169 related articles for article (PubMed ID: 8618025)
1. Linkage of monilethrix to the trichocyte and epithelial keratin gene cluster on 12q11-q13.
Stevens HP; Kelsell DP; Bryant SP; Bishop DT; Dawber RP; Spurr NK; Leigh IM
J Invest Dermatol; 1996 Apr; 106(4):795-7. PubMed ID: 8618025
[TBL] [Abstract][Full Text] [Related]
2. A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13.
Healy E; Holmes SC; Belgaid CE; Stephenson AM; Mclean WH; Rees JL; Munro CS
Hum Mol Genet; 1995 Dec; 4(12):2399-402. PubMed ID: 8634717
[TBL] [Abstract][Full Text] [Related]
3. Evidence for genetic heterogeneity in monilethrix.
Richard G; Itin P; Lin JP; Bon A; Bale SJ
J Invest Dermatol; 1996 Dec; 107(6):812-4. PubMed ID: 8941666
[TBL] [Abstract][Full Text] [Related]
4. A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix.
Winter H; Rogers MA; Gebhardt M; Wollina U; Boxall L; Chitayat D; Babul-Hirji R; Stevens HP; Zlotogorski A; Schweizer J
Hum Genet; 1997 Dec; 101(2):165-9. PubMed ID: 9402962
[TBL] [Abstract][Full Text] [Related]
5. Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix.
Winter H; Rogers MA; Langbein L; Stevens HP; Leigh IM; Labrèze C; Roul S; Taieb A; Krieg T; Schweizer J
Nat Genet; 1997 Aug; 16(4):372-4. PubMed ID: 9241275
[TBL] [Abstract][Full Text] [Related]
6. Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity.
Birch-Machin MA; Healy E; Turner R; Haldane F; Belgaid CE; Darlington S; Stephenson AM; Munro C; Messenger AG; Rees JL
Br J Dermatol; 1997 Sep; 137(3):339-43. PubMed ID: 9349326
[TBL] [Abstract][Full Text] [Related]
7. Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q.
Compton JG; DiGiovanna JJ; Santucci SK; Kearns KS; Amos CI; Abangan DL; Korge BP; McBride OW; Steinert PM; Bale SJ
Nat Genet; 1992 Jul; 1(4):301-5. PubMed ID: 1284546
[TBL] [Abstract][Full Text] [Related]
8. Mapping of epidermolysis bullosa simplex mutation to chromosome 12.
Ryynänen M; Knowlton RG; Uitto J
Am J Hum Genet; 1991 Nov; 49(5):978-84. PubMed ID: 1718160
[TBL] [Abstract][Full Text] [Related]
9. A mutational hotspot in the 2B domain of human hair basic keratin 6 (hHb6) in monilethrix patients.
Korge BP; Healy E; Munro CS; Pünter C; Birch-Machin M; Holmes SC; Darlington S; Hamm H; Messenger AG; Rees JL; Traupe H
J Invest Dermatol; 1998 Nov; 111(5):896-9. PubMed ID: 9804356
[TBL] [Abstract][Full Text] [Related]
10. Fine genetic mapping of diffuse non-epidermolytic palmoplantar keratoderma to chromosome 12q11-q13: exclusion of the mapped type II keratins.
Kelsell DP; Stevens HP; Purkis PE; Talas U; Rustin MH; Leigh IM
Exp Dermatol; 1999 Oct; 8(5):388-91. PubMed ID: 10536965
[TBL] [Abstract][Full Text] [Related]
11. The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13.
Lind L; Lundström A; Hofer PA; Holmgren G
Hum Mol Genet; 1994 Oct; 3(10):1789-93. PubMed ID: 7531539
[TBL] [Abstract][Full Text] [Related]
12. Monilethrix: mutational hotspot in the helix termination motif of the human hair basic keratin 6.
Horev L; Glaser B; Metzker A; Ben-Amitai D; Vardy D; Zlotogorski A
Hum Hered; 2000; 50(5):325-30. PubMed ID: 10878479
[TBL] [Abstract][Full Text] [Related]
13. Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). Genetic linkage to chromosome 12q in the region of the type II keratin gene cluster.
Pulkkinen L; Christiano AM; Knowlton RG; Uitto J
J Clin Invest; 1993 Jan; 91(1):357-61. PubMed ID: 7678607
[TBL] [Abstract][Full Text] [Related]
14. Linkage of the epidermolytic hyperkeratosis phenotype and the region of the type II keratin gene cluster on chromosome 12.
Bonifas JM; Bare JW; Chen MA; Lee MK; Slater CA; Goldsmith LA; Epstein EH
J Invest Dermatol; 1992 Nov; 99(5):524-7. PubMed ID: 1385543
[TBL] [Abstract][Full Text] [Related]
15. Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix.
Djabali K; Panteleyev AA; Lalin T; Garzon MC; Longley BJ; Bickers DR; Zlotogorski A; Christiano AM
Clin Exp Dermatol; 2003 Mar; 28(2):206-10. PubMed ID: 12653715
[TBL] [Abstract][Full Text] [Related]
16. Characterization of a cluster of human high/ultrahigh sulfur keratin-associated protein genes embedded in the type I keratin gene domain on chromosome 17q12-21.
Rogers MA; Langbein L; Winter H; Ehmann C; Praetzel S; Korn B; Schweizer J
J Biol Chem; 2001 Jun; 276(22):19440-51. PubMed ID: 11279113
[TBL] [Abstract][Full Text] [Related]
17. A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.
Munro CS; Carter S; Bryce S; Hall M; Rees JL; Kunkeler L; Stephenson A; Strachan T
J Med Genet; 1994 Sep; 31(9):675-8. PubMed ID: 7529318
[TBL] [Abstract][Full Text] [Related]
18. Clouston syndrome (hidrotic ectodermal dysplasia) is not linked to keratin gene clusters on chromosomes 12 and 17.
Hayflick SJ; Taylor T; McKinnon W; Guttmacher AE; Litt M; Zonana J
J Invest Dermatol; 1996 Jul; 107(1):11-4. PubMed ID: 8752831
[TBL] [Abstract][Full Text] [Related]
19. Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12-q21.
Reis A; Küster W; Eckardt R; Sperling K
Hum Genet; 1992; 90(1-2):113-6. PubMed ID: 1385292
[TBL] [Abstract][Full Text] [Related]
20. Linkage of epidermolysis bullosa simplex to keratin gene loci.
McKenna KE; Hughes AE; Bingham EA; Nevin NC
J Med Genet; 1992 Aug; 29(8):568-70. PubMed ID: 1381443
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]