Literature DB >> 15967942

Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease.

Nicolas Schleinitz, Judith Fischer, Angélique Sanchez, Véronique Veit, Jean-Robert Harle, Jean-François Pelissier.   

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Year:  2005        PMID： 15967942     DOI： 10.1001/archderm.141.6.798

Source DB:  PubMed          Journal:  Arch Dermatol        ISSN： 0003-987X


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  11 in total

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Review 2.  CGI-58: Versatile Regulator of Intracellular Lipid Droplet Homeostasis.

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3.  Dorfman-Chanarin Syndrome: A Rare Cause of Metabolic Associated Fatty Liver Disease Related to Homozygosity of the Nonsense Mutation c.934C>T (p.R312*).

Authors:  Rita Quelhas da Costa; Francisco Laranjeira; Isaura Duarte Ribeiro; António Filipe Santos; Filipe Nery
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4.  Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome.

Authors:  Julia Kopp; Cristina Has; Alrun Hotz; Sarah C Grünert; Judith Fischer
Journal:  Genes (Basel)       Date:  2021-07-29       Impact factor: 4.096

Review 5.  The G0/G1 switch gene 2 (G0S2): regulating metabolism and beyond.

Authors:  Bradlee L Heckmann; Xiaodong Zhang; Xitao Xie; Jun Liu
Journal:  Biochim Biophys Acta       Date:  2012-09-29

6.  Comparative gene identification 58/α/β hydrolase domain 5 lacks lysophosphatidic acid acyltransferase activity.

Authors:  Derek McMahon; Anna Dinh; Daniel Kurz; Dharika Shah; Gil-Soo Han; George M Carman; Dawn L Brasaemle
Journal:  J Lipid Res       Date:  2014-05-30       Impact factor: 5.922

7.  CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes.

Authors:  Masashi Akiyama; Kaori Sakai; Chitoshi Takayama; Teruki Yanagi; Yasuko Yamanaka; James R McMillan; Hiroshi Shimizu
Journal:  Am J Pathol       Date:  2008-10-02       Impact factor: 4.307

8.  Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene.

Authors:  Chiara Redaelli; Rosalind A Coleman; Laura Moro; Catherine Dacou-Voutetakis; Solaf Mohamed Elsayed; Daniele Prati; Agostino Colli; Donatella Mela; Roberto Colombo; Daniela Tavian
Journal:  Orphanet J Rare Dis       Date:  2010-12-01       Impact factor: 4.123

9.  Fat in the skin: Triacylglycerol metabolism in keratinocytes and its role in the development of neutral lipid storage disease.

Authors:  Franz Pw Radner; Susanne Grond; Guenter Haemmerle; Achim Lass; Rudolf Zechner
Journal:  Dermatoendocrinol       Date:  2011-04-01

10.  Genome metabolome integrated network analysis to uncover connections between genetic variants and complex traits: an application to obesity.

Authors:  Beatriz Valcárcel; Timothy M D Ebbels; Antti J Kangas; Pasi Soininen; Paul Elliot; Mika Ala-Korpela; Marjo-Riitta Järvelin; Maria de Iorio
Journal:  J R Soc Interface       Date:  2014-02-26       Impact factor: 4.118
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