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Search results 1601 to 1619 out of 1619 for Myo7a

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Type Details Score
Protein Domain
Type: Domain
Description: pre-mRNA splicing regulator USH1G (also known as SANS) is a multifunctional scaffold protein. It regulates Magi2-mediated endocytosis []and interacts with MYO7A and USH1C []. Mice lacking USH1G exhibit a loss of tip-links, defects in stereocilia morphology and organization, loss of mechanotransduction currents, and perturbations to hearing and balance []. Mutations in human USH1G gene cause Usher syndrome 1G (USH1G), a genetically heterogeneous condition characterised by the association of retinitis pigmentosa with sensorineural deafness []. USH1G has an N-terminal ankyrin repeat region and a C-terminal SAM domain []. The SAM domain is a putative protein-protein interaction domain.
Genotype
Symbol: Myo7a/Myo7a<4626SB>
Background: involves: BALB/c * 47BS/Rl * C3HeB/FeJ * CBA/Ca
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Hprt1/Hprt1<+> Myo7a<4626SB>/Myo7a<4626SB>
Background: involves: 129S7/SvEvBrd * BALB/cRl * C3H * C57BL/6J * CBA/Ca
Zygosity: cx
Has Mutant Allele: true
Publication
First Author: Ballesteros A
Year: 2022
Journal: Sci Rep
Title: Selective binding and transport of protocadherin 15 isoforms by stereocilia unconventional myosins in a heterologous expression system.
Volume: 12
Issue: 1
Pages: 13764
Strain
Attribute String: radiation induced mutation, inversion, mutant stock, chromosome aberration, chemically induced mutation
Publication
First Author: Grati M
Year: 2011
Journal: Proc Natl Acad Sci U S A
Title: Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction.
Volume: 108
Issue: 28
Pages: 11476-81
Publication
First Author: Bolz H
Year: 2001
Journal: Nat Genet
Title: Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.
Volume: 27
Issue: 1
Pages: 108-12
Publication
First Author: Fernández-Medarde A
Year: 2009
Journal: J Neurochem
Title: RasGRF1 disruption causes retinal photoreception defects and associated transcriptomic alterations.
Volume: 110
Issue: 2
Pages: 641-52
Publication
First Author: Gilels F
Year: 2013
Journal: J Neurosci
Title: Mutation of Foxo3 causes adult onset auditory neuropathy and alters cochlear synapse architecture in mice.
Volume: 33
Issue: 47
Pages: 18409-24
Publication
First Author: Kelley PM
Year: 1997
Journal: Genomics
Title: The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A).
Volume: 40
Issue: 1
Pages: 73-9
Publication
First Author: Xiong A
Year: 2018
Journal: J Biol Chem
Title: The shaker-1 mouse myosin VIIa deafness mutation results in a severely reduced rate of the ATP hydrolysis step.
Volume: 293
Issue: 3
Pages: 819-829
Publication  
First Author: Liu Y
Year: 2018
Journal: J Cell Sci
Title: Unconventional myosin VIIA promotes melanoma progression.
Volume: 131
Issue: 4
Publication
First Author: McGrath J
Year: 2021
Journal: Curr Biol
Title: Actin at stereocilia tips is regulated by mechanotransduction and ADF/cofilin.
Volume: 31
Issue: 6
Pages: 1141-1153.e7
Publication
First Author: Wu L
Year: 2011
Journal: Science
Title: Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo.
Volume: 331
Issue: 6018
Pages: 757-60
Publication
First Author: Buniello A
Year: 2013
Journal: PLoS One
Title: Headbobber: a combined morphogenetic and cochleosaccular mouse model to study 10qter deletions in human deafness.
Volume: 8
Issue: 2
Pages: e56274
Publication      
First Author: Chang B
Year: 2024
Journal: MGI Direct Data Submission
Title: The retinal cone dysfunction mutation.
Publication
First Author: Weil D
Year: 1997
Journal: Nat Genet
Title: The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene.
Volume: 16
Issue: 2
Pages: 191-3
Protein
Organism: Mus musculus/domesticus
Length: 461  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 461  
Fragment?: false