BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

309 related articles for article (PubMed ID: 28171858)

  • 1. Exome Sequencing Identifies a Novel DES Mutation (R227C) in a Chinese Dilated Cardiomyopathy Family.
    Yu R; Liu L; Chen C; Shen JM
    Cardiology; 2017; 137(2):78-82. PubMed ID: 28171858
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Patient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing.
    Tse HF; Ho JC; Choi SW; Lee YK; Butler AW; Ng KM; Siu CW; Simpson MA; Lai WH; Chan YC; Au KW; Zhang J; Lay KW; Esteban MA; Nicholls JM; Colman A; Sham PC
    Hum Mol Genet; 2013 Apr; 22(7):1395-403. PubMed ID: 23300193
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Whole-Exome Sequencing Identifies Two Novel TTN Mutations in Chinese Families with Dilated Cardiomyopathy.
    Liu JS; Fan LL; Zhang H; Liu X; Huang H; Tao LJ; Xia K; Xiang R
    Cardiology; 2017; 136(1):10-14. PubMed ID: 27544385
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Characterization of the canine desmin (DES) gene and evaluation as a candidate gene for dilated cardiomyopathy in the Dobermann.
    Stabej P; Imholz S; Versteeg SA; Zijlstra C; Stokhof AA; Domanjko-Petric A; Leegwater PA; van Oost BA
    Gene; 2004 Oct; 340(2):241-9. PubMed ID: 15475165
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect.
    Brodehl A; Dieding M; Biere N; Unger A; Klauke B; Walhorn V; Gummert J; Schulz U; Linke WA; Gerull B; Vorgert M; Anselmetti D; Milting H
    J Mol Cell Cardiol; 2016 Feb; 91():207-14. PubMed ID: 26724190
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Prevalence of desmin mutations in dilated cardiomyopathy.
    Taylor MR; Slavov D; Ku L; Di Lenarda A; Sinagra G; Carniel E; Haubold K; Boucek MM; Ferguson D; Graw SL; Zhu X; Cavanaugh J; Sucharov CC; Long CS; Bristow MR; Lavori P; Mestroni L; ;
    Circulation; 2007 Mar; 115(10):1244-51. PubMed ID: 17325244
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Heterozygous desmin gene (
    Huang YS; Xing YL; Li HW
    J Int Med Res; 2021 Apr; 49(4):3000605211006598. PubMed ID: 33823640
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Whole exome sequencing identified 1 base pair novel deletion in BCL2-associated athanogene 3 (BAG3) gene associated with severe dilated cardiomyopathy (DCM) requiring heart transplant in multiple family members.
    Rafiq MA; Chaudhry A; Care M; Spears DA; Morel CF; Hamilton RM
    Am J Med Genet A; 2017 Mar; 173(3):699-705. PubMed ID: 28211974
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel heterozygous variant p.(Trp538Arg) of SYNM is identified by whole-exome sequencing in a Chinese family with dilated cardiomyopathy.
    Zhang SB; Liu YX; Fan LL; Huang H; Li JJ; Jin JY; Xiang R
    Ann Hum Genet; 2019 Mar; 83(2):95-99. PubMed ID: 30276801
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy.
    Long PA; Larsen BT; Evans JM; Olson TM
    J Am Heart Assoc; 2015 Dec; 4(12):. PubMed ID: 26656454
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Whole-Exome Sequencing Identifies a Novel Mutation (p.L320R) of Alpha-Actinin 2 in a Chinese Family with Dilated Cardiomyopathy and Ventricular Tachycardia.
    Fan LL; Huang H; Jin JY; Li JJ; Chen YQ; Xiang R
    Cytogenet Genome Res; 2019; 157(3):148-152. PubMed ID: 30630173
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Whole exome sequencing identifies a novel mutation (c.333 + 2T > C) of TNNI3K in a Chinese family with dilated cardiomyopathy and cardiac conduction disease.
    Fan LL; Huang H; Jin JY; Li JJ; Chen YQ; Zhao SP; Xiang R
    Gene; 2018 Mar; 648():63-67. PubMed ID: 29355681
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia.
    Bermúdez-Jiménez FJ; Carriel V; Brodehl A; Alaminos M; Campos A; Schirmer I; Milting H; Abril BÁ; Álvarez M; López-Fernández S; García-Giustiniani D; Monserrat L; Tercedor L; Jiménez-Jáimez J
    Circulation; 2018 Apr; 137(15):1595-1610. PubMed ID: 29212896
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Targeted next-generation sequencing of candidate genes reveals novel mutations in patients with dilated cardiomyopathy.
    Zhao Y; Feng Y; Zhang YM; Ding XX; Song YZ; Zhang AM; Liu L; Zhang H; Ding JH; Xia XS
    Int J Mol Med; 2015 Dec; 36(6):1479-86. PubMed ID: 26458567
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel mutation, Arg71Thr, in the delta-sarcoglycan gene is associated with dilated cardiomyopathy.
    Kärkkäinen S; Miettinen R; Tuomainen P; Kärkkäinen P; Heliö T; Reissell E; Kaartinen M; Toivonen L; Nieminen MS; Kuusisto J; Laakso M; Peuhkurinen K
    J Mol Med (Berl); 2003 Dec; 81(12):795-800. PubMed ID: 14564412
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Whole exome sequencing identifies a KCNJ12 mutation as a cause of familial dilated cardiomyopathy.
    Yuan HX; Yan K; Hou DY; Zhang ZY; Wang H; Wang X; Zhang J; Xu XR; Liang YH; Zhao WS; Xu L; Zhang L
    Medicine (Baltimore); 2017 Aug; 96(33):e7727. PubMed ID: 28816949
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Functional characterization of novel alpha-helical rod domain desmin (DES) pathogenic variants associated with dilated cardiomyopathy, atrioventricular block and a risk for sudden cardiac death.
    Fischer B; Dittmann S; Brodehl A; Unger A; Stallmeyer B; Paul M; Seebohm G; Kayser A; Peischard S; Linke WA; Milting H; Schulze-Bahr E
    Int J Cardiol; 2021 Apr; 329():167-174. PubMed ID: 33373648
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in
    Robyns T; Willems R; Van Cleemput J; Jhangiani S; Muzny D; Gibbs R; Lupski JR; Breckpot J; Devriendt K; Corveleyn A
    Acta Cardiol; 2020 Dec; 75(8):748-753. PubMed ID: 31583969
    [No Abstract]   [Full Text] [Related]  

  • 19. Whole exome sequencing identifies a novel EMD mutation in a Chinese family with dilated cardiomyopathy.
    Zhang M; Chen J; Si D; Zheng Y; Jiao H; Feng Z; Hu Z; Duan R
    BMC Med Genet; 2014 Jul; 15():77. PubMed ID: 24997722
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Whole-Exome Sequencing Reveals Novel Genetic Variation for Dilated Cardiomyopathy in Pediatric Chinese Patients.
    Dai G; Pu Z; Cheng X; Yin J; Chen J; Xu T; Zhang H; Li Z; Chen X; Chen J; Qin Y; Yang S
    Pediatr Cardiol; 2019 Jun; 40(5):950-957. PubMed ID: 30993396
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.