Literature DB >> 7647778

Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.

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

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Year:  1995        PMID： 7647778     DOI： 10.1038/ng0595-11

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  24 in total

1.  Genetic inactivation of ERK1 and ERK2 in chondrocytes promotes bone growth and enlarges the spinal canal.

Authors:  Arjun Sebastian; Takehiko Matsushita; Aya Kawanami; Susan Mackem; Gary E Landreth; Shunichi Murakami
Journal:  J Orthop Res       Date:  2010-10-04       Impact factor: 3.494

Review 2.  Fibroblast growth factor receptor mutations and craniosynostosis: three receptors, five syndromes.

Authors:  A O Wilkie
Journal:  Indian J Pediatr       Date:  1996 May-Jun       Impact factor: 1.967

3.  Up-regulation of the chondrogenic Sox9 gene by fibroblast growth factors is mediated by the mitogen-activated protein kinase pathway.

Authors:  S Murakami; M Kan; W L McKeehan; B de Crombrugghe
Journal:  Proc Natl Acad Sci U S A       Date:  2000-02-01       Impact factor: 11.205

Review 4.  Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias.

Authors:  Silvie Foldynova-Trantirkova; William R Wilcox; Pavel Krejci
Journal:  Hum Mutat       Date:  2011-11-16       Impact factor: 4.878

Review 5.  FGFR3-related dwarfism and cell signaling.

Authors:  Daisuke Harada; Yoshitaka Yamanaka; Koso Ueda; Hiroyuki Tanaka; Yoshiki Seino
Journal:  J Bone Miner Metab       Date:  2008-12-09       Impact factor: 2.626

Review 6.  Skeletal dysplasias.

Authors:  C G Brook; B B de Vries
Journal:  Arch Dis Child       Date:  1998-09       Impact factor: 3.791

Review 7.  Height matters-from monogenic disorders to normal variation.

Authors:  Claudia Durand; Gudrun A Rappold
Journal:  Nat Rev Endocrinol       Date:  2013-01-22       Impact factor: 43.330

Review 8.  Achondroplasia: Development, pathogenesis, and therapy.

Authors:  David M Ornitz; Laurence Legeai-Mallet
Journal:  Dev Dyn       Date:  2017-03-02       Impact factor: 3.780

9.  Overexpression of Spry1 in chondrocytes causes attenuated FGFR ubiquitination and sustained ERK activation resulting in chondrodysplasia.

Authors:  Xuehui Yang; Lauren K Harkins; Olga Zubanova; Anne Harrington; Dmitry Kovalenko; Robert J Nadeau; Pei-Yu Chen; Jessica L Toher; Volkhard Lindner; Lucy Liaw; Robert Friesel
Journal:  Dev Biol       Date:  2008-06-09       Impact factor: 3.582

10.  Parathyroid hormone receptor type 1/Indian hedgehog expression is preserved in the growth plate of human fetuses affected with fibroblast growth factor receptor type 3 activating mutations.

Authors:  Sarah Cormier; Anne-Lise Delezoide; Catherine Benoist-Lasselin; Laurence Legeai-Mallet; Jacky Bonaventure; Caroline Silve
Journal:  Am J Pathol       Date:  2002-10       Impact factor: 4.307
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