218 related articles for article (PubMed ID: 37254000)
1. All reported non-canonical splice site variants in GLA cause aberrant splicing.
Okada E; Horinouchi T; Yamamura T; Aoto Y; Suzuki R; Ichikawa Y; Tanaka Y; Masuda C; Kitakado H; Kondo A; Sakakibara N; Ishiko S; Nagano C; Ishimori S; Usui J; Yamagata K; Matsuo M; Nozu K
Clin Exp Nephrol; 2023 Sep; 27(9):737-746. PubMed ID: 37254000
[TBL] [Abstract][Full Text] [Related]
2. The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer.
Palhais B; Dembic M; Sabaratnam R; Nielsen KS; Doktor TK; Bruun GH; Andresen BS
Mol Genet Metab; 2016 Nov; 119(3):258-269. PubMed ID: 27595546
[TBL] [Abstract][Full Text] [Related]
3. Clinical Characteristics of
Weisschuh N; Mazzola P; Bertrand M; Haack TB; Wissinger B; Kohl S; Stingl K
Int J Mol Sci; 2021 May; 22(10):. PubMed ID: 34065499
[TBL] [Abstract][Full Text] [Related]
4. Abnormal Pre-mRNA Splicing in Exonic Fabry Disease-Causing GLA Mutations.
Alfen F; Putscher E; Hecker M; Zettl UK; Hermann A; Lukas J
Int J Mol Sci; 2022 Dec; 23(23):. PubMed ID: 36499585
[TBL] [Abstract][Full Text] [Related]
5. Splicing mutations in inherited retinal diseases.
Weisschuh N; Buena-Atienza E; Wissinger B
Prog Retin Eye Res; 2021 Jan; 80():100874. PubMed ID: 32553897
[TBL] [Abstract][Full Text] [Related]
6. Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.
Lai LW; Whitehair O; Wu MJ; O'Meara M; Lien YH
Clin Genet; 2003 Jun; 63(6):476-82. PubMed ID: 12786754
[TBL] [Abstract][Full Text] [Related]
7. Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in
Tamayo A; Núñez-Moreno G; Ruiz C; Plaisancie J; Damian A; Moya J; Chassaing N; Calvas P; Ayuso C; Minguez P; Corton M
Int J Mol Sci; 2023 Jan; 24(2):. PubMed ID: 36675087
[TBL] [Abstract][Full Text] [Related]
8. Identification and functional characterization of the first deep intronic GLA mutation (IVS4+1326C>T) causing renal variant of Fabry disease.
Dai X; Zong X; Pan X; Lu W; Jiang GR; Lin F
Orphanet J Rare Dis; 2022 Jun; 17(1):237. PubMed ID: 35725559
[TBL] [Abstract][Full Text] [Related]
9. Aberrant splicing caused by exonic single nucleotide variants positioned 2nd or 3rd to the last nucleotide in the COL4A5 gene.
Okada E; Aoto Y; Horinouchi T; Yamamura T; Ichikawa Y; Tanaka Y; Ueda C; Kitakado H; Kondo A; Sakakibara N; Suzuki R; Usui J; Yamagata K; Iijima K; Nozu K
Clin Exp Nephrol; 2023 Mar; 27(3):218-226. PubMed ID: 36371577
[TBL] [Abstract][Full Text] [Related]
10. Interpretable prioritization of splice variants in diagnostic next-generation sequencing.
Danis D; Jacobsen JOB; Carmody LC; Gargano MA; McMurry JA; Hegde A; Haendel MA; Valentini G; Smedley D; Robinson PN
Am J Hum Genet; 2021 Sep; 108(9):1564-1577. PubMed ID: 34289339
[TBL] [Abstract][Full Text] [Related]
11. Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P; Chaldebas M; Ogishi M; Al Qureshah F; Ponsin K; Feng Y; Rinchai D; Milisavljevic B; Han JE; Moncada-Vélez M; Keles S; Schröder B; Stenson PD; Cooper DN; Cobat A; Boisson B; Zhang Q; Boisson-Dupuis S; Abel L; Casanova JL
Proc Natl Acad Sci U S A; 2023 Nov; 120(46):e2314225120. PubMed ID: 37931111
[TBL] [Abstract][Full Text] [Related]
12. Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing.
Sparber P; Sharova M; Davydenko K; Pyankov D; Filatova A; Skoblov M
Brain; 2024 Apr; 147(4):1278-1293. PubMed ID: 37956038
[TBL] [Abstract][Full Text] [Related]
13. Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.
Lee M; Roos P; Sharma N; Atalar M; Evans TA; Pellicore MJ; Davis E; Lam AN; Stanley SE; Khalil SE; Solomon GM; Walker D; Raraigh KS; Vecchio-Pagan B; Armanios M; Cutting GR
Am J Hum Genet; 2017 May; 100(5):751-765. PubMed ID: 28475858
[TBL] [Abstract][Full Text] [Related]
14. Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site.
Martínez-Pizarro A; Dembic M; Pérez B; Andresen BS; Desviat LR
PLoS Genet; 2018 Apr; 14(4):e1007360. PubMed ID: 29684050
[TBL] [Abstract][Full Text] [Related]
15. Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets.
Ma SL; Vega-Warner V; Gillies C; Sampson MG; Kher V; Sethi SK; Otto EA
PLoS One; 2015; 10(6):e0130729. PubMed ID: 26107949
[TBL] [Abstract][Full Text] [Related]
16. A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome.
Hiraide T; Shimizu K; Okumura Y; Miyamoto S; Nakashima M; Ogata T; Saitsu H
J Hum Genet; 2023 Jul; 68(7):499-505. PubMed ID: 36894704
[TBL] [Abstract][Full Text] [Related]
17. Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations.
Richards AJ; McNinch A; Whittaker J; Treacy B; Oakhill K; Poulson A; Snead MP
Eur J Hum Genet; 2012 May; 20(5):552-8. PubMed ID: 22189268
[TBL] [Abstract][Full Text] [Related]
18. Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing.
Reuter P; Walter M; Kohl S; Weisschuh N
Sci Rep; 2023 Feb; 13(1):2896. PubMed ID: 36801918
[TBL] [Abstract][Full Text] [Related]
19. Insights of Noncanonical Splice-site Variants on RNA Splicing in Patients With Congenital Hypothyroidism.
Albader N; Zou M; BinEssa HA; Abdi S; Al-Enezi AF; Meyer BF; Alzahrani AS; Shi Y
J Clin Endocrinol Metab; 2022 Feb; 107(3):e1263-e1276. PubMed ID: 34632506
[TBL] [Abstract][Full Text] [Related]
20. Computational analysis of splicing errors and mutations in human transcripts.
Kurmangaliyev YZ; Gelfand MS
BMC Genomics; 2008 Jan; 9():13. PubMed ID: 18194514
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]