Hailey–Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca2+ pump

Hailey–Hailey disease (HHD) is an autosomal dominant skin disorder characterized by suprabasal cell separation (acantholysis) of the epidermis. Previous genetic linkage studies localized the gene to a 5 cM interval on human chromosome 3q21. After reducing the disease critical region to

[1]  Amos Bairoch,et al.  The PROSITE database, its status in 2002 , 2002, Nucleic Acids Res..

[2]  T. Strachan,et al.  ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class. , 1999, Human molecular genetics.

[3]  A. Hovnanian,et al.  Spectrum of novel ATP2A2 mutations in patients with Darier's disease. , 1999, Human molecular genetics.

[4]  N. Craddock,et al.  Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease , 1999, Nature Genetics.

[5]  Amos Bairoch,et al.  The PROSITE database, its status in 1999 , 1999, Nucleic Acids Res..

[6]  Peter Lipp,et al.  Calcium - a life and death signal , 1998, Nature.

[7]  T. Pozzan,et al.  The Golgi apparatus is an inositol 1,4,5‐trisphosphate‐sensitive Ca2+ store, with functional properties distinct from those of the endoplasmic reticulum , 1998, The EMBO journal.

[8]  L. Lehle,et al.  Ca(2+)-ATPases of Saccharomyces cerevisiae: diversity and possible role in protein sorting. , 1998, FEMS microbiology letters.

[9]  R. Plemper,et al.  The medial-Golgi ion pump Pmr1 supplies the yeast secretory pathway with Ca2+ and Mn2+ required for glycosylation, sorting, and endoplasmic reticulum-associated protein degradation. , 1998, Molecular biology of the cell.

[10]  Calcium signalling: Oscillation, activation, expression , 1998, Nature.

[11]  Keli Xu,et al.  Calcium oscillations increase the efficiency and specificity of gene expression , 1998, Nature.

[12]  S. Munro Localization of proteins to the Golgi apparatus , 1998, Trends in Cell Biology.

[13]  N. Green,et al.  The Mechanism of Ca2+ Transport by Sarco(Endo)plasmic Reticulum Ca2+-ATPases* , 1997, The Journal of Biological Chemistry.

[14]  A. Finlay,et al.  Handicap in Darier's disease and Hailey‐Hailey disease , 1996, The British journal of dermatology.

[15]  P. O'Connell,et al.  Narrowing of the Hailey-Hailey disease gene region on chromosome 3q and identification of one kindred with a deletion in this region. , 1995, Genomics.

[16]  S. Bale,et al.  Hailey-Hailey disease maps to a 5 cM interval on chromosome 3q21-q24. , 1995, The Journal of investigative dermatology.

[17]  D. Woodley,et al.  Localization of the gene whose mutations underlie Hailey-Hailey disease to chromosome 3q. , 1994, Human molecular genetics.

[18]  H. Aburatani,et al.  IRE-bubble PCR: a rapid method for efficient and representative amplification of human genomic DNA sequences from complex sources. , 1994, Genomics.

[19]  Y. Suga,et al.  Successful management of Hailey-Hailey disease with potent topical steroid ointment. , 1993, Journal of dermatological science.

[20]  G. Shull,et al.  Molecular cloning and tissue distribution of alternatively spliced mRNAs encoding possible mammalian homologues of the yeast secretory pathway calcium pump. , 1992, Biochemistry.

[21]  G. Fink,et al.  The yeast Ca(2+)-ATPase homologue, PMR1, is required for normal Golgi function and localizes in a novel Golgi-like distribution. , 1992, Molecular biology of the cell.

[22]  S. Burge Hailey–Hailey disease: the clinical features, response to treatment and prognosis , 1992, The British journal of dermatology.

[23]  S. Ikeda,et al.  Effects of steroid, retinoid, and protease inhibitors on the formation of acantholysis induced in organ culture of skins from patients with benign familial chronic pemphigus. , 1991, The Journal of investigative dermatology.

[24]  J. Riley,et al.  A novel, rapid method for the isolation of terminal sequences from yeast artificial chromosome (YAC) clones. , 1990, Nucleic acids research.

[25]  M. Heenen,et al.  Reproduction of the characteristic morphologic changes of familial benign chronic pemphigus in cultures of lesional keratinocytes onto dead deepidermized dermis. , 1989, Journal of the American Academy of Dermatology.

[26]  G. Fink,et al.  The yeast secretory pathway is perturbed by mutations in PMR1, a member of a Ca2+ ATPase family , 1989, Cell.

[27]  M. Kozak An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs. , 1987, Nucleic acids research.

[28]  Y. Ovchinnikov,et al.  Affinity modification of E1‐form of Na+, K+ ‐ATPase revealed Asp‐710 in the catalytic site , 1987, FEBS letters.

[29]  N. Green,et al.  Amino-acid sequence of a Ca2+ + Mg2+ -dependent ATPase from rabbit muscle sarcoplasmic reticulum, deduced from its complementary DNA sequence , 1985, Nature.

[30]  P. Elias,et al.  Ionic calcium reservoirs in mammalian epidermis: ultrastructural localization by ion-capture cytochemistry. , 1985, The Journal of investigative dermatology.

[31]  F. Watt,et al.  Calcium-induced reorganization of desmosomal components in cultured human keratinocytes , 1984, The Journal of cell biology.

[32]  K. Holbrook,et al.  Calcium regulation of cell-cell contact and differentiation of epidermal cells in culture. An ultrastructural study. , 1983, Experimental cell research.

[33]  N. Green,et al.  Identification of a labelled peptide after stoicheiometric reaction of fluorescein isothiocyanate with the Ca2+‐dependent adenosine triphosphatase of sarcoplasmic reticulum , 1982, FEBS letters.

[34]  E. Neumann,et al.  Vaginal involvement in familial benign chronic pemphigus (Morbus Hailey-Hailey). , 1982, Acta dermato-venereologica.

[35]  D. Kahn,et al.  Esophageal involvement in familial benign chronic pemphigus. , 1974, Archives of dermatology.

[36]  W. Reed,et al.  Familial Benign Chronic Pemphigus: Induction of Lesions by Candida albicans , 1967 .

[37]  J. Caulfield,et al.  An Electronmicroscopic Study of Acantholysis and Dyskeratosis in Hailey and Hailey's Disease * , 1962 .

[38]  D. Palmer,et al.  Benign familial chronic pemphigus =عاقفلا نمزملا يلئاعلا ميلسلا _يليه يليه , 2018 .

[39]  L. Loewenthal Familial benign chronic pemphigus: the role of pyogenic bacteria. , 1959, Archives of dermatology.

[40]  H. Hailey,et al.  FAMILIAL BENIGN CHRONIC PEMPHIGUS , 1939 .