The Thanatophoric Dysplasia Type II Mutation Hampers Complete Maturation of Fibroblast Growth Factor Receptor 3 (FGFR3), Which Activates Signal Transducer and Activator of Transcription 1 (STAT1) from the Endoplasmic Reticulum

Patricia M-J. Lievens; Elio Liboi

doi:10.1074/jbc.m212710200

The Thanatophoric Dysplasia Type II Mutation Hampers Complete Maturation of Fibroblast Growth Factor Receptor 3 (FGFR3), Which Activates Signal Transducer and Activator of Transcription 1 (STAT1) from the Endoplasmic Reticulum

Journal of Biological Chemistry ◽

10.1074/jbc.m212710200 ◽

2003 ◽

Vol 278 (19) ◽

pp. 17344-17349 ◽

Cited By ~ 48

Author(s):

Patricia M-J. Lievens ◽

Elio Liboi

Keyword(s):

Endoplasmic Reticulum ◽

Growth Factor ◽

Fibroblast Growth Factor ◽

Fibroblast Growth Factor Receptor ◽

Growth Factor Receptor ◽

Type Ii ◽

Fibroblast Growth ◽

Signal Transducer ◽

Thanatophoric Dysplasia

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Activation of Statl by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism

Nature ◽

10.1038/386288a0 ◽

1997 ◽

Vol 386 (6622) ◽

pp. 288-292 ◽

Cited By ~ 212

Author(s):

Wu-Chou S. Su ◽

Motoo Kitagawa ◽

Ninrong Xue ◽

Bing Xie ◽

Silvio Garofalo ◽

...

Keyword(s):

Growth Factor ◽

Fibroblast Growth Factor ◽

Fibroblast Growth Factor Receptor ◽

Growth Factor Receptor ◽

Type Ii ◽

Fibroblast Growth ◽

Thanatophoric Dysplasia

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Fibroblast growth factor receptor 3 mutations promote apoptosis but do not alter chondrocyte proliferation in thanatophoric dysplasia.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(18)80277-0 ◽

1998 ◽

Vol 273 (30) ◽

pp. 19358

Author(s):

Laurence Legeai-Mallet ◽

Catherine Benoist-Lasselin ◽

Anne-Lise Delezoide ◽

Arnold Munnich ◽

Jacky Bonaventure

Keyword(s):

Growth Factor ◽

Fibroblast Growth Factor ◽

Fibroblast Growth Factor Receptor ◽

Growth Factor Receptor ◽

Fibroblast Growth ◽

Thanatophoric Dysplasia ◽

Chondrocyte Proliferation

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An unusual radiological finding in thanatophoric dysplasia type 1 with common mutation of the fibroblast growth factor receptor-3 (FGFR3) gene (Arg248Cys)

American Journal of Medical Genetics ◽

10.1002/(sici)1096-8628(19970711)71:1<122::aid-ajmg22>3.0.co;2-n ◽

1997 ◽

Vol 71 (1) ◽

pp. 122-123 ◽

Cited By ~ 5

Author(s):

Gianni Camera ◽

Maurizia Baldi ◽

Maria Baffico ◽

Silvano Pozzolo

Keyword(s):

Growth Factor ◽

Fibroblast Growth Factor ◽

Fibroblast Growth Factor Receptor ◽

Radiological Finding ◽

Growth Factor Receptor ◽

Common Mutation ◽

Fibroblast Growth ◽

Thanatophoric Dysplasia ◽

Fgfr3 Gene

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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

Biochemical and Biophysical Research Communications ◽

10.1006/bbrc.1996.1495 ◽

1996 ◽

Vol 227 (1) ◽

pp. 236-239 ◽

Cited By ~ 7

Author(s):

Rohit Kumar Pokharel ◽

Haryanto Alimsardjono ◽

Yasuhiro Takeshima ◽

Hajime Nakamura ◽

Kenji Naritomi ◽

...

Keyword(s):

Growth Factor ◽

Fibroblast Growth Factor ◽

Fibroblast Growth Factor Receptor ◽

Growth Factor Receptor ◽

Fibroblast Growth ◽

Thanatophoric Dysplasia

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

Nature Genetics ◽

10.1038/ng0395-321 ◽

1995 ◽

Vol 9 (3) ◽

pp. 321-328 ◽

Cited By ~ 430

Author(s):

Patricia L. Tavormina ◽

Rita Shiang ◽

Leslie M. Thompson ◽

Ya-Zhen Zhu ◽

Douglas J. Wilkin ◽

...

Keyword(s):

Growth Factor ◽

Fibroblast Growth Factor ◽

Fibroblast Growth Factor Receptor ◽

Growth Factor Receptor ◽

Fibroblast Growth ◽

Thanatophoric Dysplasia

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Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia

Nature Genetics ◽

10.1038/ng0696-233 ◽

1996 ◽

Vol 13 (2) ◽

pp. 233-237 ◽

Cited By ~ 361

Author(s):

Michael C. Naski ◽

Qing Wang ◽

Jingsong Xu ◽

David M. Ornitz

Keyword(s):

Growth Factor ◽

Fibroblast Growth Factor ◽

Fibroblast Growth Factor Receptor ◽

Growth Factor Receptor ◽

Fibroblast Growth ◽

Thanatophoric Dysplasia

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Fibroblast Growth Factor Receptor Deficiency Results in Abnormal Type II Pneumocyte Gene Expression and Dysregulation of Matrix Production

The FASEB Journal ◽

10.1096/fasebj.21.5.a10 ◽

2007 ◽

Vol 21 (5) ◽

Cited By ~ 1

Author(s):

Sorachai Srisuma ◽

Soumyaroop Bhattacharya ◽

Feng Tu ◽

Barry Starcher ◽

Thomas J Mariani

Keyword(s):

Gene Expression ◽

Growth Factor ◽

Fibroblast Growth Factor ◽

Fibroblast Growth Factor Receptor ◽

Growth Factor Receptor ◽

Type Ii ◽

Fibroblast Growth ◽

Type Ii Pneumocyte ◽

Matrix Production

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Fibroblast Growth Factor Receptor 3 Mutations Promote Apoptosis but Do Not Alter Chondrocyte Proliferation in Thanatophoric Dysplasia

Journal of Biological Chemistry ◽

10.1074/jbc.273.21.13007 ◽

1998 ◽

Vol 273 (21) ◽

pp. 13007-13014 ◽

Cited By ~ 91

Author(s):

Laurence Legeai-Mallet ◽

Catherine Benoist-Lasselin ◽

Anne-Lise Delezoide ◽

Arnold Munnich ◽

Jacky Bonaventure

Keyword(s):

Growth Factor ◽

Fibroblast Growth Factor ◽

Fibroblast Growth Factor Receptor ◽

Growth Factor Receptor ◽

Fibroblast Growth ◽

Thanatophoric Dysplasia ◽

Chondrocyte Proliferation

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Effect of Thanatophoric Dysplasia Type I Mutations on Fibroblast Growth Factor Receptor 3 Dimerization

Biophysical Journal ◽

10.1016/j.bpj.2014.11.1419 ◽

2015 ◽

Vol 108 (2) ◽

pp. 256a

Author(s):

Nuala Del Piccolo ◽

Kalina Hristova

Keyword(s):

Growth Factor ◽

Fibroblast Growth Factor ◽

Fibroblast Growth Factor Receptor ◽

Growth Factor Receptor ◽

Type I ◽

Fibroblast Growth ◽

Thanatophoric Dysplasia

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Fibroblast growth factor receptor (FGFR); IL-6; JAK kinase (JAK); phosphoinositide 3-kinase (PI3K); signal transducer and activator of transcription 3 (STAT3)

Science-Business eXchange ◽

10.1038/scibx.2014.1009 ◽

2014 ◽

Vol 7 (34) ◽

pp. 1009-1009

Keyword(s):

Growth Factor ◽

Fibroblast Growth Factor ◽

Fibroblast Growth Factor Receptor ◽

Growth Factor Receptor ◽

Fibroblast Growth ◽

Signal Transducer ◽

Jak Kinase ◽

Phosphoinositide 3 Kinase ◽

Transcription 3

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