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Items: 1 to 20 of 306

1.
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. Epub 2006 Dec 13.

PMID:
17169596
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 1;68(2):144-51.

PMID:
10964512
4.
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. doi: 10.1002/humu.22258. Epub 2013 Jan 22.

PMID:
23281106
6.

Aberrantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiency.

Buesa C, Pié J, Barceló A, Casals N, Mascaró C, Casale CH, Haro D, Duran M, Smeitink JA, Hegardt FG.

J Lipid Res. 1996 Nov;37(11):2420-32.

7.
8.

Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient.

Kassovska-Bratinova S, Fukao T, Song XQ, Duncan AM, Chen HS, Robert MF, Pérez-Cerdá C, Ugarte M, Chartrand C, Vobecky S, Kondo N, Mitchell GA.

Am J Hum Genet. 1996 Sep;59(3):519-28.

9.

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.

PMID:
9671268
10.
11.

Germinal HPRT splice donor site mutation results in multiple RNA splicing products in T-lymphocyte cultures.

Hunter TC, Melancon SB, Dallaire L, Taft S, Skopek TR, Albertini RJ, O'Neill JP.

Somat Cell Mol Genet. 1996 Mar;22(2):145-50.

PMID:
8782493
12.

Computational analysis of splicing errors and mutations in human transcripts.

Kurmangaliyev YZ, Gelfand MS.

BMC Genomics. 2008 Jan 14;9:13. doi: 10.1186/1471-2164-9-13.

13.

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing.

Krawczak M, Thomas NS, Hundrieser B, Mort M, Wittig M, Hampe J, Cooper DN.

Hum Mutat. 2007 Feb;28(2):150-8.

PMID:
17001642
14.

Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I.

Takahara K, Schwarze U, Imamura Y, Hoffman GG, Toriello H, Smith LT, Byers PH, Greenspan DS.

Am J Hum Genet. 2002 Sep;71(3):451-65. Epub 2002 Jul 17.

15.
17.

The splicing determinants of a regulated exon in the axonal MAP tau reside within the exon and in its upstream intron.

Wei ML, Memmott J, Screaton G, Andreadis A.

Brain Res Mol Brain Res. 2000 Sep 15;80(2):207-18.

PMID:
11038253
18.

Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.

Schwarze U, Hata R, McKusick VA, Shinkai H, Hoyme HE, Pyeritz RE, Byers PH.

Am J Hum Genet. 2004 May;74(5):917-30. Epub 2004 Apr 9.

19.

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. doi: 10.1002/humu.20969.

PMID:
19280650
20.

Liver-specific silencing of the human gene encoding succinyl-CoA: 3-ketoacid CoA transferase.

Orii KE, Fukao T, Song XQ, Mitchell GA, Kondo N.

Tohoku J Exp Med. 2008 Jul;215(3):227-36.

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