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Literature DB >> 28154377

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

Leila Youssefian^1,2, Hassan Vahidnezhad^1,3, Amir Hossein Saeidian¹, Soheila Sotoudeh⁴, Sirous Zeinali^3,5, Jouni Uitto¹.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2017 PMID： 28154377 DOI： 10.1038/ajg.2016.533

Source DB: PubMed Journal: Am J Gastroenterol ISSN： 0002-9270 Impact factor: 10.864

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10 in total

1. 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

2. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.

Authors: C Lefèvre; F Jobard; F Caux; B Bouadjar; A Karaduman; R Heilig; H Lakhdar; A Wollenberg; J L Verret; J Weissenbach; M Ozgüc; M Lathrop; J F Prud'homme; J Fischer
Journal: Am J Hum Genet Date: 2001-10-02 Impact factor: 11.025

3. The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.

Authors: Judith Fischer; Caroline Lefèvre; Eva Morava; Jean-Marie Mussini; Pascal Laforêt; Anne Negre-Salvayre; Mark Lathrop; Robert Salvayre
Journal: Nat Genet Date: 2006-12-24 Impact factor: 38.330

Review 4. Primary sclerosing cholangitis: overview and update.

Authors: Flavia Mendes; Keith D Lindor
Journal: Nat Rev Gastroenterol Hepatol Date: 2010-10-12 Impact factor: 46.802

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. Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.

Authors: Paul Gissen; Colin A Johnson; Neil V Morgan; Janneke M Stapelbroek; Tim Forshew; Wendy N Cooper; Patrick J McKiernan; Leo W J Klomp; Andrew A M Morris; James E Wraith; Patricia McClean; Sally A Lynch; Richard J Thompson; Bryan Lo; Oliver W Quarrell; Maja Di Rocco; Richard C Trembath; Hanna Mandel; S Wali; Fiona E Karet; A S Knisely; Roderick H J Houwen; Deirdre A Kelly; Eamonn R Maher
Journal: Nat Genet Date: 2004-03-28 Impact factor: 38.330

9. 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

10. Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord.

Authors: Alexandre Montpetit; Stéphanie Côté; Edna Brustein; Christian A Drouin; Line Lapointe; Michèle Boudreau; Caroline Meloche; Régen Drouin; Thomas J Hudson; Pierre Drapeau; Patrick Cossette
Journal: PLoS Genet Date: 2008-12-05 Impact factor: 5.917