Literature DB >> 24371407

A novel missense mutation of keratin 17 gene in a chinese family with steatocystoma multiplex.

Wei-Wei Ha1, Jing Wang1, Wen Wang1, Hong-Yang Fu1, Hua-Yang Tang1, Xian-Fa Tang1, Jun Zhu1, Xian-Yong Yin1, Sen Yang2, Xue-Jun Zhang2.   

Abstract

Entities:  

Year:  2013        PMID： 24371407      PMCID： PMC3870228          DOI： 10.5021/ad.2013.25.4.508

Source DB:  PubMed          Journal:  Ann Dermatol        ISSN： 1013-9087            Impact factor:   1.444


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  5 in total

1.  Steatocystoma multiplex treated with isotretinoin: a delayed response.

Authors:  D L Moritz; R A Silverman
Journal:  Cutis       Date:  1988-11

2.  Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.

Authors:  F J Smith; L D Corden; E L Rugg; R Ratnavel; I M Leigh; C Moss; M J Tidman; D Hohl; M Huber; L Kunkeler; C S Munro; E B Lane; W H McLean
Journal:  J Invest Dermatol       Date:  1997-02       Impact factor: 8.551

3.  A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2.

Authors:  F J Smith; M F Jonkman; H van Goor; C M Coleman; S P Covello; J Uitto; W H McLean
Journal:  Hum Mol Genet       Date:  1998-07       Impact factor: 6.150

4.  Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.

Authors:  S P Covello; F J Smith; J H Sillevis Smitt; A S Paller; C S Munro; M F Jonkman; J Uitto; W H McLean
Journal:  Br J Dermatol       Date:  1998-09       Impact factor: 9.302

5.  Keratin 16 and keratin 17 mutations cause pachyonychia congenita.

Authors:  W H McLean; E L Rugg; D P Lunny; S M Morley; E B Lane; O Swensson; P J Dopping-Hepenstal; W A Griffiths; R A Eady; C Higgins
Journal:  Nat Genet       Date:  1995-03       Impact factor: 38.330
  5 in total
  2 in total

1.  Steatocystoma multiplex is associated with the R94C mutation in the KRTl7 gene.

Authors:  Qiao Liu; Weiwei Wu; Jiejie Lu; Ping Wang; Feng Qiao
Journal:  Mol Med Rep       Date:  2015-07-08       Impact factor: 2.952

2.  Steatocystoma multiplex suppurativa: case report of a rare condition.

Authors:  Cândida Naira Lima E Lima Santana; Daniele do Nascimento Pereira; Alice Paixão Lisboa; Juliana Martins Leal; Daniel Lago Obadia; Roberto Souto da Silva
Journal:  An Bras Dermatol       Date:  2016 Sep-Oct       Impact factor: 1.896
  2 in total

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