Literature DB >> 32424433

Novel CLDN1 Deletion Associated with Ichthyosis, Sclerosing Cholangitis and Acquired Alopecia.

Maleha S Alsafri1, Fabienne Charbit-Henrion, Florence Lacaille, Emmanuelle Bourrat, Julie Steffann, Smail Hadj-Rabia.   

Abstract

Entities:  

Keywords:  ILVASC; ISCAA; NISCH; inherited ichthyosis; CLDN1

Mesh：

Substances：

Year:  2020        PMID： 32424433      PMCID： PMC9175039          DOI： 10.2340/00015555-3522

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN： 0001-5555            Impact factor:   3.875


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  8 in total

1.  Bile duct paucity is part of the neonatal ichthyosis-sclerosing cholangitis phenotype.

Authors:  I F Nagtzaam; M van Geel; A Driessen; P M Steijlen; M A M van Steensel
Journal:  Br J Dermatol       Date:  2010-07       Impact factor: 9.302

2.  Gene-Targeted Next-Generation Sequencing Identifies a Novel CLDN1 Mutation in a Consanguineous Family With NISCH Syndrome.

Authors:  Leila Youssefian; Hassan Vahidnezhad; Amir Hossein Saeidian; Soheila Sotoudeh; Sirous Zeinali; Jouni Uitto
Journal:  Am J Gastroenterol       Date:  2017-02       Impact factor: 10.864

3.  Novel mutation in the CLDN1 gene in a Turkish family with neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome.

Authors:  P Kirchmeier; E Sayar; A Hotz; I Hausser; A Islek; A Yilmaz; R Artan; J Fischer
Journal:  Br J Dermatol       Date:  2014-04       Impact factor: 9.302

4.  Novel CLDN1 mutation in ichthyosis-hypotrichosis-sclerosing cholangitis syndrome without signs of liver disease.

Authors:  I F Nagtzaam; V P M Peeters; M Vreeburg; A Wagner; P M Steijlen; M van Geel; M A M van Steensel
Journal:  Br J Dermatol       Date:  2018-01-23       Impact factor: 9.302

5.  Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease.

Authors:  Smail Hadj-Rabia; Lekbir Baala; Pierre Vabres; Dominique Hamel-Teillac; Emmanuel Jacquemin; Monique Fabre; Stanislas Lyonnet; Yves De Prost; Arnold Munnich; Michelle Hadchouel; Asma Smahi
Journal:  Gastroenterology       Date:  2004-11       Impact factor: 22.682

6.  Confirmation of the origin of NISCH syndrome.

Authors:  L Feldmeyer; M Huber; F Fellmann; J S Beckmann; E Frenk; D Hohl
Journal:  Hum Mutat       Date:  2006-05       Impact factor: 4.878

7.  Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28.

Authors:  Lekbir Baala; Smaïl Hadj-Rabia; Dominique Hamel-Teillac; Michelle Hadchouel; Catherine Prost; Suzanne M Leal; Emmanuel Jacquemin; Abdelaziz Sefiani; Yves De Prost; Gilles Courtois; Arnold Munnich; Stanislas Lyonnet; Pierre Vabres
Journal:  J Invest Dermatol       Date:  2002-07       Impact factor: 8.551

8.  DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis.

Authors:  Muriel Girard; Albane A Bizet; Alain Lachaux; Emmanuel Gonzales; Emilie Filhol; Sophie Collardeau-Frachon; Cécile Jeanpierre; Charline Henry; Monique Fabre; Loic Viremouneix; Louise Galmiche; Dominique Debray; Christine Bole-Feysot; Patrick Nitschke; Danièle Pariente; Catherine Guettier; Stanislas Lyonnet; Laurence Heidet; Aurelia Bertholet; Emmanuel Jacquemin; Alexandra Henrion-Caude; Sophie Saunier
Journal:  Hum Mutat       Date:  2016-08-24       Impact factor: 4.878
  8 in total

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