Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations

scientific article

Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1093/HMG/DDS022
P932PMC publication ID3315208
P698PubMed publication ID22286171
P5875ResearchGate publication ID221785745

P50authorSiegfried LabeitQ30159057
William McKennaQ37375368
Peta AlexanderQ51856373
Jeffrey A TowbinQ87444535
Michael J AckermanQ88833973
Robert WeintraubQ115217101
Takuro ArimuraQ127113095
P2093author name stringHiroki Shibata
Michael D Taylor
Fumio Terasaki
Yasushi Kitaura
Akinori Kimura
Debra L Kearney
Ross T Murphy
Megumi Takahashi
Enkhsaikhan Purevjav
Jeong-Euy Park
Anne-Cecile Huby
Steve R Ommen
Ken Takagi
Noboru Machida
Shinichi Nunoda
Manatsu Itoh-Satoh
Johan M Bos
Sibylle Augustin
Yoichi Yamanaka
P2860cites workMyopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assembliesQ24291134
The Muscle Ankyrin Repeat Proteins: CARP, ankrd2/Arpp and DARP as a Family of Titin Filament-based Stress Response MoleculesQ24298616
Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathyQ24300083
Nebulette Mutations Are Associated With Dilated Cardiomyopathy and Endocardial FibroelastosisQ24303466
ANKRD1, the gene encoding cardiac ankyrin repeat protein, is a novel dilated cardiomyopathy geneQ24315109
A novel role for cardiac ankyrin repeat protein Ankrd1/CARP as a co-activator of the p53 tumor suppressor proteinQ24337330
A method and server for predicting damaging missense mutationsQ27860835
The failing heartQ28216352
Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formationQ28287493
The transitional junction: a new functional subcellular domain at the intercalated discQ28297685
Dilated cardiomyopathyQ33158421
The "final common pathway" hypothesis and inherited cardiovascular disease. The role of cytoskeletal proteins in dilated cardiomyopathyQ33974762
Left Ventricular Noncompaction: A New Form of Heart FailureQ34623785
Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathyQ34714041
Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathyQ34992640
The giant protein titin: a major player in myocardial mechanics, signaling, and diseaseQ35672016
At the crossroads of myocardial signaling: the role of Z-discs in intracellular signaling and cardiac function.Q35672020
Alterations in cardiac connexin expression in cardiomyopathiesQ36463264
Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expressionQ37070209
Cytoplasmic Ig-domain proteins: cytoskeletal regulators with a role in human diseaseQ37494624
Arrhythmogenic cardiomyopathy: etiology, diagnosis, and treatmentQ37670848
Vinculin, an adapter protein in control of cell adhesion signallingQ37775233
Analysis of the Z-disc genes PDLIM3 and MYPN in patients with hypertrophic cardiomyopathy.Q55053362
Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria.Q55638651
Restrictive CardiomyopathyQ56987012
Pulsatile stretch remodels cell-to-cell communication in cultured myocytesQ74188051
Arrhythmogenic right ventricular cardiomyopathy: a 'final common pathway' that defines clinical phenotypeQ79782202
Obstructive hypertrophic cardiomyopathy is associated with reduced expression of vinculin in the intercalated discQ80204091
The ubiquitin-proteasome system may be involved in the pathogenesis of hypertrophic cardiomyopathyQ81526256
Desmosomal gene variants in patients with "possible ARVC"Q83654236
Arrhythmogenic cardiomyopathy and abnormalities of cell-to-cell couplingQ84094747
???Q28304085
P433issue9
P921main subjectheterogeneityQ928498
P304page(s)2039-2053
P577publication date2012-01-27
P1433published inHuman Molecular GeneticsQ2720965
P1476titleMolecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations
P478volume21

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cites work (P2860)
Q36932655Altered regional cardiac wall mechanics are associated with differential cardiomyocyte calcium handling due to nebulette mutations in preclinical inherited dilated cardiomyopathy
Q38832827Animal Models of Congenital Cardiomyopathies Associated With Mutations in Z-Line Proteins.
Q33595276Approaching the facts between genetic mutation and clinical practice of hypertrophic cardiomyopathy: A case report with RAF1 770C>T mutant
Q29147433Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy
Q99618716Biological roles of Yin Yang 2: Its implications in physiological and pathological events
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Q36859420Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.
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