484 related articles for article (PubMed ID: 22698810)
1. Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11.
Heintz C; Dobrowolski SF; Andersen HS; Demirkol M; Blau N; Andresen BS
Mol Genet Metab; 2012 Aug; 106(4):403-11. PubMed ID: 22698810
[TBL] [Abstract][Full Text] [Related]
2. The phenylalanine hydroxylase c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencer.
Dobrowolski SF; Andersen HS; Doktor TK; Andresen BS
Mol Genet Metab; 2010 Aug; 100(4):316-23. PubMed ID: 20457534
[TBL] [Abstract][Full Text] [Related]
3. Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site.
Martínez-Pizarro A; Dembic M; Pérez B; Andresen BS; Desviat LR
PLoS Genet; 2018 Apr; 14(4):e1007360. PubMed ID: 29684050
[TBL] [Abstract][Full Text] [Related]
4. Characterization of the mouse phenylalanine hydroxylase mutation Pah(enu3).
Haefele MJ; White G; McDonald JD
Mol Genet Metab; 2001 Jan; 72(1):27-30. PubMed ID: 11161825
[TBL] [Abstract][Full Text] [Related]
5. The splicing factor SRp20 modifies splicing of its own mRNA and ASF/SF2 antagonizes this regulation.
Jumaa H; Nielsen PJ
EMBO J; 1997 Aug; 16(16):5077-85. PubMed ID: 9305649
[TBL] [Abstract][Full Text] [Related]
6. Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.
Dobrowolski SF; Heintz C; Miller T; Ellingson C; Ellingson C; Ozer I; Gökçay G; Baykal T; Thöny B; Demirkol M; Blau N
Mol Genet Metab; 2011 Feb; 102(2):116-21. PubMed ID: 21147011
[TBL] [Abstract][Full Text] [Related]
7. Regulation of SRp20 exon 4 splicing.
Jumaa H; Nielsen PJ
Biochim Biophys Acta; 2000 Nov; 1494(1-2):137-43. PubMed ID: 11072076
[TBL] [Abstract][Full Text] [Related]
8. [Ten novel mutations in the phenylalanine hydroxylase gene identified in Chinese patients with phenylketonuria].
Song F; Jin YW; Wang H; Yang YL; Zhang YM; Zhang T
Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 2003 Apr; 25(2):142-4. PubMed ID: 12905706
[TBL] [Abstract][Full Text] [Related]
9. A silent mutation induces exon skipping in the phenylalanine hydroxylase gene in phenylketonuria.
Chao HK; Hsiao KJ; Su TS
Hum Genet; 2001 Jan; 108(1):14-9. PubMed ID: 11214902
[TBL] [Abstract][Full Text] [Related]
10. Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene.
Aznarez I; Chan EM; Zielenski J; Blencowe BJ; Tsui LC
Hum Mol Genet; 2003 Aug; 12(16):2031-40. PubMed ID: 12913074
[TBL] [Abstract][Full Text] [Related]
11. The spectrum of phenylketonuria genotypes in the Armenian population: identification of three novel mutant PAH alleles.
Kostandyan N; Britschgi C; Matevosyan A; Oganezova A; Davtyan A; Blau N; Steinmann B; Thöny B
Mol Genet Metab; 2011; 104 Suppl():S93-6. PubMed ID: 21890392
[TBL] [Abstract][Full Text] [Related]
12. Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuria.
Jennings IG; Cotton RG; Kobe B
Eur J Hum Genet; 2000 Sep; 8(9):683-96. PubMed ID: 10980574
[TBL] [Abstract][Full Text] [Related]
13. SRp20 and CUG-BP1 modulate insulin receptor exon 11 alternative splicing.
Sen S; Talukdar I; Webster NJ
Mol Cell Biol; 2009 Feb; 29(3):871-80. PubMed ID: 19047369
[TBL] [Abstract][Full Text] [Related]
14. A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.
Dobrowolski SF; Borski K; Ellingson CC; Koch R; Levy HL; Naylor EW
J Hum Genet; 2009 Jun; 54(6):335-9. PubMed ID: 19444284
[TBL] [Abstract][Full Text] [Related]
15. Tra2 beta, SF2/ASF and SRp30c modulate the function of an exonic splicing enhancer in exon 10 of tau pre-mRNA.
Kondo S; Yamamoto N; Murakami T; Okumura M; Mayeda A; Imaizumi K
Genes Cells; 2004 Feb; 9(2):121-30. PubMed ID: 15009090
[TBL] [Abstract][Full Text] [Related]
16. A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene.
Fukao T; Horikawa R; Naiki Y; Tanaka T; Takayanagi M; Yamaguchi S; Kondo N
Mol Genet Metab; 2010 Aug; 100(4):339-44. PubMed ID: 20488739
[TBL] [Abstract][Full Text] [Related]
17. Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.
Aretz S; Uhlhaas S; Sun Y; Pagenstecher C; Mangold E; Caspari R; Möslein G; Schulmann K; Propping P; Friedl W
Hum Mutat; 2004 Nov; 24(5):370-80. PubMed ID: 15459959
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Exonic splicing enhancers contribute to the use of both 3' and 5' splice site usage of rat beta-tropomyosin pre-mRNA.
Selvakumar M; Helfman DM
RNA; 1999 Mar; 5(3):378-94. PubMed ID: 10094307
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
