(Q54341384)

28 May 2018

title

OPA1 mutations in Japanese patients suspected to have autosomal dominant optic atrophy. (English)

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28 May 2018

autosomal dominant optic atrophy

main subject

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author name string

Tetsuya Hamahata

1

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28 May 2018

Takuro Fujimaki

2

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28 May 2018

Keiko Fujiki

3

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28 May 2018

Ai Miyazaki

4

1 reference

28 May 2018

Atsushi Mizota

5

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28 May 2018

Akira Murakami

6

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28 May 2018

publication date

1 November 2011

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28 May 2018

Japanese Journal of Ophthalmology

published in

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28 May 2018

volume

56

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28 May 2018

page(s)

91-97

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28 May 2018

issue

1

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28 May 2018

https://scigraph.springernature.com/pub.10.1007/s10384-011-0096-1

exact match

0 references

cites work

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

1 reference

https://api.crossref.org/works/10.1007%2FS10384-011-0096-1

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

21 January 2018

1 reference

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eOPA1: an online database for OPA1 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10384-011-0096-1

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10384-011-0096-1

Dominant optic atrophy: correlation between clinical and molecular genetic studies.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10384-011-0096-1

The epidemiology of Leber hereditary optic neuropathy in the North East of England

21 January 2018

1 reference

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Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland

21 January 2018

1 reference

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Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10384-011-0096-1

Mutation spectrum and splicing variants in the OPA1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10384-011-0096-1

A model for dynamin self-assembly based on binding between three different protein domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10384-011-0096-1

Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis

21 January 2018

1 reference

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Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

21 January 2018

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OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

21 January 2018

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OPA1-associated disorders: phenotypes and pathophysiology.

21 January 2018

1 reference

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A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy.

21 January 2018

1 reference

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Autosomal Dominant Optic Atrophy: Penetrance and Expressivity in Patients With OPA1 Mutations

21 January 2018

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A Clinicopathologic Study of Autosomal Dominant Optic Atrophy

21 January 2018

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OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance

21 January 2018

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12 December 2020

Multiple distinct coiled-coils are involved in dynamin self-assembly

1 reference

12 December 2020

Hereditary optic neuropathies

1 reference

12 December 2020

Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families

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12 December 2020

[A novel mutation of the type 1 optic atrophy(OPA1) gene in a Japanese family with OPA1]

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12 December 2020

Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis

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12 December 2020

Refinement of the OPA1 gene locus on chromosome 3q28-q29 to a region of 2-8 cM, in one Cuban pedigree with autosomal dominant optic atrophy type Kjer

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12 December 2020

Autosomal dominant optic atrophy. A spectrum of disability.

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12 December 2020

Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects

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12 December 2020

Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons

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12 December 2020

Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy

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12 December 2020

Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function

1 reference

12 December 2020

10.1007/S10384-011-0096-1

Identifiers

DOI

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28 May 2018

PubMed ID

22042570

1 reference

28 May 2018