199 related articles for article (PubMed ID: 31227780)
21. A novel likely pathogenic variant in the FBXO32 gene associated with dilated cardiomyopathy according to whole‑exome sequencing.
Ghasemi S; Mahdavi M; Maleki M; Salahshourifar I; Kalayinia S
BMC Med Genomics; 2022 Nov; 15(1):234. PubMed ID: 36344977
[TBL] [Abstract][Full Text] [Related]
22. Mutation E169K in junctophilin-2 causes atrial fibrillation due to impaired RyR2 stabilization.
Beavers DL; Wang W; Ather S; Voigt N; Garbino A; Dixit SS; Landstrom AP; Li N; Wang Q; Olivotto I; Dobrev D; Ackerman MJ; Wehrens XHT
J Am Coll Cardiol; 2013 Nov; 62(21):2010-9. PubMed ID: 23973696
[TBL] [Abstract][Full Text] [Related]
23. Whole-Exome Sequencing Identifies Homozygote Nonsense Variants in
Sono R; Larrinaga TM; Huang A; Makhlouf F; Kang X; Su J; Lau R; Arboleda VA; Biniwale R; Fishbein GA; Khanlou N; Si MS; Satou GM; Halnon N; Ucla Congenital Heart Defects-BioCore Faculty ; Van Arsdell GS; Gregorio CC; Nelson S; Touma M
Cells; 2023 May; 12(11):. PubMed ID: 37296576
[TBL] [Abstract][Full Text] [Related]
24. Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.
Norton N; Li D; Rampersaud E; Morales A; Martin ER; Zuchner S; Guo S; Gonzalez M; Hedges DJ; Robertson PD; Krumm N; Nickerson DA; Hershberger RE;
Circ Cardiovasc Genet; 2013 Apr; 6(2):144-53. PubMed ID: 23418287
[TBL] [Abstract][Full Text] [Related]
25. Dilated cardiomyopathy caused by a pathogenic nucleotide variant in RBM20 in an Iranian family.
Malakootian M; Bagheri Moghaddam M; Kalayinia S; Farrashi M; Maleki M; Sadeghipour P; Amin A
BMC Med Genomics; 2022 May; 15(1):106. PubMed ID: 35527250
[TBL] [Abstract][Full Text] [Related]
26. Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy.
Matsushita Y; Furukawa T; Kasanuki H; Nishibatake M; Kurihara Y; Ikeda A; Kamatani N; Takeshima H; Matsuoka R
J Hum Genet; 2007; 52(6):543-548. PubMed ID: 17476457
[TBL] [Abstract][Full Text] [Related]
27. Junctophilin-2 expression silencing causes cardiocyte hypertrophy and abnormal intracellular calcium-handling.
Landstrom AP; Kellen CA; Dixit SS; van Oort RJ; Garbino A; Weisleder N; Ma J; Wehrens XH; Ackerman MJ
Circ Heart Fail; 2011 Mar; 4(2):214-23. PubMed ID: 21216834
[TBL] [Abstract][Full Text] [Related]
28. Pathogenic Variants Associated With Dilated Cardiomyopathy Predict Outcome in Pediatric Myocarditis.
Seidel F; Holtgrewe M; Al-Wakeel-Marquard N; Opgen-Rhein B; Dartsch J; Herbst C; Beule D; Pickardt T; Klingel K; Messroghli D; Berger F; Schubert S; Kühnisch J; Klaassen S
Circ Genom Precis Med; 2021 Aug; 14(4):e003250. PubMed ID: 34213952
[TBL] [Abstract][Full Text] [Related]
29. Disrupted junctional membrane complexes and hyperactive ryanodine receptors after acute junctophilin knockdown in mice.
van Oort RJ; Garbino A; Wang W; Dixit SS; Landstrom AP; Gaur N; De Almeida AC; Skapura DG; Rudy Y; Burns AR; Ackerman MJ; Wehrens XH
Circulation; 2011 Mar; 123(9):979-88. PubMed ID: 21339484
[TBL] [Abstract][Full Text] [Related]
30. Junctophilin-2 gene therapy rescues heart failure by normalizing RyR2-mediated Ca
Reynolds JO; Quick AP; Wang Q; Beavers DL; Philippen LE; Showell J; Barreto-Torres G; Thuerauf DJ; Doroudgar S; Glembotski CC; Wehrens XH
Int J Cardiol; 2016 Dec; 225():371-380. PubMed ID: 27760414
[TBL] [Abstract][Full Text] [Related]
31. First identification of homozygous truncating CSRP3 variants in two unrelated cases with hypertrophic cardiomyopathy.
Janin A; Bessière F; Chauveau S; Chevalier P; Millat G
Gene; 2018 Nov; 676():110-116. PubMed ID: 30012424
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. Phenotypic spectrum of ALPK3-related cardiomyopathy.
Al Senaidi K; Joshi N; Al-Nabhani M; Al-Kasbi G; Al Farqani A; Al-Thihli K; Al-Maawali A
Am J Med Genet A; 2019 Jul; 179(7):1235-1240. PubMed ID: 31074094
[TBL] [Abstract][Full Text] [Related]
34. A Novel Recessive Mutation in SPEG Causes Early Onset Dilated Cardiomyopathy.
Levitas A; Muhammad E; Zhang Y; Perea Gil I; Serrano R; Diaz N; Arafat M; Gavidia AA; Kapiloff MS; Mercola M; Etzion Y; Parvari R; Karakikes I
PLoS Genet; 2020 Sep; 16(9):e1009000. PubMed ID: 32925938
[TBL] [Abstract][Full Text] [Related]
35. Molecular genetic and functional characterization implicate muscle-restricted coiled-coil gene (MURC) as a causal gene for familial dilated cardiomyopathy.
Rodriguez G; Ueyama T; Ogata T; Czernuszewicz G; Tan Y; Dorn GW; Bogaev R; Amano K; Oh H; Matsubara H; Willerson JT; Marian AJ
Circ Cardiovasc Genet; 2011 Aug; 4(4):349-58. PubMed ID: 21642240
[TBL] [Abstract][Full Text] [Related]
36. Whole-exome sequencing reveals genetic risks of early-onset sporadic dilated cardiomyopathy in the Chinese Han population.
Xiao L; Wu D; Sun Y; Hu D; Dai J; Chen Y; Wang D
Sci China Life Sci; 2022 Apr; 65(4):770-780. PubMed ID: 34302607
[TBL] [Abstract][Full Text] [Related]
37. Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population.
Bourfiss M; van Vugt M; Alasiri AI; Ruijsink B; van Setten J; Schmidt AF; Dooijes D; Puyol-Antón E; Velthuis BK; van Tintelen JP; Te Riele ASJM; Baas AF; Asselbergs FW
Circ Genom Precis Med; 2022 Dec; 15(6):e003704. PubMed ID: 36264615
[TBL] [Abstract][Full Text] [Related]
38. Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.
Ganapathi M; Argyriou L; Martínez-Azorín F; Morlot S; Yigit G; Lee TM; Auber B; von Gise A; Petrey DS; Thiele H; Cyganek L; Sabater-Molina M; Ahimaz P; Cabezas-Herrera J; Sorlí-García M; Zibat A; Siegelin MD; Burfeind P; Buchovecky CM; Hasenfuss G; Honig B; Li Y; Iglesias AD; Wollnik B
Hum Genet; 2020 Nov; 139(11):1443-1454. PubMed ID: 32514796
[TBL] [Abstract][Full Text] [Related]
39. A novel splicing variant in FLNC gene responsible for a highly penetrant familial dilated cardiomyopathy in an extended Iranian family.
Nozari A; Aghaei-Moghadam E; Zeinaloo A; Mollazadeh R; Majnoon MT; Alavi A; Ghasemi Firouzabadi S; Mohammadzadeh A; Banihashemi S; Nikzaban M; Najmabadi H; Behjati F
Gene; 2018 Jun; 659():160-167. PubMed ID: 29551499
[TBL] [Abstract][Full Text] [Related]
40. Homozygous TNNI3 frameshift variant in a consanguineous family with lethal infantile dilated cardiomyopathy.
Kraoua L; Louati A; Ahmed SB; Abida N; Khemiri M; Menif K; Mrad R; Zaffran S; Jaouadi H
Mol Genet Genomic Med; 2024 Jun; 12(6):e2486. PubMed ID: 38924380
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]