scholarly article | Q13442814 |
P819 | ADS bibcode | 2012PLoSO...751284M |
P356 | DOI | 10.1371/JOURNAL.PONE.0051284 |
P932 | PMC publication ID | 3520982 |
P698 | PubMed publication ID | 23251483 |
P5875 | ResearchGate publication ID | 233950122 |
P50 | author | Kerry Miller | Q79313697 |
P2093 | author name string | Hans-Henrik M Dahl | |
Michael Kuiper | |||
Elizabeth Rose | |||
Shehnaaz S M Manji | |||
Louise H Williams | |||
P2860 | cites work | Defective myosin VIIA gene responsible for Usher syndrome type 1B | Q24314638 |
Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle | Q24337137 | ||
Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B | Q24562934 | ||
The human genome browser at UCSC | Q24672361 | ||
Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells | Q24673776 | ||
Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients | Q24675621 | ||
Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo | Q27666702 | ||
VMD: visual molecular dynamics | Q27860554 | ||
Scalable molecular dynamics with NAMD | Q27860718 | ||
Update on Usher syndrome | Q37376202 | ||
Genetic epidemiology of hearing impairment | Q37519270 | ||
Principles of unconventional myosin function and targeting | Q37884613 | ||
Accounting for human polymorphisms predicted to affect protein function | Q39753550 | ||
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 thousand | Q41244075 | ||
Mouse models of human disease. Part I: techniques and resources for genetic analysis in mice | Q41318714 | ||
Morphological changes of cochlea in a strain of new-mutant mice | Q42475948 | ||
Phenotype-driven mouse ENU mutagenesis screens | Q42941344 | ||
Phenotype of DFNA11: a nonsyndromic hearing loss caused by a myosin VIIA mutation | Q43914098 | ||
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 function | Q50453784 | ||
Recognition of genes in DNA sequence with ambiguities. | Q52405338 | ||
Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I | Q74127074 | ||
The myosin power stroke | Q28216645 | ||
Mutations in the myosin VIIA gene cause non-syndromic recessive deafness | Q28239749 | ||
The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene | Q28239757 | ||
Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene | Q28253373 | ||
Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B | Q28294301 | ||
Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB | Q28301792 | ||
Ultrastructural findings in the inner ear of Jackson shaker mice | Q28507373 | ||
A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment | Q28508053 | ||
A type VII myosin encoded by the mouse deafness gene shaker-1 | Q28512902 | ||
Reduced climbing and increased slipping adaptation in cochlear hair cells of mice with Myo7a mutations | Q28586011 | ||
Mutation analysis of the mouse myosin VIIA deafness gene | Q28592197 | ||
Physical and functional interaction between protocadherin 15 and myosin VIIa in mechanosensory hair cells | Q28592402 | ||
Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice | Q28592537 | ||
Human non-synonymous SNPs: server and survey | Q29547603 | ||
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 cells | Q30481050 | ||
Mosaic complementation demonstrates a regulatory role for myosin VIIa in actin dynamics of stereocilia | Q30481360 | ||
Function and expression pattern of nonsyndromic deafness genes | Q30482629 | ||
Pendred syndrome | Q30495369 | ||
Cargo binding activates myosin VIIA motor function in cells | Q30499937 | ||
Cryoembedding and sectioning of cochleas for immunocytochemistry and in situ hybridization | Q32062967 | ||
The usher syndromes | Q33855131 | ||
The societal costs of severe to profound hearing loss in the United States | Q34130013 | ||
The molecular genetics of Usher syndrome | Q34202837 | ||
Molecular genetics of hearing loss | Q34432273 | ||
Mouse models for human deafness: current tools for new fashions | Q34838323 | ||
An ENU-induced mutation of Cdh23 causes congenital hearing loss, but no vestibular dysfunction, in mice | Q35167785 | ||
Mouse models for deafness: lessons for the human inner ear and hearing loss | Q35201425 | ||
Human Nonsyndromic Sensorineural Deafness | Q35550640 | ||
ENU mutagenesis in the mouse: application to human genetic disease | Q35828969 | ||
Molecular genetics of non-syndromic deafness | Q36382019 | ||
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 origins | Q37004704 | ||
ENU mutagenesis, a way forward to understand gene function | Q37307784 | ||
P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
P6216 | copyright status | copyrighted | Q50423863 |
P433 | issue | 12 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | deafness | Q12133 |
P304 | page(s) | e51284 | |
P577 | publication date | 2012-12-12 | |
P1433 | published in | PLOS One | Q564954 |
P1476 | title | Inner ear morphology is perturbed in two novel mouse models of recessive deafness | |
P478 | volume | 7 |
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Q35004931 | Eeyore: a novel mouse model of hereditary deafness |
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