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Search results 1601 to 1619 out of 1619 for Myo7a

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0.008s

Type

Details

Score

Protein Domain

IPR037602 | USH1G_SAM

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

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Publication

35962067 | J:345076

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

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Strain

MGI:3622653 | STOCK a/a Oca2<p-7R> Myo7a<sh1-6R>/In(7)4Rl +/R

Attribute String:

radiation induced mutation, inversion, mutant stock, chromosome aberration, chemically induced mutation

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Publication

21709241 | J:174394

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

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Publication

11138009 | J:66740

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

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Publication

19457086 | J:150858

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

24259566 | J:204163

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

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Publication

9070921 | J:38566

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

29167268 | J:256072

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

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Publication

29361540 | J:257650

First Author:	Liu Y
Year:	2018
Journal:	J Cell Sci
Title:	Unconventional myosin VIIA promotes melanoma progression.
Volume:	131
Issue:	4

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Publication

33400922 | J:315709

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

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Publication

21311020 | -

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

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Publication

23457544 | J:197180

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

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Publication

- | J:350897

First Author:	Chang B
Year:	2024
Journal:	MGI Direct Data Submission
Title:	The retinal cone dysfunction mutation.

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Publication

9171833 | J:40770

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

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Protein

Q80T11

Organism:	Mus musculus/domesticus
Length:	461
Fragment?:	false

•

Protein

Q0VBT9

Organism:	Mus musculus/domesticus
Length:	461
Fragment?:	false

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