Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis (Q33902251)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10587515%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

title

Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10587515%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

main subject

cartilage development

1 reference

3

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2 November 2019

author name string

L Chen

1

1 reference

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2 November 2019

R Adar

2

1 reference

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2 November 2019

E O Monsonego

4

1 reference

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2 November 2019

C Li

5

1 reference

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2 November 2019

P V Hauschka

6

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2 November 2019

A Yayon

7

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2 November 2019

C X Deng

8

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2 November 2019

language of work or name

English

0 references

publication date

1 December 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10587515%20AND%20SRC:MED&resulttype=core&format=json

Journal of Clinical Investigation

2 November 2019

published in

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2 November 2019

volume

104

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2 November 2019

page(s)

1517-1525

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2 November 2019

issue

11

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FGF signaling inhibits chondrocyte proliferation and regulates bone development through the STAT-1 pathway

2 November 2019

cites work

1 reference

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A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3.

28 July 2018

1 reference

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A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors

28 July 2018

1 reference

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Repression of hedgehog signaling and BMP4 expression in growth plate cartilage by fibroblast growth factor receptor 3

28 July 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

28 July 2018

1 reference

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The tumor suppressor SMAD4/DPC4 is essential for epiblast proliferation and mesoderm induction in mice

28 July 2018

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28 July 2018

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28 July 2018

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28 July 2018

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Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism

28 July 2018

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28 July 2018

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Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras

28 July 2018

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28 July 2018

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PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth

28 July 2018

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Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein

28 July 2018

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Efficient in vivo manipulation of mouse genomic sequences at the zygote stage

28 July 2018

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Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3.

28 July 2018

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

28 July 2018

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Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia

28 July 2018

1 reference

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Abnormal bone growth and selective translational regulation in basic fibroblast growth factor (FGF-2) transgenic mice

28 July 2018

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28 July 2018

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Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene

28 July 2018

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

28 July 2018

1 reference

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28 July 2018

1 reference

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Chondrocyte differentiation

28 July 2018

1 reference

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Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.

28 July 2018

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28 July 2018

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Complexity of FGF receptors: genetic basis for structural diversity and functional specificity

28 July 2018

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Ligand specificity and heparin dependence of fibroblast growth factor receptors 1 and 3

28 July 2018

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Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine

28 July 2018

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Osteocalcin gene promoter: unlocking the secrets for regulation of osteoblast growth and differentiation.

28 July 2018

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Crouzon-like craniofacial dysmorphology in the mouse is caused by an insertional mutation at the Fgf3/Fgf4 locus.

29 October 2018

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Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts

29 October 2018

1 reference

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Location of crossovers during gene targeting with insertion and replacement vectors

29 October 2018

1 reference

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

29 October 2018

1 reference

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Alterations in the expression of osteonectin, osteopontin and osteocalcin mRNAs during the development of skeletal tissues in vivo

29 October 2018

1 reference

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

29 October 2018

1 reference

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=409856

Constitutive activation of fibroblast growth factor receptor-2 by a point mutation associated with Crouzon 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=409856

Craniofacial syndromes: no such thing as a single gene disease

29 October 2018

1 reference

12 December 2020

A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia

1 reference

12 December 2020

Cbfa1 in bone development

1 reference

12 December 2020

Osteopontin expression and function: role in bone remodeling

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI6690

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10587515%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10587515%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference