Search details
1.
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Nucleic Acids Res
; 52(8): 4588-4603, 2024 May 08.
Article
in English
| MEDLINE | ID: mdl-38324470
2.
Corrigendum: Splicing factor 1 modulates dietary restriction and TORC1 pathway longevity in C. elegans.
Nature
; 547(7664): 476, 2017 07 27.
Article
in English
| MEDLINE | ID: mdl-28700577
3.
Essential role of CK2α for the interaction and stability of replication fork factors during DNA synthesis and activation of the S-phase checkpoint.
Cell Mol Life Sci
; 79(6): 339, 2022 Jun 04.
Article
in English
| MEDLINE | ID: mdl-35661926
4.
Pseudoexon activation in disease by non-splice site deep intronic sequence variation - wild type pseudoexons constitute high-risk sites in the human genome.
Hum Mutat
; 43(2): 103-127, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34837434
5.
Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers.
Hum Mutat
; 43(2): 253-265, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34923709
6.
Identification of SRSF10 as a regulator of SMN2 ISS-N1.
Hum Mutat
; 42(3): 246-260, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33300159
7.
Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells.
Nucleic Acids Res
; 46(15): 7938-7952, 2018 09 06.
Article
in English
| MEDLINE | ID: mdl-29762696
8.
Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan disease.
Mol Genet Metab
; 126(1): 64-76, 2019 01.
Article
in English
| MEDLINE | ID: mdl-30446350
9.
Global identification of hnRNP A1 binding sites for SSO-based splicing modulation.
BMC Biol
; 14: 54, 2016 07 05.
Article
in English
| MEDLINE | ID: mdl-27380775
10.
The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency.
Hum Mutat
; 35(1): 86-95, 2014 Jan.
Article
in English
| MEDLINE | ID: mdl-24123825
11.
Antisense Oligonucleotide Rescue of Deep-Intronic Variants Activating Pseudoexons in the 6-Pyruvoyl-Tetrahydropterin Synthase Gene.
Nucleic Acid Ther
; 32(5): 378-390, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35833796
12.
The phenylalanine hydroxylase c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencer.
Mol Genet Metab
; 100(4): 316-23, 2010 Aug.
Article
in English
| MEDLINE | ID: mdl-20457534
13.
Down-regulation of CK2α correlates with decreased expression levels of DNA replication minichromosome maintenance protein complex (MCM) genes.
Sci Rep
; 9(1): 14581, 2019 10 10.
Article
in English
| MEDLINE | ID: mdl-31601942
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