(Q35687907)

9 August 2017

title

Retinal disease course in Usher syndrome 1B due to MYO7A mutations (English)

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9 August 2017

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Heidi L Rehm

13

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Samuel G. Jacobson

object named as

Samuel G Jacobson

1

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author name string

Artur V Cideciyan

2

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9 August 2017

Dan Gibbs

3

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9 August 2017

Alexander Sumaroka

4

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9 August 2017

Alejandro J Roman

5

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9 August 2017

Tomas S Aleman

6

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9 August 2017

Sharon B Schwartz

7

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9 August 2017

Melani B Olivares

8

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9 August 2017

Robert C Russell

9

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9 August 2017

Janet D Steinberg

10

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9 August 2017

Margaret A Kenna

11

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9 August 2017

William J Kimberling

12

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9 August 2017

David S Williams

14

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9 August 2017

language of work or name

English

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publication date

7 October 2011

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Investigative Ophthalmology Visual Science

9 August 2017

published in

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9 August 2017

volume

52

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9 August 2017

issue

11

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9 August 2017

page(s)

7924-7936

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The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65

9 August 2017

cites work

1 reference

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Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo

27 July 2018

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27 July 2018

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Probing mechanisms of photoreceptor degeneration in a new mouse model of the common form of autosomal dominant retinitis pigmentosa due to P23H opsin mutations

27 July 2018

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Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss

27 July 2018

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PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

27 July 2018

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Genetics and pathological mechanisms of Usher syndrome

27 July 2018

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Deafness and retinal degeneration in a novel USH1C knock-in mouse model

27 July 2018

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AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

27 July 2018

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A novel allele of myosin VIIa reveals a critical function for the C-terminal FERM domain for melanosome transport in retinal pigment epithelial cells

27 July 2018

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Normal central retinal function and structure preserved in retinitis pigmentosa.

27 July 2018

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A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

27 July 2018

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Harmonin in the murine retina and the retinal phenotypes of Ush1c-mutant mice and human USH1C.

27 July 2018

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A FERM domain autoregulates Drosophila myosin 7a activity

27 July 2018

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27 July 2018

Update on Usher syndrome

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Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations

27 July 2018

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Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

27 July 2018

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Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism

27 July 2018

1 reference

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Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations

27 July 2018

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Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy

27 July 2018

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A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells

27 July 2018

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Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B.

27 July 2018

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Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263772

Three myosin V structures delineate essential features of chemo-mechanical transduction

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263772

A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263772

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

27 July 2018

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27 July 2018

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Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man.

27 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263772

Myosin VIIa participates in opsin transport through the photoreceptor cilium

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263772

Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263772

Null mutation in the rhodopsin kinase gene slows recovery kinetics of rod and cone phototransduction in man

27 July 2018

1 reference

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Improved splice site detection in Genie

27 July 2018

1 reference

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Night blindness in Sorsby's fundus dystrophy reversed by vitamin A

27 July 2018

1 reference

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Human photoreceptor topography

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263772

Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263772

Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263772

Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263772

Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263772

Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263772

Kinetics of visual field loss in Usher syndrome Type II.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263772

Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263772

Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263772

Usher syndrome clinical types I and II: could ocular symptoms and signs differentiate between the two types?

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263772

Phenotypic marker for early disease detection in dominant late-onset retinal degeneration.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263772

A one-hit model of cell death in inherited neuronal degenerations

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263772

Mutation analysis of the mouse myosin VIIA deafness gene

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263772

Visual acuity and visual field impairment in Usher syndrome.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263772

Usher's syndrome. Ophthalmic and neuro-otologic findings suggesting genetic heterogeneity

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263772

Interocular asymmetry of visual function in heterozygotes of X-linked retinitis pigmentosa

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263772

Visual acuity loss in patients with Usher's syndrome

25 September 2018

1 reference

12 December 2020

Rod plateaux during dark adaptation in Sorsby's fundus dystrophy and vitamin A deficiency

1 reference

12 December 2020

Yearly rates of rod and cone functional loss in retinitis pigmentosa and cone-rod dystrophy

1 reference

12 December 2020

Relation of optical coherence tomography to microanatomy in normal and rd chickens

1 reference

12 December 2020

Effects of shaker-1 mutations on myosin-VIIa protein and mRNA expression

1 reference

12 December 2020

Automated Light- and Dark- Adapted Perimetry for Evaluating Retinitis Pigmentosa

1 reference

12 December 2020

Natural course of visual field loss in patients with Type 2 Usher syndrome

1 reference

12 December 2020

Rate of visual field loss in retinitis pigmentosa

1 reference

12 December 2020

Natural course of retinitis pigmentosa over a three-year interval

1 reference

12 December 2020

Identifiers

DOI

10.1167/IOVS.11-8313

1 reference

9 August 2017

1 reference

9 August 2017

1 reference