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Items: 1 to 20 of 69

1.

Analysis of chromosomal radiosensitivity of healthy BRCA2 mutation carriers and non-carriers in BRCA families with the G2 micronucleus assay.

Baert A, Depuydt J, Van Maerken T, Poppe B, Malfait F, Van Damme T, De Nobele S, Perletti G, De Leeneer K, Claes KB, Vral A.

Oncol Rep. 2017 Mar;37(3):1379-1386. doi: 10.3892/or.2017.5407. Epub 2017 Jan 25.

2.

Distinct Brca1 Mutations Differentially Reduce Hematopoietic Stem Cell Function.

Mgbemena VE, Signer RA, Wijayatunge R, Laxson T, Morrison SJ, Ross TS.

Cell Rep. 2017 Jan 24;18(4):947-960. doi: 10.1016/j.celrep.2016.12.075.

3.

Reduced BRCA1 transcript levels in freshly isolated blood leukocytes from BRCA1 mutation carriers is mutation specific.

Chehade R, Pettapiece-Phillips R, Salmena L, Kotlyar M, Jurisica I, Narod SA, Akbari MR, Kotsopoulos J.

Breast Cancer Res. 2016 Aug 17;18(1):87. doi: 10.1186/s13058-016-0739-8.

4.

RING domain-deficient BRCA1 promotes PARP inhibitor and platinum resistance.

Wang Y, Krais JJ, Bernhardy AJ, Nicolas E, Cai KQ, Harrell MI, Kim HH, George E, Swisher EM, Simpkins F, Johnson N.

J Clin Invest. 2016 Aug 1;126(8):3145-57. doi: 10.1172/JCI87033. Epub 2016 Jul 25.

5.

BRCA1185delAG tumors may acquire therapy resistance through expression of RING-less BRCA1.

Drost R, Dhillon KK, van der Gulden H, van der Heijden I, Brandsma I, Cruz C, Chondronasiou D, Castroviejo-Bermejo M, Boon U, Schut E, van der Burg E, Wientjens E, Pieterse M, Klijn C, Klarenbeek S, Loayza-Puch F, Elkon R, van Deemter L, Rottenberg S, van de Ven M, Dekkers DH, Demmers JA, van Gent DC, Agami R, Balmaña J, Serra V, Taniguchi T, Bouwman P, Jonkers J.

J Clin Invest. 2016 Aug 1;126(8):2903-18. doi: 10.1172/JCI70196. Epub 2016 Jul 25.

6.

The BRCA1-Δ11q Alternative Splice Isoform Bypasses Germline Mutations and Promotes Therapeutic Resistance to PARP Inhibition and Cisplatin.

Wang Y, Bernhardy AJ, Cruz C, Krais JJ, Nacson J, Nicolas E, Peri S, van der Gulden H, van der Heijden I, O'Brien SW, Zhang Y, Harrell MI, Johnson SF, Candido Dos Reis FJ, Pharoah PD, Karlan B, Gourley C, Lambrechts D, Chenevix-Trench G, Olsson H, Benitez JJ, Greene MH, Gore M, Nussbaum R, Sadetzki S, Gayther SA, Kjaer SK; kConFab Investigators, D'Andrea AD, Shapiro GI, Wiest DL, Connolly DC, Daly MB, Swisher EM, Bouwman P, Jonkers J, Balmaña J, Serra V, Johnson N.

Cancer Res. 2016 May 1;76(9):2778-90. doi: 10.1158/0008-5472.CAN-16-0186.

7.

Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation.

Baert A, Depuydt J, Van Maerken T, Poppe B, Malfait F, Storm K, van den Ende J, Van Damme T, De Nobele S, Perletti G, De Leeneer K, Claes KB, Vral A.

Breast Cancer Res. 2016 May 17;18(1):52. doi: 10.1186/s13058-016-0709-1.

8.

Exon-skipping and mRNA decay in human liver tissue: molecular consequences of pathogenic bile salt export pump mutations.

Dröge C, Schaal H, Engelmann G, Wenning D, Häussinger D, Kubitz R.

Sci Rep. 2016 Apr 26;6:24827. doi: 10.1038/srep24827.

9.

Contribution of BRCA1 and BRCA2 Germline Mutations to Early Algerian Breast Cancer.

Henouda S, Bensalem A, Reggad R, Serrar N, Rouabah L, Pujol P.

Dis Markers. 2016;2016:7869095. doi: 10.1155/2016/7869095. Epub 2016 Feb 22.

10.

A BRCA1 deficient, NFκB driven immune signal predicts good outcome in triple negative breast cancer.

Buckley NE, Haddock P, De Matos Simoes R, Parkes E, Irwin G, Emmert-Streib F, McQuaid S, Kennedy R, Mullan P.

Oncotarget. 2016 Apr 12;7(15):19884-96. doi: 10.18632/oncotarget.7865.

11.

BRCA1 185delAG Mutation Enhances Interleukin-1β Expression in Ovarian Surface Epithelial Cells.

Woolery KT, Mohamed M, Linger RJ, Dobrinski KP, Roman J, Kruk PA.

Biomed Res Int. 2015;2015:652017. doi: 10.1155/2015/652017. Epub 2015 Aug 19.

12.

Stop-codon and C-terminal nonsense mutations are associated with a lower risk of cardiac events in patients with long QT syndrome type 1.

Ruwald MH, Xu Parks X, Moss AJ, Zareba W, Baman J, McNitt S, Kanters JK, Shimizu W, Wilde AA, Jons C, Lopes CM.

Heart Rhythm. 2016 Jan;13(1):122-31. doi: 10.1016/j.hrthm.2015.08.033. Epub 2015 Aug 28.

13.

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

Rebbeck TR, Mitra N, Wan F, Sinilnikova OM, Healey S, McGuffog L, Mazoyer S, Chenevix-Trench G, Easton DF, Antoniou AC, Nathanson KL; CIMBA Consortium, Laitman Y, Kushnir A, Paluch-Shimon S, Berger R, Zidan J, Friedman E, Ehrencrona H, Stenmark-Askmalm M, Einbeigi Z, Loman N, Harbst K, Rantala J, Melin B, Huo D, Olopade OI, Seldon J, Ganz PA, Nussbaum RL, Chan SB, Odunsi K, Gayther SA, Domchek SM, Arun BK, Lu KH, Mitchell G, Karlan BY, Walsh C, Lester J, Godwin AK, Pathak H, Ross E, Daly MB, Whittemore AS, John EM, Miron A, Terry MB, Chung WK, Goldgar DE, Buys SS, Janavicius R, Tihomirova L, Tung N, Dorfling CM, van Rensburg EJ, Steele L, Neuhausen SL, Ding YC, Ejlertsen B, Gerdes AM, Hansen Tv, Ramón y Cajal T, Osorio A, Benitez J, Godino J, Tejada MI, Duran M, Weitzel JN, Bobolis KA, Sand SR, Fontaine A, Savarese A, Pasini B, Peissel B, Bonanni B, Zaffaroni D, Vignolo-Lutati F, Scuvera G, Giannini G, Bernard L, Genuardi M, Radice P, Dolcetti R, Manoukian S, Pensotti V, Gismondi V, Yannoukakos D, Fostira F, Garber J, Torres D, Rashid MU, Hamann U, Peock S, Frost D, Platte R, Evans DG, Eeles R, Davidson R, Eccles D, Cole T, Cook J, Brewer C, Hodgson S, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Izatt L, Adlard J, Donaldson A, Ellis S, Sharma P, Schmutzler RK, Wappenschmidt B, Becker A, Rhiem K, Hahnen E, Engel C, Meindl A, Engert S, Ditsch N, Arnold N, Plendl HJ, Mundhenke C, Niederacher D, Fleisch M, Sutter C, Bartram CR, Dikow N, Wang-Gohrke S, Gadzicki D, Steinemann D, Kast K, Beer M, Varon-Mateeva R, Gehrig A, Weber BH, Stoppa-Lyonnet D, Sinilnikova OM, Mazoyer S, Houdayer C, Belotti M, Gauthier-Villars M, Damiola F, Boutry-Kryza N, Lasset C, Sobol H, Peyrat JP, Muller D, Fricker JP, Collonge-Rame MA, Mortemousque I, Nogues C, Rouleau E, Isaacs C, De Paepe A, Poppe B, Claes K, De Leeneer K, Piedmonte M, Rodriguez G, Wakely K, Boggess J, Blank SV, Basil J, Azodi M, Phillips KA, Caldes T, de la Hoya M, Romero A, Nevanlinna H, Aittomäki K, van der Hout AH, Hogervorst FB, Verhoef S, Collée JM, Seynaeve C, Oosterwijk JC, Gille JJ, Wijnen JT, Gómez Garcia EB, Kets CM, Ausems MG, Aalfs CM, Devilee P, Mensenkamp AR, Kwong A, Olah E, Papp J, Diez O, Lazaro C, Darder E, Blanco I, Salinas M, Jakubowska A, Lubinski J, Gronwald J, Jaworska-Bieniek K, Durda K, Sukiennicki G, Huzarski T, Byrski T, Cybulski C, Toloczko-Grabarek A, Złowocka-Perłowska E, Menkiszak J, Arason A, Barkardottir RB, Simard J, Laframboise R, Montagna M, Agata S, Alducci E, Peixoto A, Teixeira MR, Spurdle AB, Lee MH, Park SK, Kim SW, Friebel TM, Couch FJ, Lindor NM, Pankratz VS, Guidugli L, Wang X, Tischkowitz M, Foretova L, Vijai J, Offit K, Robson M, Rau-Murthy R, Kauff N, Fink-Retter A, Singer CF, Rappaport C, Gschwantler-Kaulich D, Pfeiler G, Tea MK, Berger A, Greene MH, Mai PL, Imyanitov EN, Toland AE, Senter L, Bojesen A, Pedersen IS, Skytte AB, Sunde L, Thomassen M, Moeller ST, Kruse TA, Jensen UB, Caligo MA, Aretini P, Teo SH, Selkirk CG, Hulick PJ, Andrulis I.

JAMA. 2015 Apr 7;313(13):1347-61. doi: 10.1001/jama.2014.5985. Erratum in: JAMA. 2015 Aug 11;314(6):628.

14.

Characterization of three alternative transcripts of the BRCA1 gene in patients with breast cancer and a family history of breast and/or ovarian cancer who tested negative for pathogenic mutations.

Gambino G, Tancredi M, Falaschi E, Aretini P, Caligo MA.

Int J Mol Med. 2015 Apr;35(4):950-6. doi: 10.3892/ijmm.2015.2103. Epub 2015 Feb 16.

15.

Aberrant recombination and repair during immunoglobulin class switching in BRCA1-deficient human B cells.

Björkman A, Qvist P, Du L, Bartish M, Zaravinos A, Georgiou K, Børglum AD, Gatti RA, Törngren T, Pan-Hammarström Q.

Proc Natl Acad Sci U S A. 2015 Feb 17;112(7):2157-62. doi: 10.1073/pnas.1418947112. Epub 2015 Feb 2.

16.

Nonsense-mediated decay in genetic disease: friend or foe?

Miller JN, Pearce DA.

Mutat Res Rev Mutat Res. 2014 Oct-Dec;762:52-64. doi: 10.1016/j.mrrev.2014.05.001. Epub 2014 May 28. Review.

17.

MicroRNA-mediated repression of nonsense mRNAs.

Zhao Y, Lin J, Xu B, Hu S, Zhang X, Wu L.

Elife. 2014 Aug 8;3:e03032. doi: 10.7554/eLife.03032.

18.

An atrial-fibrillation-linked connexin40 mutant is retained in the endoplasmic reticulum and impairs the function of atrial gap-junction channels.

Sun Y, Tong X, Chen H, Huang T, Shao Q, Huang W, Laird DW, Bai D.

Dis Model Mech. 2014 May;7(5):561-9. doi: 10.1242/dmm.013813. Epub 2014 Mar 13.

19.

Organizing principles of mammalian nonsense-mediated mRNA decay.

Popp MW, Maquat LE.

Annu Rev Genet. 2013;47:139-65. doi: 10.1146/annurev-genet-111212-133424. Review.

20.

Canine chondrodysplasia caused by a truncating mutation in collagen-binding integrin alpha subunit 10.

Kyöstilä K, Lappalainen AK, Lohi H.

PLoS One. 2013 Sep 25;8(9):e75621. doi: 10.1371/journal.pone.0075621. eCollection 2013.

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