BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

98 related articles for article (PubMed ID: 28994706)

  • 21. 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. PubMed ID: 22962691
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Rapid functional analysis of computationally complex rare human IRF6 gene variants using a novel zebrafish model.
    Li EB; Truong D; Hallett SA; Mukherjee K; Schutte BC; Liao EC
    PLoS Genet; 2017 Sep; 13(9):e1007009. PubMed ID: 28945736
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis.
    Király O; Boulling A; Witt H; Le Maréchal C; Chen JM; Rosendahl J; Battaggia C; Wartmann T; Sahin-Tóth M; Férec C
    Hum Mutat; 2007 May; 28(5):469-76. PubMed ID: 17274009
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene.
    Boulling A; Le Maréchal C; Trouvé P; Raguénès O; Chen JM; Férec C
    Eur J Hum Genet; 2007 Sep; 15(9):936-42. PubMed ID: 17568390
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Human cationic trypsinogen but not serine peptidase inhibitor, Kazal type 1 variants increase the risk of type 1 autoimmune pancreatitis.
    Chang MC; Jan IS; Liang PC; Jeng YM; Yang CY; Tien YW; Wong JM; Chang YT
    J Gastroenterol Hepatol; 2014 Dec; 29(12):2038-42. PubMed ID: 24909264
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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. PubMed ID: 15523642
    [TBL] [Abstract][Full Text] [Related]  

  • 27. High prevalence of the c.74A>C SPINK1 variant in miniature and standard Schnauzers.
    Furrow E; Armstrong PJ; Patterson EE
    J Vet Intern Med; 2012; 26(6):1295-9. PubMed ID: 23061724
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitis.
    Masson E; Le Maréchal C; Levy P; Chuzhanova N; Ruszniewski P; Cooper DN; Chen JM; Férec C
    Mol Genet Metab; 2007; 92(1-2):168-75. PubMed ID: 17681820
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Splicing defects caused by exonic mutations in PKD1 as a new mechanism of pathogenesis in autosomal dominant polycystic kidney disease.
    Claverie-Martin F; Gonzalez-Paredes FJ; Ramos-Trujillo E
    RNA Biol; 2015; 12(4):369-74. PubMed ID: 25757501
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.
    Auclair J; Busine MP; Navarro C; Ruano E; Montmain G; Desseigne F; Saurin JC; Lasset C; Bonadona V; Giraud S; Puisieux A; Wang Q
    Hum Mutat; 2006 Feb; 27(2):145-54. PubMed ID: 16395668
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Is the SPINK1 variant p.N34S overrepresented in patients with acute pancreatitis?
    Jøergensen MT; Brusgaard K; Novovic S; Andersen AM; Hansen MB; Gerdes AM; de Muckadell OB
    Eur J Gastroenterol Hepatol; 2012 Mar; 24(3):309-15. PubMed ID: 22228370
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Alternative splicing of CYP2D mRNA in human breast tissue.
    Huang Z; Fasco MJ; Kaminsky LS
    Arch Biochem Biophys; 1997 Jul; 343(1):101-8. PubMed ID: 9210651
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Use of splicing reporter minigene assay to evaluate the effect on splicing of unclassified genetic variants.
    Gaildrat P; Killian A; Martins A; Tournier I; Frébourg T; Tosi M
    Methods Mol Biol; 2010; 653():249-57. PubMed ID: 20721748
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.
    van der Klift HM; Jansen AM; van der Steenstraten N; Bik EC; Tops CM; Devilee P; Wijnen JT
    Mol Genet Genomic Med; 2015 Jul; 3(4):327-45. PubMed ID: 26247049
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic.
    Ahlborn LB; Dandanell M; Steffensen AY; Jønson L; Nielsen FC; Hansen TV
    Breast Cancer Res Treat; 2015 Apr; 150(2):289-98. PubMed ID: 25724305
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphisms.
    Pettigrew C; Wayte N; Lovelock PK; Tavtigian SV; Chenevix-Trench G; Spurdle AB; Brown MA
    Breast Cancer Res; 2005; 7(6):R929-39. PubMed ID: 16280041
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Tropical calcific pancreatitis and its association with CTRC and SPINK1 (p.N34S) variants.
    Derikx MH; Szmola R; te Morsche RH; Sunderasan S; Chacko A; Drenth JP
    Eur J Gastroenterol Hepatol; 2009 Aug; 21(8):889-94. PubMed ID: 19404200
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
    Tournier I; Vezain M; Martins A; Charbonnier F; Baert-Desurmont S; Olschwang S; Wang Q; Buisine MP; Soret J; Tazi J; Frébourg T; Tosi M
    Hum Mutat; 2008 Dec; 29(12):1412-24. PubMed ID: 18561205
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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. PubMed ID: 23983145
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 5.