A mutation in the Z-line Cypher/ZASP protein is associated with arrhythmogenic right ventricular cardiomyopathy.

scientific article

A mutation in the Z-line Cypher/ZASP protein is associated with arrhythmogenic right ventricular cardiomyopathy. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1111/CGE.12458
P698PubMed publication ID25041374

P50authorLorenzo MonserratQ42794375
Martin Ortiz-GengaQ57222148
P2093author name stringJ R Gimeno
F Ruiz-Espejo
M J Oliva-Sandoval
D Lopez-Cuenca
I Gomez-Milanes
J J Sanchez-Munoz
J M Lopez-Ayala
P2860cites workZASP: a new Z-band alternatively spliced PDZ-motif proteinQ22010444
Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)Q24290749
Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathyQ24299388
Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathyQ24302785
A novel custom resequencing array for dilated cardiomyopathyQ24602132
Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 geneQ24656100
Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compactionQ28190028
Mutations in ZASP define a novel form of muscular dystrophy in humansQ28304080
Ablation of Cypher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathyQ28587879
De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathyQ34137061
Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromesQ35197101
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathyQ36330386
Cardiac-specific ablation of Cypher leads to a severe form of dilated cardiomyopathy with premature death.Q37292925
Desmosome-ion channel interactions and their possible role in arrhythmogenic cardiomyopathy.Q37992534
Combination of genetic screening and molecular dynamics as a useful tool for identification of disease-related mutations: ZASP PDZ domain G54S mutation caseQ44609727
Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy.Q54332402
Does sports activity enhance the risk of sudden death in adolescents and young adults?Q55037940
Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1Q55670706
A ZASP missense mutation, S196L, leads to cytoskeletal and electrical abnormalities in a mouse model of cardiomyopathyQ57185441
Familial Evaluation in Arrhythmogenic Right Ventricular CardiomyopathyQ57901803
P433issue2
P921main subjectarrhythmogenic right ventricular cardiomyopathyQ2555727
P304page(s)172-176
P577publication date2014-09-08
P1433published inClinical GeneticsQ5133760
P1476titleA mutation in the Z-line Cypher/ZASP protein is associated with arrhythmogenic right ventricular cardiomyopathy
P478volume88

Reverse relations

cites work (P2860)
Q38832827Animal Models of Congenital Cardiomyopathies Associated With Mutations in Z-Line Proteins.
Q97517249Genetic Animal Models for Arrhythmogenic Cardiomyopathy
Q93140938Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies
Q28085550Pathogenesis of Arrhythmogenic Cardiomyopathy
Q38657463Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies

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