Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation (Q33938586)

30 July 2017

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Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation (English)

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30 July 2017

main subject

osteoglophonic dwarfism

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Xijie Yu

8

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Michael J. Econs

object named as

Michael J Econs

15

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David M. Ornitz

object named as

David M Ornitz

14

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author name string

Kenneth E White

1

1 reference

30 July 2017

Jose M Cabral

2

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30 July 2017

Siobhan I Davis

3

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30 July 2017

Tonya Fishburn

4

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30 July 2017

Wayne E Evans

5

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30 July 2017

Shoji Ichikawa

6

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30 July 2017

Joanna Fields

7

1 reference

30 July 2017

Nick J Shaw

9

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30 July 2017

Neil J McLellan

10

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30 July 2017

Carole McKeown

11

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30 July 2017

David Fitzpatrick

12

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30 July 2017

Kai Yu

13

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30 July 2017

language of work or name

English

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publication date

28 December 2004

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American Journal of Human Genetics

30 July 2017

published in

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30 July 2017

volume

76

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30 July 2017

issue

2

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30 July 2017

page(s)

361-367

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FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196382

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196382

Fibroblast growth factors

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196382

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196382

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196382

Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196382

Activation of FGF receptors by mutations in the transmembrane domain

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196382

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196382

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196382

The rat osteocalcin fibroblast growth factor (FGF)-responsive element: an okadaic acid-sensitive, FGF-selective transcriptional response motif

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196382

Ligand-independent activation of fibroblast growth factor receptors by point mutations in the extracellular, transmembrane, and kinase domains

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196382

Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196382

Receptor specificity of the fibroblast growth factor family

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196382

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196382

Fibroblast growth factor receptor 3 is a negative regulator of bone growth

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196382

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196382

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196382

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196382

Receptor for acidic fibroblast growth factor is related to the tyrosine kinase encoded by the fms-like gene (FLG).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196382

Beare-Stevenson cutis gyrata syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196382

Two FGF receptor genes are differentially expressed in epithelial and mesenchymal tissues during limb formation and organogenesis in the mouse

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196382

Stat1 controls postnatal bone formation by regulating fibroblast growth factor signaling in osteoblasts

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196382

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196382

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196382

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196382

29 October 2018

Osteoglophonic dwarfism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196382

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

29 October 2018

1 reference

12 December 2020

Murine FGFR-1 is required for early postimplantation growth and axial organization

1 reference

12 December 2020

Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients

1 reference

12 December 2020

Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene

1 reference

12 December 2020

Identifiers

DOI

10.1086/427956

1 reference

30 July 2017

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30 July 2017

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