Literature DB >> 31633189

Identification of Mutations in SDR9C7 in Three Patients with Autosomal Recessive Congenital Ichthyosis.

Juliette Mazereeuw-Hautier1, Maella Severino-Freire, Véronique Gaston, Hélène Texier, Marie Vincent, Hélène Aubert, Fanny Morice-Picard, Nathalie Jonca.   

Abstract

Entities:  

Keywords:  SDR9C7 mutations; autosomal recessive congenital ichthyosis; ARCI

Mesh：

Substances：

Year:  2020        PMID： 31633189      PMCID： PMC9129004          DOI： 10.2340/00015555-3359

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


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  13 in total

1.  Chronic dermatophytosis in lamellar ichthyosis: relevance of a T-helper 2-type immune response to Trichophyton rubrum.

Authors:  R J Ludwig; J A Woodfolk; M Grundmann-Kollmann; R Enzensberger; U Runne; T A Platts-Mills; R Kaufmann; T M Zollner
Journal:  Br J Dermatol       Date:  2001-09       Impact factor: 9.302

Review 2.  Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

Authors:  Vinzenz Oji; Gianluca Tadini; Masashi Akiyama; Claudine Blanchet Bardon; Christine Bodemer; Emmanuelle Bourrat; Philippe Coudiere; John J DiGiovanna; Peter Elias; Judith Fischer; Philip Fleckman; Michal Gina; John Harper; Takashi Hashimoto; Ingrid Hausser; Hans Christian Hennies; Daniel Hohl; Alain Hovnanian; Akemi Ishida-Yamamoto; Witold K Jacyk; Sancy Leachman; Irene Leigh; Juliette Mazereeuw-Hautier; Leonard Milstone; Fanny Morice-Picard; Amy S Paller; Gabriele Richard; Matthias Schmuth; Hiroshi Shimizu; Eli Sprecher; Maurice Van Steensel; Alain Taïeb; Jorge R Toro; Pierre Vabres; Anders Vahlquist; Mary Williams; Heiko Traupe
Journal:  J Am Acad Dermatol       Date:  2010-10       Impact factor: 11.527

3.  Identification of a novel locus associated with congenital recessive ichthyosis on 12p11.2-q13.

Authors:  Mordechai Mizrachi-Koren; Dan Geiger; Margarita Indelman; Ora Bitterman-Deutsch; Reuven Bergman; Eli Sprecher
Journal:  J Invest Dermatol       Date:  2005-09       Impact factor: 8.551

4.  Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families.

Authors:  Leila Youssefian; Hassan Vahidnezhad; Amir Hossein Saeidian; Andrew Touati; Soheila Sotoudeh; Hamidreza Mahmoudi; Parvin Mansouri; Maryam Daneshpazhooh; Nessa Aghazadeh; Kambiz Kamyab Hesari; Mohammadreza Basiri; Eric Londin; Gaurav Kumar; Sirous Zeinali; Paolo Fortina; Jouni Uitto
Journal:  Hum Mutat       Date:  2019-01-16       Impact factor: 4.878

5.  Impaired epidermal barrier in autosomal recessive congenital ichthyosis (ARCI) caused by missense mutations in SDR9C7 in two Austrian sisters.

Authors:  Magdalena Seidl-Philipp; Anna Sarah Schossig; Verena Moosbrugger-Martinz; Johannes Zschocke; Matthias Schmuth; Robert Gruber
Journal:  J Dtsch Dermatol Ges       Date:  2019-04-23       Impact factor: 5.584

6.  ARCI7 Revisited and Repositioned.

Authors:  Janan Mohamad; Natalya Malchin; Stavit Shalev; Ofer Sarig; Eli Sprecher
Journal:  J Invest Dermatol       Date:  2016-12-21       Impact factor: 8.551

7.  Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis.

Authors:  A Hotz; C Fagerberg; A Vahlquist; A Bygum; H Törmä; M-A Rauschendorf; H Zhang; L Heinz; E Bourrat; I Hausser; V Vestergaard; A Dragomir; A D Zimmer; J Fischer
Journal:  Br J Dermatol       Date:  2018-01-21       Impact factor: 9.302

8.  PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier.

Authors:  Mélanie Pichery; Anne Huchenq; Roger Sandhoff; Maella Severino-Freire; Sarra Zaafouri; Lukáš Opálka; Thierry Levade; Vanessa Soldan; Justine Bertrand-Michel; Emeline Lhuillier; Guy Serre; Annabel Maruani; Juliette Mazereeuw-Hautier; Nathalie Jonca
Journal:  Hum Mol Genet       Date:  2017-05-15       Impact factor: 6.150

9.  In search for function of two human orphan SDR enzymes: hydroxysteroid dehydrogenase like 2 (HSDL2) and short-chain dehydrogenase/reductase-orphan (SDR-O).

Authors:  Dorota Kowalik; Ferdinand Haller; Jerzy Adamski; Gabriele Moeller
Journal:  J Steroid Biochem Mol Biol       Date:  2009-08-22       Impact factor: 4.292

10.  Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis.

Authors:  J K Simpson; M Martinez-Queipo; A Onoufriadis; S Tso; E Glass; L Liu; T Higashino; W Scott; C Tierney; M A Simpson; R Desomchoke; L Youssefian; A H SaeIdian; H Vahidnezhad; A Bisquera; J Ravenscroft; C Moss; E A O'Toole; N Burrows; S Leech; E A Jones; D Lim; A Ilchyshyn; N Goldstraw; M J Cork; S Darne; J Uitto; A E Martinez; J E Mellerio; J A McGrath
Journal:  Br J Dermatol       Date:  2019-08-26       Impact factor: 9.302
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