Literature DB >> 19440220

A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family.

Monia Kharfi, Nadia El Fekih, Donia Ammar, Habib Jaafoura, Susanne Schwonbeck, Maurice A M van Steensel, Bécima Fazaa, Mohamed Ridha Kamoun, Judith Fischer.   

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Year:  2009        PMID： 19440220     DOI： 10.1038/jid.2009.118

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  6 in total

1.  Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.

Authors:  Zhimiao Lin; Jiahui Zhao; Daniela Nitoiu; Claire A Scott; Vincent Plagnol; Frances J D Smith; Neil J Wilson; Christian Cole; Mary E Schwartz; W H Irwin McLean; Huijun Wang; Cheng Feng; Lina Duo; Eray Yihui Zhou; Yali Ren; Lanlan Dai; Yulan Chen; Jianguo Zhang; Xun Xu; Edel A O'Toole; David P Kelsell; Yong Yang
Journal:  Am J Hum Genet       Date:  2015-02-12       Impact factor: 11.025

2.  Acral peeling skin syndrome in two East-African siblings: case report.

Authors:  Samson K Kiprono; Baraka M Chaula; Bernard Naafs; John E Masenga
Journal:  BMC Dermatol       Date:  2012-03-19

3.  Acral peeling skin syndrome resembling epidermolysis bullosa simplex in a 10-month-old boy.

Authors:  S Kavaklieva; I Yordanova; L Bruckner-Tuderman; C Has
Journal:  Case Rep Dermatol       Date:  2013-08-07

4.  Adult-onset acral peeling skin syndrome in a non-identical twin: a case report in South Africa.

Authors:  Reshmi Mathew; Olufemi B Omole; Jonathan Rigby; Wayne Grayson
Journal:  Am J Case Rep       Date:  2014-12-31

5.  A Case of Inflammatory Generalized Type of Peeling Skin Syndrome Possibly Caused by a Homozygous Missense Mutation of CDSN.

Authors:  Hiroshi Kawakami; Masaki Uchiyama; Tatsuo Maeda; Takahiko Tsunoda; Yoshihiko Mitsuhashi; Ryoji Tsuboi
Journal:  Case Rep Dermatol       Date:  2014-10-11

6.  Genomic variants reveal differential evolutionary constraints on human transglutaminases and point towards unrecognized significance of transglutaminase 2.

Authors:  Kiruphagaran Thangaraju; Róbert Király; Máté A Demény; János András Mótyán; Mónika Fuxreiter; László Fésüs
Journal:  PLoS One       Date:  2017-03-01       Impact factor: 3.240
  6 in total

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