195 related articles for article (PubMed ID: 9921904)
1. A mutation (IVS8+0.6kbdelTC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human beta-glucuronidase gene.
Vervoort R; Gitzelmann R; Lissens W; Liebaers I
Hum Genet; 1998 Dec; 103(6):686-93. PubMed ID: 9921904
[TBL] [Abstract][Full Text] [Related]
2. Exon 10 skipping caused by intron 10 splice donor site mutation in cholesteryl ester transfer protein gene results in abnormal downstream splice site selection.
Sakai N; Santamarina-Fojo S; Yamashita S; Matsuzawa Y; Brewer HB
J Lipid Res; 1996 Oct; 37(10):2065-73. PubMed ID: 8906584
[TBL] [Abstract][Full Text] [Related]
3. Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site.
Yamada S; Tomatsu S; Sly WS; Islam R; Wenger DA; Fukuda S; Sukegawa K; Orii T
Hum Mol Genet; 1995 Apr; 4(4):651-5. PubMed ID: 7633414
[TBL] [Abstract][Full Text] [Related]
4. Mutations that alter RNA splicing of the human HPRT gene: a review of the spectrum.
O'Neill JP; Rogan PK; Cariello N; Nicklas JA
Mutat Res; 1998 Nov; 411(3):179-214. PubMed ID: 9804951
[TBL] [Abstract][Full Text] [Related]
5. Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences.
Mayer K; Ballhausen W; Leistner W; Rott H
Biochim Biophys Acta; 2000 Nov; 1502(3):495-507. PubMed ID: 11068191
[TBL] [Abstract][Full Text] [Related]
6. Familial hypercholesterolemia. Acceptor splice site (G-->C) mutation in intron 7 of the LDL-R gene: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-R(Honduras-1) [LDL-R1061(-1) G-->C].
Yu L; Heere-Ress E; Boucher B; Defesche JC; Kastelein J; Lavoie MA; Genest J
Atherosclerosis; 1999 Sep; 146(1):125-31. PubMed ID: 10487495
[TBL] [Abstract][Full Text] [Related]
7. Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation.
Schwarze U; Starman BJ; Byers PH
Am J Hum Genet; 1999 Aug; 65(2):336-44. PubMed ID: 10417276
[TBL] [Abstract][Full Text] [Related]
8. A single-base-pair deletion in the beta-glucuronidase gene accounts for the phenotype of murine mucopolysaccharidosis type VII.
Sands MS; Birkenmeier EH
Proc Natl Acad Sci U S A; 1993 Jul; 90(14):6567-71. PubMed ID: 8101990
[TBL] [Abstract][Full Text] [Related]
9. Gaucher disease: A G+1----A+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA.
He GS; Grabowski GA
Am J Hum Genet; 1992 Oct; 51(4):810-20. PubMed ID: 1415223
[TBL] [Abstract][Full Text] [Related]
10. Characterization of hprt splicing mutations induced by the ultimate carcinogenic metabolite of benzo[a]pyrene in Chinese hamster V-79 cells.
Hennig EE; Conney AH; Wei SJ
Cancer Res; 1995 Apr; 55(7):1550-8. PubMed ID: 7882364
[TBL] [Abstract][Full Text] [Related]
11. Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease.
Fujimaru M; Tanaka A; Choeh K; Wakamatsu N; Sakuraba H; Isshiki G
Hum Genet; 1998 Oct; 103(4):462-9. PubMed ID: 9856491
[TBL] [Abstract][Full Text] [Related]
12. The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms.
Lee PL; Gelbart T; West C; Halloran C; Beutler E
Blood Cells Mol Dis; 1998 Jun; 24(2):199-215. PubMed ID: 9642100
[TBL] [Abstract][Full Text] [Related]
13. Intronic antisense Alu elements have a negative splicing effect on the inclusion of adjacent downstream exons.
Nakama M; Otsuka H; Ago Y; Sasai H; Abdelkreem E; Aoyama Y; Fukao T
Gene; 2018 Jul; 664():84-89. PubMed ID: 29698748
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Neuronal SH-SY5Y cells use the C-dystrophin promoter coupled with exon 78 skipping and display multiple patterns of alternative splicing including two intronic insertion events.
Nishida A; Minegishi M; Takeuchi A; Awano H; Niba ET; Matsuo M
Hum Genet; 2015 Sep; 134(9):993-1001. PubMed ID: 26152642
[TBL] [Abstract][Full Text] [Related]
16. A 5' splice site mutation affecting the pre-mRNA splicing of two upstream exons in the collagen COL1A1 gene. Exon 8 skipping and altered definition of exon 7 generates truncated pro alpha 1(I) chains with a non-collagenous insertion destabilizing the triple helix.
Bateman JF; Chan D; Moeller I; Hannagan M; Cole WG
Biochem J; 1994 Sep; 302 ( Pt 3)(Pt 3):729-35. PubMed ID: 7945197
[TBL] [Abstract][Full Text] [Related]
17. 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]
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. PubMed ID: 15077201
[TBL] [Abstract][Full Text] [Related]
19. Hypobetalipoproteinemia due to an apolipoprotein B gene exon 21 deletion derived by Alu-Alu recombination.
Huang LS; Ripps ME; Korman SH; Deckelbaum RJ; Breslow JL
J Biol Chem; 1989 Jul; 264(19):11394-400. PubMed ID: 2567736
[TBL] [Abstract][Full Text] [Related]
20. Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes.
Shipley JM; Klinkenberg M; Wu BM; Bachinsky DR; Grubb JH; Sly WS
Am J Hum Genet; 1993 Mar; 52(3):517-26. PubMed ID: 7680524
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
