124 related articles for article (PubMed ID: 38184202)
1. Pleiotropic effects of different exonic nucleotide changes at the same position contribute to hemophilia B phenotypic variation.
Zhang H; Xin M; Lin L; Chen C; Balestra D; Ding Q
J Thromb Haemost; 2024 Apr; 22(4):975-989. PubMed ID: 38184202
[TBL] [Abstract][Full Text] [Related]
2. Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function.
Lombardi S; Leo G; Merlin S; Follenzi A; McVey JH; Maestri I; Bernardi F; Pinotti M; Balestra D
Am J Hum Genet; 2021 Aug; 108(8):1512-1525. PubMed ID: 34242570
[TBL] [Abstract][Full Text] [Related]
3. Regulation of a strong F9 cryptic 5'ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides.
Balestra D; Barbon E; Scalet D; Cavallari N; Perrone D; Zanibellato S; Bernardi F; Pinotti M
Hum Mol Genet; 2015 Sep; 24(17):4809-16. PubMed ID: 26063760
[TBL] [Abstract][Full Text] [Related]
4. Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants.
Katneni UK; Liss A; Holcomb D; Katagiri NH; Hunt R; Bar H; Ismail A; Komar AA; Kimchi-Sarfaty C
Mol Genet Genomic Med; 2019 Aug; 7(8):e840. PubMed ID: 31257730
[TBL] [Abstract][Full Text] [Related]
5. F9 mRNA splicing aberration due to a deep Intronic structural variation in a patient with moderate hemophilia B.
Odaira K; Kawashima F; Tamura S; Suzuki N; Tokoro M; Hayakawa Y; Suzuki A; Kanematsu T; Okamoto S; Takagi A; Katsumi A; Matsushita T; Shima M; Nogami K; Kojima T; Hayakawa F
Thromb Res; 2022 May; 213():91-96. PubMed ID: 35313235
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Apparent synonymous mutation F9 c.87A>G causes secretion failure by in-frame mutation with aberrant splicing.
Odaira K; Tamura S; Suzuki N; Kakihara M; Hattori Y; Tokoro M; Suzuki S; Takagi A; Katsumi A; Hayakawa F; Okamoto S; Suzuki A; Kanematsu T; Matsushita T; Kojima T
Thromb Res; 2019 Jul; 179():95-103. PubMed ID: 31102861
[TBL] [Abstract][Full Text] [Related]
8. The characteristics and spectrum of F9 mutations in Chinese sporadic haemophilia B pedigrees.
Lu Y; Wu X; Dai J; Ding Q; Wu W; Wang X
Haemophilia; 2019 Mar; 25(2):316-323. PubMed ID: 30648777
[TBL] [Abstract][Full Text] [Related]
9. Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations.
Huang L; Li L; Lin S; Chen J; Li K; Fan D; Jin W; Li Y; Yang X; Xiong Y; Li F; Yang X; Li M; Li Q
Mol Genet Genomic Med; 2020 Nov; 8(11):e1482. PubMed ID: 32875744
[TBL] [Abstract][Full Text] [Related]
10. Disease-causing variants of the conserved +2T of 5' splice sites can be rescued by engineered U1snRNAs.
Scalet D; Maestri I; Branchini A; Bernardi F; Pinotti M; Balestra D
Hum Mutat; 2019 Jan; 40(1):48-52. PubMed ID: 30408273
[TBL] [Abstract][Full Text] [Related]
11. Advanced cell-based modeling of the royal disease: characterization of the mutated F9 mRNA.
Martorell L; Luce E; Vazquez JL; Richaud-Patin Y; Jimenez-Delgado S; Corrales I; Borras N; Casacuberta-Serra S; Weber A; Parra R; Altisent C; Follenzi A; Dubart-Kupperschmitt A; Raya A; Vidal F; Barquinero J
J Thromb Haemost; 2017 Nov; 15(11):2188-2197. PubMed ID: 28834196
[TBL] [Abstract][Full Text] [Related]
12. In silico analysis of missense mutations in exons 1-5 of the F9 gene that cause hemophilia B.
Meléndez-Aranda L; Jaloma-Cruz AR; Pastor N; Romero-Prado MMJ
BMC Bioinformatics; 2019 Jun; 20(1):363. PubMed ID: 31253089
[TBL] [Abstract][Full Text] [Related]
13. Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B.
Radic CP; Rossetti LC; Abelleyro MM; Candela M; Pérez Bianco R; de Tezanos Pinto M; Larripa IB; Goodeve A; De Brasi C
Thromb Haemost; 2013 Jan; 109(1):24-33. PubMed ID: 23093250
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spf
Sacchetto C; Peretto L; Baralle F; Maestri I; Tassi F; Bernardi F; van de Graaf SFJ; Pagani F; Pinotti M; Balestra D
Mol Med; 2021 Dec; 27(1):157. PubMed ID: 34906067
[TBL] [Abstract][Full Text] [Related]
16. The Canadian "National Program for hemophilia mutation testing" database: a ten-year review.
Rydz N; Leggo J; Tinlin S; James P; Lillicrap D
Am J Hematol; 2013 Dec; 88(12):1030-4. PubMed ID: 23913812
[TBL] [Abstract][Full Text] [Related]
17. Effects of 14 F9 synonymous codon variants on hemophilia B expression: Alteration of splicing along with protein expression.
Zhang H; Chen C; Wu X; Lou C; Liang Q; Wu W; Wang X; Ding Q
Hum Mutat; 2022 Jul; 43(7):928-939. PubMed ID: 35391506
[TBL] [Abstract][Full Text] [Related]
18. Mutation Spectrum and Genotype-Phenotype Analyses in a Pakistani Cohort With Hemophilia B.
Khan MTM; Naz A; Ahmed J; Shamsi T; Ahmed S; Ahmed N; Imran A; Farooq N; Khan MTH; Taj AS
Clin Appl Thromb Hemost; 2018 Jul; 24(5):741-748. PubMed ID: 28752769
[TBL] [Abstract][Full Text] [Related]
19. Genetic determinants of immunogenicity to factor IX during the treatment of haemophilia B.
Saini S; Hamasaki-Katagiri N; Pandey GS; Yanover C; Guelcher C; Simhadri VL; Dandekar S; Guerrera MF; Kimchi-Sarfaty C; Sauna ZE
Haemophilia; 2015 Mar; 21(2):210-218. PubMed ID: 25470321
[TBL] [Abstract][Full Text] [Related]
20. Molecular characterization of hemophilia B patients in Colombia.
Parrado Jara YA; Yunis Hazbun LK; Linares A; Yunis Londoño JJ
Mol Genet Genomic Med; 2020 May; 8(5):e1210. PubMed ID: 32155688
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
