Literature DB >> 26547112

Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome.

Takuya Takeichi1, Kazumitsu Sugiura2, Simon Tso3, Michael A Simpson4, John A McGrath3, Masashi Akiyama5.   

Abstract

Keywords:  ABHD5; Dorfman-Chanarin syndrome

Mesh：

Substances：

Year:  2015        PMID： 26547112     DOI： 10.1016/j.jdermsci.2015.10.015

Source DB:  PubMed          Journal:  J Dermatol Sci        ISSN： 0923-1811            Impact factor:   4.563


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  7 in total

1.  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
Journal:  GE Port J Gastroenterol       Date:  2021-07-07

2.  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 3.  Sequence analysis and structure prediction of ABHD16A and the roles of the ABHD family members in human disease.

Authors:  Jun Xu; Weizhen Gu; Kai Ji; Zhao Xu; Haihua Zhu; Wenming Zheng
Journal:  Open Biol       Date:  2018-05       Impact factor: 6.411

4.  Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents.

Authors:  Murat Durdu; Sara Missaglia; Laura Moro; Daniela Tavian
Journal:  BMC Med Genet       Date:  2018-05-29       Impact factor: 2.103

5.  Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome.

Authors:  Daniela Tavian; Murat Durdu; Corrado Angelini; Enza Torre; Sara Missaglia
Journal:  Eur J Transl Myol       Date:  2021-05-12

6.  Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis.

Authors:  Bo Liang; He Huang; Jiaxiang Zhang; Gang Chen; Xiangsheng Kong; Mengting Zhu; Peiguang Wang; Lili Tang
Journal:  Front Genet       Date:  2022-03-28       Impact factor: 4.599

7.  Chanarin-Dorfman syndrome treatment with acitretin.

Authors:  Reem AlNeyadi; Shaden Abdelhadi; Zbigniew Ruszczak
Journal:  JAAD Case Rep       Date:  2022-03-31
  7 in total

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