BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

212 related articles for article (PubMed ID: 30345660)

  • 1. Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy.
    Gardner RJM; Crozier IG; Binfield AL; Love DR; Lehnert K; Gibson K; Lintott CJ; Snell RG; Jacobsen JC; Jones PP; Waddell-Smith KE; Kennedy MA; Skinner JR
    Mol Genet Genomic Med; 2019 Jan; 7(1):e00476. PubMed ID: 30345660
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Digenic Heterozigosity in SCN5A and CACNA1C Explains the Variable Expressivity of the Long QT Phenotype in a Spanish Family.
    Nieto-Marín P; Jiménez-Jáimez J; Tinaquero D; Alfayate S; Utrilla RG; Rodríguez Vázquez Del Rey MDM; Perin F; Sarquella-Brugada G; Monserrat L; Brugada J; Tercedor L; Tamargo J; Delpón E; Caballero R
    Rev Esp Cardiol (Engl Ed); 2019 Apr; 72(4):324-332. PubMed ID: 29691127
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel long QT syndrome-associated missense mutation, L762F, in CACNA1C-encoded L-type calcium channel imparts a slower inactivation tau and increased sustained and window current.
    Landstrom AP; Boczek NJ; Ye D; Miyake CY; De la Uz CM; Allen HD; Ackerman MJ; Kim JJ
    Int J Cardiol; 2016 Oct; 220():290-8. PubMed ID: 27390944
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A pore-localizing CACNA1C-E1115K missense mutation, identified in a patient with idiopathic QT prolongation, bradycardia, and autism spectrum disorder, converts the L-type calcium channel into a hybrid nonselective monovalent cation channel.
    Ye D; Tester DJ; Zhou W; Papagiannis J; Ackerman MJ
    Heart Rhythm; 2019 Feb; 16(2):270-278. PubMed ID: 30172029
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Expanding the phenotype of CACNA1C mutation disorders.
    Gakenheimer-Smith L; Meyers L; Lundahl D; Menon SC; Bunch TJ; Sawyer BL; Tristani-Firouzi M; Etheridge SP
    Mol Genet Genomic Med; 2021 Jun; 9(6):e1673. PubMed ID: 33797204
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes.
    Fukuyama M; Wang Q; Kato K; Ohno S; Ding WG; Toyoda F; Itoh H; Kimura H; Makiyama T; Ito M; Matsuura H; Horie M
    Europace; 2014 Dec; 16(12):1828-37. PubMed ID: 24728418
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A mutation in the CACNA1C gene leads to early repolarization syndrome with incomplete penetrance: A Chinese family study.
    Liu X; Shen Y; Xie J; Bao H; Cao Q; Wan R; Xu X; Zhou H; Huang L; Xu Z; Zhu W; Hu J; Cheng X; Hong K
    PLoS One; 2017; 12(5):e0177532. PubMed ID: 28493952
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6).
    Templin C; Ghadri JR; Rougier JS; Baumer A; Kaplan V; Albesa M; Sticht H; Rauch A; Puleo C; Hu D; Barajas-Martinez H; Antzelevitch C; Lüscher TF; Abriel H; Duru F
    Eur Heart J; 2011 May; 32(9):1077-88. PubMed ID: 21383000
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome.
    Boczek NJ; Best JM; Tester DJ; Giudicessi JR; Middha S; Evans JM; Kamp TJ; Ackerman MJ
    Circ Cardiovasc Genet; 2013 Jun; 6(3):279-89. PubMed ID: 23677916
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin.
    Protonotarios N; Tsatsopoulou A; Anastasakis A; Sevdalis E; McKoy G; Stratos K; Gatzoulis K; Tentolouris K; Spiliopoulou C; Panagiotakos D; McKenna W; Toutouzas P
    J Am Coll Cardiol; 2001 Nov; 38(5):1477-84. PubMed ID: 11691526
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular and Functional Characterization of Rare CACNA1C Variants in Sudden Unexplained Death in the Young.
    Sutphin BS; Boczek NJ; Barajas-Martínez H; Hu D; Ye D; Tester DJ; Antzelevitch C; Ackerman MJ
    Congenit Heart Dis; 2016 Dec; 11(6):683-692. PubMed ID: 27218670
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Type 8 long QT syndrome: pathogenic variants in CACNA1C-encoded Cav1.2 cluster in STAC protein binding site.
    Mellor GJ; Panwar P; Lee AK; Steinberg C; Hathaway JA; Bartels K; Christian S; Balaji S; Roberts JD; Simpson CS; Boczek NJ; Tester DJ; Radbill AE; Mok NS; Hamilton RM; Kaufman ES; Eugenio PL; Weiss R; January C; McDaniel GM; Leather RA; Erickson C; Falik S; Behr ER; Wilde AAM; Sanatani S; Ackerman MJ; Van Petegem F; Krahn AD; Laksman Z
    Europace; 2019 Nov; 21(11):1725-1732. PubMed ID: 31408100
    [TBL] [Abstract][Full Text] [Related]  

  • 13. KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death.
    Chen S; Zhang L; Bryant RM; Vincent GM; Flippin M; Lee JC; Brown E; Zimmerman F; Rozich R; Szafranski P; Oberti C; Sterba R; Marangi D; Tchou PJ; Chung MK; Wang Q
    Clin Genet; 2003 Apr; 63(4):273-82. PubMed ID: 12702160
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Continuous Bayesian variant interpretation accounts for incomplete penetrance among Mendelian cardiac channelopathies.
    O'Neill MJ; Sala L; Denjoy I; Wada Y; Kozek K; Crotti L; Dagradi F; Kotta MC; Spazzolini C; Leenhardt A; Salem JE; Kashiwa A; Ohno S; Tao R; Roden DM; Horie M; Extramiana F; Schwartz PJ; Kroncke BM
    Genet Med; 2023 Mar; 25(3):100355. PubMed ID: 36496179
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome.
    Hu D; Li Y; Zhang J; Pfeiffer R; Gollob MH; Healey J; Harrell DT; Makita N; Abe H; Sun Y; Guo J; Zhang L; Yan G; Mah D; Walsh EP; Leopold HB; Giustetto C; Gaita F; Zienciuk-Krajka A; Mazzanti A; Priori SG; Antzelevitch C; Barajas-Martinez H
    JACC Clin Electrophysiol; 2017 Jul; 3(7):727-743. PubMed ID: 29759541
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genetic analysis of sick sinus syndrome in a family harboring compound CACNA1C and TTN mutations.
    Zhu YB; Luo JW; Jiang F; Liu G
    Mol Med Rep; 2018 May; 17(5):7073-7080. PubMed ID: 29568937
    [TBL] [Abstract][Full Text] [Related]  

  • 17. An African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillation.
    Blancard M; Debbiche A; Kato K; Cardin C; Sabrina G; Gandjbakhch E; Probst V; Haissaguerre M; Extramiana F; Hocini M; Olivier G; Leenhardt A; Guicheney P; Rougier JS
    Sci Rep; 2018 Oct; 8(1):14619. PubMed ID: 30279520
    [TBL] [Abstract][Full Text] [Related]  

  • 18. New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel
    Endres D; Decher N; Röhr I; Vowinkel K; Domschke K; Komlosi K; Tzschach A; Gläser B; Schiele MA; Runge K; Süß P; Schuchardt F; Nickel K; Stallmeyer B; Rinné S; Schulze-Bahr E; Tebartz van Elst L
    Int J Mol Sci; 2020 Nov; 21(22):. PubMed ID: 33203140
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical and functional characterization of a novel mutation in lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathy.
    Forleo C; Carmosino M; Resta N; Rampazzo A; Valecce R; Sorrentino S; Iacoviello M; Pisani F; Procino G; Gerbino A; Scardapane A; Simone C; Calore M; Torretta S; Svelto M; Favale S
    PLoS One; 2015; 10(4):e0121723. PubMed ID: 25837155
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Characterization of the CACNA1C-R518C Missense Mutation in the Pathobiology of Long-QT Syndrome Using Human Induced Pluripotent Stem Cell Cardiomyocytes Shows Action Potential Prolongation and L-Type Calcium Channel Perturbation.
    Estes SI; Ye D; Zhou W; Dotzler SM; Tester DJ; Bos JM; Kim CSJ; Ackerman MJ
    Circ Genom Precis Med; 2019 Aug; 12(8):e002534. PubMed ID: 31430211
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.