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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: hovnanian a. Nat Genet. 1999 Mar;21(3):271-7. doi: 10.1038/6784. Nat Genet. 1999. PMID: 10080178
Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.
Hovnanian A, Rochat A, Bodemer C, Petit E, Rivers CA, Prost C, Fraitag S, Christiano AM, Uitto J, Lathrop M, Barrandon Y, de Prost Y. Hovnanian A, et al. Am J Hum Genet. 1997 Sep;61(3):599-610. doi: 10.1086/515495. Am J Hum Genet. 1997. PMID: 9326325 Free PMC article.
A sequence-ready physical map of a region of 12q24.1.
Renault B, Hovnanian A, Bryce S, Chang JJ, Lau S, Sakuntabhai A, Monk S, Carter S, Ross CJ, Pang J, Twells R, Chamberlain S, Monaco AP, Strachan T, Kucherlapati R. Renault B, et al. Among authors: hovnanian a. Genomics. 1997 Oct 15;45(2):271-8. doi: 10.1006/geno.1997.4888. Genomics. 1997. PMID: 9344649
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: hovnanian a. Am J Hum Genet. 1998 Apr;62(4):890-903. doi: 10.1086/301794. Am J Hum Genet. 1998. PMID: 9529352 Free PMC article.
Deletions within COL7A1 exons distant from consensus splice sites alter splicing and produce shortened polypeptides in dominant dystrophic epidermolysis bullosa.
Sakuntabhai A, Hammami-Hauasli N, Bodemer C, Rochat A, Prost C, Barrandon Y, de Prost Y, Lathrop M, Wojnarowska F, Bruckner-Tuderman L, Hovnanian A. Sakuntabhai A, et al. Among authors: hovnanian a. Am J Hum Genet. 1998 Sep;63(3):737-48. doi: 10.1086/302029. Am J Hum Genet. 1998. PMID: 9718359 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: hovnanian a. Hum Mol Genet. 2000 Apr 12;9(7):1131-40. doi: 10.1093/hmg/9.7.1131. Hum Mol Genet. 2000. PMID: 10767338
288 results