(Q42930461)

English

Nuclear factor TDP-43 binds to the polymorphic TG repeats in CFTR intron 8 and causes skipping of exon 9: a functional link with disease penetrance

scientific article published on June 2004

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Europe PubMed Central

PMC publication ID

11 November 2017

Nuclear factor TDP-43 binds to the polymorphic TG repeats in CFTR intron 8 and causes skipping of exon 9: a functional link with disease penetrance (English)

1 reference

Europe PubMed Central

PMC publication ID

11 November 2017

Emanuele Buratti

1

1 reference

Europe PubMed Central

PMC publication ID

11 November 2017

3

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Europe PubMed Central

PMC publication ID

11 November 2017

author name string

Antonia Brindisi

2

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Europe PubMed Central

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11 November 2017

Francisco E Baralle

4

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Europe PubMed Central

PMC publication ID

11 November 2017

language of work or name

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publication date

1 June 2004

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Europe PubMed Central

PMC publication ID

11 November 2017

American Journal of Human Genetics

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Europe PubMed Central

PMC publication ID

11 November 2017

74

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Europe PubMed Central

PMC publication ID

11 November 2017

6

1 reference

Europe PubMed Central

PMC publication ID

11 November 2017

1322-1325

1 reference

Europe PubMed Central

PMC publication ID

11 November 2017

Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182100

27 May 2018

Structural diversity and functional implications of the eukaryotic TDP gene family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182100

27 May 2018

Pre-mRNA splicing and human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182100

27 May 2018

Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182100

27 May 2018

Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182100

27 May 2018

Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182100

27 May 2018

Expression of an abundant alternatively spliced form of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is not associated with a cAMP-activated chloride conductance.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182100

16 August 2018

Cystic fibrosis transmembrane conductance regulator splice variants are not conserved and fail to produce chloride channels

1 reference

https://pubmed.ncbi.nlm.nih.gov/15195661

12 December 2020

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1 reference

Europe PubMed Central

PMC publication ID

11 November 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

11 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

11 November 2017

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