scholarly article | Q13442814 |
P356 | DOI | 10.1111/CHD.12462 |
P698 | PubMed publication ID | 28326674 |
P50 | author | Michael J Ackerman | Q88833973 |
Kari L Turkowski | Q95990252 | ||
P2093 | author name string | David J Tester | |
Kristina H Haugaa | |||
J Martijn Bos | |||
P2860 | cites work | N-cadherin haploinsufficiency affects cardiac gap junctions and arrhythmic susceptibility. | Q36561910 |
Cell-cell connection to cardiac disease | Q36697431 | ||
Empowered genome community: leveraging a bioinformatics platform as a citizen-scientist collaboration tool | Q36717725 | ||
Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral | Q36927199 | ||
Resolving cadherin interactions and binding cooperativity at the single-molecule level | Q37068292 | ||
Structure and biochemistry of cadherins and catenins | Q37412674 | ||
UniProt: the universal protein knowledgebase | Q37556842 | ||
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). | Q37905310 | ||
Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members | Q41144205 | ||
Correct proteolytic cleavage is required for the cell adhesive function of uvomorulin | Q41719369 | ||
Cadherin2 (N-cadherin) plays an essential role in zebrafish cardiovascular development | Q42133959 | ||
Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models | Q42288039 | ||
Hippo activation in arrhythmogenic cardiomyopathy | Q42590360 | ||
Intercalated discs and arrhythmogenic cardiomyopathy | Q49028307 | ||
Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria. | Q55638651 | ||
The area composita of adhering junctions connecting heart muscle cells of vertebrates. II. Colocalizations of desmosomal and fascia adhaerens molecules in the intercalated disk | Q56627182 | ||
Cardiac-Specific Loss of N-Cadherin Leads to Alteration in Connexins With Conduction Slowing and Arrhythmogenesis | Q57396516 | ||
Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy | Q24306039 | ||
Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy | Q24310389 | ||
Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods | Q25255759 | ||
Analysis of protein-coding genetic variation in 60,706 humans | Q26831376 | ||
Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2 | Q28267888 | ||
Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy | Q28280387 | ||
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy | Q28288328 | ||
The area composita of adhering junctions connecting heart muscle cells of vertebrates. I. Molecular definition in intercalated disks of cardiomyocytes by immunoelectron microscopy of desmosomal proteins | Q28291070 | ||
Plakoglobin: a protein common to different kinds of intercellular adhering junctions | Q28299999 | ||
Induced deletion of the N-cadherin gene in the heart leads to dissolution of the intercalated disc structure | Q28303455 | ||
Determinants of protein function revealed by combinatorial entropy optimization | Q28755464 | ||
Identification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death | Q29347533 | ||
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm | Q29547194 | ||
A framework for variation discovery and genotyping using next-generation DNA sequencing data | Q29547262 | ||
Human non-synonymous SNPs: server and survey | Q29547603 | ||
A general framework for estimating the relative pathogenicity of human genetic variants | Q29615730 | ||
Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome. | Q33165674 | ||
Gene prioritization through genomic data fusion | Q33242612 | ||
Improved human disease candidate gene prioritization using mouse phenotype | Q33302863 | ||
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). | Q33910305 | ||
The "final common pathway" hypothesis and inherited cardiovascular disease. The role of cytoskeletal proteins in dilated cardiomyopathy | Q33974762 | ||
Predicting the functional effect of amino acid substitutions and indels | Q34441875 | ||
Arrhythmogenic right ventricular cardiomyopathy (ARVC): cardiovascular magnetic resonance update | Q34465268 | ||
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology | Q34465792 | ||
Expression Atlas update--an integrated database of gene and protein expression in humans, animals and plants. | Q34498575 | ||
Covalent and density-controlled surface immobilization of E-cadherin for adhesion force spectroscopy | Q35133556 | ||
Predicting the functional impact of protein mutations: application to cancer genomics | Q35224321 | ||
N-cadherin in the spotlight of cell-cell adhesion, differentiation, embryogenesis, invasion and signalling | Q35878904 | ||
Multiple cadherin extracellular repeats mediate homophilic binding and adhesion | Q36377936 | ||
Dysregulation of cell adhesion proteins and cardiac arrhythmogenesis | Q36440890 | ||
P433 | issue | 2 | |
P304 | page(s) | 226-235 | |
P577 | publication date | 2017-03-21 | |
P1433 | published in | Congenital Heart Disease | Q15761142 |
P1476 | title | Whole exome sequencing with genomic triangulation implicates CDH2-encoded N-cadherin as a novel pathogenic substrate for arrhythmogenic cardiomyopathy | |
P478 | volume | 12 |
Q38662414 | Cell models of arrhythmogenic cardiomyopathy: advances and opportunities |
Q90484226 | De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects |
Q97517249 | Genetic Animal Models for Arrhythmogenic Cardiomyopathy |
Q93140938 | Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies |
Q56980546 | Intercalated discs: cellular adhesion and signaling in heart health and diseases |
Q91557750 | Molecular mechanisms of arrhythmogenic cardiomyopathy |
Q90632760 | Natural History of Arrhythmogenic Cardiomyopathy |
Q47901214 | Ventricular tachycardia ablation in arrhythmogenic right ventricular cardiomyopathy patients with TMEM43 gene mutations |
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