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Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.
Arndt AK, Schafer S, Drenckhahn JD, Sabeh MK, Plovie ER, Caliebe A, Klopocki E, Musso G, Werdich AA, Kalwa H, Heinig M, Padera RF, Wassilew K, Bluhm J, Harnack C, Martitz J, Barton PJ, Greutmann M, Berger F, Hubner N, Siebert R, Kramer HH, Cook SA, MacRae CA, Klaassen S. Arndt AK, et al. Among authors: plovie er. Am J Hum Genet. 2013 Jul 11;93(1):67-77. doi: 10.1016/j.ajhg.2013.05.015. Epub 2013 Jun 13. Am J Hum Genet. 2013. PMID: 23768516 Free PMC article.
Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy.
Heuser A, Plovie ER, Ellinor PT, Grossmann KS, Shin JT, Wichter T, Basson CT, Lerman BB, Sasse-Klaassen S, Thierfelder L, MacRae CA, Gerull B. Heuser A, et al. Among authors: plovie er. Am J Hum Genet. 2006 Dec;79(6):1081-8. doi: 10.1086/509044. Epub 2006 Oct 3. Am J Hum Genet. 2006. PMID: 17186466 Free PMC article.
Stanniocalcin1 is a key mediator of amyloidogenic light chain induced cardiotoxicity.
Guan J, Mishra S, Shi J, Plovie E, Qiu Y, Cao X, Gianni D, Jiang B, Del Monte F, Connors LH, Seldin DC, Lavatelli F, Rognoni P, Palladini G, Merlini G, Falk RH, Semigran MJ, Dec GW Jr, Macrae CA, Liao R. Guan J, et al. Basic Res Cardiol. 2013 Sep;108(5):378. doi: 10.1007/s00395-013-0378-5. Epub 2013 Aug 28. Basic Res Cardiol. 2013. PMID: 23982491 Free PMC article.
11 results