PubMed (cited) for id: 605906

Year	Number of Results
1974	1
1998	1
1999	2
2001	1
2002	2
2003	3
2004	1
2005	1
2006	2
2007	1
2008	1
2009	1
2011	1
2014	1
2015	1
2016	1
2024	0

1

D117N in Cypher/ZASP may not be a causative mutation for dilated cardiomyopathy and ventricular arrhythmias.

Levitas A, Konstantino Y, Muhammad E, Afawi Z, Marc Weinstein J, Amit G, Etzion Y, Parvari R. Levitas A, et al. Eur J Hum Genet. 2016 May;24(5):666-71. doi: 10.1038/ejhg.2015.195. Epub 2015 Sep 30. Eur J Hum Genet. 2016. PMID: 26419279 Free PMC article.

2

Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy.

Lin X, Ruiz J, Bajraktari I, Ohman R, Banerjee S, Gribble K, Kaufman JD, Wingfield PT, Griggs RC, Fischbeck KH, Mankodi A. Lin X, et al. J Biol Chem. 2014 May 9;289(19):13615-26. doi: 10.1074/jbc.M114.550418. Epub 2014 Mar 25. J Biol Chem. 2014. PMID: 24668811 Free PMC article.

3

Selective deletion of long but not short Cypher isoforms leads to late-onset dilated cardiomyopathy.

Cheng H, Zheng M, Peter AK, Kimura K, Li X, Ouyang K, Shen T, Cui L, Frank D, Dalton ND, Gu Y, Frey N, Peterson KL, Evans SM, Knowlton KU, Sheikh F, Chen J. Cheng H, et al. Hum Mol Genet. 2011 May 1;20(9):1751-62. doi: 10.1093/hmg/ddr050. Epub 2011 Feb 8. Hum Mol Genet. 2011. PMID: 21303826 Free PMC article.

4

Cardiac-specific ablation of Cypher leads to a severe form of dilated cardiomyopathy with premature death.

Zheng M, Cheng H, Li X, Zhang J, Cui L, Ouyang K, Han L, Zhao T, Gu Y, Dalton ND, Bang ML, Peterson KL, Chen J. Zheng M, et al. Hum Mol Genet. 2009 Feb 15;18(4):701-13. doi: 10.1093/hmg/ddn400. Epub 2008 Nov 21. Hum Mol Genet. 2009. PMID: 19028670 Free PMC article.

5

Zaspopathy in a large classic late-onset distal myopathy family.

Griggs R, Vihola A, Hackman P, Talvinen K, Haravuori H, Faulkner G, Eymard B, Richard I, Selcen D, Engel A, Carpen O, Udd B. Griggs R, et al. Brain. 2007 Jun;130(Pt 6):1477-84. doi: 10.1093/brain/awm006. Epub 2007 Mar 2. Brain. 2007. PMID: 17337483

6

Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy.

Theis JL, Bos JM, Bartleson VB, Will ML, Binder J, Vatta M, Towbin JA, Gersh BJ, Ommen SR, Ackerman MJ. Theis JL, et al. Biochem Biophys Res Commun. 2006 Dec 29;351(4):896-902. doi: 10.1016/j.bbrc.2006.10.119. Epub 2006 Nov 9. Biochem Biophys Res Commun. 2006. PMID: 17097056

7

Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity.

Xing Y, Ichida F, Matsuoka T, Isobe T, Ikemoto Y, Higaki T, Tsuji T, Haneda N, Kuwabara A, Chen R, Futatani T, Tsubata S, Watanabe S, Watanabe K, Hirono K, Uese K, Miyawaki T, Bowles KR, Bowles NE, Towbin JA. Xing Y, et al. Mol Genet Metab. 2006 May;88(1):71-7. doi: 10.1016/j.ymgme.2005.11.009. Epub 2006 Jan 19. Mol Genet Metab. 2006. PMID: 16427346

8

Mutations in ZASP define a novel form of muscular dystrophy in humans.

Selcen D, Engel AG. Selcen D, et al. Ann Neurol. 2005 Feb;57(2):269-76. doi: 10.1002/ana.20376. Ann Neurol. 2005. PMID: 15668942

9

Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction.

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. Vatta M, et al. J Am Coll Cardiol. 2003 Dec 3;42(11):2014-27. doi: 10.1016/j.jacc.2003.10.021. J Am Coll Cardiol. 2003. PMID: 14662268 Free article.

10

A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C.

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. Arimura T, et al. J Biol Chem. 2004 Feb 20;279(8):6746-52. doi: 10.1074/jbc.M311849200. Epub 2003 Dec 3. J Biol Chem. 2004. PMID: 14660611 Free article.

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