Hailey–Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca2+ pump
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A. Monaco | H. Lehrach | J. Ramser | T. Strachan | R. Sudbrak | Jacqueline White | C. Dobson-Stone | E. Healy | A. Hovnanian | C. Munro | S. Burge | M. Larrégue | S. Carter | Joanna H. Brown | M. Dissanayake | M. Perrussel | Joanna H Brown | Joanna H Brown | Jacqueline K. White
[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 .