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2. Mutant Muscle LIM Protein C58G causes cardiomyopathy through protein depletion. Ehsan M; Kelly M; Hooper C; Yavari A; Beglov J; Bellahcene M; Ghataorhe K; Poloni G; Goel A; Kyriakou T; Fleischanderl K; Ehler E; Makeyev E; Lange S; Ashrafian H; Redwood C; Davies B; Watkins H; Gehmlich K J Mol Cell Cardiol; 2018 Aug; 121():287-296. PubMed ID: 30048712 [TBL] [Abstract][Full Text] [Related]
3. Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. Bos JM; Poley RN; Ny M; Tester DJ; Xu X; Vatta M; Towbin JA; Gersh BJ; Ommen SR; Ackerman MJ Mol Genet Metab; 2006 May; 88(1):78-85. PubMed ID: 16352453 [TBL] [Abstract][Full Text] [Related]
4. MLP-deficient human pluripotent stem cell derived cardiomyocytes develop hypertrophic cardiomyopathy and heart failure phenotypes due to abnormal calcium handling. Li X; Lu WJ; Li Y; Wu F; Bai R; Ma S; Dong T; Zhang H; Lee AS; Wang Y; Lan F Cell Death Dis; 2019 Aug; 10(8):610. PubMed ID: 31406109 [TBL] [Abstract][Full Text] [Related]
5. CSRP3, p.Arg122*, is responsible for hypertrophic cardiomyopathy in a Chinese family. Huang H; Chen Y; Jin J; Du R; Tang K; Fan L; Xiang R J Gene Med; 2022 Jan; 24(1):e3390. PubMed ID: 34558151 [TBL] [Abstract][Full Text] [Related]
6. The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals. Salazar-Mendiguchía J; Barriales-Villa R; Lopes LR; Ochoa JP; Rodríguez-Vilela A; Palomino-Doza J; Larrañaga-Moreira JM; Cicerchia M; Cárdenas-Reyes I; García-Giustiniani D; Brögger N; Fernández G; García S; Santiago L; Vélez P; Ortiz-Genga M; Elliott PM; Monserrat L Eur J Med Genet; 2020 Dec; 63(12):104079. PubMed ID: 33035702 [TBL] [Abstract][Full Text] [Related]
7. A novel gene-trap line reveals the dynamic patterns and essential roles of cysteine and glycine-rich protein 3 in zebrafish heart development and regeneration. Liang S; Zhou Y; Chang Y; Li J; Zhang M; Gao P; Li Q; Yu H; Kawakami K; Ma J; Zhang R Cell Mol Life Sci; 2024 Mar; 81(1):158. PubMed ID: 38556571 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. Geier C; Perrot A; Ozcelik C; Binner P; Counsell D; Hoffmann K; Pilz B; Martiniak Y; Gehmlich K; van der Ven PF; Fürst DO; Vornwald A; von Hodenberg E; Nürnberg P; Scheffold T; Dietz R; Osterziel KJ Circulation; 2003 Mar; 107(10):1390-5. PubMed ID: 12642359 [TBL] [Abstract][Full Text] [Related]
10. Muscle LIM Protein Force-Sensing Mediates Sarcomeric Biomechanical Signaling in Human Familial Hypertrophic Cardiomyopathy. Riaz M; Park J; Sewanan LR; Ren Y; Schwan J; Das SK; Pomianowski PT; Huang Y; Ellis MW; Luo J; Liu J; Song L; Chen IP; Qiu C; Yazawa M; Tellides G; Hwa J; Young LH; Yang L; Marboe CC; Jacoby DL; Campbell SG; Qyang Y Circulation; 2022 Apr; 145(16):1238-1253. PubMed ID: 35384713 [TBL] [Abstract][Full Text] [Related]
11. Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives. Andersen PS; Havndrup O; Hougs L; Sørensen KM; Jensen M; Larsen LA; Hedley P; Thomsen AR; Moolman-Smook J; Christiansen M; Bundgaard H Hum Mutat; 2009 Mar; 30(3):363-70. PubMed ID: 19035361 [TBL] [Abstract][Full Text] [Related]
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13. LIM domain-wide comprehensive virtual mutagenesis provides structural rationale for cardiomyopathy mutations in CSRP3. Chauhan PK; Sowdhamini R Sci Rep; 2022 Mar; 12(1):3562. PubMed ID: 35241752 [TBL] [Abstract][Full Text] [Related]
14. Human molecular genetic and functional studies identify TRIM63, encoding Muscle RING Finger Protein 1, as a novel gene for human hypertrophic cardiomyopathy. Chen SN; Czernuszewicz G; Tan Y; Lombardi R; Jin J; Willerson JT; Marian AJ Circ Res; 2012 Sep; 111(7):907-19. PubMed ID: 22821932 [TBL] [Abstract][Full Text] [Related]
15. Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. Hayashi T; Arimura T; Itoh-Satoh M; Ueda K; Hohda S; Inagaki N; Takahashi M; Hori H; Yasunami M; Nishi H; Koga Y; Nakamura H; Matsuzaki M; Choi BY; Bae SW; You CW; Han KH; Park JE; Knöll R; Hoshijima M; Chien KR; Kimura A J Am Coll Cardiol; 2004 Dec; 44(11):2192-201. PubMed ID: 15582318 [TBL] [Abstract][Full Text] [Related]
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