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Results: 1 to 20 of 103

Similar articles for PubMed (Select 20457534)

1.

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. doi: 10.1016/j.ymgme.2010.04.002. Epub 2010 Apr 14.

PMID:
20457534
2.

The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency.

Olsen RK, Brøner S, Sabaratnam R, Doktor TK, Andersen HS, Bruun GH, Gahrn B, Stenbroen V, Olpin SE, Dobbie A, Gregersen N, Andresen BS.

Hum Mutat. 2014 Jan;35(1):86-95. doi: 10.1002/humu.22455. Epub 2013 Oct 28.

PMID:
24123825
3.

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. doi: 10.1016/j.ymgme.2012.05.013. Epub 2012 May 29.

PMID:
22698810
4.

Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer.

Nielsen KB, Sørensen S, Cartegni L, Corydon TJ, Doktor TK, Schroeder LD, Reinert LS, Elpeleg O, Krainer AR, Gregersen N, Kjems J, Andresen BS.

Am J Hum Genet. 2007 Mar;80(3):416-32. Epub 2007 Jan 18. Erratum in: Am J Hum Genet. 2007 Apr;80(4):816.

5.

An intronic polypyrimidine-rich element downstream of the donor site modulates cystic fibrosis transmembrane conductance regulator exon 9 alternative splicing.

Zuccato E, Buratti E, Stuani C, Baralle FE, Pagani F.

J Biol Chem. 2004 Apr 23;279(17):16980-8. Epub 2004 Feb 13.

6.

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. doi: 10.1128/MCB.01709-08. Epub 2008 Dec 1.

7.

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. doi: 10.1016/j.ymgme.2010.03.012. Epub 2010 Mar 19.

PMID:
20488739
8.

Muscle-specific exonic splicing silencer for exon exclusion in human ATP synthase gamma-subunit pre-mRNA.

Hayakawa M, Sakashita E, Ueno E, Tominaga S, Hamamoto T, Kagawa Y, Endo H.

J Biol Chem. 2002 Mar 1;277(9):6974-84. Epub 2001 Dec 13.

9.

A disease-associated polymorphism alters splicing of the human CD45 phosphatase gene by disrupting combinatorial repression by heterogeneous nuclear ribonucleoproteins (hnRNPs).

Motta-Mena LB, Smith SA, Mallory MJ, Jackson J, Wang J, Lynch KW.

J Biol Chem. 2011 Jun 3;286(22):20043-53. doi: 10.1074/jbc.M111.218727. Epub 2011 Apr 20.

10.

Systematic identification and analysis of exonic splicing silencers.

Wang Z, Rolish ME, Yeo G, Tung V, Mawson M, Burge CB.

Cell. 2004 Dec 17;119(6):831-45.

PMID:
15607979
11.

HnRNP L-mediated regulation of mammalian alternative splicing by interference with splice site recognition.

Heiner M, Hui J, Schreiner S, Hung LH, Bindereif A.

RNA Biol. 2010 Jan-Feb;7(1):56-64. Epub 2010 Jan 21.

12.

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.

PMID:
15459959
13.

Identification of an exonic splicing silencer in exon 6A of the human VEGF gene.

Wang R, Crystal RG, Hackett NR.

BMC Mol Biol. 2009 Nov 17;10:103. doi: 10.1186/1471-2199-10-103.

14.

The BRCA1 c.5434C->G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements.

Gaildrat P, Krieger S, Théry JC, Killian A, Rousselin A, Berthet P, Frébourg T, Hardouin A, Martins A, Tosi M.

J Med Genet. 2010 Jun;47(6):398-403. doi: 10.1136/jmg.2009.074047.

PMID:
20522429
15.
16.

The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles.

Steiner B, Truninger K, Sanz J, Schaller A, Gallati S.

Hum Mutat. 2004 Aug;24(2):120-9.

PMID:
15241793
17.

hnRNP H and hnRNP F complex with Fox2 to silence fibroblast growth factor receptor 2 exon IIIc.

Mauger DM, Lin C, Garcia-Blanco MA.

Mol Cell Biol. 2008 Sep;28(17):5403-19. doi: 10.1128/MCB.00739-08. Epub 2008 Jun 23.

18.

An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements.

Disset A, Bourgeois CF, Benmalek N, Claustres M, Stevenin J, Tuffery-Giraud S.

Hum Mol Genet. 2006 Mar 15;15(6):999-1013. Epub 2006 Feb 6.

19.

Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.

Pagani F, Buratti E, Stuani C, Baralle FE.

J Biol Chem. 2003 Jul 18;278(29):26580-8. Epub 2003 May 5.

20.

Loss of exon identity is a common mechanism of human inherited disease.

Sterne-Weiler T, Howard J, Mort M, Cooper DN, Sanford JR.

Genome Res. 2011 Oct;21(10):1563-71. doi: 10.1101/gr.118638.110. Epub 2011 Jul 12.

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