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Results: 1 to 20 of 49

1.

Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families.

Tesoriero AA, Wong EM, Jenkins MA, Hopper JL, Brown MA, Chenevix-Trench G, Spurdle AB, Southey MC; kConFab.

Hum Mutat. 2005 Nov;26(5):495. Erratum in: Hum Mutat. 2014 Apr;35(4):511.

PMID:
16211554
[PubMed - indexed for MEDLINE]
2.

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral.

Tavtigian SV, Deffenbaugh AM, Yin L, Judkins T, Scholl T, Samollow PB, de Silva D, Zharkikh A, Thomas A.

J Med Genet. 2006 Apr;43(4):295-305. Epub 2005 Jul 13.

PMID:
16014699
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants.

Lovelock PK, Healey S, Au W, Sum EY, Tesoriero A, Wong EM, Hinson S, Brinkworth R, Bekessy A, Diez O, Izatt L, Solomon E, Jenkins M, Renard H, Hopper J, Waring P, Tavtigian SV, Goldgar D, Lindeman GJ, Visvader JE, Couch FJ, Henderson BR, Southey M, Chenevix-Trench G, Spurdle AB, Brown MA; kConFab Investigators.

J Med Genet. 2006 Jan;43(1):74-83. Epub 2005 May 27.

PMID:
15923272
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Exonic splicing enhancers in fission yeast: functional conservation demonstrates an early evolutionary origin.

Webb CJ, Romfo CM, van Heeckeren WJ, Wise JA.

Genes Dev. 2005 Jan 15;19(2):242-54. Epub 2004 Dec 29.

PMID:
15625190
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Variation in sequence and organization of splicing regulatory elements in vertebrate genes.

Yeo G, Hoon S, Venkatesh B, Burge CB.

Proc Natl Acad Sci U S A. 2004 Nov 2;101(44):15700-5. Epub 2004 Oct 25.

PMID:
15505203
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Missense mutations in cancer suppressor gene TP53 are colocalized with exonic splicing enhancers (ESEs).

Gorlov IP, Gorlova OY, Frazier ML, Amos CI.

Mutat Res. 2004 Oct 4;554(1-2):175-83.

PMID:
15450416
[PubMed - indexed for MEDLINE]
7.

Identification of BRCA1-IRIS, a BRCA1 locus product.

ElShamy WM, Livingston DM.

Nat Cell Biol. 2004 Oct;6(10):954-67. Epub 2004 Sep 26.

PMID:
15448696
[PubMed - indexed for MEDLINE]
8.

Regulation of human p53 activity and cell localization by alternative splicing.

Ghosh A, Stewart D, Matlashewski G.

Mol Cell Biol. 2004 Sep;24(18):7987-97.

PMID:
15340061
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2.

Goldgar DE, Easton DF, Deffenbaugh AM, Monteiro AN, Tavtigian SV, Couch FJ; Breast Cancer Information Core (BIC) Steering Committee.

Am J Hum Genet. 2004 Oct;75(4):535-44. Epub 2004 Aug 2.

PMID:
15290653
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons.

Fairbrother WG, Yeo GW, Yeh R, Goldstein P, Mawson M, Sharp PA, Burge CB.

Nucleic Acids Res. 2004 Jul 1;32(Web Server issue):W187-90.

PMID:
15215377
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

3DCoffee@igs: a web server for combining sequences and structures into a multiple sequence alignment.

Poirot O, Suhre K, Abergel C, O'Toole E, Notredame C.

Nucleic Acids Res. 2004 Jul 1;32(Web Server issue):W37-40.

PMID:
15215345
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition.

Mirkovic N, Marti-Renom MA, Weber BL, Sali A, Monteiro AN.

Cancer Res. 2004 Jun 1;64(11):3790-7.

PMID:
15172985
[PubMed - indexed for MEDLINE]
Free Article
13.

Genomic variants in exons and introns: identifying the splicing spoilers.

Pagani F, Baralle FE.

Nat Rev Genet. 2004 May;5(5):389-96. Review. No abstract available.

PMID:
15168696
[PubMed - indexed for MEDLINE]
14.

Structure of the BRCT repeats of BRCA1 bound to a BACH1 phosphopeptide: implications for signaling.

Shiozaki EN, Gu L, Yan N, Shi Y.

Mol Cell. 2004 May 7;14(3):405-12.

PMID:
15125843
[PubMed - indexed for MEDLINE]
Free Article
15.

Missense mutations in hMLH1 and hMSH2 are associated with exonic splicing enhancers.

Gorlov IP, Gorlova OY, Frazier ML, Amos CI.

Am J Hum Genet. 2003 Nov;73(5):1157-61. Epub 2003 Oct 1.

PMID:
14526391
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

A biochemical analysis demonstrates that the BRCA1 intronic variant IVS10-2A--> C is a mutation.

Keaton JC, Nielsen DR, Hendrickson BC, Pyne MT, Scheuer L, Ward BE, Brothman AR, Scholl T.

J Hum Genet. 2003;48(8):399-403.

PMID:
14513821
[PubMed - indexed for MEDLINE]
17.

Bovine BRCA1 shows classic responses to genotoxic stress but low in vitro transcriptional activation activity.

Krum SA, Womack JE, Lane TF.

Oncogene. 2003 Sep 4;22(38):6032-44.

PMID:
12955082
[PubMed - indexed for MEDLINE]
18.

Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model.

Yang Y, Swaminathan S, Martin BK, Sharan SK.

Hum Mol Genet. 2003 Sep 1;12(17):2121-31. Epub 2003 Jul 8.

PMID:
12915465
[PubMed - indexed for MEDLINE]
Free Article
19.

Emerging roles of BRCA1 alternative splicing.

Orban TI, Olah E.

Mol Pathol. 2003 Aug;56(4):191-7. Review.

PMID:
12890739
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

SIFT: Predicting amino acid changes that affect protein function.

Ng PC, Henikoff S.

Nucleic Acids Res. 2003 Jul 1;31(13):3812-4.

PMID:
12824425
[PubMed - indexed for MEDLINE]
Free PMC Article

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