(Q37029258)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19112530%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19112530%20AND%20SRC:MED&resulttype=core&format=json

autosomal dominant optic atrophy

19 January 2020

main subject

0 references

author name string

Yang Li

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19112530%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Ting Deng

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19112530%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Yi Tong

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19112530%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Shuling Peng

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19112530%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Bing Dong

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19112530%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Dacheng He

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19112530%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

publication date

29 December 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19112530%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19112530%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

volume

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19112530%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

page(s)

2451-2457

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19112530%20AND%20SRC:MED&resulttype=core&format=json

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

19 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2610289

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2610289

Differential sublocalization of the dynamin-related protein OPA1 isoforms in mitochondria

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2610289

The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2610289

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2610289

Mutation spectrum and splicing variants in the OPA1 gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2610289

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2610289

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2610289

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2610289

A perfect message: RNA surveillance and nonsense-mediated decay

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2610289

Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2610289

A Clinicopathologic Study of Autosomal Dominant Optic Atrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2610289

A novel OPA1 mutation responsible for autosomal dominant optic atrophy with high frequency hearing loss in a Chinese family.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2610289

The G401D mutation of OPA1 causes autosomal dominant optic atrophy and hearing loss in a Chinese family.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2610289

eOPA1: an online database for OPA1 mutations

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2610289

A third locus for dominant optic atrophy on chromosome 22q.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2610289

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2610289

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2610289

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2610289

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

20 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Fast and sensitive silver staining of DNA in polyacrylamide gels

1 reference

12 December 2020

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

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

OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19112530%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

PubMed publication ID

19112530

1 reference