Hailey- Hailey Disease.com
|
Hailey- Hailey Disease.com
|
|
|
Due to the large amount of scientific literature, links are given that will
direct you to PubMed where you can read the abstracts and either view or order
the full article. References are given from ~1990 to 2011.
Biochem Biophys Res Commun. 2011 Mar 18;406(3):420-2. Epub 2011 Feb 15. A novel missense mutation of the ATP2C1 gene in a Chinese patient with Hailey-Hailey disease. Cheng Y, Cheng YM, Zhao G, Jia MC. J Eur Acad Dermatol Venereol. 2010 Oct;24(10):1202-6. doi: 10.1111/j.1468-3083.2010.03623.x. *Heterogeneous mutations of the ATP2C1 gene causing Hailey-Hailey disease in Hong Kong Chinese. Cheng TS, Ho KM, Lam CW. *A novel mutation in the ATP2C1 gene is associated with Hailey-Hailey disease in a Chinese family. Liu JZ, Yang T, Li X, Liu M, Wang QK, Liu JY. J Eur Acad Dermatol Venereol. 2008 Sep;22(9):1145-6. Epub 2008 Feb 4. No abstract available. *Hailey-Hailey disease: a novel mutation of the ATP2C1 gene in a Taiwanese family with divergent clinical presentation. Wang CC, Chao SC, Tsai TH. J Eur Acad Dermatol Venereol. 2008 Feb;22(2):253-4. No abstract available. *A novel deletion mutation of the ATP2C1 gene in Chinese patients with Hailey-Hailey disease. Li XL, Peng ZH, Xiao SX, Wang ZH, Liu Y, Pan M, Zhou SN, Luo SJ. Br J Dermatol. 2008 Apr;158(4):831-3. Epub 2008 Jan 17. No abstract available. *Three novel ATP2C1 mutations in Chinese patients with Hailey-Hailey disease. Zhang ZZ, Liang YH, Quan C, Gao M, Xiao FL, Yang S, Zhang XJ, Zhou FS, Li W, Fang QY, Shen YJ, Du WH, Mu YZ, Sui WC, Zhou L. Dermatology. 2007;215(4):277-83. *Eight novel mutations of ATP2C1 identified in 17 Chinese families with Hailey-Hailey disease. Zhang F, Yan X, Jiang D, Tian H, Wang C, Yu L. Arch Dermatol Res. 2007 Jul;299(4):209-11. Epub 2007 May 15. *Two novel mutations of the ATP2C1 gene in Chinese patients with Hailey-Hailey disease. Li X, Xiao S, Peng Z, Liu Y, Wang J, Zhou X. Clin Exp Dermatol. 2006 Sep;31(5):702-5. *Mutations in the ATP2C1 gene in Chinese patients with Hailey-Hailey disease. Zhang XQ, Wu HZ, Li BX, Xu YS, Wu JB, Lin LL, Yang Y, Li ZM, Lin XH, Zhang QY. Dermatology. 2006;212(2):194-7. *Novel mutation in ATP2C1 gene in a Japanese patient with Hailey-Hailey disease. Ohtsuka T, Okita H, Hama N, Yamazaki S. J Invest Dermatol. 2005 Nov;125(5):933-5. *ATP2C1 gene mutation analysis in Italian patients with Hailey-Hailey disease. Majore S, Biolcati G, Barboni L, Cannistraci C, Binni F, Crisi A, Picardo M, Grammatico P. Clin Exp Dermatol. 2005 Sep;30(5):575-7. *Novel mutations in the ATP2C1 gene in two patients with Hailey-Hailey disease. Rácz E, Csikós M, Kárpáti S. Dermatology. 2005;210(3):182-3. No abstract available. *'Atypical' cases of hailey-hailey disease may represent typical examples of a type 2 segmental manifestation. Bittar M, Happle R.
J
Clin Invest. 2004 Nov;114(10):1467-74.
*Allelic
loss underlies type 2 segmental Hailey-Hailey disease, providing molecular
confirmation of a novel genetic concept. J
Invest Dermatol. 2004 Jul;123(1):67-71.
*Hailey-Hailey
disease: identification of novel mutations in ATP2C1 and effect of missense
mutation A528P on protein expression levels. J
Am Acad Dermatol. 2003 Oct;49(4):712-4. Type
1 segmental manifestation of Hailey-Hailey disease. Br
J Dermatol. 2003 Sep;149(3):471-4.
*Four
novel mutations in ATP2C1 found in Chinese patients with Hailey-Hailey disease. [Disseminated
M. Hailey-Hailey] Br
J Dermatol. 2002 Apr;146(4):595-600.
*Mutation
analysis of ATP2C1 gene in Taiwanese patients with Hailey-Hailey disease. J
Invest Dermatol. 2002 Mar;118(3):550-1.
*Analysis
of ATP2C1 gene mutation in 10 unrelated Japanese families with Hailey-Hailey
disease. J
Invest Dermatol. 2002 Feb;118(2):338-43.
*Hailey-Hailey
disease: molecular and clinical characterization of novel mutations in the
ATP2C1 gene. J
Invest Dermatol. 2001 Dec;117(6):1654-6.
*Mutations
of ATP2C1 in Japanese patients with Hailey-Hailey disease: intrafamilial and
interfamilial phenotype variations and lack of correlation with mutation
patterns. DNA
Cell Biol. 2001 Jan;20(1):41-52.
*Cloning
and characterization of human WDR10, a novel gene located at 3q21 encoding a
WD-repeat protein that is highly expressed in pituitary and testis. Genomics.
1995 Nov 1;30(1):77-80. Narrowing
of the Hailey-Hailey disease gene region on chromosome 3q and identification of
one kindred with a deletion in this region. J
Invest Dermatol. 1995 Sep;105(3):357-60.
*Hailey-Hailey
disease maps to a 5 cM interval on chromosome 3q21-q24. Hum
Mol Genet. 1994 Jul;3(7):1147-50. Localization
of the gene whose mutations underlie Hailey-Hailey disease to chromosome 3q. J
Invest Dermatol. 1994 Jun;102(6):992-3.
*Hailey-Hailey
disease is not allelic to Darier's disease. |
Send email to:
|
