Desmin, desminopathy and the complexity of genetics.Published on Mar 1, 2016in Journal of Molecular and Cellular Cardiology5.05· DOI :10.1016/j.yjmcc.2016.01.017Copy DOIValerio Azzimato4Estimated H-index: 4 (Karolinska University Hospital), Nina Gennebäck1Estimated H-index: 1 (Karolinska University Hospital)+ 2 AuthorsRalph Knöll24Estimated H-index: 24 (AstraZeneca)Request Full-textCiteAbstract
References16NewestFunctional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect.Feb 1, 2016·Journal of Molecular and Cellular Cardiology5.05#1Andreas Brodehl (Libin Cardiovascular Institute of Alberta)H-Index: 9#2Mareike Dieding (Bielefeld University)H-Index: 7Last.Hendrik Milting (RUB: Ruhr University Bochum)H-Index: 27view all 13 authors...18 CitationsSourceCiteSaveDynamics of Cell Generation and Turnover in the Human HeartJun 1, 2015·Cell36.22#1Olaf Bergmann (KI: Karolinska Institutet)H-Index: 17#2Sofia Zdunek (KI: Karolinska Institutet)H-Index: 8Last.Jonas Frisén (KI: Karolinska Institutet)H-Index: 68view all 18 authors...296 CitationsSourceCiteSaveStandards 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 PathologyMay 1, 2015·Genetics in Medicine8.68#1Sue Richards (OHSU: Oregon Health & Science University)H-Index: 5#2Nazneen Aziz (Boston Children's Hospital)H-Index: 6Last.Heidi L. Rehm (Harvard University)H-Index: 51view all 12 authors...4,410 CitationsSourceCiteSaveA novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathiesJul 1, 2013·Journal of Medical Genetics5.90#1Nilgun Cetin (Hacettepe University)H-Index: 1#2Burcu Balci-Hayta (Hacettepe University)H-Index: 4Last.Pervin Dincer (Hacettepe University)H-Index: 11view all 10 authors...36 CitationsSourceCiteSaveUnequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathyNov 1, 2011·Basic Research in Cardiology6.47#1Snigdha Tripathi (MHH: Hannover Medical School)H-Index: 5#2Imke Schultz (MHH: Hannover Medical School)H-Index: 2Last.Theresia Kraft (MHH: Hannover Medical School)H-Index: 22view all 13 authors...34 CitationsSourceCiteSaveDe novo desmin mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathyDec 1, 2010·Human Molecular Genetics4.54#1Baerbel KlaukeH-Index: 7#2Sabine KossmannH-Index: 1Last.Hendrik MiltingH-Index: 27view all 16 authors...95 CitationsSourceCiteSaveDesmin mutations as a cause of right ventricular heart failure affect the intercalated disksAug 1, 2010·Heart & Lung1.84#1Ellen Otten (UMCG: University Medical Center Groningen)H-Index: 9#2Angeliki Asimaki (BIDMC: Beth Israel Deaconess Medical Center)H-Index: 22Last.Tintelen van J. P (UMCG: University Medical Center Groningen)H-Index: 41view all 11 authors...74 CitationsSourceCiteSaveTragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle diseaseJul 1, 2009·Journal of Clinical Investigation12.28#1Lev G. GoldfarbH-Index: 49#2Marinos C. DalakasH-Index: 91146 CitationsSourceCiteSaveMyofiber integrity depends on desmin network targeting to Z-disks and costameres via distinct plectin isoformsMay 19, 2008·Journal of Cell Biology8.89#1Patryk Konieczny (University of Vienna)H-Index: 3#2Peter Fuchs (University of Vienna)H-Index: 13Last.Gerhard Wiche (University of Vienna)H-Index: 13view all 9 authors...103 CitationsSourceCiteSaveProper Perinuclear Localization of the TRIM-like Protein Myospryn Requires Its Binding Partner DesminNov 30, 2007·Journal of Biological Chemistry#1Asimina KouloumentaH-Index: 2#2Manolis MavroidisH-Index: 9Last.Yassemi CapetanakiH-Index: 28view all 3 authors...46 CitationsSourceCiteSave12
Cited By8NewestANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structureDec 1, 2019·Scientific Reports4.01#1Adam Jarmuła (Nencki Institute of Experimental Biology)H-Index: 7#2Anna Łusakowska (Medical University of Warsaw)H-Index: 5Last.Maria Jolanta Redowicz (Nencki Institute of Experimental Biology)H-Index: 14view all 14 authors...1 CitationsSourceCiteSaveIntermediate filaments in cardiomyopathyAug 1, 2018·Biophysical Reviews#1Mary Tsikitis (Academy of Athens)H-Index: 6#2Zoi Galata (Academy of Athens)H-Index: 3Last.Yassemi Capetanaki (Academy of Athens)H-Index: 28view all 5 authors...6 CitationsSourceCiteSaveAberrant Mitochondrial Fission Is Maladaptive in Desmin Mutation–Induced Cardiac ProteotoxicityJul 17, 2018·Journal of the American Heart Association4.66#1Shafiul Alam (LSU Health Sciences Center Shreveport)H-Index: 13#2Chowdhury S. Abdullah (LSU Health Sciences Center Shreveport)H-Index: 4Last.Md. Shenuarin Bhuiyan (LSU Health Sciences Center Shreveport)H-Index: 17view all 10 authors...2 CitationsSourceCiteSaveA novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathyMar 1, 2018·Molecular Genetics & Genomic Medicine#1Ilona Schirmer (RUB: Ruhr University Bochum)H-Index: 3#2Mareike Dieding (Bielefeld University)H-Index: 7Last.Hendrik Milting (RUB: Ruhr University Bochum)H-Index: 27view all 11 authors...4 CitationsSourceCiteSaveNovel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/DysplasiaDec 6, 2017·Circulation23.05#1Francisco José Bermúdez-Jiménez (UGR: University of Granada)H-Index: 3#2Víctor Carriel (UGR: University of Granada)H-Index: 17Last.Juan Jiménez-Jáimez (UGR: University of Granada)H-Index: 9view all 14 authors...12 CitationsSourceCiteSaveFunctional studies can contribute to predict the pathogenicity of a novel mutation for cardiomyopathyAug 1, 2017·Journal of Molecular and Cellular Cardiology5.05#1Andreas Brodehl (RUB: Ruhr University Bochum)H-Index: 9#2Hendrik Milting (RUB: Ruhr University Bochum)H-Index: 27SourceCiteSaveOverview of the Muscle Cytoskeleton.Jun 18, 2017·Comprehensive Physiology6.25#1Christine A. Henderson (UA: University of Arizona)H-Index: 2#2Christopher G. Gomez (UA: University of Arizona)H-Index: 1Last.Carol C. Gregorio (UA: University of Arizona)H-Index: 37view all 5 authors...20 CitationsSourceCiteSaveExome Sequencing Identifies a Novel DES Mutation (R227C) in a Chinese Dilated Cardiomyopathy Family.Jan 1, 2017·World review of nutrition and dietetics1.30#1Rong YuH-Index: 1#2Lv LiuH-Index: 4Last.Jin-Mei ShenH-Index: 1view all 4 authors...6 CitationsSourceCiteSave1