Literature DB >> 9452043

Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia.

P P Deutz-Terlouw1, M Losekoot, C M Aalfs, R C Hennekam, E Bakker.   

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Year:  1998        PMID： 9452043     DOI： 10.1002/humu.1380110122

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  9 in total

1.  A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.

Authors:  Huaibin Chen; Jinghong Ma; Wanqing Li; Anna V Eliseenkova; Chongfeng Xu; Thomas A Neubert; W Todd Miller; Moosa Mohammadi
Journal:  Mol Cell       Date:  2007-09-07       Impact factor: 17.970

2.  Sequence survey of receptor tyrosine kinases reveals mutations in glioblastomas.

Authors:  Vikki Rand; Jiaqi Huang; Tim Stockwell; Steve Ferriera; Oleksandr Buzko; Samuel Levy; Dana Busam; Kelvin Li; Jennifer B Edwards; Charles Eberhart; Kathleen M Murphy; Alexia Tsiamouri; Karen Beeson; Andrew J G Simpson; J Craig Venter; Gregory J Riggins; Robert L Strausberg
Journal:  Proc Natl Acad Sci U S A       Date:  2005-09-26       Impact factor: 11.205

3.  Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.

Authors:  G A Bellus; E B Spector; P W Speiser; C A Weaver; A T Garber; C R Bryke; J Israel; S S Rosengren; M K Webster; D J Donoghue; C A Francomano
Journal:  Am J Hum Genet       Date:  2000-10-27       Impact factor: 11.025

4.  FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.

Authors:  Yuan Xue; Angela Sun; P Betty Mekikian; Jorge Martin; David L Rimoin; Ralph S Lachman; William R Wilcox
Journal:  Mol Genet Genomic Med       Date:  2014-08-05       Impact factor: 2.183

5.  Prevalence of Mutations in the FGFR3 Gene in Individuals with Idiopathic Short Stature.

Authors:  Mitsukazu Mamada; Tohru Yorifuji; Keiji Kurokawa; Masahiko Kawai; Toru Momoi; Tatsutoshi Nakahata
Journal:  Clin Pediatr Endocrinol       Date:  2006-04-29

6.  Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association?

Authors:  Manal Mustafa; Nabil Moghrabi; Bassam Bin-Abbas
Journal:  Case Rep Endocrinol       Date:  2014-11-19

7.  Elucidation of a four-site allosteric network in fibroblast growth factor receptor tyrosine kinases.

Authors:  Huaibin Chen; William M Marsiglia; Min-Kyu Cho; Zhifeng Huang; Jingjing Deng; Steven P Blais; Weiming Gai; Shibani Bhattacharya; Thomas A Neubert; Nathaniel J Traaseth; Moosa Mohammadi
Journal:  Elife       Date:  2017-02-06       Impact factor: 8.140

8.  A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia.

Authors:  Ikuko Takahashi; Daiki Kondo; Chikako Oyama; Tamami Yano; Hiroaki Tamura; Atsuko Noguchi; Tsutomu Takahashi
Journal:  Hum Genome Var       Date:  2018-04-12

Review 9.  Identification of a novel mutation of FGFR3 gene in a large Chinese pedigree with hypochondroplasia by next-generation sequencing: A case report and brief literature review.

Authors:  Guixiang Yao; Guangxin Wang; Dawei Wang; Guohai Su
Journal:  Medicine (Baltimore)       Date:  2019-01       Impact factor: 1.817
  9 in total

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