Gene structure and chromosomal localization of mouse Opa1 : its exclusion from the Bst locus (Q24800759)

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3 November 2019

title

Gene structure and chromosomal localization of mouse Opa1 : its exclusion from the Bst locus (English)

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3 November 2019

2

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3 November 2019

Pascale Belenguer

series ordinal

3

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3 November 2019

author name string

Cécile Delettre

series ordinal

1

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3 November 2019

Christian P Hamel

series ordinal

4

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3 November 2019

language of work or name

English

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publication date

7 May 2003

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3 November 2019

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3 November 2019

volume

4

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3 November 2019

issue

1

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page(s)

8

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https://scigraph.springernature.com/pub.10.1186/1471-2156-4-8

3 November 2019

exact match

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/1471-2156-4-8

cites work

Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews

1 reference

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Identification and characterization of the potential promoter regions of 1031 kinds of human genes

7 April 2017

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A mutation in a mitochondrial transmembrane protein is responsible for the pleiotropic hematological and skeletal phenotype of flexed-tail (f/f) mice

7 April 2017

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=156655

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

7 April 2017

1 reference

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A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy

7 April 2017

1 reference

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A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene

7 April 2017

1 reference

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Mutation spectrum and splicing variants in the OPA1 gene

7 April 2017

1 reference

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A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect

7 April 2017

1 reference

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=156655

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=156655

Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method: a study of 38 British Isles pedigrees

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=156655

Decreased retinal ganglion cell number and misdirected axon growth associated with fissure defects in Bst/+ mutant mice

7 April 2017

1 reference

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BLAST 2 Sequences, a new tool for comparing protein and nucleotide sequences

7 April 2017

1 reference

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The bst locus on mouse chromosome 16 is associated with age-related subretinal neovascularization

7 April 2017

1 reference

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A first-generation whole genome-radiation hybrid map spanning the mouse genome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=156655

Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=156655

No evidence of genetic heterogeneity in dominant optic atrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=156655

A Clinicopathologic Study of Autosomal Dominant Optic Atrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=156655

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=156655

Position of Igl-1, md, and Bst loci on chromosome 16 of the mouse

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=156655

Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1)

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=156655

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=156655

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

28 November 2018

1 reference

12 December 2020

Mapping the Bst mutation on mouse Chromosome 16: a model for human optic atrophy

1 reference

12 December 2020

Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3.

1 reference

12 December 2020

Dominant optic atrophy, Kjer type. Linkage analysis and clinical features in a large British pedigree

1 reference

12 December 2020

Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy

1 reference

12 December 2020

Rod thresholds in dominantly inherited juvenile optic atrophy

1 reference

12 December 2020

1 reference

12 December 2020

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

1 reference

12 December 2020

Electrophysiological findings in dominant optic atrophy (DOA) linking to the OPA1 locus on chromosome 3q 28-qter

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2156-4-8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12735796%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

3 November 2019

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/1471-2156-4-8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12735796%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference