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Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease.
Sakuntabhai A, Ruiz-Perez V, Carter S, Jacobsen N, Burge S, Monk S, Smith M, Munro CS, O'Donovan M, Craddock N, Kucherlapati R, Rees JL, Owen M, Lathrop GM, Monaco AP, Strachan T, Hovnanian A. Sakuntabhai A, et al. Among authors: burge s. Nat Genet. 1999 Mar;21(3):271-7. doi: 10.1038/6784. Nat Genet. 1999. PMID: 10080178
Mosaicism for ATP2A2 mutations causes segmental Darier's disease.
Sakuntabhai A, Dhitavat J, Burge S, Hovnanian A. Sakuntabhai A, et al. Among authors: burge s. J Invest Dermatol. 2000 Dec;115(6):1144-7. doi: 10.1046/j.1523-1747.2000.00182.x. J Invest Dermatol. 2000. PMID: 11121153 Free article.
Refined genetic mapping of the darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region.
Monk S, Sakuntabhai A, Carter SA, Bryce SD, Cox R, Harrington L, Levy E, Ruiz-Perez VL, Katsantoni E, Kodvawala A, Munro CS, Burge S, Larrègue M, Nagy G, Rees JL, Lathrop M, Monaco AP, Strachan T, Hovnanian A. Monk S, et al. Among authors: burge s. Am J Hum Genet. 1998 Apr;62(4):890-903. doi: 10.1086/301794. Am J Hum Genet. 1998. PMID: 9529352 Free PMC article.
Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump.
Sudbrak R, Brown J, Dobson-Stone C, Carter S, Ramser J, White J, Healy E, Dissanayake M, Larrègue M, Perrussel M, Lehrach H, Munro CS, Strachan T, Burge S, Hovnanian A, Monaco AP. Sudbrak R, et al. Among authors: burge s. Hum Mol Genet. 2000 Apr 12;9(7):1131-40. doi: 10.1093/hmg/9.7.1131. Hum Mol Genet. 2000. PMID: 10767338
The gene for Darier's disease maps between D12S78 and D12S79.
Parfitt E, Burge S, Craddock N, Roberts E, McLean WH, Weissenbach J, McGuffin P, Owen M. Parfitt E, et al. Among authors: burge s. Hum Mol Genet. 1994 Jan;3(1):35-8. doi: 10.1093/hmg/3.1.35. Hum Mol Genet. 1994. PMID: 7512859
359 results