Rom J Morphol Embryol. 2007;48(4):423-6. Buteică E, Burada F, Stoicescu I, Stănoiu B, Georgescu CV. Source Department of Genetics, University of Medicine and Pharmacy of Craiova, Romania. buteicaelena@yahoo.com Abstract Darier disease (DD) and Hailey-Hailey disease (HHD) are autosomal dominantly inherited genodermatosis, caused by mutations in ATP2A2 gene…
Skinmed. 2006 Sep-Oct;5(5):250-2. McKibben J, Smalling C. Source Naval Hospital, Beaufort, SC, USA. jmmckibben@beaufort.med.navy.mil Abstract An 18-year-old white man with a “rash” on his forehead, neck, and upper part of the back for more than 5 years presented to the dermatology clinic…
Indian J Dermatol Venereol Leprol. 2005 Sep-Oct;71(5):351-3. Arora S, Arora G, Ranjan P. Source Department of Dermatology, Base Hospital, Delhi Cantt-110 010, India. sarora@vsnl.com Abstract Linear acantholytic dermatoses are a spectrum of cutaneous disorders that form a subset of linear dermatoses with distinct…
Clin Exp Dermatol. 2002 Jun;27(4):290-2. Chave TA, Milligan A. Source Department of Dermatology, Leicester Royal Infirmary, Leicester LE1 5WW, UK. toby@chave.fsbusiness.co.uk Abstract A patient with extensive histologically proven Hailey-Hailey disease is described whose initial clinical presentation was suggestive of erythema multiforme or toxic epidermal…
J Am Acad Dermatol. 1992 Jun;26(6):951-5. Langenberg A, Berger TG, Cardelli M, Rodman OG, Estes S, Barron DR. Source Department of Dermatology, University of California, San Francisco. Abstract BACKGROUND: Genital lesion sof benign chronic pemphigus (FBCP)(Hailey-Hailey disease) may present as verrucous papules. Genital warts and papular acantholytic…
Br J Dermatol. 1992 Mar;126(3):275-82. Burge SM. Source Department of Dermatology, Slade Hospital, Oxford, U.K. Abstract Fifty-eight individuals with Hailey-Hailey disease were studied to delineate the clinical features, response to treatment and prognosis. The disease generally presented between the second and fourth decades,…
Br J Dermatol. 1991 Apr;124(4):329-32. Burge SM, Millard PR, Wojnarowska F. Source Department of Dermatology, Slade Hospital, Oxford, U.K. Abstract Suction has been used to investigate cell adhesion in clinically normal skin in Hailey-Hailey disease. We have demonstrated that there is a widespread subclinical abnormality…
*604384 ATPase, Ca(2+)-TRANSPORTING, TYPE 2C, MEMBER 1; ATP2C1 Alternative titles; symbols ATPase, Ca(2+)-SEQUESTERING SECRETORY PATHWAY Ca(2+) ATPase 1; SPCA1 PMR1, RAT, HOMOLOG OF HGNC Approved Gene Symbol: ATP2C1 Cytogenetic location: 3q22.1 Genomic coordinates (GRCh37): 3:130,569,368 – 130,735,555 (from NCBI) Gene Phenotype Relationships Location Phenotype…
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Biofactors. 2011 May-Jun;37(3):150-8. doi: 10.1002 Epub 2011 Jun 14. Shull GE, Miller ML, Prasad V. Source Department of Molecular Genetics, Biochemistry and Microbiology, University of Cincinnati, College of Medicine, OH, USA. shullge@ucmail.uc.edu Abstract In mammalian tissues, uptake of Ca(2+) and Mn(2+) by Golgi…
Cold Spring Harb Perspect Biol. 2011 May 1;3(5). pii: a004184. doi: 10.1101 Vandecaetsbeek I, Vangheluwe P, Raeymaekers L, Wuytack F, Vanoevelen J. Source Laboratory of Ca-transport ATPases, Department of Molecular Cell Biology, K.U. Leuven, Leuven, Belgium. Abstract The various splice variants of the three SERCA-…
J Invest Dermatol. 2009 Jun;129(6):1379-87. doi: 10.1038 Epub 2008 Dec 4. Leinonen PT, Hägg PM, Peltonen S, Jouhilahti EM, Melkko J, Korkiamäki T, Oikarinen A, Peltonen J. Source Department of Anatomy and Cell Biology, Institute of Biomedicine, University of Oulu, Oulu, Finland. pekka.t.leinonen@oulu.fi Abstract Electron probe microanalysis was…
J Invest Dermatol. 2007 Aug;127(8):1973-9. Epub 2007 Mar 29. Aberg KM, Racz E, Behne MJ, Mauro TM. Source Department of Dermatology, University of California, San Francisco, California, USA. Abstract Hailey-Hailey disease (HHD) (MIM 16960) is an autosomal-dominant blistering skin disease caused by a mutation in…
J Invest Dermatol. 2006 Nov;126(11):2370-6. Epub 2006 Jun 22. Szigeti R, Kellermayer R. Source 1Department of Dermatology, University of Pécs, Pécs, Hungary. Abstract Darier disease (DD) and Hailey-Hailey disease (HHD) are the only known autosomal-dominant Ca2+ ATPase disorders. Epidermal symptoms selectively occur in the…
J Biol Chem. 2005 Mar 11;280(10):9467-73. Epub 2004 Dec 28. Ramos-Castañeda J, Park YN, Liu M, Hauser K, Rudolph H, Shull GE, Jonkman MF, Mori K, Ikeda S, Ogawa H, Arvan P. Source Division of Metabolism, Endocrinology, and Diabetes, University of Michigan Medical School, Ann Arbor Michigan 48109, USA. Abstract Relatively…
Biochim Biophys Acta. 2004 Dec 6;1742(1-3):103-12. Van Baelen K, Dode L, Vanoevelen J, Callewaert G, De Smedt H, Missiaen L, Parys JB, Raeymaekers L, Wuytack F. Source Laboratorium voor Fysiologie, K.U. Leuven Campus Gasthuisberg O/N, Herestraat 49, B-3000, Leuven, Belgium. Abstract Recent evidence highlights the functional importance of the…
Am J Med Genet C Semin Med Genet. 2004 Nov 15;131C(1):20-31. Foggia L, Hovnanian A. Source Department of Medical Genetics, Pavillon Lefebvre, Purpan Hospital, Place du Dr Baylac, Toulouse cedex 03, France. Abstract The causes of Darier disease (DD) and Hailey-Hailey disease…
Biochem Biophys Res Commun. 2004 Oct 1;322(4):1204-13. Missiaen L, Raeymaekers L, Dode L, Vanoevelen J, Van Baelen K, Parys JB, Callewaert G, De Smedt H, Segaert S, Wuytack F. Source Laboratorium voor Fysiologie, K.U.Leuven Campus Gasthuisberg, Herestraat 49, B-3000 Leuven, Belgium. Abstract Both the endoplasmic reticulum and the Golgi apparatus…
Am J Physiol Cell Physiol. 2004 Sep;287(3):C580-9. Ton VK, Rao R. Source Dept. of Physiology, The Johns Hopkins University School of Medicine, 725 N. Wolfe St., Baltimore, MD 21205, USA. Abstract The baker’s yeast Saccharomyces cerevisiae is a well-developed, versatile, and widely…
Br J Dermatol. 2004 May;150(5):821-8. Dhitavat J, Fairclough RJ, Hovnanian A, Burge SM. Source INSERM U563, Purpan Hospital, Place du Dr Baylac, 31059 Toulouse cedex 03, France. Abstract Darier’s disease and Hailey-Hailey disease are autosomal dominantly inherited skin disorders in which desmosomal adhesion between…
J Invest Dermatol. 2003 Oct;121(4):688-94. Behne MJ, Tu CL, Aronchik I, Epstein E, Bench G, Bikle DD, Pozzan T, Mauro TM. Source Department of Dermatology, University of California, San Francisco, California, USA. behnemj@itsa.ucsf.edu Abstract Hailey-Hailey disease (MIM16960) is a blistering skin disease caused by mutations in the Ca2+…
J Invest Dermatol. 2003 Oct;121(4):681-7. Aronchik I, Behne MJ, Leypoldt L, Crumrine D, Epstein E, Ikeda S, Mizoguchi M, Bench G, Pozzan T, Mauro T. Source Department of Dermatology, University of California, San Francisco, California, USA. Abstract Actin reorganization and the formation of adherens junctions are necessary for normal cell-to-cell…
Cell Calcium. 2003 Aug;34(2):157-62. Callewaert G, Parys JB, De Smedt H, Raeymaekers L, Wuytack F, Vanoevelen J, Van Baelen K, Simoni A, Rizzuto R, Missiaen L. Source Laboratorium voor Fysiologie, K U Leuven Campus Gasthuisberg O/N, Herestraat 49, 3000 Leuven, Belgium. Abstract Mutations in the ubiquitously expressed secretory-pathway Ca(2+)-ATPase (SPCA1)…
J Biol Chem. 2003 Jul 4;278(27):24721-30. Epub 2003 Apr 21. Fairclough RJ, Dode L, Vanoevelen J, Andersen JP, Missiaen L, Raeymaekers L, Wuytack F, Hovnanian A. Source Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Dr., United Kingdom. Abstract ATP2C1, encoding the human secretory pathway Ca2+/Mn2+…
Pflugers Arch. 2003 May;446(2):148-53. Epub 2003 Feb 15. Wuytack F, Raeymaekers L, Missiaen L. Source Laboratorium voor Fysiologie, K.U. Leuven Campus Gasthuisberg, Herestraat 49, 3000, Leuven, Belgium. frank.wuytack@med.kuleuven.ac.be Abstract Besides the well-known sarco/endoplasmic-reticulum Ca(2+)-transport ATPases (SERCA), animal cells contain a much less characterized…
Ann N Y Acad Sci. 2003 Apr;986:453-60. Shull GE, Okunade G, Liu LH, Kozel P, Periasamy M, Lorenz JN, Prasad V. Source Department of Molecular Genetics, Biochemistry, and Microbiology, University of Cincinnati College of Medicine, Ohio 45267, USA. shullge@ucmail.uc.edu Abstract It is known that plasma membrane Ca(2+)-transporting…
J Biol Chem. 2002 Feb 22;277(8):6422-7. Epub 2001 Dec 6. Ton VK, Mandal D, Vahadji C, Rao R. Source Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA. Abstract The discovery and biochemical characterization of the secretory pathway Ca(2+)-ATPase, PMR1,…
J Cutan Pathol. 2001 Jul;28(6):277-81. Hakuno M, Akiyama M, Shimizu H, Wheelock MJ, Nishikawa T. Source Department of Dermatology, Keio University School of Medicine, Tokyo, Japan. MegHakuno@aol.com Abstract BACKGROUND: Autoimmune blistering diseases, pemphigus vulgaris (PV) and pemphigus foliaceus (PF), are known to be caused by…
J Biol Chem. 2001 Apr 6;276(14):10683-91. Epub 2000 Dec 29. Van Baelen K, Vanoevelen J, Missiaen L, Raeymaekers L, Wuytack F. Source Laboratory of Physiology, K.U. Leuven, Campus Gasthuisberg, Herestraat 49, B-3000 Leuven Belgium. Kurt.Vanbaelen@med.kuleuven.ac.be Abstract In recent years, it has been well established that…
Cell Calcium. 2000 Jul;28(1):1-21. Missiaen L, Robberecht W, van den Bosch L, Callewaert G, Parys JB, Wuytack F, Raeymaekers L, Nilius B, Eggermont J, De Smedt H. Source Laboratory of Physiology, K.U.Leuven Campus Gasthuisberg O/N, Leuven, Belgium. Ludwig.Missiaen@med.kuleven.ac.be Abstract A whole range of cell functions are regulated by the free…
Hum Mol Genet. 2000 Apr 12;9(7):1131-40. 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. Source Max-Planck-Institut für Molekulare Genetik, D-14195 Berlin, Germany. Abstract Hailey-Hailey disease (HHD) is an autosomal dominant skin disorder…
Nat Genet. 2000 Jan;24(1):61-5. Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, Ikeda S, Mauro T, Epstein EH Jr. Source Department of Dermatology, San Francisco General Hospital, University of California at San Francisco, San Francisco, California, USA. Abstract Hailey-Hailey disease (HHD, MIM 16960) is inherited…
Br J Dermatol. 1999 Aug;141(2):224-30. Haftek M, Kowalewski C, Mesnil M, Blaszczyk M, Schmitt D. Source INSERM U.346/CNRS ‘Human Skin and Immunity’, Hôpital E.Herriot, 69437 Lyon cedex 03, France. marek.haftek@lyon151.inserm.fr Abstract Hereditary skin disorders involving acantholysis, such as Hailey-Hailey disease and Darier’s disease, have been…
Completing the jigsaw puzzle: an important piece is in place. (Aug 2000) What causes Hailey-Hailey disease? The condition is caused by a change (mutation) in a gene on chromosome 3. Now researchers in the UK and USA have discovered that…
Hailey-Hailey disease (HHD) is a rare autosomal dominant genodermatosis characterized by disturbed keratinocyte adhesion. OK, in English, sufferers of HHD have a problem with ‘keratinocyte adhesion.’ Keratinocytes are the cells that make up the skin and in HHD patients one of the thousands of genes…
If you or a loved one have HHD, we welcome you to join our Support Group. TalkHHD began in 2003 after the haileyhaileydisease.com email listserve was disbanded. We are now located on a totally ad-free group website, groups.io. Generous members…
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