Unconventional myosins and the genetics of hearing loss (Q33855126)

29 July 2017

1 reference

title

Unconventional myosins and the genetics of hearing loss (English)

1 reference

29 July 2017

1 reference

Friedman TB

1

1 reference

PubMed ID

10704189

29 July 2017

Sellers JR

series ordinal

2

1 reference

PubMed ID

10704189

29 July 2017

Avraham KB

series ordinal

3

1 reference

29 July 2017

1 September 1999

1 reference

American Journal of Medical Genetics Part A

29 July 2017

1 reference

29 July 2017

89

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29 July 2017

3

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29 July 2017

147-157

1 reference

Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins

29 July 2017

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

A family of unconventional myosins from the nematode Caenorhabditis elegans

21 January 2018

1 reference

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Myosins: matching functions with motors

21 January 2018

1 reference

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Good genes in bad neighbourhoods.

21 January 2018

1 reference

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Usher syndrome: definition and estimate of prevalence from two high-risk populations

21 January 2018

1 reference

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The localization of myosin VI at the golgi complex and leading edge of fibroblasts and its phosphorylation and recruitment into membrane ruffles of A431 cells after growth factor stimulation

21 January 2018

1 reference

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A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21.

21 January 2018

1 reference

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Modifying preselected sites on proteins: the stretch of residues 633-642 of the myosin heavy chain is part of the actin-binding site

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane

21 January 2018

1 reference

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Conservation within the myosin motor domain: implications for structure and function

21 January 2018

1 reference

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Crystal structure of a vertebrate smooth muscle myosin motor domain and its complex with the essential light chain: visualization of the pre-power stroke state

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

Ala397Asp mutation of myosin VIIA gene segregating in a Spanish family with type-Ib Usher syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

X-ray structures of the myosin motor domain of Dictyostelium discoideum complexed with MgADP.BeFx and MgADP.AlF4-

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

Transplacental uptake of glucose is decreased in embryonic lethal connexin26-deficient mice

21 January 2018

1 reference

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A type VII myosin encoded by the mouse deafness gene shaker-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

Making sense out of sound.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

Unconventional myosins in inner-ear sensory epithelia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

Porcine myosin-VI: characterization of a new mammalian unconventional myosin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

The swinging lever-arm hypothesis of muscle contraction.

21 January 2018

1 reference

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Atomic structure of scallop myosin subfragment S1 complexed with MgADP: a novel conformation of the myosin head

21 January 2018

1 reference

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Direct interaction of microtubule- and actin-based transport motors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

Pulling springs to tune transduction: adaptation by hair cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

A gene for Usher syndrome type I (USH1A) maps to chromosome 14q

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

An unconventional myosin heavy chain gene from Drosophila melanogaster

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

The mouse short ear skeletal morphogenesis locus is associated with defects in a bone morphogenetic member of the TGF beta superfamily

21 January 2018

1 reference

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A class VI unconventional myosin is associated with a homologue of a microtubule-binding protein, cytoplasmic linker protein-170, in neurons and at the posterior pole of Drosophila embryos

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

Mutation analysis of the mouse myosin VIIA deafness gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

Transport of cytoplasmic particles catalysed by an unconventional myosin in living Drosophila embryos

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

The 95F unconventional myosin is required for proper organization of the Drosophila syncytial blastoderm

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

Unconventional myosins in cell movement, membrane traffic, and signal transduction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

Structure of the actin-myosin complex and its implications for muscle contraction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

Three-dimensional structure of myosin subfragment-1: a molecular motor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

Role of myosin VI in the differentiation of cochlear hair cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

How molecular motors work

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

Coming to grips with a multitude of myosins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

Usher's syndrome--deafness and progressive blindness. Clinical cases, prevention, theory and literature survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

Defective myosin VIIA gene responsible for Usher syndrome type 1B

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990924%2989%3A3%3C147%3A%3AAID-AJMG5%3E3.0.CO%3B2-6

10.1002/(SICI)1096-8628(19990924)89:3<147::AID-AJMG5>3.0.CO;2-6

21 January 2018

Identifiers

DOI

1 reference

29 July 2017

1 reference

PubMed ID

10704189