(Q28258084)

English

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia

scientific article

In more languages

Statements

scholarly article

0 references

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia (English)

0 references

Valérie Cormier-Daire

6

object named as

Valérie Cormier-Daire

0 references

Martine Le Merrer

2

object named as

Martine Le Merrer

0 references

Laurence Legeai-Mallet

object named as

Laurence Legeai-Mallet

5

0 references

author name string

Solange Heuertz

1

0 references

Bernhard Zabel

3

0 references

Michael Wright

4

0 references

Linda Gibbs

7

0 references

Jacky Bonaventure

8

0 references

language of work or name

0 references

publication date

December 2006

0 references

European Journal of Human Genetics

0 references

14

0 references

1240-7

0 references

12

0 references

Cell signaling by receptor tyrosine kinases

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201700

21 April 2017

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

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201700

21 April 2017

Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201700

21 April 2017

Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201700

21 April 2017

Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201700

21 April 2017

Insights into the molecular basis for fibroblast growth factor receptor autoinhibition and ligand-binding promiscuity

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201700

21 April 2017

Hypochondroplasia: Clinical and Radiological Aspects in 39 cases

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201700

21 January 2018

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201700

21 January 2018

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201700

21 January 2018

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201700

21 January 2018

Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201700

21 January 2018

Clinical and genetic heterogeneity of hypochondroplasia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201700

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201700

21 January 2018

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201700

21 January 2018

Differential activation of cysteine-substitution mutants of fibroblast growth factor receptor 3 is determined by cysteine localization

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201700

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201700

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201700

21 January 2018

The kinase activity of fibroblast growth factor receptor 3 with activation loop mutations affects receptor trafficking and signaling

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201700

21 January 2018

Alternately spliced NH2-terminal immunoglobulin-like Loop I in the ectodomain of the fibroblast growth factor (FGF) receptor 1 lowers affinity for both heparin and FGF-1.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201700

21 January 2018

A sequence motif in the transmembrane region of growth factor receptors with tyrosine kinase activity mediates dimerization

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201700

21 January 2018

Neu receptor dimerization

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201700

21 January 2018

Hypochondroplasia and stature within normal limits: Another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201700

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201700

7 January 2021

based on heuristic

inferred from DOI database lookup

A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201700

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/SJ.EJHG.5201700

0 references

0 references

ResearchGate publication ID

0 references

Springer Nature article ID

10.1038/sj.ejhg.5201700

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q28258084&oldid=1834225652"