与成纤维细胞生长因子受体3（FGFR3）相关的侏儒症与细胞信号传导 - Suppr

FGFR3-related dwarfism and cell signaling.

作者信息

Harada Daisuke, Yamanaka Yoshitaka, Ueda Koso, Tanaka Hiroyuki, Seino Yoshiki

机构信息

Department of Pediatrics, Okayama University Graduated School of Medicine and Dentistry, 2-5-1, Shikata-cho, Okayama 700-8558, Japan.

出版信息

J Bone Miner Metab. 2009;27(1):9-15. doi: 10.1007/s00774-008-0009-7. Epub 2008 Dec 9.

DOI:10.1007/s00774-008-0009-7

PMID:19066716

Abstract

摘要

相似文献

J Bone Miner Metab. 2009;27(1):9-15. doi: 10.1007/s00774-008-0009-7. Epub 2008 Dec 9.

Sustained phosphorylation of mutated FGFR3 is a crucial feature of genetic dwarfism and induces apoptosis in the ATDC5 chondrogenic cell line via PLCgamma-activated STAT1.突变型FGFR3的持续磷酸化是遗传性侏儒症的关键特征，并通过PLCγ激活的STAT1诱导ATDC5软骨生成细胞系发生凋亡。

Bone. 2007 Aug;41(2):273-81. doi: 10.1016/j.bone.2006.11.030. Epub 2007 Feb 9.

Dephosphorylation is the mechanism of fibroblast growth factor inhibition of guanylyl cyclase-B.去磷酸化是成纤维细胞生长因子抑制鸟苷酸环化酶-B 的机制。

Cell Signal. 2017 Dec;40:222-229. doi: 10.1016/j.cellsig.2017.09.021. Epub 2017 Sep 28.

Does the co-occurrence of FGFR3 gene mutation in hypochondroplasia, medial temporal lobe dysgenesis, and focal epilepsy suggest a syndrome?软骨发育不全、内侧颞叶发育异常和局灶性癫痫中FGFR3基因突变的同时出现是否提示一种综合征？

Pediatr Neurol. 2014 Apr;50(4):427-30. doi: 10.1016/j.pediatrneurol.2014.01.004. Epub 2014 Jan 7.

De novo stop-lost germline mutation in FGFR3 causes severe chondrodysplasia in the progeny of a Holstein bull.胚系 FGFR3 新出现的无义突变导致荷斯坦公牛后代出现严重的软骨发育不良。

Anim Genet. 2020 Jun;51(3):466-469. doi: 10.1111/age.12934. Epub 2020 Apr 2.

[Mutation analysis of FGFR3 gene in a family featuring hereditary dwarfism].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Dec;28(6):705-7. doi: 10.3760/cma.j.issn.1003-9406.2011.06.024.

Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation.伴有FGFR3 K650T突变的家族性软骨发育不全和黑棘皮病

J Eur Acad Dermatol Venereol. 2016 May;30(5):897-8. doi: 10.1111/jdv.13061. Epub 2015 Mar 24.

FGFR3 biology and skeletal disease.成纤维细胞生长因子受体3生物学与骨骼疾病

Connect Tissue Res. 2015 Nov;56(6):427-33. doi: 10.3109/03008207.2015.1051224. Epub 2015 Jul 29.

A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors.成纤维细胞生长因子受体3（FGFR3）中的赖氨酸644位点被谷氨酸替代，通过激活信号转导子和转录激活子（STATs）以及Ink4细胞周期抑制剂，导致小鼠出现侏儒症。

Hum Mol Genet. 1999 Jan;8(1):35-44. doi: 10.1093/hmg/8.1.35.

Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.伴有黑棘皮病、发育正常且携带p.Ser348Cys FGFR3突变的轻度软骨发育不全/低软骨发育不全

Am J Med Genet A. 2017 Apr;173(4):1097-1101. doi: 10.1002/ajmg.a.38141. Epub 2017 Feb 9.

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A Comprehensive Study of De Novo Mutations on the Protein-Protein Interaction Interfaces Provides New Insights into Developmental Delay.全面研究蛋白质-蛋白质相互作用界面上的从头突变为发育迟缓提供了新的见解。

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Mol Syndromol. 2018 Feb;9(2):92-99. doi: 10.1159/000486697. Epub 2018 Feb 2.

Molecular therapeutic strategies for FGFR3 gene-related skeletal dysplasia.成纤维细胞生长因子受体 3 基因相关骨骼发育不良的分子治疗策略。

J Mol Med (Berl). 2017 Dec;95(12):1303-1313. doi: 10.1007/s00109-017-1602-9. Epub 2017 Oct 23.

Pediatric Craniovertebral Junction Surgery.小儿颅颈交界区手术

Neurol Med Chir (Tokyo). 2017 Sep 15;57(9):435-460. doi: 10.2176/nmc.ra.2017-0032. Epub 2017 Aug 1.

A New Method to Study Heterodimerization of Membrane Proteins and Its Application to Fibroblast Growth Factor Receptors.一种研究膜蛋白异源二聚化的新方法及其在成纤维细胞生长因子受体中的应用。

J Biol Chem. 2017 Jan 27;292(4):1288-1301. doi: 10.1074/jbc.M116.755777. Epub 2016 Dec 7.

Characterization of membrane protein interactions in plasma membrane derived vesicles with quantitative imaging Förster resonance energy transfer.利用定量成像福斯特共振能量转移对质膜衍生囊泡中的膜蛋白相互作用进行表征。

Acc Chem Res. 2015 Aug 18;48(8):2262-9. doi: 10.1021/acs.accounts.5b00238. Epub 2015 Aug 5.

Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization.I型致死性骨发育不全突变对成纤维细胞生长因子受体3（FGFR3）二聚化的影响。

Biophys J. 2015 Jan 20;108(2):272-8. doi: 10.1016/j.bpj.2014.11.3460.

New evidence for positive selection helps explain the paternal age effect observed in achondroplasia.新的正选择证据有助于解释在软骨发育不全中观察到的父龄效应。

Hum Mol Genet. 2013 Oct 15;22(20):4117-26. doi: 10.1093/hmg/ddt260. Epub 2013 Jun 4.

Multiple consequences of a single amino acid pathogenic RTK mutation: the A391E mutation in FGFR3.单一氨基酸致病性 RTK 突变的多种后果：FGFR3 中的 A391E 突变。

PLoS One. 2013;8(2):e56521. doi: 10.1371/journal.pone.0056521. Epub 2013 Feb 20.

本文引用的文献

Achondroplasia.软骨发育不全

Lancet. 2007 Jul 14;370(9582):162-172. doi: 10.1016/S0140-6736(07)61090-3.

Bone. 2007 Aug;41(2):273-81. doi: 10.1016/j.bone.2006.11.030. Epub 2007 Feb 9.

PTH has the potential to rescue disturbed bone growth in achondroplasia.甲状旁腺激素有潜力挽救软骨发育不全中紊乱的骨骼生长。

Bone. 2007 Jul;41(1):13-8. doi: 10.1016/j.bone.2007.02.028. Epub 2007 Mar 12.

Natriuretic peptides, their receptors, and cyclic guanosine monophosphate-dependent signaling functions.利钠肽、其受体及环磷酸鸟苷依赖性信号传导功能。

Endocr Rev. 2006 Feb;27(1):47-72. doi: 10.1210/er.2005-0014. Epub 2005 Nov 16.

Cellular signaling by fibroblast growth factor receptors.成纤维细胞生长因子受体介导的细胞信号传导

Cytokine Growth Factor Rev. 2005 Apr;16(2):139-49. doi: 10.1016/j.cytogfr.2005.01.001. Epub 2005 Feb 1.

Cell responses to FGFR3 signalling: growth, differentiation and apoptosis.细胞对FGFR3信号传导的反应：生长、分化和凋亡。

Exp Cell Res. 2005 Apr 1;304(2):417-31. doi: 10.1016/j.yexcr.2004.11.012. Epub 2004 Dec 16.

The kinase activity of fibroblast growth factor receptor 3 with activation loop mutations affects receptor trafficking and signaling.具有激活环突变的成纤维细胞生长因子受体3的激酶活性影响受体运输和信号传导。

J Biol Chem. 2004 Oct 8;279(41):43254-60. doi: 10.1074/jbc.M405247200. Epub 2004 Aug 2.

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.跨膜利钠肽受体NPR-B的突变会损害骨骼生长，并导致马罗托型肢端中胚层发育异常。

Am J Hum Genet. 2004 Jul;75(1):27-34. doi: 10.1086/422013. Epub 2004 May 14.

Overexpression of FGFR3, Stat1, Stat5 and p21Cip1 correlates with phenotypic severity and defective chondrocyte differentiation in FGFR3-related chondrodysplasias.FGFR3、Stat1、Stat5和p21Cip1的过表达与FGFR3相关软骨发育不全的表型严重程度和软骨细胞分化缺陷相关。

Bone. 2004 Jan;34(1):26-36. doi: 10.1016/j.bone.2003.09.002.

Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway.软骨细胞中CNP的过表达通过丝裂原活化蛋白激酶（MAPK）依赖途径挽救软骨发育不全。

Nat Med. 2004 Jan;10(1):80-6. doi: 10.1038/nm971. Epub 2003 Dec 14.

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FGFR3-related dwarfism and cell signaling.

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