Hailey-Hailey disease – Genetics Home Reference

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.