Phenotype profile of a genetic mouse model for Muenke syndrome (Q34041540)

30 July 2017

Phenotype profile of a genetic mouse model for Muenke syndrome (English)

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30 July 2017

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5

Maximilian Muenke

1 reference

30 July 2017

Hyun-Duck Nah

1

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30 July 2017

Eiki Koyama

series ordinal

2

1 reference

30 July 2017

Nneamaka B Agochukwu

series ordinal

3

1 reference

30 July 2017

Scott P Bartlett

series ordinal

4

1 reference

30 July 2017

8 August 2012

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30 July 2017

Child's Nervous System

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30 July 2017

28

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30 July 2017

9

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30 July 2017

1483-1493

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https://scigraph.springernature.com/pub.10.1007/s00381-012-1778-9

30 July 2017

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cites work

Palatal and oral manifestations of Muenke syndrome (FGFR3-related craniosynostosis).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131982

Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131982

Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131982

Critical roles of the TGF-beta type I receptor ALK5 in perichondrial formation and function, cartilage integrity, and osteoblast differentiation during growth plate development

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131982

FGF9 monomer-dimer equilibrium regulates extracellular matrix affinity and tissue diffusion

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131982

Inner ear anomalies and conductive hearing loss in children with Apert syndrome: an overlooked otologic aspect

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131982

Fibroblast growth factor inhibits interferon gamma-STAT1 and interleukin 6-STAT3 signaling in chondrocytes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131982

FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131982

Hearing loss in a mouse model of Muenke 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=4131982

Development and tissue origins of the mammalian cranial base.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131982

The natural history of patients treated for FGFR3-associated (Muenke-type) craniosynostosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131982

Craniofacial morphology in Muenke 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=4131982

Constitutive activation of MKK6 in chondrocytes of transgenic mice inhibits proliferation and delays endochondral bone formation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131982

Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131982

Sprouty2, a mouse deafness gene, regulates cell fate decisions in the auditory sensory epithelium by antagonizing FGF signaling

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131982

Effects of FGF-2/-9 in calvarial bone cell cultures: differentiation stage-dependent mitogenic effect, inverse regulation of BMP-2 and noggin, and enhancement of osteogenic potential

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131982

Fibroblast growth factor signaling regulates pillar cell development in the organ of corti

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131982

The expression of fibroblast growth factors and their receptors in the embryonic and neonatal mouse inner ear.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131982

Craniosynostosis and related limb anomalies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131982

A Ser(365)-->Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe 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=4131982

Up-regulation of the chondrogenic Sox9 gene by fibroblast growth factors is mediated by the mitogen-activated protein kinase pathway

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131982

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131982

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131982

Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131982

Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131982

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=4131982

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=4131982

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=4131982

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131982

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=4131982

Fibroblast-growth-factor receptor mutations in human skeletal disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131982

Achondroplasia is defined by recurrent G380R mutations of FGFR3

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131982

Suture closure in the human chondrocranium: CT assessment

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131982

Fibroblast growth factor receptor (FGFR) 3. Alternative splicing in immunoglobulin-like domain III creates a receptor highly specific for acidic FGF/FGF-1.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131982

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

5 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00381-012-1778-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00381-012-1778-9

A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00381-012-1778-9

Additional phenotypic features of Muenke syndrome in 2 Dutch families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00381-012-1778-9

Audiological profile of children and young adults with syndromic and complex craniosynostosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00381-012-1778-9

Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00381-012-1778-9

Significant phenotypic variability of Muenke syndrome in identical twins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00381-012-1778-9

Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00381-012-1778-9

Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00381-012-1778-9

Fgf8 induces pillar cell fate and regulates cellular patterning in the mammalian cochlea.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00381-012-1778-9

The Muenke syndrome mutation (FgfR3P244R) causes cranial base shortening associated with growth plate dysfunction and premature perichondrial ossification in murine basicranial synchondroses

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00381-012-1778-9

Interaction of FGF, Ihh/Pthlh, and BMP signaling integrates chondrocyte proliferation and hypertrophic differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00381-012-1778-9

Fgfr mRNA isoforms in craniofacial bone development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00381-012-1778-9

Craniofacial growth in patients with FGFR3Pro250Arg mutation after fronto-orbital advancement in infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00381-012-1778-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00381-012-1778-9

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00381-012-1778-9

FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00381-012-1778-9

Skeletal analysis of the Fgfr3(P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00381-012-1778-9

Muenke syndrome mutation, FgfR3P²⁴⁴R, causes TMJ defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00381-012-1778-9

A distinct autosomal dominant craniosynostosis-brachydactyly syndrome

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131982

High-resolution CT findings in the development of the sphenooccipital synchondrosis

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22872265

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00381-012-1778-9

1 reference

Dimensions Publication ID

30 July 2017

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1 reference

30 July 2017

1 reference