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Items: 1 to 20 of 109

1.

A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles.

Ayub M, Basit S, Jelani M, Ur Rehman F, Iqbal M, Yasinzai M, Ahmad W.

Am J Hum Genet. 2009 Oct;85(4):515-20. doi: 10.1016/j.ajhg.2009.08.015. Epub 2009 Sep 17.

2.

A spontaneous mutation in the desmoglein 4 gene underlies hypotrichosis in a new lanceolate hair rat model.

Meyer B, Bazzi H, Zidek V, Musilova A, Pravenec M, Kurtz TW, Nurnberg P, Christiano AM.

Differentiation. 2004 Dec;72(9-10):541-7.

PMID:
15617564
3.

[Homozygous nonsense mutations in the desmocollin-3 gene and hypotrichosis with recurrent vesicles].

Dereure O.

Ann Dermatol Venereol. 2010 Jun-Jul;137(6-7):495. doi: 10.1016/j.annder.2010.03.016. Epub 2010 Apr 22. French. No abstract available.

PMID:
20620585
4.

Genetic mapping of a novel hypotrichosis locus to chromosome 7p21.3-p22.3 in a Pakistani family and screening of the candidate genes.

Basit S, Ali G, Wasif N, Ansar M, Ahmad W.

Hum Genet. 2010 Aug;128(2):213-20. doi: 10.1007/s00439-010-0847-y. Epub 2010 Jun 11.

PMID:
20544222
5.

Desmosomal genodermatoses.

Petrof G, Mellerio JE, McGrath JA.

Br J Dermatol. 2012 Jan;166(1):36-45. doi: 10.1111/j.1365-2133.2011.10640.x. Review.

PMID:
21929534
6.

Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation.

Petukhova L, Sousa EC Jr, Martinez-Mir A, Vitebsky A, Dos Santos LG, Shapiro L, Haynes C, Gordon D, Shimomura Y, Christiano AM.

Genomics. 2008 Nov;92(5):273-8. doi: 10.1016/j.ygeno.2008.06.009. Epub 2008 Sep 13.

7.

A locus for hereditary hypotrichosis localized to human chromosome 18q21.1.

Rafique MA, Ansar M, Jamal SM, Malik S, Sohail M, Faiyaz-Ul-Haque M, Haque S, Leal SM, Ahmad W.

Eur J Hum Genet. 2003 Aug;11(8):623-8.

8.

Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11-q21.32.

Wali A, Chishti M, Ayub M, Yasinzai M, Kafaitullah, Ali G, John P, Ahmad W.

Clin Genet. 2007 Jul;72(1):23-9.

PMID:
17594396
9.

Antisense expression of a desmocollin gene in MDCK cells alters desmosome plaque assembly but does not affect desmoglein expression.

Roberts GA, Burdett ID, Pidsley SC, King IA, Magee AI, Buxton RS.

Eur J Cell Biol. 1998 Jul;76(3):192-203.

PMID:
9716266
10.

Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees.

Basit S, Wali A, Aziz A, Muhammad N, Jelani M, Ahmad W.

Clin Genet. 2011 Mar;79(3):273-81. doi: 10.1111/j.1399-0004.2010.01455.x.

PMID:
20528890
11.

A YAC contig joining the desmocollin and desmoglein loci on human chromosome 18 and ordering of the desmocollin genes.

Cowley CM, Simrak D, Marsden MD, King IA, Arnemann J, Buxton RS.

Genomics. 1997 Jun 1;42(2):208-16.

PMID:
9192840
12.

Genomic organization and amplification of the human desmosomal cadherin genes DSC1 and DSC3, encoding desmocollin types 1 and 3.

Whittock NV, Hunt DM, Rickman L, Malhi S, Vogazianou AP, Dawson LF, Eady RA, Buxton RS, McGrath JA.

Biochem Biophys Res Commun. 2000 Sep 24;276(2):454-60.

PMID:
11027496
13.

[The significance of desmosomes in pathology].

Ciocoiu M, Bădescu M.

Rev Med Chir Soc Med Nat Iasi. 1999 Jul-Dec;103(3-4):57-62. Review. Romanian.

PMID:
10756926
14.

Mapping of a novel autosomal recessive hypotrichosis locus on chromosome 10q11.23–22.3.

Naz G, Ali G, Naqvi SK, Azeem Z, Ahmad W.

Hum Genet. 2010 Apr;127(4):395-401. doi: 10.1007/s00439-009-0784-9.

PMID:
20054564
15.

Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats.

Bazzi H, Martinez-Mir A, Kljuic A, Christiano AM.

J Investig Dermatol Symp Proc. 2005 Dec;10(3):222-4.

16.

Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan.

Khan S, Habib R, Mir H, Umm-e-Kalsoom, Naz G, Ayub M, Shafique S, Yamin T, Ali N, Basit S, Wasif N, Kamran-Ul-Hassan Naqvi S, Ali G, Wali A, Ansar M, Ahmad W.

Clin Exp Dermatol. 2011 Aug;36(6):652-4. doi: 10.1111/j.1365-2230.2011.04014.x. Epub 2011 Mar 21.

PMID:
21426374
17.

Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris.

Kljuic A, Bazzi H, Sundberg JP, Martinez-Mir A, O'Shaughnessy R, Mahoney MG, Levy M, Montagutelli X, Ahmad W, Aita VM, Gordon D, Uitto J, Whiting D, Ott J, Fischer S, Gilliam TC, Jahoda CA, Morris RJ, Panteleyev AA, Nguyen VT, Christiano AM.

Cell. 2003 Apr 18;113(2):249-60.

18.

Mouse desmocollin (Dsc3) and desmoglein (Dsg1) genes are closely linked in the proximal region of chromosome 18.

Buxton RS, Wheeler GN, Pidsley SC, Marsden MD, Adams MJ, Jenkins NA, Gilbert DJ, Copeland NG.

Genomics. 1994 Jun;21(3):510-6.

PMID:
7959727
19.

An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family.

Baumer A, Belli S, Trüeb RM, Schinzel A.

Eur J Hum Genet. 2000 Jun;8(6):443-8.

20.

Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.

Simpson MA, Mansour S, Ahnood D, Kalidas K, Patton MA, McKenna WJ, Behr ER, Crosby AH.

Cardiology. 2009;113(1):28-34. doi: 10.1159/000165696. Epub 2008 Oct 29.

PMID:
18957847
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