FGFs, their receptors, and human limb malformations: clinical and molecular correlations (Q34926833)

5 August 2017

1 reference

title

FGFs, their receptors, and human limb malformations: clinical and molecular correlations (English)

1 reference

Andrew Oliver Mungo Wilkie

5 August 2017

1

1 reference

5 August 2017

Susannah J Patey

2

1 reference

5 August 2017

Shih-Hsin Kan

3

1 reference

5 August 2017

Ans M W van den Ouweland

4

1 reference

5 August 2017

Ben C J Hamel

5

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5 August 2017

language of work or name

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1 October 2002

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American Journal of Medical Genetics Part A

5 August 2017

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5 August 2017

112

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5 August 2017

266-278

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5 August 2017

3

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Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

5 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

An intronic sequence element mediates both activation and repression of rat fibroblast growth factor receptor 2 pre-mRNA splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

21 January 2018

Jackson-Weiss syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Skeletal abnormalities in the Apert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Hands and feet in the Apert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Fibroblast growth factors induce additional limb development from the flank of chick embryos

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Of worms and men: an evolutionary perspective on the fibroblast growth factor (FGF) and FGF receptor families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Multiple interdependent sequence elements control splicing of a fibroblast growth factor receptor 2 alternative exon

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Spatio-temporal expression of FGFR 1, 2 and 3 genes during human embryo-fetal ossification.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Fibroblast growth factor receptor-1 (FGFR-1) is essential for normal neural tube and limb development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Medical complications of achondroplasia: a multicentre patient review

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

A novel mutation, Ala315Ser, in FGFR2: a gene–environment interaction leading to craniosynostosis?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

WNT signals control FGF-dependent limb initiation and AER induction in the chick embryo.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Clinical variability in patients with Apert's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Polypyrimidine tract-binding protein represses splicing of a fibroblast growth factor receptor-2 gene alternative exon through exon sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Purification and complementary DNA cloning of a receptor for basic fibroblast growth factor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Fgf8 signalling from the AER is essential for normal limb development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Coordination of chondrogenesis and osteogenesis by fibroblast growth factor 18

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

The roles of FGFs in the early development of vertebrate limbs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Fgf-10 is required for both limb and lung development and exhibits striking functional similarity to Drosophila branchless

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Structure of the FGF receptor tyrosine kinase domain reveals a novel autoinhibitory mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Fgf8 is required for outgrowth and patterning of the limbs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Molecular diagnosis of bilateral coronal synostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Constitutive activation of fibroblast growth factor receptor-2 by a point mutation associated with Crouzon syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

FGF-4 and BMP-2 have opposite effects on limb growth.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

FGF18 is required for normal cell proliferation and differentiation during osteogenesis and chondrogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

An additional limb can be induced from the flank of the chick embryo by FGF4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Genotype-phenotype correlation for nucleotide substitutions in the IgII- IgIII linker of FGFR2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

FGFs, heparan sulfate and FGFRs: complex interactions essential for development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Fibroblast growth factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Receptor specificity of the fibroblast growth factor family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Opposite phenotypes of hypomorphic and Y766 phosphorylation site mutations reveal a function for Fgfr1 in anteroposterior patterning of mouse embryos

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Crystal structure of fibroblast growth factor receptor ectodomain bound to ligand and heparin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Dominant erbliche Akrocephalosyndaktylie

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Structural basis for FGF receptor dimerization and activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Crystal structures of two FGF-FGFR complexes reveal the determinants of ligand-receptor specificity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Effect of transmembrane and kinase domain mutations on fibroblast growth factor receptor 3 chimera signaling in PC12 cells. A model for the control of receptor tyrosine kinase activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Genotype and phenotype in hypochondroplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Fibroblast growth factor receptor 2-IIIb acts upstream of Shh and Fgf4 and is required for limb bud maintenance but not for the induction of Fgf8, Fgf10, Msx1, or Bmp4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Craniosynostosis, Philadelphia type: a new autosomal dominant syndrome with sagittal craniosynostosis and syndactyly of the fingers and toes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Fgf10 is essential for limb and lung formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Structural interactions of fibroblast growth factor receptor with its ligands

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Conditional inactivation of Fgf4 reveals complexity of signalling during limb bud development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Vertebrate limb development--the early stages in chick and mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Characterization of a novel protein (FGFRL1) from human cartilage related to FGF receptors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Craniosynostosis: genes and mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Fibroblast growth factor receptors (FGFRs) and their roles in limb development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Genomic structure, sequence, and mapping of humanFGF8 with no evidence for its role in craniosynostosis/limb defect syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Uncoupling fibroblast growth factor receptor 2 ligand binding specificity leads to Apert syndrome-like phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10775

21 January 2018

Identifiers

DOI

10.1002/AJMG.10775

1 reference

5 August 2017

1 reference