Literature DB >> 11807863

Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III.

Hiromasa Kobayashi1, Megumu Hino, Makiko Shimodahira, Toshio Iwakura, Takashi Ishihara, Katsuji Ikekubo, Yoshihiro Ogawa, Kazuwa Nakao, Hiroyuki Kurahachi.   

Abstract

We report a new Japanese family with tricho-rhino-phalangeal syndrome type III (TRPS III) who have a missense mutation (Arg908Gln) of theTRPS1 gene (TRPS1) in affected individuals of the family. This study supports the notion that TRPS III results from missense mutations in exon 6 of TRPS1. Copyright 2001 Wiley-Liss, Inc.

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Year:  2002        PMID： 11807863     DOI： 10.1002/ajmg.10081

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  7 in total

1.  The gene associated with trichorhinophalangeal syndrome in humans is overexpressed in breast cancer.

Authors:  Laszlo Radvanyi; Devender Singh-Sandhu; Scott Gallichan; Corey Lovitt; Artur Pedyczak; Gustavo Mallo; Kurt Gish; Kevin Kwok; Wedad Hanna; Judith Zubovits; Jane Armes; Deon Venter; Jalil Hakimi; Jean Shortreed; Melinda Donovan; Mark Parrington; Pamela Dunn; Ray Oomen; James Tartaglia; Neil L Berinstein
Journal:  Proc Natl Acad Sci U S A       Date:  2005-07-25       Impact factor: 11.205

2.  Trps1 activates a network of secreted Wnt inhibitors and transcription factors crucial to vibrissa follicle morphogenesis.

Authors:  Katherine A Fantauzzo; Angela M Christiano
Journal:  Development       Date:  2011-11-24       Impact factor: 6.868

3.  Non-ossifying fibroma with a pathologic fracture in a 12-year-old girl with tricho-rhino-phalangeal syndrome: a case report.

Authors:  Weijuan Su; Xiulin Shi; Mingzhu Lin; Caoxin Huang; Liying Wang; Haiqu Song; Yanzhen Zhuang; Haifang Zhang; Nanzhu Li; Xuejun Li
Journal:  BMC Med Genet       Date:  2018-12-12       Impact factor: 2.103

4.  TRPS1 mutation detection in Chinese patients with Tricho-rhino-phalangeal syndrome and identification of four novel mutations.

Authors:  Chen Wang; Yufei Xu; Yanrong Qing; Ruen Yao; Niu Li; Xiumin Wang; Tingting Yu; Jian Wang
Journal:  Mol Genet Genomic Med       Date:  2020-08-10       Impact factor: 2.183

5.  Characterization of the chromosomal inversion associated with the Koa mutation in the mouse revealed the cause of skeletal abnormalities.

Authors:  Kentaro Katayama; Sayaka Miyamoto; Aki Furuno; Kouyou Akiyama; Sakino Takahashi; Hiroetsu Suzuki; Takehito Tsuji; Tetsuo Kunieda
Journal:  BMC Genet       Date:  2009-09-22       Impact factor: 2.797

6.  Cell fate decisions are specified by the dynamic ERK interactome.

Authors:  Daniela Baiocchi; Marc Birtwistle; Alex von Kriegsheim; David Sumpton; Willy Bienvenut; Nicholas Morrice; Kayo Yamada; Angus Lamond; Gabriella Kalna; Richard Orton; David Gilbert; Walter Kolch
Journal:  Nat Cell Biol       Date:  2009-11-22       Impact factor: 28.824

7.  Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I.

Authors:  Yuliya Ovcharenko; Yuval Ramot
Journal:  Int J Trichology       Date:  2013-07
  7 in total

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