Inner ear morphology is perturbed in two novel mouse models of recessive deafness.

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Inner ear morphology is perturbed in two novel mouse models of recessive deafness. is …
instance of (P31):
scholarly articleQ13442814

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P819ADS bibcode2012PLoSO...751284M
P356DOI10.1371/JOURNAL.PONE.0051284
P932PMC publication ID3520982
P698PubMed publication ID23251483
P5875ResearchGate publication ID233950122

P50authorKerry MillerQ79313697
P2093author name stringHans-Henrik M Dahl
Michael Kuiper
Elizabeth Rose
Shehnaaz S M Manji
Louise H Williams
P2860cites workDefective myosin VIIA gene responsible for Usher syndrome type 1BQ24314638
Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundleQ24337137
Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1BQ24562934
The human genome browser at UCSCQ24672361
Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cellsQ24673776
Myosin VIIA mutation screening in 189 Usher syndrome type 1 patientsQ24675621
Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargoQ27666702
VMD: visual molecular dynamicsQ27860554
Scalable molecular dynamics with NAMDQ27860718
Update on Usher syndromeQ37376202
Genetic epidemiology of hearing impairmentQ37519270
Principles of unconventional myosin function and targetingQ37884613
Accounting for human polymorphisms predicted to affect protein functionQ39753550
Molecular characterization and expression of maternally expressed gene 3 (Meg3/Gtl2) RNA in the mouse inner ear.Q40341197
Genes responsible for human hereditary deafness: symphony of a thousandQ41244075
Mouse models of human disease. Part I: techniques and resources for genetic analysis in miceQ41318714
Morphological changes of cochlea in a strain of new-mutant miceQ42475948
Phenotype-driven mouse ENU mutagenesis screensQ42941344
Phenotype of DFNA11: a nonsyndromic hearing loss caused by a myosin VIIA mutationQ43914098
Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).Q47280348
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual functionQ50453784
Recognition of genes in DNA sequence with ambiguities.Q52405338
Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type IQ74127074
The myosin power strokeQ28216645
Mutations in the myosin VIIA gene cause non-syndromic recessive deafnessQ28239749
The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA geneQ28239757
Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA geneQ28253373
Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1BQ28294301
Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IBQ28301792
Ultrastructural findings in the inner ear of Jackson shaker miceQ28507373
A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairmentQ28508053
A type VII myosin encoded by the mouse deafness gene shaker-1Q28512902
Reduced climbing and increased slipping adaptation in cochlear hair cells of mice with Myo7a mutationsQ28586011
Mutation analysis of the mouse myosin VIIA deafness geneQ28592197
Physical and functional interaction between protocadherin 15 and myosin VIIa in mechanosensory hair cellsQ28592402
Mutations in a new scaffold protein Sans cause deafness in Jackson shaker miceQ28592537
Human non-synonymous SNPs: server and surveyQ29547603
A mutation in synaptojanin 2 causes progressive hearing loss in the ENU-mutagenised mouse strain Mozart.Q30476286
A novel allele of myosin VIIa reveals a critical function for the C-terminal FERM domain for melanosome transport in retinal pigment epithelial cellsQ30481050
Mosaic complementation demonstrates a regulatory role for myosin VIIa in actin dynamics of stereociliaQ30481360
Function and expression pattern of nonsyndromic deafness genesQ30482629
Pendred syndromeQ30495369
Cargo binding activates myosin VIIA motor function in cellsQ30499937
Cryoembedding and sectioning of cochleas for immunocytochemistry and in situ hybridizationQ32062967
The usher syndromesQ33855131
The societal costs of severe to profound hearing loss in the United StatesQ34130013
The molecular genetics of Usher syndromeQ34202837
Molecular genetics of hearing lossQ34432273
Mouse models for human deafness: current tools for new fashionsQ34838323
An ENU-induced mutation of Cdh23 causes congenital hearing loss, but no vestibular dysfunction, in miceQ35167785
Mouse models for deafness: lessons for the human inner ear and hearing lossQ35201425
Human Nonsyndromic Sensorineural DeafnessQ35550640
ENU mutagenesis in the mouse: application to human genetic diseaseQ35828969
Molecular genetics of non-syndromic deafnessQ36382019
The use of genomewide ENU mutagenesis screens to unravel complex mammalian traits: identifying genes that regulate organ-specific and systemic autoimmunity.Q36453343
MYO7A mutation screening in Usher syndrome type I patients from diverse originsQ37004704
ENU mutagenesis, a way forward to understand gene functionQ37307784
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue12
P407language of work or nameEnglishQ1860
P921main subjectdeafnessQ12133
P304page(s)e51284
P577publication date2012-12-12
P1433published inPLOS OneQ564954
P1476titleInner ear morphology is perturbed in two novel mouse models of recessive deafness
P478volume7

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cites work (P2860)
Q91866889A Novel Mouse Model of MYO7A USH1B Reveals Auditory and Visual System Haploinsufficiencies
Q34447196Comparative analysis of the domestic cat genome reveals genetic signatures underlying feline biology and domestication
Q35004931Eeyore: a novel mouse model of hereditary deafness

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