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Results: 1 to 20 of 176

1.

A missense mutation in the type II hair keratin hHb3 is associated with monilethrix.

van Steensel MA, Steijlen PM, Bladergroen RS, Vermeer M, van Geel M.

J Med Genet. 2005 Mar;42(3):e19. No abstract available.

PMID:
15744029
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.

Celep F, Uzumcu A, Sonmez FM, Uyguner O, Balci YI, Bahadir S, Karaguzel A.

Genet Couns. 2009;20(1):1-8.

PMID:
19400537
[PubMed - indexed for MEDLINE]
3.

De novo mutations in monilethrix.

Horev L, Djabali K, Green J, Sinclair R, Martinez-Mir A, Ingber A, Christiano AM, Zlotogorski A.

Exp Dermatol. 2003 Dec;12(6):882-5.

PMID:
14714571
[PubMed - indexed for MEDLINE]
4.

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.

PMID:
12653715
[PubMed - indexed for MEDLINE]
5.

A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance.

De Cruz R, Horev L, Green J, Babay S, Sladden M, Zlotogorski A, Sinclair R.

Br J Dermatol. 2012 Jun;166 Suppl 2:20-6. doi: 10.1111/j.1365-2133.2012.10861.x.

PMID:
22670615
[PubMed - indexed for MEDLINE]
6.

Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis.

Shimomura Y, Sakamoto F, Kariya N, Matsunaga K, Ito M.

J Invest Dermatol. 2006 Jun;126(6):1281-5.

PMID:
16439973
[PubMed - indexed for MEDLINE]
Free Article
7.

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.

PMID:
9241275
[PubMed - indexed for MEDLINE]
8.

Point mutation in the helix termination peptide (HTP) of human type II hair keratin hHb6 causes monilethrix in five families.

Korge BP, Healy E, Traupe H, Pünter C, Mauch C, Hamm H, Birch-Machin MA, Belgaid CE, Stephenson AM, Holmes SC, Darlington S, Messenger AG, Rees JL, Munro CS.

Exp Dermatol. 1999 Aug;8(4):310-2. No abstract available.

PMID:
10439241
[PubMed - indexed for MEDLINE]
9.

Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix.

Pearce EG, Smith SK, Lanigan SW, Bowden PE.

J Invest Dermatol. 1999 Dec;113(6):1123-7.

PMID:
10594761
[PubMed - indexed for MEDLINE]
Free Article
10.

Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype.

Korge BP, Hamm H, Jury CS, Traupe H, Irvine AD, Healy E, Birch-MacHin M, Rees JL, Messenger AG, Holmes SC, Parry DA, Munro CS.

J Invest Dermatol. 1999 Oct;113(4):607-12.

PMID:
10504448
[PubMed - indexed for MEDLINE]
Free Article
11.

A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHb1.

Winter H, Labrèze C, Chapalain V, Surlève-Bazeille JE, Mercier M, Rogers MA, Taieb A, Schweizer J.

J Invest Dermatol. 1998 Jul;111(1):169-72.

PMID:
9665406
[PubMed - indexed for MEDLINE]
12.

Monilethrix: a novel mutation (Glu402Lys) in the helix termination motif and the first causative mutation (Asn114Asp) in the helix initiation motif of the type II hair keratin hHb6.

Winter H, Clark RD, Tarras-Wahlberg C, Rogers MA, Schweizer J.

J Invest Dermatol. 1999 Aug;113(2):263-6.

PMID:
10469314
[PubMed - indexed for MEDLINE]
Free Article
13.

Monilethrix: a keratin hHb6 mutation is co-dominant with variable expression.

Zlotogorski A, Horev L, Glaser B.

Exp Dermatol. 1998 Oct;7(5):268-72.

PMID:
9832314
[PubMed - indexed for MEDLINE]
14.

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.

PMID:
9402962
[PubMed - indexed for MEDLINE]
15.

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. Review.

PMID:
9804356
[PubMed - indexed for MEDLINE]
16.

The catalog of human hair keratins. II. Expression of the six type II members in the hair follicle and the combined catalog of human type I and II keratins.

Langbein L, Rogers MA, Winter H, Praetzel S, Schweizer J.

J Biol Chem. 2001 Sep 14;276(37):35123-32. Epub 2001 Jul 9.

PMID:
11445569
[PubMed - indexed for MEDLINE]
Free Article
17.

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.

PMID:
8618025
[PubMed - indexed for MEDLINE]
18.

Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix.

Ye ZZ, Nan X, Zhao HS, Chen XR, Song QH.

Chin Med J (Engl). 2013 Aug;126(16):3103-6.

PMID:
23981620
[PubMed - indexed for MEDLINE]
Free Article
19.

A novel missense mutation, A118E, in the helix initiation motif of the type II hair cortex keratin hHb6, causing monilethrix.

Winter H, Vabres P, Larrègue M, Rogers MA, Schweizer J.

Hum Hered. 2000 Sep-Oct;50(5):322-4. No abstract available.

PMID:
10878478
[PubMed - indexed for MEDLINE]
Free Article
20.

Hair follicle-specific keratins and their diseases.

Schweizer J, Langbein L, Rogers MA, Winter H.

Exp Cell Res. 2007 Jun 10;313(10):2010-20. Epub 2007 Mar 14. Review.

PMID:
17428470
[PubMed - indexed for MEDLINE]

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