Literature DB >> 11407995

Compound heterozygous TGM1 mutations including a novel missense mutation L204Q in a mild form of lamellar ichthyosis.

M Akiyama, Y Takizawa, Y Suzuki, A Ishiko, I Matsuo, H Shimizu.   

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Year:  2001        PMID： 11407995     DOI： 10.1046/j.0022-202x.2001.01367.x

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


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  4 in total

Review 1.  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

2.  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

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

Authors:  Masashi Akiyama; Kaori Sakai; Teruki Yanagi; Satoshi Fukushima; Hironobu Ihn; Kiyotaka Hitomi; Hiroshi Shimizu
Journal:  Am J Pathol       Date:  2010-02-18       Impact factor: 4.307

Review 4.  Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis.

Authors:  Daria S Chulpanova; Alisa A Shaimardanova; Aleksei S Ponomarev; Somaia Elsheikh; Albert A Rizvanov; Valeriya V Solovyeva
Journal:  Int J Mol Sci       Date:  2022-02-24       Impact factor: 5.923
  4 in total

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