Hailey-Hailey disease – Genetics Home Reference

Behne MJ, Tu CL, Aronchik I, Epstein E, Bench G, Bikle DD, Pozzan T, Mauro…

  • Behne MJ, Tu CL, Aronchik I, Epstein E, Bench G, Bikle DD, Pozzan T, Mauro TM. Human keratinocyte ATP2C1 localizes to the Golgi and controls Golgi Ca2+ retailers. J Spend Dermatol. 2003 Oct121(four):688-ninety four.

  • Burge SM. Hailey-Hailey disorder: the clinical capabilities, reaction to remedy and prognosis. Br J Dermatol. 1992 Mar126(3):275-eighty two.

  • Dobson-Stone C, Fairclough R, Dunne E, Brown J, Dissanayake M, Munro CS, Strachan T, Burge S, Sudbrak R, Monaco AP, Hovnanian A. Hailey-Hailey disorder: molecular and clinical characterization of novel mutations in the ATP2C1 gene. J Spend Dermatol. 2002 Feb118(two):338-forty three.

  • Foggia L, Aronchik I, Aberg K, Brown B, Hovnanian A, Mauro TM. Action of the hSPCA1 Golgi Ca2+ pump is necessary for Ca2+-mediated Ca2+ reaction and mobile viability in Darier disorder. J Cell Sci. 2006 Feb 15119(Pt four):671-nine.

  • Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, Ikeda S, Mauro T, Epstein EH Jr. Mutations in ATP2C1, encoding a calcium pump, induce Hailey-Hailey disorder. Nat Genet. 2000 Jan24(one):sixty one-five.

  • Lee SE, Lee SH. Skin Barrier and Calcium. Ann Dermatol. 2018 Jun30(3):265-275. doi: 10.5021/ad.2018.thirty.3.265. Epub 2018 Apr 23. Evaluate.

  • Missiaen L, Raeymaekers L, Dode L, Vanoevelen J, Van Baelen K, Parys JB, Callewaert G, De Smedt H, Segaert S, Wuytack F. SPCA1 pumps and Hailey-Hailey disorder. Biochem Biophys Res Commun. 2004 Oct 1322(four):1204-13. Evaluate.

  • 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. Hailey-Hailey disorder is caused by mutations in ATP2C1 encoding a novel Ca(two+) pump. Hum Mol Genet. 2000 Apr 129(seven):1131-forty.