Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy
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X. Wehrens | H. Galehdari | R. Maroofian | M. Zamani | Y. Jamshidi | A. Sedaghat | T. Seifi | G. Shariati | Neda Mazaheri | Hugh D. Allen | A. Landstrom | E. Jones
[1] C. Vasilescu,et al. Genetic Basis of Severe Childhood-Onset Cardiomyopathies. , 2018, Journal of the American College of Cardiology.
[2] T. Heliö,et al. Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure , 2018, PloS one.
[3] J. Rosenfeld,et al. Amino acid-level signal-to-noise analysis of incidentally identified variants in genes associated with long QT syndrome during pediatric whole exome sequencing reflects background genetic noise. , 2018, Heart rhythm.
[4] Cristina Has,et al. Faculty of 1000 evaluation for 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. , 2018 .
[5] Chunlei Liu,et al. ClinVar: improving access to variant interpretations and supporting evidence , 2017, Nucleic Acids Res..
[6] Astrid Gall,et al. Ensembl 2018 , 2017, Nucleic Acids Res..
[7] J. Rosenfeld,et al. Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals , 2017, Circulation. Arrhythmia and electrophysiology.
[8] R. Pautler,et al. Novel Junctophilin-2 Mutation A405S Is Associated With Basal Septal Hypertrophy and Diastolic Dysfunction , 2017, JACC. Basic to translational science.
[9] S. Cook,et al. Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes , 2017, European heart journal.
[10] C. Yancy,et al. Current Diagnostic and Treatment Strategies for Specific Dilated Cardiomyopathies: A Scientific Statement From the American Heart Association. , 2016, Circulation.
[11] Daniel Rueckert,et al. Titin truncating variants affect heart function in disease cohorts and the general population , 2016, Nature Genetics.
[12] M. Sabater-Molina,et al. Mutation in JPH2 cause dilated cardiomyopathy , 2016, Clinical genetics.
[13] Anason S. Halees,et al. Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery , 2016, Nature Genetics.
[14] Raymond Dalgleish,et al. HGVS Recommendations for the Description of Sequence Variants: 2016 Update , 2016, Human mutation.
[15] D. MacArthur,et al. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples , 2016, Genetics in Medicine.
[16] James Y. Zou. Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.
[17] Michael Brudno,et al. PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases , 2015, Human mutation.
[18] Gabor T. Marth,et al. A global reference for human genetic variation , 2015, Nature.
[19] Bale,et al. 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 , 2015, Genetics in Medicine.
[20] A. StAteMent. ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing , 2014, Genetics in Medicine.
[21] Magalie S Leduc,et al. Molecular findings among patients referred for clinical whole-exome sequencing. , 2014, JAMA.
[22] X. Wehrens,et al. Emerging roles of junctophilin-2 in the heart and implications for cardiac diseases. , 2014, Cardiovascular research.
[23] X. Wehrens,et al. The junctophilin family of proteins: from bench to bedside. , 2014, Trends in molecular medicine.
[24] Xiang-Dong Fu,et al. CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration , 2014, Cell.
[25] Sivakumar Gowrisankar,et al. The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing , 2014, Genetics in Medicine.
[26] M. Ackerman,et al. Mutation E169K in junctophilin-2 causes atrial fibrillation due to impaired RyR2 stabilization. , 2013, Journal of the American College of Cardiology.
[27] Magalie S Leduc,et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. , 2013, The New England journal of medicine.
[28] Marc S. Williams,et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing , 2013, Genetics in Medicine.
[29] W. Gao,et al. Ultrastructural uncoupling between T-tubules and sarcoplasmic reticulum in human heart failure. , 2013, Cardiovascular research.
[30] Michael J Ackerman,et al. Phylogenetic and Physicochemical Analyses Enhance the Classification of Rare Nonsynonymous Single Nucleotide Variants in Type 1 and 2 Long-QT Syndrome , 2012, Circulation. Cardiovascular genetics.
[31] Michael J Ackerman,et al. Disrupted Junctional Membrane Complexes and Hyperactive Ryanodine Receptors After Acute Junctophilin Knockdown in Mice , 2011, Circulation.
[32] M. Ackerman,et al. Junctophilin-2 Expression Silencing Causes Cardiocyte Hypertrophy and Abnormal Intracellular Calcium-Handling , 2011, Circulation: Heart Failure.
[33] Sheng Wei,et al. T-Tubule Remodeling During Transition From Hypertrophy to Heart Failure , 2010, Circulation research.
[34] Eloisa Arbustini,et al. Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. , 2007, European heart journal.
[35] S. Ommen,et al. Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans. , 2007, Journal of molecular and cellular cardiology.
[36] Yinhan Liu,et al. Intermolecular Failure of L-type Ca2+ Channel and Ryanodine Receptor Signaling in Hypertrophy , 2007, PLoS biology.
[37] Hanan Hamamy,et al. Genetic disorders in the Arab world , 2006, BMJ : British Medical Journal.
[38] R. Hershberger,et al. Clinical and genetic issues in familial dilated cardiomyopathy. , 2005, Journal of the American College of Cardiology.
[39] Y. Ishikawa,et al. Junctophilin type 2 is associated with caveolin-3 and is down-regulated in the hypertrophic and dilated cardiomyopathies. , 2004, Biochemical and biophysical research communications.
[40] D. Bers. Cardiac excitation–contraction coupling , 2002, Nature.
[41] M. Iino,et al. Junctophilins: a novel family of junctional membrane complex proteins. , 2000, Molecular cell.
[42] V. Sheffield,et al. Use of isolated inbred human populations for identification of disease genes. , 1998, Trends in genetics : TIG.
[43] B Maisch,et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. , 1996, Circulation.
[44] C W Balke,et al. Local calcium transients triggered by single L-type calcium channel currents in cardiac cells. , 1995, Science.
[45] K. Sullivan,et al. OpenEpi: Open Source Epidemiologic Statistics for Public Health. Version 2.3.1. , 2013 .
[46] L. Trümper. From bench to bedside , 2005, Medizinische Klinik.
[47] P. Freedson,et al. Scientific Statement From the American Heart Association Guide to the Assessment of Physical Activity: Clinical and Research Applications: A , 2015 .