350 related articles for article (PubMed ID: 16765626)
1. A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency.
Fukao T; Sakurai S; Rolland MO; Zabot MT; Schulze A; Yamada K; Kondo N
Mol Genet Metab; 2006 Nov; 89(3):280-2. PubMed ID: 16765626
[TBL] [Abstract][Full Text] [Related]
2. Single-base substitution at the last nucleotide of exon 6 (c.671G>A), resulting in the skipping of exon 6, and exons 6 and 7 in human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene.
Yamada K; Fukao T; Zhang G; Sakurai S; Ruiter JP; Wanders RJ; Kondo N
Mol Genet Metab; 2007 Mar; 90(3):291-7. PubMed ID: 17169596
[TBL] [Abstract][Full Text] [Related]
3. Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations.
Fukao T; Mitchell GA; Song XQ; Nakamura H; Kassovska-Bratinova S; Orii KE; Wraith JE; Besley G; Wanders RJ; Niezen-Koning KE; Berry GT; Palmieri M; Kondo N
Genomics; 2000 Sep; 68(2):144-51. PubMed ID: 10964512
[TBL] [Abstract][Full Text] [Related]
4. A novel single-base substitution (380C>T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene.
Nakamura K; Fukao T; Perez-Cerda C; Luque C; Song XQ; Naiki Y; Kohno Y; Ugarte M; Kondo N
Mol Genet Metab; 2001 Feb; 72(2):115-21. PubMed ID: 11161837
[TBL] [Abstract][Full Text] [Related]
5. Molecular basis of two-exon skipping (exons 12 and 13) by c.1248+5g>a in OXCT1 gene: study on intermediates of OXCT1 transcripts in fibroblasts.
Hori T; Fukao T; Murase K; Sakaguchi N; Harding CO; Kondo N
Hum Mutat; 2013 Mar; 34(3):473-80. PubMed ID: 23281106
[TBL] [Abstract][Full Text] [Related]
6. Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings.
Song XQ; Fukao T; Watanabe H; Shintaku H; Hirayama K; Kassovska-Bratinova S; Kondo N; Mitchell GA
Hum Mutat; 1998; 12(2):83-8. PubMed ID: 9671268
[TBL] [Abstract][Full Text] [Related]
7. Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail.
Meili D; Kralovicova J; Zagalak J; Bonafé L; Fiori L; Blau N; Thöny B; Vorechovsky I
Hum Mutat; 2009 May; 30(5):823-31. PubMed ID: 19280650
[TBL] [Abstract][Full Text] [Related]
8. Mutation of acceptor splice site of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda causes the activation of cryptic splice site.
Ma HW; Jiang J; Lu JF; Guo R; Niu GH
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Jun; 22(3):251-3. PubMed ID: 15952107
[TBL] [Abstract][Full Text] [Related]
9. In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G-->A mutations in introns of the dystrophin gene.
Habara Y; Takeshima Y; Awano H; Okizuka Y; Zhang Z; Saiki K; Yagi M; Matsuo M
J Med Genet; 2009 Aug; 46(8):542-7. PubMed ID: 19001018
[TBL] [Abstract][Full Text] [Related]
10. A G-to-A transition at the fifth position of intron-32 of the dystrophin gene inactivates a splice-donor site both in vivo and in vitro.
Thi Tran HT; Takeshima Y; Surono A; Yagi M; Wada H; Matsuo M
Mol Genet Metab; 2005 Jul; 85(3):213-9. PubMed ID: 15979033
[TBL] [Abstract][Full Text] [Related]
11. Two alternative exons can result from activation of the cryptic splice acceptor site deep within intron 2 of the dystrophin gene in a patient with as yet asymptomatic dystrophinopathy.
Yagi M; Takeshima Y; Wada H; Nakamura H; Matsuo M
Hum Genet; 2003 Feb; 112(2):164-70. PubMed ID: 12522557
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Novel cryptic exons identified in introns 2 and 3 of the human dystrophin gene with duplication of exons 8-11.
Ishibashi K; Takeshima Y; Yagi M; Nishiyama A; Matsuo M
Kobe J Med Sci; 2006; 52(3-4):61-75. PubMed ID: 16849873
[TBL] [Abstract][Full Text] [Related]
14. BRCA1 IVS16+6T-->C is a deleterious mutation that creates an aberrant transcript by activating a cryptic splice donor site.
Scholl T; Pyne MT; Russo D; Ward BE
Am J Med Genet; 1999 Jul; 85(2):113-6. PubMed ID: 10406662
[TBL] [Abstract][Full Text] [Related]
15. Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA Transferase (SCOT) do not show permanent ketosis.
Fukao T; Shintaku H; Kusubae R; Zhang GX; Nakamura K; Kondo M; Kondo N
Pediatr Res; 2004 Dec; 56(6):858-63. PubMed ID: 15496607
[TBL] [Abstract][Full Text] [Related]
16. An aberrant splicing using a 3' cryptic splice site within the CH1 exon induces truncated mu-chain production.
Komori T; Sugiyama H
Immunology; 1995 May; 85(1):166-70. PubMed ID: 7635518
[TBL] [Abstract][Full Text] [Related]
17. Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy.
Tuffery-Giraud S; Saquet C; Chambert S; Claustres M
Hum Mutat; 2003 Jun; 21(6):608-14. PubMed ID: 12754707
[TBL] [Abstract][Full Text] [Related]
18. A novel 3' splice-site mutation and a novel gross deletion in leukocyte adhesion deficiency (LAD)-1.
Bernard Cher TH; Chan HS; Klein GF; Jabkowski J; Schadenböck-Kranzl G; Zach O; Roca X; Law SK
Biochem Biophys Res Commun; 2011 Jan; 404(4):1099-104. PubMed ID: 21195692
[TBL] [Abstract][Full Text] [Related]
19. Prenatal diagnosis of succinyl-coenzyme A:3-ketoacid coenzyme A transferase deficiency.
Fukao T; Song XQ; Watanabe H; Hirayama K; Sakazaki H; Shintaku H; Imanaka M; Orii T; Kondo N
Prenat Diagn; 1996 May; 16(5):471-4. PubMed ID: 8844009
[TBL] [Abstract][Full Text] [Related]
20. Combined partial exon skipping and cryptic splice site activation as a new molecular mechanism for recessive type 1 von Willebrand disease.
Gallinaro L; Sartorello F; Pontara E; Cattini MG; Bertomoro A; Bartoloni L; Pagnan A; Casonato A
Thromb Haemost; 2006 Dec; 96(6):711-6. PubMed ID: 17139363
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
