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

5 August 2017

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title

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

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Andrew Oliver Mungo Wilkie

5 August 2017

author

1

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5 August 2017

Susannah J Patey

2

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5 August 2017

Shih-Hsin Kan

3

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5 August 2017

Ans M W van den Ouweland

4

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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

published in

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5 August 2017

volume

112

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5 August 2017

issue

3

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5 August 2017

page(s)

266-278

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Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

5 August 2017

cites work

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

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

21 January 2018

Jackson-Weiss syndrome.

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Skeletal abnormalities in the Apert syndrome

21 January 2018

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Hands and feet in the Apert syndrome

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Medical complications of achondroplasia: a multicentre patient review

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Clinical variability in patients with Apert's syndrome

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

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Coordination of chondrogenesis and osteogenesis by fibroblast growth factor 18

21 January 2018

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The roles of FGFs in the early development of vertebrate limbs

21 January 2018

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

21 January 2018

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

21 January 2018

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Fgf8 is required for outgrowth and patterning of the limbs

21 January 2018

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

21 January 2018

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Molecular diagnosis of bilateral coronal synostosis

21 January 2018

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Constitutive Activation of Fibroblast Growth Factor Receptor-2 by a Point Mutation Associated with Crouzon Syndrome

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Fibroblast growth factors

21 January 2018

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Receptor specificity of the fibroblast growth factor family

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Dominant erbliche Akrocephalosyndaktylie

21 January 2018

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Structural basis for FGF receptor dimerization and activation

21 January 2018

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

21 January 2018

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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

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Genotype and phenotype in hypochondroplasia

21 January 2018

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

21 January 2018

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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

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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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome

21 January 2018

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Fgf10 is essential for limb and lung formation

21 January 2018

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Structural interactions of fibroblast growth factor receptor with its ligands

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia

21 January 2018

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Craniosynostosis: genes and mechanisms

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/AJMG.10775

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5 August 2017

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