(Q33645574)

28 July 2017

title

Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy (English)

1 reference

autosomal dominant optic atrophy

28 July 2017

main subject

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author name string

Gian Nicola Gallus

1 reference

28 July 2017

Elena Cardaioli

1 reference

28 July 2017

Alessandra Rufa

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28 July 2017

Paola Da Pozzo

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28 July 2017

Silvia Bianchi

1 reference

28 July 2017

Camilla D'Eramo

1 reference

28 July 2017

Michele Collura

1 reference

28 July 2017

Manuela Tumino

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28 July 2017

Lorenzo Pavone

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28 July 2017

Antonio Federico

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28 July 2017

publication date

10 February 2010

1 reference

28 July 2017

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28 July 2017

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28 July 2017

page(s)

178-183

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Intronic Alus influence alternative splicing

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820104

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820104

Alu elements as regulators of gene expression

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820104

OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820104

Whole genome computational comparative genomics: A fruitful approach for ascertaining Alu insertion polymorphisms

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820104

Repbase Update, a database of eukaryotic repetitive elements

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820104

A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820104

Mobile elements: drivers of genome evolution

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820104

Mitochondrial dysfunction as a cause of optic neuropathies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820104

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820104

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820104

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820104

Sequence patterns indicate an enzymatic involvement in integration of mammalian retroposons

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820104

A de novo Alu insertion results in neurofibromatosis type 1

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820104

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820104

Exon skipping caused by an intronic insertion of a young Alu Yb9 element leads to severe hemophilia A.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820104

Inactivation of the Fas gene by Alu insertion: retrotransposition in an intron causing splicing variation and autoimmune lymphoproliferative syndrome.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820104

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

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20157369

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

PMC publication ID

2820104

1 reference

28 July 2017

1 reference