Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy
暂无分享,去创建一个
[1] D. Frishman,et al. De novo mutations in FLNC leading to early‐onset restrictive cardiomyopathy and congenital myopathy , 2018, Human mutation.
[2] Kenneth L. Jones,et al. Filamin C Truncation Mutations Are Associated With Arrhythmogenic Dilated Cardiomyopathy and Changes in the Cell–Cell Adhesion Structures , 2018, JACC. Clinical electrophysiology.
[3] C. Dauphin,et al. Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy , 2017, Clinical genetics.
[4] Robert W. Mills,et al. Novel Mutation in FLNC (Filamin C) Causes Familial Restrictive Cardiomyopathy , 2017, Circulation. Cardiovascular genetics.
[5] S. Ware. Genetics of paediatric cardiomyopathies , 2017, Current opinion in pediatrics.
[6] V. Álvarez,et al. Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients , 2017, Circulation. Cardiovascular genetics.
[7] U. Landmesser,et al. Restrictive cardiomyopathy , 2017, Wiener klinische Wochenschrift.
[8] N. Salomonis,et al. Molecular Characterization of Pediatric Restrictive Cardiomyopathy from Integrative Genomics , 2017, Scientific Reports.
[9] L. Calò,et al. Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies. , 2016, Journal of the American College of Cardiology.
[10] J. Jais,et al. Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC. , 2016, Revue neurologique.
[11] D. Frishman,et al. Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing , 2016, PloS one.
[12] X. Puente,et al. Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C , 2016, European Journal of Human Genetics.
[13] Kenneth L. Jones,et al. FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy , 2016, JACC. Basic to translational science.
[14] E. González-López,et al. Idiopathic Restrictive Cardiomyopathy Is Primarily a Genetic Disease. , 2016, Journal of the American College of Cardiology.
[15] R. Bryson-Richardson,et al. Filamin C is a highly dynamic protein associated with fast repair of myofibrillar microdamage. , 2016, Human molecular genetics.
[16] R. Bryson-Richardson,et al. FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency. , 2016, Human molecular genetics.
[17] J. Schwartzentruber,et al. Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy , 2016, Human Mutation.
[18] James Y. Zou. Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.
[19] S. Ware. Evaluation of genetic causes of cardiomyopathy in childhood* , 2015, Cardiology in the Young.
[20] 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.
[21] Lorenzo L. Pesce,et al. Targeted Analysis of Whole Genome Sequence Data to Diagnose Genetic Cardiomyopathy , 2014, Circulation. Cardiovascular genetics.
[22] S. Ware,et al. Importance of genetic evaluation and testing in pediatric cardiomyopathy. , 2014, World journal of cardiology.
[23] X. Puente,et al. Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy , 2014, Nature Communications.
[24] R. Krijger,et al. Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects , 2014, European Journal of Human Genetics.
[25] Gert Vriend,et al. YASARA View—molecular graphics for all devices—from smartphones to workstations , 2014, Bioinform..
[26] Marco Biasini,et al. SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information , 2014, Nucleic Acids Res..
[27] Jana Marie Schwarz,et al. MutationTaster2: mutation prediction for the deep-sequencing age , 2014, Nature Methods.
[28] S. Heymans,et al. Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy. , 2013, Cardiovascular research.
[29] P. Elliott,et al. Restrictive cardiomyopathy and hypertrophic cardiomyopathy overlap: the importance of the phenotype , 2012 .
[30] J. Miller,et al. Predicting the Functional Effect of Amino Acid Substitutions and Indels , 2012, PloS one.
[31] S. Colan,et al. Outcomes of Restrictive Cardiomyopathy in Childhood and the Influence of Phenotype: A Report From the Pediatric Cardiomyopathy Registry , 2012, Circulation.
[32] I. Ferrer,et al. Pathophysiology of protein aggregation and extended phenotyping in filaminopathy. , 2012, Brain : a journal of neurology.
[33] L. Waddell,et al. Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late‐onset cerebellar ataxia , 2012, Muscle & nerve.
[34] J. Ylänne,et al. Filamins in mechanosensing and signaling. , 2012, Annual review of biophysics.
[35] Hanns Lochmüller,et al. Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency , 2011, Neurology.
[36] J. Towbin,et al. Genetics of cardiomyopathies in children , 2011 .
[37] L. Leinwand,et al. Cellular mechanisms of cardiomyopathy , 2011, The Journal of cell biology.
[38] H. Calkins,et al. 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). , 2011, Heart rhythm.
[39] Robert H. Brown,et al. Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy. , 2011, American journal of human genetics.
[40] Gert Vriend,et al. Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces , 2010, BMC Bioinformatics.
[41] S. Webber,et al. Restrictive cardiomyopathy in childhood. , 2010, Heart failure clinics.
[42] R. Kley,et al. The sarcomeric Z-disc component myopodin is a multiadapter protein that interacts with filamin and alpha-actinin. , 2010, European journal of cell biology.
[43] M. DePristo,et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.
[44] Wei Zhang,et al. A novel heterozygous deletion–insertion mutation (2695–2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family , 2010, Neuromuscular Disorders.
[45] P. Bork,et al. A method and server for predicting damaging missense mutations , 2010, Nature Methods.
[46] M. Hoch,et al. Chaperone-Assisted Selective Autophagy Is Essential for Muscle Maintenance , 2010, Current Biology.
[47] I. Ferrer,et al. In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy , 2009, European Journal of Human Genetics.
[48] C. Heyer,et al. Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients. , 2007, Brain : a journal of neurology.
[49] M. Vorgerd,et al. The pathomechanism of filaminopathy: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy. , 2007, Human molecular genetics.
[50] V. Rybin,et al. Crystal structure of human filamin C domain 23 and small angle scattering model for filamin C 23-24 dimer. , 2007, Journal of molecular biology.
[51] Stefan Eulitz,et al. Unusual splicing events result in distinct Xin isoforms that associate differentially with filamin c and Mena/VASP. , 2006, Experimental cell research.
[52] S. Webber,et al. Idiopathic restrictive cardiomyopathy in children , 2005, Heart.
[53] Hanns Lochmüller,et al. A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. , 2005, American journal of human genetics.
[54] C. Walsh,et al. The many faces of filamin: A versatile molecular scaffold for cell motility and signalling , 2004, Nature Cell Biology.
[55] C. Freed,et al. Tyrosine-to-Cysteine Modification of Human α-Synuclein Enhances Protein Aggregation and Cellular Toxicity* , 2004, Journal of Biological Chemistry.
[56] P. Stenson,et al. Human Gene Mutation Database (HGMD®): 2003 update , 2003, Human mutation.
[57] F. Hanefeld,et al. Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle , 2003, Journal of the Neurological Sciences.
[58] T. Helliwell,et al. The spectrum of pathology in central core disease , 2002, Neuromuscular Disorders.
[59] J. Hartwig,et al. Filamins as integrators of cell mechanics and signalling , 2001, Nature Reviews Molecular Cell Biology.
[60] Simon C Watkins,et al. Filamin 2 (FLN2): A Muscle-specific Sarcoglycan Interacting Protein , 2000 .
[61] C. Deber,et al. Alpha-helical, but not beta-sheet, propensity of proline is determined by peptide environment. , 1996, Proceedings of the National Academy of Sciences of the United States of America.
[62] M. Hecht,et al. De novo design of beta-sheet proteins. , 1994, Proceedings of the National Academy of Sciences of the United States of America.
[63] M. Fishbein,et al. Idiopathic restrictive cardiomyopathy. , 1984, Circulation.
[64] J. Wilkinson,et al. The Value of National Institutes of Health (NIH) Registry-Based Research in Identifying Childhood Cardiac Disease Outcomes: The Pediatric Cardiomyopathy Registry Experience , 2015 .
[65] J. Towbin. Inherited cardiomyopathies. , 2014, Circulation journal : official journal of the Japanese Circulation Society.
[66] L. Goldfarb,et al. DNA sequencing errors in molecular diagnostics of filamin myopathy , 2010, Clinical chemistry and laboratory medicine.
[67] V. Moiseev. [Genetics of cardiomyopathies]. , 2003, Kardiologiia.
[68] Elizabeth M. Smigielski,et al. dbSNP: the NCBI database of genetic variation , 2001, Nucleic Acids Res..
[69] L. Leinwand,et al. The cell biology of disease Cellular mechanisms of cardiomyopathy , 2022 .