Associated Papers
TITINdb2-expanding annotation and structural information for protein variants in the giant sarcomeric protein titin.
Weston T et al.
Bioinformatics Advances, 2025
Correlation between genetic alterations and clinicopathological features of papillary thyroid carcinomas.
Shang S et al.
The Journal of International Medical Research, 2024
Clinical and Genetic Features of Korean Inherited Arrhythmia Probands.
Jeong JH et al.
Korean Circulation Journal, 2023
Structural and signaling proteins in the Z-disk and their role in cardiomyopathies.
Noureddine M et al.
Frontiers in Physiology, 2023
Genetic Analysis of Cardiac Syncope-Related Genes in Korean Patients with Recurrent Neurally Mediated Syncope.
Lee SH et al.
Journal of Cardiovascular Development and Disease, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
The importance of chain context in assessing small nucleotide variants in titin: in silico case study of the I10-I11 tandem and its arrhythmic right ventricular cardiomyopathy linked position T2580.
Fleming JR et al.
Journal of Biomolecular Structure & Dynamics, 2021
Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia.
Kim B et al.
Scientific Reports, 2020
Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq.
Gao J et al.
International Journal of Molecular Sciences, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Structural, molecular motions, and free-energy landscape of Leishmania sterol-14α-demethylase wild type and drug resistant mutant: a comparative molecular dynamics study.
Vijayakumar S et al.
Journal of Biomolecular Structure & Dynamics, 2019
Dynamics and structural stability effects of germline PTEN mutations associated with cancer versus autism phenotypes.
Smith IN et al.
Journal of Biomolecular Structure & Dynamics, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
R516Q mutation in Melanoma differentiation-associated protein 5 (MDA5) and its pathogenic role towards rare Singleton-Merten syndrome; a signature associated molecular dynamics study.
Raghuraman P et al.
Journal of Biomolecular Structure & Dynamics, 2019
Effects of Peutz-Jeghers syndrome (PJS) causing missense mutations L67P, L182P, G242V and R297S on the structural dynamics of LKB1 (Liver kinase B1) protein.
Rungsung I et al.
Journal of Biomolecular Structure & Dynamics, 2019
A Computational Approach to Identify a Potential Alternative Drug With Its Positive Impact Toward PMP22.
Agrahari AK et al.
Journal of Cellular Biochemistry, 2017
Influence of V54M mutation in giant muscle protein titin: a computational screening and molecular dynamics approach.
Thirumal Kumar D et al.
Journal of Biomolecular Structure & Dynamics, 2017
Insights and Challenges of Multi-Scale Modeling of Sarcomere Mechanics in cTn and Tm DCM Mutants-Genotype to Cellular Phenotype.
Dewan S et al.
Frontiers in Physiology, 2017
Genetic Variations Leading to Familial Dilated Cardiomyopathy.
Cho KW et al.
Molecules and Cells, 2016
Exploration of pathomechanisms triggered by a single-nucleotide polymorphism in titin's I-band: the cardiomyopathy-linked mutation T2580I.
Bogomolovas J et al.
Open Biology, 2016
The Rapidly Evolving Role of Titin in Cardiac Physiology and Cardiomyopathy.
Gerull B
The Canadian Journal of Cardiology, 2015
Titin mutations: the fall of Goliath.
Neiva-Sousa M et al.
Heart Failure Reviews, 2015
A rising titan: TTN review and mutation update.
Chauveau C et al.
Human Mutation, 2014
Global DNA methylation and transcriptional analyses of human ESC-derived cardiomyocytes.
Gu Y et al.
Protein & Cell, 2013
Dilated cardiomyopathy: a disease of the myocardium.
Sanbe A
Biological & Pharmaceutical Bulletin, 2013
Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes.
Taylor M et al.
Circulation, 2011
Molecular etiology and pathogenesis of hereditary cardiomyopathy.
Kimura A
Circulation Journal : Official Journal of the Japanese Circulation Society, 2008
Molecular etiology of idiopathic cardiomyopathy.
Arimura T et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2007
Sarcomeric protein mutations in dilated cardiomyopathy.
Chang AN et al.
Heart Failure Reviews, 2005
Functional analysis of titin/connectin N2-B mutations found in cardiomyopathy.
Matsumoto Y et al.
Journal of Muscle Research and Cell Motility, 2005
Titin mutations as the molecular basis for dilated cardiomyopathy.
Itoh-Satoh M et al.
Biochemical and Biophysical Research Communications, 2002
Walking with giants: The challenges of variant impact assessment in the giant sarcomeric protein titin.
Weston TGR et al.
Wires Mechanisms of Disease, 0