BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

178 related articles for article (PubMed ID: 24302565)

  • 21. Excision of the first intron from the gonadotropin-releasing hormone (GnRH) transcript serves as a key regulatory step for GnRH biosynthesis.
    Son GH; Jung H; Seong JY; Choe Y; Geum D; Kim K
    J Biol Chem; 2003 May; 278(20):18037-44. PubMed ID: 12639969
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Detailed characterization of MLH1 p.D41H and p.N710D variants coexisting in a Lynch syndrome family with conserved MLH1 expression tumors.
    Pineda M; González-Acosta M; Thompson BA; Sánchez R; Gómez C; Martínez-López J; Perea J; Caldés T; Rodríguez Y; Landolfi S; Balmaña J; Lázaro C; Robles L; Capellá G; Rueda D
    Clin Genet; 2015 Jun; 87(6):543-8. PubMed ID: 25060679
    [TBL] [Abstract][Full Text] [Related]  

  • 23. MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing.
    Piñero TA; Soukarieh O; Rolain M; Alvarez K; López-Köstner F; Torrezan GT; Carraro DM; De Oliveira Nascimento IL; Bomfim TF; Machado-Lopes TMB; Freitas JC; Toralles MB; Sandes KA; Rossi BM; Junior SA; Meira J; Dominguez-Valentin M; Møller P; Vaccaro CA; Martins A; Pavicic WH
    Fam Cancer; 2020 Oct; 19(4):323-336. PubMed ID: 32363481
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exons.
    Acedo A; Hernández-Moro C; Curiel-García Á; Díez-Gómez B; Velasco EA
    Hum Mutat; 2015 Feb; 36(2):210-21. PubMed ID: 25382762
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Alternative Translation Initiation of a Haloarchaeal Serine Protease Transcript Containing Two In-Frame Start Codons.
    Tang W; Wu Y; Li M; Wang J; Mei S; Tang B; Tang XF
    J Bacteriol; 2016 Jul; 198(13):1892-901. PubMed ID: 27137502
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
    Takahashi M; Shimodaira H; Andreutti-Zaugg C; Iggo R; Kolodner RD; Ishioka C
    Cancer Res; 2007 May; 67(10):4595-604. PubMed ID: 17510385
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Multivariate analysis of MLH1 c.1664T>C (p.Leu555Pro) mismatch repair gene variant demonstrates its pathogenicity.
    Farrell MP; Hughes DJ; Drost M; Wallace AJ; Cummins RJ; Fletcher TA; Meany MA; Kay EW; de Wind N; Power DG; Andrews EJ; Green AJ; Gallagher DJ
    Fam Cancer; 2013 Dec; 12(4):741-7. PubMed ID: 23712482
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Comprehensive functional assessment of MLH1 variants of unknown significance.
    Borràs E; Pineda M; Brieger A; Hinrichsen I; Gómez C; Navarro M; Balmaña J; Ramón y Cajal T; Torres A; Brunet J; Blanco I; Plotz G; Lázaro C; Capellá G
    Hum Mutat; 2012 Nov; 33(11):1576-88. PubMed ID: 22736432
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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. PubMed ID: 18424508
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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. PubMed ID: 21673748
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A nonsense mutation in MLH1 causes exon skipping in three unrelated HNPCC families.
    Stella A; Wagner A; Shito K; Lipkin SM; Watson P; Guanti G; Lynch HT; Fodde R; Liu B
    Cancer Res; 2001 Oct; 61(19):7020-4. PubMed ID: 11585727
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Characterisation of the mulibrey nanism-associated TRIM37 gene: transcription initiation, promoter region and alternative splicing.
    Hämäläinen RH; Joensuu T; Kallijärvi J; Lehesjoki AE
    Gene; 2006 Jan; 366(1):180-8. PubMed ID: 16310976
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays.
    Fraile-Bethencourt E; Valenzuela-Palomo A; Díez-Gómez B; Goina E; Acedo A; Buratti E; Velasco EA
    J Pathol; 2019 Aug; 248(4):409-420. PubMed ID: 30883759
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.
    Soukarieh O; Gaildrat P; Hamieh M; Drouet A; Baert-Desurmont S; Frébourg T; Tosi M; Martins A
    PLoS Genet; 2016 Jan; 12(1):e1005756. PubMed ID: 26761715
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Lynch syndrome associated with two MLH1 promoter variants and allelic imbalance of MLH1 expression.
    Hesson LB; Packham D; Kwok CT; Nunez AC; Ng B; Schmidt C; Fields M; Wong JW; Sloane MA; Ward RL
    Hum Mutat; 2015 Jun; 36(6):622-30. PubMed ID: 25762362
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Skipping Nonsense to Maintain Function: The Paradigm of
    Meulemans L; Mesman RLS; Caputo SM; Krieger S; Guillaud-Bataille M; Caux-Moncoutier V; Léone M; Boutry-Kryza N; Sokolowska J; Révillion F; Delnatte C; Tubeuf H; Soukarieh O; Bonnet-Dorion F; Guibert V; Bronner M; Bourdon V; Lizard S; Vilquin P; Privat M; Drouet A; Grout C; Calléja FMGR; Golmard L; Vrieling H; Stoppa-Lyonnet D; Houdayer C; Frebourg T; Vreeswijk MPG; Martins A; Gaildrat P
    Cancer Res; 2020 Apr; 80(7):1374-1386. PubMed ID: 32046981
    [TBL] [Abstract][Full Text] [Related]  

  • 37. The implications of BRCA loss of heterozygosity (LOH) and deficient mismatch repair gene (dMMR) expression in the breast cancer of a patient with both inherited breast and ovarian cancer syndrome (BRCA2) and Lynch syndrome (MLH1).
    Sorscher S; Ansley K; Delaney SD; Ramkissoon S
    Breast Cancer Res Treat; 2020 Apr; 180(2):511-514. PubMed ID: 32040686
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals.
    Valentin MD; da Silva FC; dos Santos EM; Lisboa BG; de Oliveira LP; Ferreira Fde O; Gomy I; Nakagawa WT; Aguiar Junior S; Redal M; Vaccaro C; Valle AD; Sarroca C; Carraro DM; Rossi BM
    Fam Cancer; 2011 Dec; 10(4):641-7. PubMed ID: 21681552
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis.
    Hinrichsen I; Schäfer D; Langer D; Köger N; Wittmann M; Aretz S; Steinke V; Holzapfel S; Trojan J; König R; Zeuzem S; Brieger A; Plotz G
    Carcinogenesis; 2015 Feb; 36(2):202-11. PubMed ID: 25477341
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Germline MLH1 Mutations Are Frequently Identified in Lynch Syndrome Patients With Colorectal and Endometrial Carcinoma Demonstrating Isolated Loss of PMS2 Immunohistochemical Expression.
    Dudley B; Brand RE; Thull D; Bahary N; Nikiforova MN; Pai RK
    Am J Surg Pathol; 2015 Aug; 39(8):1114-20. PubMed ID: 25871621
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.