674 related articles for article (PubMed ID: 18853456)
1. A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment.
Davis RL; Homer VM; George PM; Brennan SO
Hum Mutat; 2009 Feb; 30(2):221-7. PubMed ID: 18853456
[TBL] [Abstract][Full Text] [Related]
2. Towards a therapeutic inhibition of dystrophin exon 23 splicing in mdx mouse muscle induced by antisense oligoribonucleotides (splicomers): target sequence optimisation using oligonucleotide arrays.
Graham IR; Hill VJ; Manoharan M; Inamati GB; Dickson G
J Gene Med; 2004 Oct; 6(10):1149-58. PubMed ID: 15386737
[TBL] [Abstract][Full Text] [Related]
3. Pseudo-exon activation caused by a deep-intronic mutation in the fibrinogen gamma-chain gene as a novel mechanism for congenital afibrinogenaemia.
Spena S; Asselta R; Platé M; Castaman G; Duga S; Tenchini ML
Br J Haematol; 2007 Oct; 139(1):128-32. PubMed ID: 17854317
[TBL] [Abstract][Full Text] [Related]
4. A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons.
Ridout CK; Keighley P; Krywawych S; Brown RM; Brown GK
Hum Mutat; 2008 Mar; 29(3):451. PubMed ID: 18273899
[TBL] [Abstract][Full Text] [Related]
5. Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia.
Vega AI; Pérez-Cerdá C; Desviat LR; Matthijs G; Ugarte M; Pérez B
Hum Mutat; 2009 May; 30(5):795-803. PubMed ID: 19235233
[TBL] [Abstract][Full Text] [Related]
6. The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria.
Homolova K; Zavadakova P; Doktor TK; Schroeder LD; Kozich V; Andresen BS
Hum Mutat; 2010 Apr; 31(4):437-44. PubMed ID: 20120036
[TBL] [Abstract][Full Text] [Related]
7. A missense mutation in the APC tumor suppressor gene disrupts an ASF/SF2 splicing enhancer motif and causes pathogenic skipping of exon 14.
Gonçalves V; Theisen P; Antunes O; Medeira A; Ramos JS; Jordan P; Isidro G
Mutat Res; 2009 Mar; 662(1-2):33-6. PubMed ID: 19111562
[TBL] [Abstract][Full Text] [Related]
8. [Fibrinogen beta chain gene mutation contributes to one congenital afibrinogenemia].
Xu XC; Zhou RF; Wu JS; Fang Y; Wang XF; Zhai ZM; Wang HL
Zhonghua Xue Ye Xue Za Zhi; 2005 Mar; 26(3):137-9. PubMed ID: 15946523
[TBL] [Abstract][Full Text] [Related]
9. Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations.
Neerman-Arbez M; de Moerloose P
Hum Mutat; 2007 Jun; 28(6):540-53. PubMed ID: 17295221
[TBL] [Abstract][Full Text] [Related]
10. Modulation of in vitro splicing of the upstream intron by modifying an intra-exon sequence which is deleted from the dystrophin gene in dystrophin Kobe.
Takeshima Y; Nishio H; Sakamoto H; Nakamura H; Matsuo M
J Clin Invest; 1995 Feb; 95(2):515-20. PubMed ID: 7860733
[TBL] [Abstract][Full Text] [Related]
11. Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations.
Pros E; Fernández-Rodríguez J; Canet B; Benito L; Sánchez A; Benavides A; Ramos FJ; López-Ariztegui MA; Capellá G; Blanco I; Serra E; Lázaro C
Hum Mutat; 2009 Mar; 30(3):454-62. PubMed ID: 19241459
[TBL] [Abstract][Full Text] [Related]
12. Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern.
Dall'Osso C; Guella I; Duga S; Locatelli N; Paraboschi EM; Spreafico M; Afrasiabi A; Pechlaner C; Peyvandi F; Tenchini ML; Asselta R
Haematologica; 2008 Oct; 93(10):1505-13. PubMed ID: 18728029
[TBL] [Abstract][Full Text] [Related]
13. Paris I dysfibrinogenemia: a point mutation in intron 8 results in insertion of a 15 amino acid sequence in the fibrinogen gamma-chain.
Rosenberg JB; Newman PJ; Mosesson MW; Guillin MC; Amrani DL
Thromb Haemost; 1993 Mar; 69(3):217-20. PubMed ID: 8470043
[TBL] [Abstract][Full Text] [Related]
14. Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy.
Shiga N; Takeshima Y; Sakamoto H; Inoue K; Yokota Y; Yokoyama M; Matsuo M
J Clin Invest; 1997 Nov; 100(9):2204-10. PubMed ID: 9410897
[TBL] [Abstract][Full Text] [Related]
15. Mutation screening at the RNA level of the STK11/LKB1 gene in Peutz-Jeghers syndrome reveals complex splicing abnormalities and a novel mRNA isoform (STK11 c.597(insertion mark)598insIVS4).
Abed AA; Günther K; Kraus C; Hohenberger W; Ballhausen WG
Hum Mutat; 2001 Nov; 18(5):397-410. PubMed ID: 11668633
[TBL] [Abstract][Full Text] [Related]
16. Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia.
Asselta R; Spena S; Duga S; Peyvandi F; Malcovati M; Mannucci PM; Tenchini ML
Haematologica; 2002 Aug; 87(8):855-9. PubMed ID: 12161363
[TBL] [Abstract][Full Text] [Related]
17. A single base mutation in the 5' splice site of intron 7 of the lck gene is responsible for the deletion of exon 7 in lck mRNA of the JCaM1 cell line.
Rouer E; Brule F; Benarous R
Oncogene; 1999 Jul; 18(29):4262-8. PubMed ID: 10435639
[TBL] [Abstract][Full Text] [Related]
18. Hypofibrinogenaemia associated with common gamma82Ala-->Gly mutation is not mediated by altered mRNA splicing.
Brennan SO; Homer VM; Davis RL; Meyer M; George PM
Thromb Haemost; 2006 Oct; 96(4):535-7. PubMed ID: 17003934
[No Abstract] [Full Text] [Related]
19. PLP1 alternative splicing in differentiating oligodendrocytes: characterization of an exonic splicing enhancer.
Wang E; Huang Z; Hobson GM; Dimova N; Sperle K; McCullough A; Cambi F
J Cell Biochem; 2006 Apr; 97(5):999-1016. PubMed ID: 16288477
[TBL] [Abstract][Full Text] [Related]
20. The strength of the HIV-1 3' splice sites affects Rev function.
Kammler S; Otte M; Hauber I; Kjems J; Hauber J; Schaal H
Retrovirology; 2006 Dec; 3():89. PubMed ID: 17144911
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
