Literature DB >> 19066716

FGFR3-related dwarfism and cell signaling.

Daisuke Harada1, Yoshitaka Yamanaka, Koso Ueda, Hiroyuki Tanaka, Yoshiki Seino.   

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Year:  2008        PMID： 19066716     DOI： 10.1007/s00774-008-0009-7

Source DB:  PubMed          Journal:  J Bone Miner Metab        ISSN： 0914-8779            Impact factor:   2.626


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  66 in total

Review 1.  FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease.

Authors:  David M Ornitz; Pierre J Marie
Journal:  Genes Dev       Date:  2002-06-15       Impact factor: 11.361

2.  Thanatophoric dysplasia of the straight-bone type (type 2).

Authors:  A M Norman; S Rimmer; S Landy; D Donnai
Journal:  Clin Dysmorphol       Date:  1992-04       Impact factor: 0.816

3.  Differential expression of the fibroblast growth factor receptor (FGFR) multigene family in normal human adult tissues.

Authors:  S E Hughes
Journal:  J Histochem Cytochem       Date:  1997-07       Impact factor: 2.479

Review 4.  The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans.

Authors:  Z Vajo; C A Francomano; D J Wilkin
Journal:  Endocr Rev       Date:  2000-02       Impact factor: 19.871

5.  Effect of growth hormone therapy in children with achondroplasia: growth pattern, hypothalamic-pituitary function, and genotype.

Authors:  H Tanaka; T Kubo; T Yamate; T Ono; S Kanzaki; Y Seino
Journal:  Eur J Endocrinol       Date:  1998-03       Impact factor: 6.664

6.  Human combinatorial Fab library yielding specific and functional antibodies against the human fibroblast growth factor receptor 3.

Authors:  Robert Rauchenberger; Eric Borges; Elisabeth Thomassen-Wolf; Eran Rom; Rivka Adar; Yael Yaniv; Michael Malka; Irina Chumakov; Sarit Kotzer; Dalia Resnitzky; Achim Knappik; Silke Reiffert; Josef Prassler; Karin Jury; Dirk Waldherr; Susanne Bauer; Titus Kretzschmar; Avner Yayon; Christine Rothe
Journal:  J Biol Chem       Date:  2003-07-03       Impact factor: 5.157

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

Authors:  M C Naski; Q Wang; J Xu; D M Ornitz
Journal:  Nat Genet       Date:  1996-06       Impact factor: 38.330

8.  Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.

Authors:  Cynthia F Bartels; Hulya Bükülmez; Pius Padayatti; David K Rhee; Conny van Ravenswaaij-Arts; Richard M Pauli; Stefan Mundlos; David Chitayat; Ling-Yu Shih; Lihadh I Al-Gazali; Sarina Kant; Trevor Cole; Jenny Morton; Valérie Cormier-Daire; Laurence Faivre; Melissa Lees; Jeremy Kirk; Geert R Mortier; Jules Leroy; Bernhard Zabel; Chong Ae Kim; Yanick Crow; Nancy E Braverman; Focco van den Akker; Matthew L Warman
Journal:  Am J Hum Genet       Date:  2004-05-14       Impact factor: 11.025

9.  Lethal neonatal chondrodysplasias in the West of Scotland 1970-1983 with a description of a thanatophoric, dysplasialike, autosomal recessive disorder, Glasgow variant.

Authors:  J M Connor; R A Connor; E M Sweet; A A Gibson; W J Patrick; M B McNay; D H Redford
Journal:  Am J Med Genet       Date:  1985-10

10.  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.

Authors:  Patricia M-J Lievens; Elio Liboi
Journal:  J Biol Chem       Date:  2003-03-06       Impact factor: 5.157
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  17 in total

Review 1.  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

2.  A New Method to Study Heterodimerization of Membrane Proteins and Its Application to Fibroblast Growth Factor Receptors.

Authors:  Nuala Del Piccolo; Sarvenaz Sarabipour; Kalina Hristova
Journal:  J Biol Chem       Date:  2016-12-07       Impact factor: 5.157

3.  Physical basis behind achondroplasia, the most common form of human dwarfism.

Authors:  Lijuan He; William Horton; Kalina Hristova
Journal:  J Biol Chem       Date:  2010-07-12       Impact factor: 5.157

4.  Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia.

Authors:  Maria E S Gomes; Thatiane Y Kanazawa; Fernanda R Riba; Natálya G Pereira; Maria C C Zuma; Natana C Rabelo; Maria T Sanseverino; Dafne D G Horovitz; Juan C Llerena; Denise P Cavalcanti; Sayonara Gonzalez
Journal:  Mol Syndromol       Date:  2018-02-02

Review 5.  Molecular therapeutic strategies for FGFR3 gene-related skeletal dysplasia.

Authors:  Jia Chen; Jiaqi Liu; Yangzhong Zhou; Sen Liu; Gang Liu; Yuzhi Zuo; Zhihong Wu; Nan Wu; Guixing Qiu
Journal:  J Mol Med (Berl)       Date:  2017-10-23       Impact factor: 4.599

6.  The A391E mutation enhances FGFR3 activation in the absence of ligand.

Authors:  Fenghao Chen; Catherine Degnin; Melanie Laederich; William A Horton; Kalina Hristova
Journal:  Biochim Biophys Acta       Date:  2011-04-22

Review 7.  Physical-chemical principles underlying RTK activation, and their implications for human disease.

Authors:  Lijuan He; Kalina Hristova
Journal:  Biochim Biophys Acta       Date:  2011-08-05

8.  FGFR3 heterodimerization in achondroplasia, the most common form of human dwarfism.

Authors:  Lijuan He; Nadia Shobnam; William C Wimley; Kalina Hristova
Journal:  J Biol Chem       Date:  2011-02-15       Impact factor: 5.157

9.  Production of plasma membrane vesicles with chloride salts and their utility as a cell membrane mimetic for biophysical characterization of membrane protein interactions.

Authors:  Nuala Del Piccolo; Jesse Placone; Lijuan He; Sandra Carolina Agudelo; Kalina Hristova
Journal:  Anal Chem       Date:  2012-10-03       Impact factor: 6.986

10.  Characterization of membrane protein interactions in plasma membrane derived vesicles with quantitative imaging Förster resonance energy transfer.

Authors:  Sarvenaz Sarabipour; Nuala Del Piccolo; Kalina Hristova
Journal:  Acc Chem Res       Date:  2015-08-05       Impact factor: 22.384
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