Literature DB >> 26997095

A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome.

Sanae Numata1, Kwesi Teye1, Rafal P Krol1, Yuki Okamatsu2, Keiko Hashikawa1, Mitsuhiro Matsuda1, Paola Fortugno3, Giovanni Di Zenzo3, Daniele Castiglia3, Giovanna Zambruno3, Takahiro Hamada1, Takashi Hashimoto1.   

Abstract

Entities:  

Keywords:  Netherton syndrome; SPINK5; p.Gln158Gln; pathogenicity

Mesh：

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Year:  2016        PMID： 26997095     DOI： 10.1111/exd.13011

Source DB:  PubMed          Journal:  Exp Dermatol        ISSN： 0906-6705            Impact factor:   3.960


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  3 in total

Review 1.  Netherton Syndrome: A Genotype-Phenotype Review.

Authors:  Constantina A Sarri; Angeliki Roussaki-Schulze; Yiannis Vasilopoulos; Efterpi Zafiriou; Aikaterini Patsatsi; Costas Stamatis; Polyxeni Gidarokosta; Dimitrios Sotiriadis; Theologia Sarafidou; Zissis Mamuris
Journal:  Mol Diagn Ther       Date:  2017-04       Impact factor: 4.074

2.  A novel mutation in SPINK5 gene underlies a case of atypical Netherton syndrome.

Authors:  Yu Wang; Hanqing Song; Lingling Yu; Nan Wu; Xiaodong Zheng; Bo Liang; Peiguang Wang
Journal:  Front Genet       Date:  2022-09-09       Impact factor: 4.772

3.  A novel SPINK5 donor splice site variant in a child with Netherton syndrome.

Authors:  Dillon Mintoff; Isabella Borg; Julia Vornweg; Liam Mercieca; Rijad Merdzanic; Johannes Numrich; Susan Aquilina; Nikolai Paul Pace; Judith Fischer
Journal:  Mol Genet Genomic Med       Date:  2021-02-03       Impact factor: 2.183
  3 in total

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