PMC Links for OMIM (Select 605906) - PMC

Select item 49300981.

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

Aviva Levitas, Yuval Konstantino, Emad Muhammad, Zaid Afawi, Jean Marc Weinstein, Guy Amit, Yoram Etzion, Ruti Parvari

Eur J Hum Genet. 2016 May; 24(5): 666–671. Published online 2015 Sep 30. doi: 10.1038/ejhg.2015.195

PMCID:: PMC4930098

Select item 40363662.

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

Xiaoyan Lin, Janelle Ruiz, Ilda Bajraktari, Rachel Ohman, Soojay Banerjee, Katherine Gribble, Joshua D. Kaufman, Paul T. Wingfield, Robert C. Griggs, Kenneth H. Fischbeck, Ami Mankodi

J Biol Chem. 2014 May 9; 289(19): 13615–13626. Published online 2014 Mar 25. doi: 10.1074/jbc.M114.550418

PMCID:: PMC4036366

Article PDF–5.2M

Select item 32065703.

Zasp: A New Z-Band Alternatively Spliced PDZ-Motif Protein

Georgine Faulkner, Alberto Pallavicini, Elide Formentin, Anna Comelli, Chiara Ievolella, Silvia Trevisan, Gladis Bortoletto, Paolo Scannapieco, Michela Salamon, Vincent Mouly, Giorgio Valle, Gerolamo Lanfranchi

J Cell Biol. 1999 Jul 26; 146(2): 465–476. doi: 10.1083/jcb.146.2.465

PMCID:: PMC3206570

Article PDF–629K

Select item 30716714.

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

Hongqiang Cheng, Ming Zheng, Angela K. Peter, Kensuke Kimura, Xiaodong Li, Kunfu Ouyang, Tao Shen, Li Cui, Derk Frank, Nancy D. Dalton, Yusu Gu, Norbert Frey, Kirk L. Peterson, Sylvia M. Evans, Kirk U. Knowlton, Farah Sheikh, Ju Chen

Hum Mol Genet. 2011 May 1; 20(9): 1751–1762. Published online 2011 Feb 8. doi: 10.1093/hmg/ddr050

PMCID:: PMC3071671

Article PDF–605K

Select item 27222175.

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

Ming Zheng, Hongqiang Cheng, Xiaodong Li, Jianlin Zhang, Li Cui, Kunfu Ouyang, Liang Han, Ting Zhao, Yusu Gu, Nancy D. Dalton, Marie-Louise Bang, Kirk L. Peterson, Ju Chen

Hum Mol Genet. 2009 Feb 15; 18(4): 701–713. Published online 2008 Nov 21. doi: 10.1093/hmg/ddn400

PMCID:: PMC2722217

Article PDF–569K

Select item 21988716.

Ablation of Cypher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathy

Qiang Zhou, Po-Hsien Chu, Chenqun Huang, Ching-Feng Cheng, Maryann E. Martone, Gudrun Knoll, G. Diane Shelton, Sylvia Evans, Ju Chen

J Cell Biol. 2001 Nov 12; 155(4): 605–612. doi: 10.1083/jcb.200107092

PMCID:: PMC2198871

Article PDF–533K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from OMIM

Items: 6

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity