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Age-dependent regulation of ELP1 exon 20 splicing in Familial Dysautonomia by RNA Polymerase II kinetics and chromatin structure

PloS one, 2024-06, Vol.19 (6), p.e0298965-e0298965

2024

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Genomic variants in exons and introns: identifying the splicing spoilers

Nature reviews. Genetics, 2004-05, Vol.5 (5), p.389-396

2004

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Therapeutic activity of modified U1 core spliceosomal particles

Nature communications, 2016-04, Vol.7 (1), p.11168-11168, Article 11168

2016

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Interaction of hnRNPA1/A2 and DAZAP1 with an Alu-derived intronic splicing enhancer regulates ATM aberrant splicing

PloS one, 2011-08, Vol.6 (8), p.e23349-e23349

2011

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Regulation of TMEM16A Chloride Channel Properties by Alternative Splicing

The Journal of biological chemistry, 2009-11, Vol.284 (48), p.33360-33368

2009

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Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function

PLoS genetics, 2016-05, Vol.12 (5), p.e1006082-e1006082

2016

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Synonymous Mutations in CFTR Exon 12 Affect Splicing and Are Not Neutral in Evolution

Proceedings of the National Academy of Sciences - PNAS, 2005-05, Vol.102 (18), p.6368-6372

2005

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Binding of DAZAP1 and hnRNPA1/A2 to an Exonic Splicing Silencer in a Natural BRCA1 Exon 18 Mutant

Molecular and Cellular Biology, 2008-06, Vol.28 (11), p.3850-3860

2008

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An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects

Human molecular genetics, 2012-06, Vol.21 (11), p.2389-2398

2012

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OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spfash mice, and govern susceptibility to RNA-based therapies

Molecular medicine (Cambridge, Mass.), 2021-12, Vol.27 (1), p.157-157, Article 157

2021

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Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre‐messenger RNA splicing

Hepatology (Baltimore, Md.), 2009-02, Vol.49 (2), p.553-567

2009

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An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus

Nature (London), 2007-08, Vol.448 (7156), p.934-937

2007

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A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I

International journal of molecular sciences, 2020-03, Vol.21 (6), p.2136

2020

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TMEM16A alternative splicing coordination in breast cancer

Molecular cancer, 2013-07, Vol.12 (1), p.75-75, Article 75

2013

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Analysis of aberrant pre‐messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNA

Hepatology (Baltimore, Md.), 2015-04, Vol.61 (4), p.1382-1391

2015

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An Exon-Specific U1snRNA Induces a Robust Factor IX Activity in Mice Expressing Multiple Human FIX Splicing Mutants

Molecular therapy. Nucleic acids, 2016-10, Vol.5 (10), p.e370-e370, Article e370

2016

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Missense, Nonsense, and Neutral Mutations Define Juxtaposed Regulatory Elements of Splicing in Cystic Fibrosis Transmembrane Regulator Exon 9

The Journal of biological chemistry, 2003-07, Vol.278 (29), p.26580-26588

2003

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A new type of mutation causes a splicing defect in ATM

Nature genetics, 2002-04, Vol.30 (4), p.426-429

2002

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TDP43 depletion rescues aberrant CFTR exon 9 skipping

FEBS letters, 2006-02, Vol.580 (5), p.1339-1344

2006

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An Intronic Polypyrimidine-rich Element Downstream of the Donor Site Modulates Cystic Fibrosis Transmembrane Conductance Regulator Exon 9 Alternative Splicing

The Journal of biological chemistry, 2004-04, Vol.279 (17), p.16980-16988

2004

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Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic Element

The Journal of biological chemistry, 2000-07, Vol.275 (28), p.21041-21047

2000

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A KCNH2 branch point mutation causing aberrant splicing contributes to an explanation of genotype-negative long QT syndrome

Heart rhythm, 2009-02, Vol.6 (2), p.212-218

2009

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Promoter Architecture Modulates CFTR Exon 9 Skipping

The Journal of biological chemistry, 2003-01, Vol.278 (3), p.1511-1517

2003

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Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNA

American journal of human genetics, 2022-08, Vol.109 (8), p.1534-1548

2022

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Regulation of Fibronectin EDA Exon Alternative Splicing: Possible Role of RNA Secondary Structure for Enhancer Display

Molecular and Cellular Biology, 1999-04, Vol.19 (4), p.2657-2671

1999

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Age-dependent regulation of ELP1 exon 20 splicing in Familial Dysautonomia by RNA Polymerase II kinetics and chromatin structure

Genomic variants in exons and introns: identifying the splicing spoilers

Therapeutic activity of modified U1 core spliceosomal particles

Interaction of hnRNPA1/A2 and DAZAP1 with an Alu-derived intronic splicing enhancer regulates ATM aberrant splicing

Regulation of TMEM16A Chloride Channel Properties by Alternative Splicing

Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function

Synonymous Mutations in CFTR Exon 12 Affect Splicing and Are Not Neutral in Evolution

Binding of DAZAP1 and hnRNPA1/A2 to an Exonic Splicing Silencer in a Natural BRCA1 Exon 18 Mutant

An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects

OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spfash mice, and govern susceptibility to RNA-based therapies

Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre‐messenger RNA splicing

An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus

A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I

TMEM16A alternative splicing coordination in breast cancer

Analysis of aberrant pre‐messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNA

An Exon-Specific U1snRNA Induces a Robust Factor IX Activity in Mice Expressing Multiple Human FIX Splicing Mutants

Missense, Nonsense, and Neutral Mutations Define Juxtaposed Regulatory Elements of Splicing in Cystic Fibrosis Transmembrane Regulator Exon 9

A new type of mutation causes a splicing defect in ATM

TDP43 depletion rescues aberrant CFTR exon 9 skipping

An Intronic Polypyrimidine-rich Element Downstream of the Donor Site Modulates Cystic Fibrosis Transmembrane Conductance Regulator Exon 9 Alternative Splicing

Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic Element

A KCNH2 branch point mutation causing aberrant splicing contributes to an explanation of genotype-negative long QT syndrome

Promoter Architecture Modulates CFTR Exon 9 Skipping

Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNA

Regulation of Fibronectin EDA Exon Alternative Splicing: Possible Role of RNA Secondary Structure for Enhancer Display

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