(Q28258084)

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

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

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Valérie Cormier-Daire

6

object named as

Valérie Cormier-Daire

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Martine Le Merrer

2

object named as

Martine Le Merrer

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Laurence Legeai-Mallet

object named as

Laurence Legeai-Mallet

5

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author name string

Solange Heuertz

1

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Bernhard Zabel

3

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Michael Wright

4

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Linda Gibbs

7

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Jacky Bonaventure

8

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language of work or name

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publication date

December 2006

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European Journal of Human Genetics

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14

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12

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1240-7

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Cell signaling by receptor tyrosine kinases

1 reference

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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

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21 April 2017

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

1 reference

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21 April 2017

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

1 reference

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21 April 2017

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

1 reference

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21 April 2017

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

1 reference

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21 April 2017

Hypochondroplasia: Clinical and Radiological Aspects in 39 cases

1 reference

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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

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21 January 2018

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

1 reference

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21 January 2018

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

1 reference

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21 January 2018

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

1 reference

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21 January 2018

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

1 reference

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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

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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

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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

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10.1038/SJ.EJHG.5201700

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