185 related articles for article (PubMed ID: 36499585)
1. 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]
2. Defective pre-mRNA splicing in PKD1 due to presumed missense and synonymous mutations causing autosomal dominant polycystic disease.
Gonzalez-Paredes FJ; Ramos-Trujillo E; Claverie-Martin F
Gene; 2014 Aug; 546(2):243-9. PubMed ID: 24907393
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. 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]
7. MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M; Sterne-Weiler T; Li B; Ball EV; Cooper DN; Radivojac P; Sanford JR; Mooney SD
Genome Biol; 2014 Jan; 15(1):R19. PubMed ID: 24451234
[TBL] [Abstract][Full Text] [Related]
8. Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations.
Perdomo-Ramirez A; de Armas-Ortiz M; Ramos-Trujillo E; Suarez-Artiles L; Claverie-Martin F
BMC Med Genet; 2019 Jan; 20(1):6. PubMed ID: 30621608
[TBL] [Abstract][Full Text] [Related]
9. Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.
Wappenschmidt B; Becker AA; Hauke J; Weber U; Engert S; Köhler J; Kast K; Arnold N; Rhiem K; Hahnen E; Meindl A; Schmutzler RK
PLoS One; 2012; 7(12):e50800. PubMed ID: 23239986
[TBL] [Abstract][Full Text] [Related]
10. Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: Ag+1 to t substitution in a 5'-splice site causing Fabry disease.
Sakuraba H; Eng CM; Desnick RJ; Bishop DF
Genomics; 1992 Apr; 12(4):643-50. PubMed ID: 1315304
[TBL] [Abstract][Full Text] [Related]
11. A missense mutation in TTC8/BBS8 affecting mRNA splicing in patients with non-syndromic retinitis pigmentosa.
Goyal S; Vanita V
Mol Genet Genomics; 2022 Sep; 297(5):1439-1449. PubMed ID: 35939099
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.
Aretz S; Uhlhaas S; Sun Y; Pagenstecher C; Mangold E; Caspari R; Möslein G; Schulmann K; Propping P; Friedl W
Hum Mutat; 2004 Nov; 24(5):370-80. PubMed ID: 15459959
[TBL] [Abstract][Full Text] [Related]
14. Three exonic mutations in polycystic kidney disease-2 gene (PKD2) alter splicing of its pre-mRNA in a minigene system.
Gonzalez-Paredes FJ; Ramos-Trujillo E; Claverie-Martin F
Gene; 2016 Mar; 578(1):117-23. PubMed ID: 26692149
[TBL] [Abstract][Full Text] [Related]
15. Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene.
Aznarez I; Chan EM; Zielenski J; Blencowe BJ; Tsui LC
Hum Mol Genet; 2003 Aug; 12(16):2031-40. PubMed ID: 12913074
[TBL] [Abstract][Full Text] [Related]
16. Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype.
Ishii S; Nakao S; Minamikawa-Tachino R; Desnick RJ; Fan JQ
Am J Hum Genet; 2002 Apr; 70(4):994-1002. PubMed ID: 11828341
[TBL] [Abstract][Full Text] [Related]
17. An exonic splicing enhancer offsets the atypical GU-rich 3' splice site of human apolipoprotein A-II exon 3.
Arrisi-Mercado P; Romano M; Muro AF; Baralle FE
J Biol Chem; 2004 Sep; 279(38):39331-9. PubMed ID: 15247216
[TBL] [Abstract][Full Text] [Related]
18. An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects.
Fernandez Alanis E; Pinotti M; Dal Mas A; Balestra D; Cavallari N; Rogalska ME; Bernardi F; Pagani F
Hum Mol Genet; 2012 Jun; 21(11):2389-98. PubMed ID: 22362925
[TBL] [Abstract][Full Text] [Related]
19. Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11.
Heintz C; Dobrowolski SF; Andersen HS; Demirkol M; Blau N; Andresen BS
Mol Genet Metab; 2012 Aug; 106(4):403-11. PubMed ID: 22698810
[TBL] [Abstract][Full Text] [Related]
20. A Reporter Based Cellular Assay for Monitoring Splicing Efficiency.
Wong J; Martelly W; Sharma S
J Vis Exp; 2021 Sep; (175):. PubMed ID: 34605821
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
