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Results: 1 to 20 of 130

1.

The human XPG gene: gene architecture, alternative splicing and single nucleotide polymorphisms.

Emmert S, Schneider TD, Khan SG, Kraemer KH.

Nucleic Acids Res. 2001 Apr 1;29(7):1443-52.

PMID:
11266544
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function.

Khan SG, Muniz-Medina V, Shahlavi T, Baker CC, Inui H, Ueda T, Emmert S, Schneider TD, Kraemer KH.

Nucleic Acids Res. 2002 Aug 15;30(16):3624-31.

PMID:
12177305
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Molecular cloning and structural analysis of the functional mouse genomic XPG gene.

Ludwig DL, Mudgett JS, Park MS, Perez-Castro AV, MacInnes MA.

Mamm Genome. 1996 Sep;7(9):644-9.

PMID:
8703115
[PubMed - indexed for MEDLINE]
4.

The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.

Lalle P, Nouspikel T, Constantinou A, Thorel F, Clarkson SG.

J Invest Dermatol. 2002 Feb;118(2):344-51.

PMID:
11841555
[PubMed - indexed for MEDLINE]
Free Article
5.

Alternative splicing in the human interleukin enhancer binding factor 3 (ILF3) gene.

Duchange N, Pidoux J, Camus E, Sauvaget D.

Gene. 2000 Dec 31;261(2):345-53.

PMID:
11167023
[PubMed - indexed for MEDLINE]
6.

Categorization and characterization of transcript-confirmed constitutively and alternatively spliced introns and exons from human.

Clark F, Thanaraj TA.

Hum Mol Genet. 2002 Feb 15;11(4):451-64.

PMID:
11854178
[PubMed - indexed for MEDLINE]
Free Article
7.

Definition of a short region of XPG necessary for TFIIH interaction and stable recruitment to sites of UV damage.

Thorel F, Constantinou A, Dunand-Sauthier I, Nouspikel T, Lalle P, Raams A, Jaspers NG, Vermeulen W, Shivji MK, Wood RD, Clarkson SG.

Mol Cell Biol. 2004 Dec;24(24):10670-80.

PMID:
15572672
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Human GC-AG alternative intron isoforms with weak donor sites show enhanced consensus at acceptor exon positions.

Thanaraj TA, Clark F.

Nucleic Acids Res. 2001 Jun 15;29(12):2581-93.

PMID:
11410667
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Genomic organization of the human beta-catenin gene (CTNNB1).

Nollet F, Berx G, Molemans F, van Roy F.

Genomics. 1996 Mar 15;32(3):413-24.

PMID:
8838805
[PubMed - indexed for MEDLINE]
10.

Study of the mitochondrial transcription factor A (Tfam) gene in the primate Presbytis cristata.

D'Errico I, Reyes A, Dinardo MM, Gadaleta G.

Gene. 2005 Jul 18;354:117-24.

PMID:
15978747
[PubMed - indexed for MEDLINE]
11.

Heritable genetic alterations in a xeroderma pigmentosum group G/Cockayne syndrome pedigree.

Okinaka RT, Perez-Castro AV, Sena A, Laubscher K, Strniste GF, Park MS, Hernandez R, MacInnes MA, Kraemer KH.

Mutat Res. 1997 Nov;385(2):107-14.

PMID:
9447232
[PubMed - indexed for MEDLINE]
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.

PMID:
9642100
[PubMed - indexed for MEDLINE]
13.

Alternative splicing and bioinformatic analysis of human U12-type introns.

Chang WC, Chen YC, Lee KM, Tarn WY.

Nucleic Acids Res. 2007;35(6):1833-41. Epub 2007 Mar 1.

PMID:
17332017
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Human transcription factor Sp3: genomic structure, identification of a processed pseudogene, and transcript analysis.

Moran KM, Crusio RH, Chan CH, Grekova MC, Richert JR.

Gene. 2004 Oct 27;341:235-47.

PMID:
15474306
[PubMed - indexed for MEDLINE]
15.

Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk.

Khan SG, Metin A, Gozukara E, Inui H, Shahlavi T, Muniz-Medina V, Baker CC, Ueda T, Aiken JR, Schneider TD, Kraemer KH.

Hum Mol Genet. 2004 Feb 1;13(3):343-52. Epub 2003 Dec 8.

PMID:
14662655
[PubMed - indexed for MEDLINE]
Free Article
16.

Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin.

Kobayashi K, Sasaki J, Kondo-Iida E, Fukuda Y, Kinoshita M, Sunada Y, Nakamura Y, Toda T.

FEBS Lett. 2001 Feb 2;489(2-3):192-6.

PMID:
11165248
[PubMed - indexed for MEDLINE]
Free Article
17.

The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site.

Mumm S, Zhang X, Vacca M, D'Esposito M, Whyte MP.

Gene. 2001 Aug 8;273(2):285-93.

PMID:
11595175
[PubMed - indexed for MEDLINE]
18.

Genomic organisation of the human MDM2 oncogene and relationship to its alternatively spliced mRNAs.

Liang H, Atkins H, Abdel-Fattah R, Jones SN, Lunec J.

Gene. 2004 Sep 1;338(2):217-23.

PMID:
15315825
[PubMed - indexed for MEDLINE]
19.

The genomic structure of the human SPEC1 gene reveals complex splicing and close promoter proximity to the AF1q translocation gene.

Pirone DM, Oberst MD, Stylianou D, Burbelo PD.

Gene. 2001 Aug 8;273(2):295-303.

PMID:
11595176
[PubMed - indexed for MEDLINE]
20.

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 Jr.

J Lipid Res. 1996 Oct;37(10):2065-73.

PMID:
8906584
[PubMed - indexed for MEDLINE]
Free Article
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