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Items: 1 to 20 of 304

1.

Multiple sequence variants of BRCA2 exon 7 alter splicing regulation.

Gaildrat P, Krieger S, Di Giacomo D, Abdat J, Révillion F, Caputo S, Vaur D, Jamard E, Bohers E, Ledemeney D, Peyrat JP, Houdayer C, Rouleau E, Lidereau R, Frébourg T, Hardouin A, Tosi M, Martins A.

J Med Genet. 2012 Oct;49(10):609-17. doi: 10.1136/jmedgenet-2012-100965. Epub 2012 Sep 7.

PMID:
22962691
2.

Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements.

Di Giacomo D, Gaildrat P, Abuli A, Abdat J, Frébourg T, Tosi M, Martins A.

Hum Mutat. 2013 Nov;34(11):1547-57. doi: 10.1002/humu.22428. Epub 2013 Sep 18.

PMID:
23983145
3.

Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene.

Bonnet C, Krieger S, Vezain M, Rousselin A, Tournier I, Martins A, Berthet P, Chevrier A, Dugast C, Layet V, Rossi A, Lidereau R, Frébourg T, Hardouin A, Tosi M.

J Med Genet. 2008 Jul;45(7):438-46. doi: 10.1136/jmg.2007.056895. Epub 2008 Apr 18.

PMID:
18424508
4.

Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes.

Théry JC, Krieger S, Gaildrat P, Révillion F, Buisine MP, Killian A, Duponchel C, Rousselin A, Vaur D, Peyrat JP, Berthet P, Frébourg T, Martins A, Hardouin A, Tosi M.

Eur J Hum Genet. 2011 Oct;19(10):1052-8. doi: 10.1038/ejhg.2011.100. Epub 2011 Jun 15.

5.

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.

6.

Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes.

Acedo A, Sanz DJ, Durán M, Infante M, Pérez-Cabornero L, Miner C, Velasco EA.

Breast Cancer Res. 2012 May 25;14(3):R87.

7.

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.

8.

Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts.

Whiley PJ, Pettigrew CA, Brewster BL, Walker LC; kConFab Investigators, Spurdle AB, Brown MA.

BMC Med Genet. 2010 May 28;11:80. doi: 10.1186/1471-2350-11-80.

9.

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
10.

Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.

Zatkova A, Messiaen L, Vandenbroucke I, Wieser R, Fonatsch C, Krainer AR, Wimmer K.

Hum Mutat. 2004 Dec;24(6):491-501.

PMID:
15523642
11.

Regulation of murine survival motor neuron (Smn) protein levels by modifying Smn exon 7 splicing.

DiDonato CJ, Lorson CL, De Repentigny Y, Simard L, Chartrand C, Androphy EJ, Kothary R.

Hum Mol Genet. 2001 Nov 1;10(23):2727-36.

PMID:
11726560
12.

Colocalisation of predicted exonic splicing enhancers in BRCA2 with reported sequence variants.

Pettigrew CA, Wayte N, Wronski A, Lovelock PK, Spurdle AB, Brown MA.

Breast Cancer Res Treat. 2008 Jul;110(2):227-34. Epub 2007 Sep 26.

PMID:
17899372
13.

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
15.

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
16.

The effect of disease-associated HRPT2 mutations on splicing.

Hahn MA, McDonnell J, Marsh DJ.

J Endocrinol. 2009 Jun;201(3):387-96. doi: 10.1677/JOE-09-0038. Epub 2009 Mar 30.

17.

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.

Thomassen M, Blanco A, Montagna M, Hansen TV, Pedersen IS, Gutiérrez-Enríquez S, Menéndez M, Fachal L, Santamariña M, Steffensen AY, Jønson L, Agata S, Whiley P, Tognazzo S, Tornero E, Jensen UB, Balmaña J, Kruse TA, Goldgar DE, Lázaro C, Diez O, Spurdle AB, Vega A.

Breast Cancer Res Treat. 2012 Apr;132(3):1009-23. doi: 10.1007/s10549-011-1674-0. Epub 2011 Jul 19.

PMID:
21769658
18.

RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain.

Campos B, Díez O, Domènech M, Baena M, Balmaña J, Sanz J, Ramírez A, Alonso C, Baiget M.

Hum Mutat. 2003 Oct;22(4):337.

PMID:
12955719
19.

Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.

Fraile-Bethencourt E, Díez-Gómez B, Velásquez-Zapata V, Acedo A, Sanz DJ, Velasco EA.

PLoS Genet. 2017 Mar 24;13(3):e1006691. doi: 10.1371/journal.pgen.1006691. eCollection 2017 Mar.

20.

RNA-based analysis of BRCA1 and BRCA2 gene alterations.

Bonatti F, Pepe C, Tancredi M, Lombardi G, Aretini P, Sensi E, Falaschi E, Cipollini G, Bevilacqua G, Caligo MA.

Cancer Genet Cytogenet. 2006 Oct 15;170(2):93-101.

PMID:
17011978

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