Gene discovery report:

Duboscq-Bidot L, Charron P, Ruppert V, Fauchier L, Richter A, Tavazzi L, Arbustini E, Wichter T, Maisch B, Komajda M, Isnard R, Villard E; EUROGENE Heart Failure Network. Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy. Eur Heart J. 2009 Sep;30(17):2128-36. Epub 2009 Jun 12.

Gene discovery report:

Olson TM, Illenberger S, Kishimoto NY, Huttelmaier S, Keating MT, Jockusch BM.Metavinculin mutations alter actin interaction in dilated cardiomyopathy.Circulation. 2002;105:431-7.

Other VCL reports:

Karkkainen S, Miettinen R, Tuomainen P, Karkkainen P, Helio T, Reissell E, Kaartinen M, Toivonen L, Nieminen MS, Kuusisto J, Laakso M, Peuhkurinen K. A novel mutation, Arg71Thr, in the delta-sarcoglycan gene is associated with dilated cardiomyopathy. J Mol Med. 2003 Dec;81(12):795-800.

LBD3/Cypher/ZASP

Gene discovery report:

Vatta M, Mohapatra B, Jimenez S, Sanchez X, Faulkner G, Perles Z, Sinagra G, Lin JH, Vu TM, Zhou Q, Bowles KR, Di Lenarda A, Schimmenti L, Fox M, Chrisco MA, Murphy RT, McKenna W, Elliott P, Bowles NE, Chen J, Valle G, Towbin JA. Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J Am Coll Cardiol. 2003;42:2014-27.

Other reports:

Arimura T, Hayashi T, Terada H, Lee SY, Zhou Q, Takahashi M, Ueda K, Nouchi T, Hohda S, Shibutani M, Hirose M, Chen J, Park JE, Yasunami M, Hayashi H, Kimura A. A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C. J Biol Chem. 2004 Feb 20;279(8):6746-52.

Other references:

Zhou, Q, Ruiz-Lozano P, Martone ME, Chen J. Cypher, a striated muscle-restricted PDZ and LIM domain-containing protein, binds to alpha-actinin-2 and protein kinase C. J Biol Chem. 1999;274:19807-13.

Huang, C, Zhou Q, Liang P, Hollander MS, Sheikh F, Li X, Greaser M, Shelton GD, Evans S, Chen J, Characterization and in vivo functional analysis of splice variants of cypher. J Biol Chem. 2003;278:7360-5.

Gene discovery report:

Brauch KM, Karst ML, Herron KJ, de Andrade M, Pellikka PA, Rodeheffer RJ, Michels VV, Olson TM. Mutations in ribonucleic Acid binding protein gene cause familial dilated cardiomyopathy. J Am Coll Cardiol.2009 Sep 1;54(10):930-41.

Gene discovery report:

Daehmlow S, Erdmann J, Knueppel T, Gille C, Froemmel C, Hummel M, Hetzer R, Regitz-Zagrosek V. Novel mutations in sarcomeric protein genes in dilated cardiomyopathy.Biochem Biophys Res Commun. 2002;298:116-20.

Gene discovery report:

Knoll R, Hoshijima M, Hoffman HM, Person V, Lorenzen-Schmidt I, Bang ML, Hayashi T, Shiga N, Yasukawa H, Schaper W, McKenna W, Yokoyama M, Schork NJ, Omens JH, McCulloch AD, Kimura A, Gregorio CC, Poller W, Schaper J, Schultheiss HP, Chien KR. The Cardiac Mechanical Stretch Sensor Machinery Involves a Z Disc Complex that Is Defective in a Subset of Human Dilated Cardiomyopathy. Cell. 2002;111:943-55.

Gene discovery report:

Knoll, R., et al. Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells. Circulation. 2007. 116(5): p. 515-25.

Gene discovery report:

Inagaki, N., et al. Alpha B-crystallin mutation in dilated cardiomyopathy. Biochem Biophys Res Commun. 2006. 342(2): p. 379-86.

Gene discovery report:

Bienengraeber M, Olson TM, Selivanov VA, Kathmann EC, O’Cochlain F, Gao F, Karger AB, Ballew JD, Hodgson DM, Zingman LV, Pang YP, Alekseev AE, Terzic A. ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. Nat Genet. 2004 Apr;36(4):382-7.

Gene discovery report:
Taylor, M.R., et al. Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy. Hum Mutat. 2005. 26(6): p. 566-74.