Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.

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作者信息

Rousseau F, Saugier P, Le Merrer M, Munnich A, Delezoide A L, Maroteaux P, Bonaventure J, Narcy F, Sanak M

出版信息

Nat Genet. 1995 May;10(1):11-2. doi: 10.1038/ng0595-11.

DOI:10.1038/ng0595-11

PMID:7647778

Abstract

摘要

相似文献

Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.

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Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia.导致软骨发育不全和致死性发育异常的突变对成纤维细胞生长因子受体3的分级激活。

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Mutations in the fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Taiwanese data.成纤维细胞生长因子受体3（FGFR3）突变导致软骨发育不全、低软骨发育不全和致死性骨发育不良：台湾地区数据。

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Second trimester molecular diagnosis of a stop codon FGFR3 mutation in a type I thanatophoric dysplasia fetus following abnormal ultrasound findings.超声检查异常后，对Ⅰ型致死性骨发育不全胎儿进行孕中期成纤维细胞生长因子受体3（FGFR3）基因终止密码子突变的分子诊断。

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Japanese cases of type 1 thanatophoric dysplasia exclusively carry a C to T transition at nucleotide 742 of the fibroblast growth factor receptor 3 gene.日本的1型致死性骨发育不全病例在成纤维细胞生长因子受体3基因的第742位核苷酸处均发生了C到T的转变。

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Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.另一种突变导致I型致死性骨发育不全中FGFR3细胞外结构域中一个未配对的半胱氨酸残基被取代。

Hum Mol Genet. 1995 Nov;4(11):2175-7. doi: 10.1093/hmg/4.11.2175.

Differential activation of cysteine-substitution mutants of fibroblast growth factor receptor 3 is determined by cysteine localization.成纤维细胞生长因子受体3半胱氨酸替代突变体的差异激活由半胱氨酸定位决定。

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Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).错义FGFR3突变在I型致死性侏儒症（TD1）中产生半胱氨酸残基。

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Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

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Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders.先前在非致死性骨骼疾病中发现的膀胱癌中的新型成纤维细胞生长因子受体3（FGFR3）突变。

Eur J Hum Genet. 2002 Dec;10(12):819-24. doi: 10.1038/sj.ejhg.5200883.

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