Hearing loss in a mouse model of Muenke syndrome (Q30486079)

18 August 2017

Hearing loss in a mouse model of Muenke syndrome (English)

1 reference

Andrew Oliver Mungo Wilkie

18 August 2017

1 reference

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6

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PubMed publication ID

22 June 2017

2

Stephen R F Twigg

1 reference

18 August 2017

Suzanne L Mansour

1

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author name string

Rowena M Freeland

3

1 reference

18 August 2017

Steven A Wall

4

1 reference

18 August 2017

Chaoying Li

5

1 reference

18 August 2017

25 September 2008

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18 August 2017

Human Molecular Genetics

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18 August 2017

18

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18 August 2017

1

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18 August 2017

43-50

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Fgf16(IRESCre) mice: a tool to inactivate genes expressed in inner ear cristae and spiral prominence epithelium.

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644644

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644644

Differential requirements for FGF3, FGF8 and FGF10 during inner ear development

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644644

Disruption of fibroblast growth factor receptor 3 signaling results in defects in cellular differentiation, neuronal patterning, and hearing impairment

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644644

Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644644

Loss of Fgfr3 leads to excess hair cell development in the mouse organ of Corti

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644644

Regulation of cell fate in the sensory epithelia of the inner ear.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644644

A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644644

The auditory sensory epithelium: the instrument of sound perception

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644644

Sprouty proteins: multifaceted negative-feedback regulators of receptor tyrosine kinase signaling.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644644

Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644644

Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644644

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644644

Evolution of the Fgf and Fgfr gene families

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644644

Fgf9 signaling regulates inner ear morphogenesis through epithelial-mesenchymal interactions

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644644

Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644644

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644644

FGFR1 is required for the development of the auditory sensory epithelium

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644644

FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644644

Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644644

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644644

Fgf8 is required for outgrowth and patterning of the limbs

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644644

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644644

Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644644

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644644

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644644

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644644

Audiological findings of patients with achondroplasia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644644

CT of the temporal bone in achondroplasia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644644

Expression and functions of FGF ligands during early otic development.

28 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN311

FGF signaling in ear development and innervation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN311

Fgf20 is required for sensory epithelial specification in the developing cochlea

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN311

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN311

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/10.1093%2FHMG%2FDDN311

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN311

Deafness due to Pro250Arg mutation of FGFR3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN311

Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN311

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/10.1093%2FHMG%2FDDN311

Receptor specificity of the fibroblast growth factor family. The complete mammalian FGF family

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN311

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/10.1093%2FHMG%2FDDN311

Strain background effects and genetic modifiers of hearing in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN311

Auditory brainstem responses in 10 inbred strains of mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN311

Hearing loss and temporal bone structure in achondroplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN311

Further characterization of the DFNA1 audiovestibular phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN311

Expression of ERK signaling inhibitors Dusp6, Dusp7, and Dusp9 during mouse ear development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN311

Dusp6 (Mkp3) is a negative feedback regulator of FGF-stimulated ERK signaling during mouse development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN311

Male-to-female sex reversal in mice lacking fibroblast growth factor 9

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18818193

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Processing and analyzing the mouse temporal bone to identify gross, cellular and subcellular pathology

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18818193

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDN311

1 reference

18 August 2017

1 reference

18 August 2017

PubMed publication ID

18818193

1 reference