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Myosin VIIA

myosin VIIa, MYO7A, USH1B
This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: HAIR, CAN, Actin, HAD, CDH23
Papers using myosin VIIa antibodies
Water channels (aquaporins) and their role for postnatal adaptation
Ishiyama Akira et al., In Cell and Tissue Research, 2004
... affinity purified antibodies against NKCC1 (1:1000, ADI, Texas), α-syntrophin (1:1000, Abcam, Cambridge, Mass., USA), and myosin VIIa (1:500, Abcam).
Papers on myosin VIIa
Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families.
Epplen et al., Bochum, Germany. In Invest Ophthalmol Vis Sci, Jan 2016
p.Glu555Glyfs*14) and a recently described USH1-causing missense mutation in MYO7A (c.472G>A, p.Gly158Arg).
Effects of different combinations of growth factors on the differentiation of neural stem cells into hair-like cells.
Dong et al., Zhengzhou, China. In Ear Nose Throat J, Oct 2015
Myosin VIIa-positive cells were detected to compare the effects of various combinations of growth factors on the differentiation of NSCs into hair-like cells.
A Founder Mutation in MYO7A Underlies a Significant Proportion of Usher Syndrome in Indigenous South Africans: Implications for the African Diaspora.
Ramesar et al., In Invest Ophthalmol Vis Sci, Oct 2015
Recently, however, data from our translational research program showed two unrelated indigenous African families with Usher syndrome (USH), with the same homozygous MYO7A mutation.
Gene Therapy for the Retinal Degeneration of Usher Syndrome Caused by Mutations in MYO7A.
Williams et al., Los Angeles, United States. In Cold Spring Harb Perspect Med, Jun 2015
One of the subtypes, Usher 1B, is caused by loss of function of the gene encoding the unconventional myosin, MYO7A.
Novel grading system for quantification of cystic macular lesions in Usher syndrome.
Sahel et al., Paris, France. In Orphanet J Rare Dis, 2014
RESULTS: CML were observed in 37 % of USH eyes, while 45 % were observed in MYO7A and 29 % in USH2A cases.
Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.
Ozkinay et al., İzmir, Turkey. In Plos One, 2014
Remaining 14 families had 15 different variants in other known NSHL genes (MYO7A, MYO15A, MARVELD2, TMIE, DFNB31, LOXHD1, GPSM2, TMC1, USH1G, CDH23).
Genetic predisposition to calcific aortic stenosis and mitral annular calcification.
Barbarash et al., Kemerovo, Russia. In Mol Biol Rep, 2014
A number of other polymorphisms, such as PvuII polymorphism within the ORα gene, rs1042636 polymorphism within the CaSR gene, rs3024491, rs3021094, rs1554286, and rs3024498 polymorphisms within the IL10 gene, rs662 polymorphism within the PON1 gene, rs2276288 polymorphism within the MYO7A gene, rs5194 polymorphism within the AGTR1 gene, rs2071307 polymorphism within the ELN gene, rs17659543 and rs13415097 polymorphisms within the IL1F9 gene may correlate with a risk of calcific valve stenosis with moderate level of evidence.
Genetics of dizziness: cerebellar and vestibular disorders.
Lopez-Escamez et al., Almería, Spain. In Curr Opin Neurol, 2014
Moreover, new variants in genes such as COCH, MYO7A and POU4F3 are associated with nonsyndromic deafness and vestibular dysfunction.
Assessment of different virus-mediated approaches for retinal gene therapy of Usher 1B.
Williams et al., Los Angeles, United States. In Adv Exp Med Biol, 2013
Usher syndrome type 1B, which is characterized by congenital deafness and progressive retinal degeneration, is caused by the loss of the function of MYO7A.
An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations.
van Ijzendoorn et al., Groningen, Netherlands. In Hum Mutat, 2013
MVID is associated with patient-, family-, and ancestry-unique mutations in the MYO5B gene, encoding the actin-based motor protein myosin Vb.
Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes.
Gillespie et al., Cleveland, United States. In Hum Mol Genet, 2012
the importance of MYO7A for the development and maintenance of bundle function
Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.
Chen et al., Houston, United States. In Hum Mutat, 2011
in a set of consanguineous patient families with Leber congenital amaurosis study identified five putative disease-causing mutations, including four novel alleles, in six families; These five mutations are located in four genes, ALMS1, IQCB1, CNGA3, and MYO7A
Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I.
MacDonald et al., Beijing, China. In Mol Vis, 2011
A previously reported mutation (c.52C>T; p.Q18X) in the myosin VIIA (MYO7A) gene was found in the homozygous state in the affected siblings.
Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo.
Zhang et al., Hong Kong, Hong Kong. In Science, 2011
crystal structure of MYO7A MyTH4-FERM domains in complex with the central domain (CEN) of Sans at 2.8 angstrom resolution; MyTH4-FERM/CEN complex structure provides mechanistic explanations for known deafness-causing mutations in MYO7A MyTH4-FERM
Retinal disease course in Usher syndrome 1B due to MYO7A mutations.
Williams et al., Philadelphia, United States. In Invest Ophthalmol Vis Sci, 2010
The authors speculate that null MYO7A alleles could be associated with milder dysfunction and fewer photoreceptor structural losses at ages when other genotypes show more severe phenotypes.
Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1.
Ben-Yosef et al., Haifa, Israel. In Mol Vis, 2010
Pathogenic mutations in MYO7A, USH1C, and USH1G have been found in four consanguineous Israeli Arab families with Usher syndrome type 1.
Drosophila Rho-associated kinase (Drok) links Frizzled-mediated planar cell polarity signaling to the actin cytoskeleton.
Luo et al., Stanford, United States. In Cell, 2001
Drosophila myosin VIIA, the homolog of the human Usher Syndrome 1B gene, also functions in conjunction with this newly defined portion of the Fz/Dsh signaling pathway to regulate the actin cytoskeleton.
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.
Kubisch et al., Hamburg, Germany. In Nat Genet, 2001
So far, six loci (USH1A-USH1F) have been mapped, but only two USH1 genes have been identified: MYO7A for USH1B and the gene encoding harmonin for USH1C.
Dominant modifier DFNM1 suppresses recessive deafness DFNB26.
Wilcox et al., Rockville, United States. In Nat Genet, 2000
So far, 30 nonsyndromic recessive deafness loci have been mapped and the defective genes at 6 loci, DFNB1, DFNB2, DFNB3, DFNB4, DFNB9 and DNFB21, have been identified, encoding connexin-26 (ref.
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.
Petit et al., Paris, France. In Nat Genet, 2000
So far, only MYO7A (USH1B), encoding myosin VIIA, has been identified as a gene whose mutation causes the disease.
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