Literature DB >> 12207612

Genetic syndrome with ichthyosis: congenital ichthyosis, follicular atrophoderma, hypotrichosis, and woolly hair; second report.

U Tursen, T I Kaya, G Ikizoglu, M Aktekin, N Aras.   

Abstract

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Year:  2002        PMID： 12207612     DOI： 10.1046/j.1365-2133.2002.48461.x

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


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  3 in total

1.  Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase.

Authors:  Lina Basel-Vanagaite; Revital Attia; Akemi Ishida-Yamamoto; Limor Rainshtein; Dan Ben Amitai; Raziel Lurie; Metsada Pasmanik-Chor; Margarita Indelman; Alex Zvulunov; Shirley Saban; Nurit Magal; Eli Sprecher; Mordechai Shohat
Journal:  Am J Hum Genet       Date:  2007-01-23       Impact factor: 11.025

2.  Loss of matriptase suppression underlies spint1 mutation-associated ichthyosis and postnatal lethality.

Authors:  Roman Szabo; Peter Kosa; Karin List; Thomas H Bugge
Journal:  Am J Pathol       Date:  2009-04-23       Impact factor: 4.307

3.  A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome.

Authors:  Leila Youssefian; Andrew Touati; Amir Hossein Saeidian; Omid Zargari; Sirous Zeinali; Hassan Vahidnezhad; Jouni Uitto
Journal:  Orphanet J Rare Dis       Date:  2017-12-06       Impact factor: 4.123
  3 in total

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