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Literature DB >> 16977323

The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1.

Ken Arita, Witold K Jacyk, Vesarat Wessagowit, Elizabeth Jansen van Rensburg, Tracy Chaplin, Charles A Mein, Masashi Akiyama, Hiroshi Shimizu, Rudolf Happle, John A McGrath.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2006 PMID： 16977323 DOI： 10.1038/sj.jid.5700550

Source DB: PubMed Journal: J Invest Dermatol ISSN： 0022-202X Impact factor: 8.551

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7 in total

1. Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.

Authors: Nareh V Marukian; Rong-Hua Hu; Brittany G Craiglow; Leonard M Milstone; Jing Zhou; Amy Theos; Hande Kaymakcalan; Deniz A Akkaya; Jouni J Uitto; Hassan Vahidnezhad; Leila Youssefian; Susan J Bayliss; Amy S Paller; Lynn M Boyden; Keith A Choate
Journal: JAMA Dermatol Date: 2017-06-01 Impact factor: 10.282

Review 2. Ichthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders.

Authors: Matthias Schmuth; Robert Gruber; Peter M Elias; Mary L Williams
Journal: Adv Dermatol Date: 2007

Review 3. Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.

Authors: Matthew L Herman; Sharifeh Farasat; Peter J Steinbach; Ming-Hui Wei; Ousmane Toure; Philip Fleckman; Patrick Blake; Sherri J Bale; Jorge R Toro
Journal: Hum Mutat Date: 2009-04 Impact factor: 4.878

4. Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.

Authors: S Farasat; M-H Wei; M Herman; D J Liewehr; S M Steinberg; S J Bale; P Fleckman; J R Toro
Journal: J Med Genet Date: 2008-10-23 Impact factor: 6.318

The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1.

1. Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.

Review 2. Ichthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders.

Review 3. Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.

4. Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.

5. Transglutaminase1 preferred substrate peptide K5 is an efficient tool in diagnosis of lamellar ichthyosis.

Review 6. Recent advances in understanding ichthyosis pathogenesis.

7. Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients.