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Article

Muenke syndrome mutation, FgfR3P²⁴⁴R, causes TMJ defects.

Journal of dental research - 1 Jul 2012

Yasuda T, Nah H D, Laurita J, Kinumatsu T, Shibukawa Y, Shibutani T, Minugh-Purvis N, Pacifici M, Koyama E

Abstract excerpt

Muenke syndrome is characterized by various craniofacial deformities and is caused by an autosomal-dominant activating mutation in fibroblast growth factor receptor 3 (FGFR3(P250R) ). Here, using mice carrying a corresponding mutation (FgfR3(P244R) ), we determined whether the mutation affects temporomandibular joint (TMJ) development and growth. In situ hybridization showed that FgfR3...

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Source

Open in PubMed Open full text

Identifiers

PMID: 22622662
DOI: 10.1177/0022034512449170
PMCID: PMC3383850

Genes

FGF2
FGF9
FGFR3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Muenke syndrome mutation, FgfR3P²⁴⁴R, causes TMJ defects.PMID 22622662Read ↗

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

A Ser365->Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasiaSemantic proximity Read ↗

Phenotype profile of a genetic mouse model for Muenke syndrome.Semantic proximity Read ↗

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Hearing loss in a mouse model of Muenke syndromeSemantic proximity Read ↗

Indian hedgehog in craniofacial neural crest cells links to skeletal malocclusion by regulating associated cartilage formation and gene expression.Semantic proximity Read ↗

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Parathyroid hormone receptor type 1/Indian hedgehog expression is preserved in the growth plate of human fetuses affected with fibroblast growth factor receptor type 3 activating mutations.Semantic proximity Read ↗

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

Signalling by fibroblast growth factor receptor 3 and parathyroid hormone-related peptide coordinate cartilage and bone development.Semantic proximity Read ↗

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