Literature DB >> 17635512

Transglutaminase 1 deficiency and corneocyte collapse: an indication for targeted molecular screening in autosomal recessive congenital ichthyosis.

G Esposito, G Tadini, F Paparo, A Viola, L Ieno, W Pennacchia, F Messina, L Giordano, A Piccirillo, L Auricchio.   

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Year:  2007        PMID： 17635512     DOI： 10.1111/j.1365-2133.2007.08070.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  6 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.  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

3.  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

4.  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

5.  Spontaneous corneal perforation in a patient with lamellar ichthyosis and dry eye.

Authors:  Burak Turgut; Orhan Aydemir; Murat Kaya; Peykan Türkçüoğlu; Tamer Demir; Ulkü Celiker
Journal:  Clin Ophthalmol       Date:  2009-11-16

6.  Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients.

Authors:  Tiziana Fioretti; Luigi Auricchio; Angelo Piccirillo; Giuseppina Vitiello; Adelaide Ambrosio; Fabio Cattaneo; Rosario Ammendola; Gabriella Esposito
Journal:  Diagnostics (Basel)       Date:  2020-11-24
  6 in total

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