(Q80849075)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17722006%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17722006%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

author name string

Simone Schimpf

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17722006%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Nico Fuhrmann

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17722006%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Simone Schaich

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17722006%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Bernd Wissinger

4

1 reference

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4 January 2020

publication date

1 January 2008

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4 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17722006%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

volume

29

1 reference

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4 January 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17722006%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

page(s)

106-112

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17722006%20AND%20SRC:MED&resulttype=core&format=json

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

4 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20607

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20607

7 January 2021

Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20607

7 January 2021

Dominant juvenile optic atrophy. A study in two families and review of hereditary disease in childhood

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20607

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20607

7 January 2021

Mutation spectrum and splicing variants in the OPA1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20607

7 January 2021

OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20607

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20607

7 January 2021

eOPA1: an online database for OPA1 mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20607

7 January 2021

Nonsense-mediated mRNA decay in health and disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20607

7 January 2021

Chain-terminating mutations in the APC gene lead to alterations in APC RNA and protein concentration

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20607

7 January 2021

A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20607

7 January 2021

The position of premature termination codons in the hepatocyte nuclear factor -1 beta gene determines susceptibility to nonsense-mediated decay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20607

7 January 2021

Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20607

7 January 2021

A Clinicopathologic Study of Autosomal Dominant Optic Atrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20607

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20607

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20607

7 January 2021

Dominant optic atrophy. The clinical profile

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20607

7 January 2021

Ehlers-Danlos Syndrome Type IV: A Single Base Substitution of the Last Nucleotide of Exon 34 in COL3A1 Leads to Exon Skipping

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20607

7 January 2021

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20607

7 January 2021

Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20607

7 January 2021

A high-density transcript map of the human dominant optic atrophy OPA1 gene locus and re-evaluation of evidence for a founder haplotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20607

7 January 2021

The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20607

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20607

7 January 2021

Mutant transcripts of the LDL receptor gene: mRNA structure and quantity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20607

7 January 2021

Studies in dominant optic atrophy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20607

7 January 2021

Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20607

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20607

7 January 2021

Analysis of the allele-specific expression of the mismatch repair gene MLH1 using a simple DHPLC-Based Method

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20607

7 January 2021

A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20607

7 January 2021

Identifiers

DOI

10.1002/HUMU.20607

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17722006%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

1 reference