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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

10 May 2004

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PMID: 15195661
DOI: 10.1086/420978

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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 PenetrancePMID 15195661Read ↗

Nuclear factor TDP‐43 and SR proteins promote in vitro and in vivo CFTR exon 9 skippingSemantic proximity Read ↗

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

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TDP-43 functions and pathogenic mechanisms implicated in TDP-43 proteinopathiesSemantic proximity Read ↗

Abnormal Splicing Events due to Loss of Nuclear Function of TDP-43: Pathophysiology and PerspectivesSemantic proximity Read ↗

TDP-43 chronic deficiency leads to dysregulation of transposable elements and gene expression by affecting R-loop and 5hmC crosstalkSemantic proximity Read ↗

A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD).Semantic proximity Read ↗

Structural diversity and functional implications of the eukaryotic TDP gene family.Semantic proximity Read ↗

Molecular Dissection of TDP-43 ProteinopathiesSemantic proximity Read ↗

A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing.Semantic proximity Read ↗

TARDBP pathogenic mutations increase cytoplasmic translocation of TDP-43 and cause reduction of endoplasmic reticulum Ca2+ signaling in motor neuronsSemantic proximity Read ↗

Elucidating the phenotypic variability associated with the polyT tract and TG repeats in CFTRSemantic proximity Read ↗

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