200 related articles for article (PubMed ID: 30235249)
81. Approaching the facts between genetic mutation and clinical practice of hypertrophic cardiomyopathy: A case report with RAF1 770C>T mutant.
Wang X; Zhou K; Hua Y; Li Y
Medicine (Baltimore); 2016 Sep; 95(37):e4815. PubMed ID: 27631234
[TBL] [Abstract][Full Text] [Related]
82. A novel compound heterozygous variant in
Li T; Jin Y; Liu R; Hua Y; Zhou K; Luo S; Li Y; Zhang D
Front Cardiovasc Med; 2023; 10():1212417. PubMed ID: 37396576
[TBL] [Abstract][Full Text] [Related]
83. The Involvement of
Dai J; Li K; Huang M; Sun Y; Liu H; Li Z; Chen P; Wang H; Wu D; Chen Y; Xiao L; Wei H; Li R; Peng L; Yu T; Wang Y; Wang DW
Front Med (Lausanne); 2022; 9():915649. PubMed ID: 35783621
[TBL] [Abstract][Full Text] [Related]
84. Emerging role of junctophilin-2 as a regulator of calcium handling in the heart.
Garbino A; Wehrens XH
Acta Pharmacol Sin; 2010 Sep; 31(9):1019-21. PubMed ID: 20694023
[TBL] [Abstract][Full Text] [Related]
85. Emerging roles of junctophilin-2 in the heart and implications for cardiac diseases.
Beavers DL; Landstrom AP; Chiang DY; Wehrens XH
Cardiovasc Res; 2014 Jul; 103(2):198-205. PubMed ID: 24935431
[TBL] [Abstract][Full Text] [Related]
86. Mutation in JPH2 cause dilated cardiomyopathy.
Sabater-Molina M; Navarro M; García-Molina Sáez E; Garrido I; Pascual-Figal D; González Carrillo J; Gimeno Blanes JR
Clin Genet; 2016 Nov; 90(5):468-469. PubMed ID: 27471098
[No Abstract] [Full Text] [Related]
87. Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy.
Ader F; Jedraszak G; Janin A; Billon C; Buisson NR; Bloch A; Bensalah M; De Sandre-Giovannoli A; Goudal A; Marsili L; Cazeneuve C; Charron P; Millat G; Richard P;
Clin Genet; 2024 Jun; 105(6):676-682. PubMed ID: 38356193
[TBL] [Abstract][Full Text] [Related]
88. A Case Report of a Rare Heterozygous Variant in the
Oka H; Nakau K; Imanishi R; Furukawa T; Tanabe Y; Hirono K; Hata Y; Nishida N; Azuma H
CJC Open; 2021 Sep; 3(9):1195-1198. PubMed ID: 34712946
[TBL] [Abstract][Full Text] [Related]
89. Intrafamilial Phenotypical Variability Linked to PRKAG2 Mutation-Family Case Report and Review of the Literature.
Marcu AS; Vătăşescu R; Onciul S; Rădoi V; Jurcuţ R
Life (Basel); 2022 Dec; 12(12):. PubMed ID: 36556501
[TBL] [Abstract][Full Text] [Related]
90. Genetic determinants of heart failure: facts and numbers.
Czepluch FS; Wollnik B; Hasenfuß G
ESC Heart Fail; 2018 Jun; 5(3):211-217. PubMed ID: 29457878
[TBL] [Abstract][Full Text] [Related]
91. Targeting Calpain-2-mediated Junctophilin-2 cleavage delays heart failure progression following myocardial infarction.
Lahiri SK; Lu J; Aguilar-Sanchez Y; Li H; Moreira LM; Hulsurkar MM; Mendoza A; Turkieltaub Paredes MR; Navarro-Garcia JA; Munivez E; Horist B; Moore OM; Weninger G; Brandenburg S; Lenz C; Lehnart SE; Sayeed R; Krasopoulos G; Srivastava V; Zhang L; Karch JM; Reilly S; Wehrens XHT
J Mol Cell Cardiol; 2024 Jul; ():. PubMed ID: 38960317
[TBL] [Abstract][Full Text] [Related]
92. Sequence determinants of human junctophilin-2 protein nuclear localization and phase separation.
Guo A; Fang W; Gibson S
Biochem Biophys Res Commun; 2021 Jul; 563():79-84. PubMed ID: 34062390
[TBL] [Abstract][Full Text] [Related]
93. Intermediate-effect size p.Arg637Gln in
Piqueras-Flores J; Villacorta-Argüelles E; Galvin J; Climent-Payá V; Escobar-López LE; Amor-Salamanca A; Garcia-Hernandez S; Esmonde S; Martínez-Del Río J; Soto-Pérez M; Garcia-Pavia P; Ochoa JP
J Med Genet; 2024 Apr; 61(5):423-427. PubMed ID: 38160043
[TBL] [Abstract][Full Text] [Related]
94. Junctophilin-2 Regulates Mitochondrial Metabolism.
Prisco SZ; Hartweck LM; Kazmirczak F; Mendelson JB; Deng SL; Lahiri SK; Wehrens XHT; Prins KW
bioRxiv; 2023 Feb; ():. PubMed ID: 36798293
[TBL] [Abstract][Full Text] [Related]
95. Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy.
Verhagen JMA; Veldman JH; van der Zwaag PA; von der Thüsen JH; Brosens E; Christiaans I; Dooijes D; Helderman-van den Enden ATJM; Lekanne Deprez RH; Michels M; van Mil AM; Oldenburg RA; van der Smagt JJ; van den Wijngaard A; Wessels MW; Hofstra RMW; van Slegtenhorst MA; Jongbloed JDH; van de Laar IMBH
Eur J Hum Genet; 2018 Nov; 26(11):1603-1610. PubMed ID: 29988065
[TBL] [Abstract][Full Text] [Related]
96. Adiponectin receptor 1 variants contribute to hypertrophic cardiomyopathy that can be reversed by rapamycin.
Dhandapany PS; Kang S; Kashyap DK; Rajagopal R; Sundaresan NR; Singh R; Thangaraj K; Jayaprakash S; Manjunath CN; Shenthar J; Lebeche D
Sci Adv; 2021 Jan; 7(2):. PubMed ID: 33523960
[TBL] [Abstract][Full Text] [Related]
97. The role of junctophilin proteins in cellular function.
Lehnart SE; Wehrens XHT
Physiol Rev; 2022 Jul; 102(3):1211-1261. PubMed ID: 35001666
[TBL] [Abstract][Full Text] [Related]
98. Remodeling of t-system and proteins underlying excitation-contraction coupling in aging versus failing human heart.
Lyu Y; Verma VK; Lee Y; Taleb I; Badolia R; Shankar TS; Kyriakopoulos CP; Selzman CH; Caine W; Alharethi R; Navankasattusas S; Seidel T; Drakos SG; Sachse FB
NPJ Aging Mech Dis; 2021 May; 7(1):16. PubMed ID: 34050186
[TBL] [Abstract][Full Text] [Related]
99. Editorial commentary: Genomic and precision medicine provides deeper insights into the genetic basis of diverse JPH2-mediated phenotypes.
Patel V; Chahal CAA
Trends Cardiovasc Med; 2023 Jan; 33(1):11-12. PubMed ID: 34965474
[No Abstract] [Full Text] [Related]
100. Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy.
Jones EG; Mazaheri N; Maroofian R; Zamani M; Seifi T; Sedaghat A; Shariati G; Jamshidi Y; Allen HD; Wehrens XHT; Galehdari H; Landstrom AP
Sci Rep; 2019 Jun; 9(1):9038. PubMed ID: 31227780
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]