart development and limb formation
Takeuchi, S., Takeda, K., Oishi, I., Nomi, M., Ikeya, M., Itoh, K., Tamura, S., Ueda, T., Hatta, T., Otani, H., et al. (2000) · Genes to Cells · doi:10.1046/j.1365-2443.2000.00300.x · Cited by 224
Lynch, D. K., Ellis, C. A., Edwards, P. A., & Hiles, I. D. (1999) · Oncogene · doi:10.1038/sj.onc.1203258 · Cited by 216
Schork, N. J. (1997) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/ajrccm.156.4.12-tac-5 · Cited by 202
Self-citationThe amino-acid mutational spectrum of human genetic disease
Vitkup, D., Sander, C., & Church, G. M. (2003) · Genome biology · doi:10.1186/gb-2003-4-11-r72 · Cited by 201
Renal Aplasia in Humans Is Associated with RET Mutations
Skinner, M. A., Safford, S. D., Reeves, J. G., Jackson, M. E., & Freemerman, A. J. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.10.008 · Cited by 197
Frequent Alterations in the Expression of Serine/Threonine Kinases in Human Cancers
Capra, M. C., Nuciforo, P. G., Confalonieri, S., Quarto, M., Bianchi, M., Nebuloni, M., Boldorini, R. L., Pallotti, F., Viale, G., Gishizky, M. L., et al. (2006) · Cancer Research · doi:10.1158/0008-5472.can-05-3489 · Cited by 196
Cheung, E. C., Joza, N. A., Steenaart, N. A. E., McClellan, K. A., Neuspiel, M., McNamara, S., MacLaurin, J. G., Rippstein, P. U., Park, D. S., Shore, G. C., et al. (2006) · The EMBO Journal · doi:10.1038/sj.emboj.7601276 · Cited by 191
The nuclear serine/threonine protein kinase DNA-PK.
Anderson, C. W., & Lees‐Miller, S. P. (1992) · PubMed · Cited by 191
Demiroglu, A., Baxter, E. J., Heath, C., Taylor, K. M., Bentley, M. A., Allen, S. L., Koduru, P., BRODY, J. P., Hawson, G. A. T., Rodwell, R. L., et al. (2001) · Blood · doi:10.1182/blood.v98.13.3778 · Cited by 190
Cheng, G., Ye, Z. S., & Baltimore, D. (1994) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.91.17.8152 · Cited by 171
Sparsø, T., Andersen, G., Nielsen, T., Burgdorf, K. S., Gjesing, A. P., Nielsen, A. L., Albrechtsen, A., Rasmussen, S. S., Jørgensen, T., Borch‐Johnsen, K., et al. (2007) · Diabetologia · doi:10.1007/s00125-007-0865-z · Cited by 171
Groussin, L., Jullian, E. H., Perlemoine, K., Louvel, A., Leheup, B., LUTON, J. P., BERTAGNA, X. Y., & Bertherat, J. Y. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2002-020592 · Cited by 168
Eng, C., Crossey, P. A., Mulligan, L. M., Healey, C. S., Houghton, C. A., Prowse, A. H., Chew, S. L., Dahia, P. L. M., O'Riordan, J. L. H., & Toledo, S. P. A. (1995) · Journal of Medical Genetics · doi:10.1136/jmg.32.12.934 · Cited by 167
Kannan, N., & Neuwald, A. F. (2005) · Journal of Molecular Biology · doi:10.1016/j.jmb.2005.06.057 · Cited by 159
Variant between CPT1B and CHKB associated with susceptibility to narcolepsy
Miyagawa, T., Kawashima, M., Nishida, N., Ohashi, J., Kimura, R., Fujimoto, A., Shimada, M., Morishita, S., Shigeta, T., Lin, L., et al. (2008) · Nature Genetics · doi:10.1038/ng.231 · Cited by 152
WNK1 Activates ERK5 by an MEKK2/3-dependent Mechanism
Xu, B.-E., Stippec, S., Lenertz, L. Y., Lee, B., Zhang, W., Lee, Y.-K., & Cobb, M. H. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m313465200 · Cited by 148
Primary Immunodeficiency Diseases: A Molecular and Genetic Approach
Holland, S. M., & Fleisher, T. A. (1999) · Clinical Immunology · doi:10.1006/clim.1999.4715 · Cited by 145
Mutations of the RET-GDNF Signaling Pathway in Ondine's Curse
Amiel, J., Salomon, R., Attié‐Bitach, T., Pelet, A., Trang, H., Mokhtari, M., Gaultier, C., Münnich, A., & Lyonnet, S. (1998) · The American Journal of Human Genetics · doi:10.1086/301759 · Cited by 117
Ror2, a developmentally regulated kinase, promotes tumor growth potential in renal cell carcinoma
Wright, T. M., Brannon, A. R., Gordan, J. D., Mikels, A. J., Mitchell, C., Chen, S., Espinosa, Í., van de Rijn, M., Pruthi, R. S., Wallen, E., et al. (2009) · Oncogene · doi:10.1038/onc.2009.116 · Cited by 116
Current concepts in RET-related genetics, signaling and therapeutics
Plaza-Menacho, I., Burzynski, G. M., de Groot, J. W. B., Eggen, B. J. L., & Hofstra, R. M. W. (2006) · Trends in Genetics · doi:10.1016/j.tig.2006.09.005 · Cited by 109
Bone Morphogenetic Protein Receptor Type II C-Terminus Interacts with c-Src
Wong, W. K. P., Knowles, J. A., & Morse, J. H. (2005) · American Journal of Respiratory Cell and Molecular Biology · doi:10.1165/rcmb.2005-0103oc · Cited by 104
Tefferi, A., Lasho, T. L., Patnaik, M. M., Finke, C. M., Hussein, K., Hogan, W. J., Elliott, M. A., Litzow, M. R., Hanson, C. A., & Pardanani, A. D. (2009) · Leukemia · doi:10.1038/leu.2009.225 · Cited by 104
Cancer driver mutations in protein kinase genes
Torkamani, A., Verkhivker, G. M., & Schork, N. J. (2008) · Cancer Letters · doi:10.1016/j.canlet.2008.11.008 · Cited by 102
Self-citationPrediction of Cancer Driver Mutations in Protein Kinases
Torkamani, A., & Schork, N. J. (2008) · Cancer Research · doi:10.1158/0008-5472.can-07-5283 · Cited by 102
Self-citationRoles of FGF signaling in skeletal development and human genetic diseases
Lin, C. (2005) · Frontiers in bioscience · doi:10.2741/1671 · Cited by 94
LMNA mutation position predicts organ system involvement in laminopathies
Hegele, R. A. (2005) · Clinical Genetics · doi:10.1111/j.1399-0004.2005.00447.x · Cited by 93
Self-citationPouliot, F., Blais, A., & Labrie, C. (2003) · PubMed · Cited by 82
Fu, Z., Larson, K. A., Chitta, R. K., Parker, S. A., Turk, B. E., Lawrence, M. W., Kaldis, P., Galaktionov, K. I., Cohn, S. M., Shabanowitz, J., et al. (2006) · Molecular and Cellular Biology · doi:10.1128/mcb.00816-06 · Cited by 80
MAPK regulation of gene expression in airway smooth muscle
Gerthoffer, W. T., & Singer, C. A. (2003) · Respiratory Physiology & Neurobiology · doi:10.1016/s1569-9048(03)00150-2 · Cited by 79
Desmots, F., Russell, H. R., Michel, D., & McKinnon, P. J. (2007) · Journal of Biological Chemistry · doi:10.1074/jbc.m706419200 · Cited by 75
Narkis, G., Ofir, R., Manor, E., Landau, D., Elbedour, K., & Birk, O. S. (2007) · The American Journal of Human Genetics · doi:10.1086/520770 · Cited by 73
O’Donovan, M. C., Norton, N., Williams, H. J., Peirce, T., Moskvina, V., Nikolov, I., Hamshere, M. L., Carroll, L. S., Georgieva, L., Dwyer, S., et al. (2008) · Molecular Psychiatry · doi:10.1038/mp.2008.108 · Cited by 72
Lahiry, P., Wang, J., Robinson, J. F., Turowec, J. P., Litchfield, D. W., Lanktree, M. B., Gloor, G. B., Puffenberger, E. G., Strauss, K. A., Martens, M. B., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.12.017 · Cited by 68
Self-citationCongenital disease SNPs target lineage specific structural elements in protein kinases
Torkamani, A., Kannan, N., Taylor, S. S., & Schork, N. J. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0802403105 · Cited by 65
Self-citationMutation analysis of the CHK2 gene in breast carcinoma and other cancers
Ingvarsson, S., Sigbjornsdottir, B. I., Huiping, C., Hafsteinsdottir, S. H., Ragnarsson, G., Barkardottir, R. B., Arason, A., Egilsson, V., & Bergthorsson, J. T. (2002) · Breast Cancer Research · doi:10.1186/bcr435 · Cited by 63
KinMutBase: A registry of disease-causing mutations in protein kinase domains
Ortutay, C., Väliaho, J., Stenberg, K., & Vihinen, M. (2005) · Human Mutation · doi:10.1002/humu.20166 · Cited by 63
Deminoff, S. J., Howard, S. C., Hester, A., Warner, S., & Herman, P. K. (2006) · Genetics · doi:10.1534/genetics.106.059238 · Cited by 61
The second wave in kinase cancer drugs
Garber, K. (2006) · Nature Biotechnology · doi:10.1038/nbt0206-127 · Cited by 58
Aronowski, J. A., Grotta, J. C., Strong, R., & Waxham, M. N. (2000) · Journal of Cerebral Blood Flow & Metabolism · doi:10.1097/00004647-200002000-00016 · Cited by 53
Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests
Xue, F., Yu, H., Maurer, L. H., Memoll, V. A., Nutile‐McMenemy, N., Schuster, M. K., Bowden, D. W., Mao, J.-I., & Noll, W. W. (1994) · Human Molecular Genetics · doi:10.1093/hmg/3.4.635 · Cited by 53
Dixit, A., Torkamani, A., Schork, N. J., & Verkhivker, G. M. (2009) · Biophysical Journal · doi:10.1016/j.bpj.2008.10.041 · Cited by 48
Self-citationFLT3 and its Role in the Pathogenesis of Acute Myeloid Leukaemia
Reilly, J. T. (2002) · Leukemia & lymphoma/Leukemia and lymphoma · doi:10.1080/1042819021000040233 · Cited by 45
What’s new in the neuro-cardio-facial-cutaneous syndromes?
Denayer, E., & Legius, E. (2007) · European Journal of Pediatrics · doi:10.1007/s00431-007-0535-7 · Cited by 38
Phenomics, Lipodystrophy, and the Metabolic Syndrome
Hegele, R. A. (2004) · Trends in Cardiovascular Medicine · doi:10.1016/j.tcm.2004.02.001 · Cited by 36
Self-citationKesler, S. R., Simensen, R. J., Voeller, K. K. S., Abidi, F., Stevenson, R. E., Schwartz, C. E., & Reiss, A. L. (2007) · Neurogenetics · doi:10.1007/s10048-007-0080-6 · Cited by 36
BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension
Sankelo, M., Flanagan, J. A., Machado, R. D., Harrison, R., Rudarakanchana, N., Morrell, N. W., Dixon, M., Halme, M. K., Puolijoki, H., Kere, J., et al. (2005) · Human Mutation · doi:10.1002/humu.20200 · Cited by 32
Molecular diagnosis of X-linked agammaglobulinaemia
Vorechkovsky, I., Zhou, J.-N., Vetrie, D. L. P., Bentley, D. R., Björkander, J., Hammarström, L. L. G., & Smith, C. I. E. (1993) · The Lancet · doi:10.1016/0140-6736(93)93172-w · Cited by 32
AIP1: a new player in TNF signaling
Guicciardi, M. E., & Gores, G. J. (2003) · Journal of Clinical Investigation · doi:10.1172/jci200318911 · Cited by 30
Distribution analysis of nonsynonymous polymorphisms within the human kinase gene family
Torkamani, A., & Schork, N. J. (2007) · Genomics · doi:10.1016/j.ygeno.2007.03.006 · Cited by 29
Self-citationAIP1: a new player in TNF signaling
Guicciardi, M. E., & Gores, G. J. (2003) · Journal of Clinical Investigation · doi:10.1172/jci18911 · Cited by 29
Alatzoglou, K. S., Hindmarsh, P. C., Brain, C. E., Torpiano, J. G., & Dattani, M. (2009) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-0322 · Cited by 25
Aronowski, J. A., & Grotta, J. C. (1996) · Brain Research · doi:10.1016/0006-8993(95)01311-3 · Cited by 25
Stenirri, S., Restagno, G., Ferrero, G. B., Alaimo, G., Sbaiz, L., Mari, C., Genitori, L., Maurizio, F., & Cremonesi, L. (2007) · Clinical Chemistry · doi:10.1373/clinchem.2007.089292 · Cited by 20
Phenomics, Lamin A/C, and Metabolic Disease
Hegele, R. A. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2007-2078 · Cited by 8
Self-citationThe prevention of breast cancer: Is genetics just diversionary?
Pike, M. C. (2002) · European Journal of Cancer · doi:10.1016/s0959-8049(02)80001-6 · Cited by 6
Elder, M. E. (2006) · doi:10.1093/oso/9780195147742.003.0014 · Cited by 1
Cited by
Sorted by citations
Angiogenic signaling pathways and anti-angiogenic therapy for cancer
Liu, Z., Chen, H., Zheng, L., Sun, L., & Shi, L. (2023) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-023-01460-1 · Cited by 1,486
Mechanisms of receptor tyrosine kinase activation in cancer
Du, Z., & Lovly, C. M. (2018) · Molecular Cancer · doi:10.1186/s12943-018-0782-4 · Cited by 1,066
Trends in kinase drug discovery: targets, indications and inhibitor design
Attwood, M. M., Fabbro, D., Sokolov, A. V., Knapp, S., & Schiöth, H. B. (2021) · Nature Reviews Drug Discovery · doi:10.1038/s41573-021-00252-y · Cited by 850
An atlas of substrate specificities for the human serine/threonine kinome
Johnson, J. L., Yaron, T. M., Huntsman, E. M., Kerelsky, A., Song, J., Regev, A., Lin, T.-Y., Liberatore, K., Cizin, D. M., Cohen, B. M., et al. (2023) · Nature · doi:10.1038/s41586-022-05575-3 · Cited by 728
The potential health effects of dietary phytoestrogens
Rietjens, I. M. C. M., Louisse, J., & Beekmann, K. (2016) · British Journal of Pharmacology · doi:10.1111/bph.13622 · Cited by 512
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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review