194 related articles for article (PubMed ID: 34906067)
21. Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency.
Carstens RP; Fenton WA; Rosenberg LR
Am J Hum Genet; 1991 Jun; 48(6):1105-14. PubMed ID: 2035531
[TBL] [Abstract][Full Text] [Related]
22. Estimation of the total number of disease-causing mutations in ornithine transcarbamylase (OTC) deficiency. Value of the OTC structure in predicting a mutation pathogenic potential.
Arranz JA; Riudor E; Marco-Marín C; Rubio V
J Inherit Metab Dis; 2007 Apr; 30(2):217-26. PubMed ID: 17334707
[TBL] [Abstract][Full Text] [Related]
23. Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene.
Bisanzi S; Morrone A; Donati MA; Pasquini E; Spada M; Strisciuglio P; Parenti G; Parini R; Papadia F; Zammarchi E
Mol Genet Metab; 2002 Jun; 76(2):137-44. PubMed ID: 12083811
[TBL] [Abstract][Full Text] [Related]
24. Functional studies on the ATM intronic splicing processing element.
Lewandowska MA; Stuani C; Parvizpur A; Baralle FE; Pagani F
Nucleic Acids Res; 2005; 33(13):4007-15. PubMed ID: 16030351
[TBL] [Abstract][Full Text] [Related]
25. Quantitative Activity Profile and Context Dependence of All Human 5' Splice Sites.
Wong MS; Kinney JB; Krainer AR
Mol Cell; 2018 Sep; 71(6):1012-1026.e3. PubMed ID: 30174293
[TBL] [Abstract][Full Text] [Related]
26. Profiling of cis- and trans-acting factors supporting noncanonical splice site activation.
Erkelenz S; Poschmann G; Ptok J; Müller L; Schaal H
RNA Biol; 2021 Jan; 18(1):118-130. PubMed ID: 32693676
[TBL] [Abstract][Full Text] [Related]
27. Aberrant splicing of tau pre-mRNA caused by intronic mutations associated with the inherited dementia frontotemporal dementia with parkinsonism linked to chromosome 17.
Jiang Z; Cote J; Kwon JM; Goate AM; Wu JY
Mol Cell Biol; 2000 Jun; 20(11):4036-48. PubMed ID: 10805746
[TBL] [Abstract][Full Text] [Related]
28. Splicing Mutations Impairing CDKL5 Expression and Activity Can be Efficiently Rescued by U1snRNA-Based Therapy.
Balestra D; Giorgio D; Bizzotto M; Fazzari M; Ben Zeev B; Pinotti M; Landsberger N; Frasca A
Int J Mol Sci; 2019 Aug; 20(17):. PubMed ID: 31450582
[TBL] [Abstract][Full Text] [Related]
29. Determinants of the inherent strength of human 5' splice sites.
Roca X; Sachidanandam R; Krainer AR
RNA; 2005 May; 11(5):683-98. PubMed ID: 15840817
[TBL] [Abstract][Full Text] [Related]
30. A role for the Psi-U mismatch in the recognition of the 5' splice site of yeast introns by the U1 small nuclear ribonucleoprotein particle.
Libri D; Duconge F; Levy L; Vinauger M
J Biol Chem; 2002 May; 277(20):18173-81. PubMed ID: 11877437
[TBL] [Abstract][Full Text] [Related]
31. Intron retention resulting from a silent mutation in the VWF gene that structurally influences the 5' splice site.
Yadegari H; Biswas A; Akhter MS; Driesen J; Ivaskevicius V; Marquardt N; Oldenburg J
Blood; 2016 Oct; 128(17):2144-2152. PubMed ID: 27543438
[TBL] [Abstract][Full Text] [Related]
32. Efficient mitochondrial import of newly synthesized ornithine transcarbamylase (OTC) and correction of secondary metabolic alterations in spf(ash) mice following gene therapy of OTC deficiency.
Zimmer KP; Bendiks M; Mori M; Kominami E; Robinson MB; Ye X; Wilson JM
Mol Med; 1999 Apr; 5(4):244-53. PubMed ID: 10448647
[TBL] [Abstract][Full Text] [Related]
33. Binding of hnRNP H and U2AF65 to respective G-codes and a poly-uridine tract collaborate in the N50-5'ss selection of the REST N exon in H69 cells.
Ortuño-Pineda C; Galindo-Rosales JM; Calderón-Salinas JV; Villegas-Sepúlveda N; Saucedo-Cárdenas O; De Nova-Ocampo M; Valdés J
PLoS One; 2012; 7(7):e40315. PubMed ID: 22792276
[TBL] [Abstract][Full Text] [Related]
34. A novel role of U1 snRNP: Splice site selection from a distance.
Singh RN; Singh NN
Biochim Biophys Acta Gene Regul Mech; 2019 Jun; 1862(6):634-642. PubMed ID: 31042550
[TBL] [Abstract][Full Text] [Related]
35. Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.
Wimmer K; Roca X; Beiglböck H; Callens T; Etzler J; Rao AR; Krainer AR; Fonatsch C; Messiaen L
Hum Mutat; 2007 Jun; 28(6):599-612. PubMed ID: 17311297
[TBL] [Abstract][Full Text] [Related]
36. An intronic polypyrimidine-rich element downstream of the donor site modulates cystic fibrosis transmembrane conductance regulator exon 9 alternative splicing.
Zuccato E; Buratti E; Stuani C; Baralle FE; Pagani F
J Biol Chem; 2004 Apr; 279(17):16980-8. PubMed ID: 14966131
[TBL] [Abstract][Full Text] [Related]
37. Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays.
Fraile-Bethencourt E; Valenzuela-Palomo A; Díez-Gómez B; Acedo A; Velasco EA
Front Genet; 2018; 9():188. PubMed ID: 29881398
[TBL] [Abstract][Full Text] [Related]
38. The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction.
Scalet D; Sacchetto C; Bernardi F; Pinotti M; van de Graaf SFJ; Balestra D
J Hum Genet; 2018 May; 63(5):683-686. PubMed ID: 29497141
[TBL] [Abstract][Full Text] [Related]
39. An engineered U1 small nuclear RNA rescues splicing defective coagulation F7 gene expression in mice.
Balestra D; Faella A; Margaritis P; Cavallari N; Pagani F; Bernardi F; Arruda VR; Pinotti M
J Thromb Haemost; 2014 Feb; 12(2):177-85. PubMed ID: 24738135
[TBL] [Abstract][Full Text] [Related]
40. U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency.
Pinotti M; Rizzotto L; Balestra D; Lewandowska MA; Cavallari N; Marchetti G; Bernardi F; Pagani F
Blood; 2008 Mar; 111(5):2681-4. PubMed ID: 18156490
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
