De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy

Klauke B, Kossmann S, Gaertner A, Brand K, Stork I, Brodehl A, Dieding M, Walhorn V, Anselmetti D, Gerdes D, Bohms B, et al. (2010)

Es wurde kein Volltext hochgeladen. Nur Publikationsnachweis!
Zeitschriftenaufsatz | Veröffentlicht | Englisch
; ; ; ; ; ; ; ; ; ; ;
Abstract / Bemerkung
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease, frequently accompanied by sudden cardiac death and terminal heart failure. Genotyping of ARVC patients might be used for palliative treatment of the affected family. We genotyped a cohort of 22 ARVC patients referred to molecular genetic screening in our heart center for mutations in the desmosomal candidate genes JUP, DSG2, DSC2, DSP and PKP2 known to be associated with ARVC. In 43% of the cohort, we found disease-associated sequence variants. In addition, we screened for desmin mutations and found a novel desmin-mutation p. N116S in a patient with ARVC and terminal heart failure, which is located in segment 1A of the desmin rod domain. The mutation leads to the aggresome formation in cardiac and skeletal muscle without signs of an overt clinical myopathy. Cardiac aggresomes appear to be prominent, especially in the right ventricle of the heart. Viscosimetry and atomic force microscopy of the desmin wild-type and N116S mutant isolated from recombinant Escherichia coli revealed severe impairment of the filament formation, which was supported by transfections in SW13 cells. Thus, the gene coding for desmin appears to be a novel ARVC gene, which should be included in molecular genetic screening of ARVC patients.


Klauke B, Kossmann S, Gaertner A, et al. De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. HUMAN MOLECULAR GENETICS. 2010;19(23):4595-4607.
Klauke, B., Kossmann, S., Gaertner, A., Brand, K., Stork, I., Brodehl, A., Dieding, M., et al. (2010). De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. HUMAN MOLECULAR GENETICS, 19(23), 4595-4607. doi:10.1093/hmg/ddq387
Klauke, B., Kossmann, S., Gaertner, A., Brand, K., Stork, I., Brodehl, A., Dieding, M., Walhorn, V., Anselmetti, D., Gerdes, D., et al. (2010). De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. HUMAN MOLECULAR GENETICS 19, 4595-4607.
Klauke, B., et al., 2010. De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. HUMAN MOLECULAR GENETICS, 19(23), p 4595-4607.
B. Klauke, et al., “De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy”, HUMAN MOLECULAR GENETICS, vol. 19, 2010, pp. 4595-4607.
Klauke, B., Kossmann, S., Gaertner, A., Brand, K., Stork, I., Brodehl, A., Dieding, M., Walhorn, V., Anselmetti, D., Gerdes, D., Bohms, B., Schulz, U., Knyphausen, E.Z., Vorgerd, M., Gummert, J., Milting, H.: De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. HUMAN MOLECULAR GENETICS. 19, 4595-4607 (2010).
Klauke, Baerbel, Kossmann, Sabine, Gaertner, Anna, Brand, Kristina, Stork, Ines, Brodehl, Andreas, Dieding, Mareike, Walhorn, Volker, Anselmetti, Dario, Gerdes, Desiree, Bohms, Birte, Schulz, Uwe, Knyphausen, Edzard Zu, Vorgerd, Matthias, Gummert, Jan, and Milting, Hendrik. “De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy”. HUMAN MOLECULAR GENETICS 19.23 (2010): 4595-4607.

63 Zitationen in Europe PMC

Daten bereitgestellt von Europe PubMed Central.

Incorporation of desmocollin-2 into the plasma membrane requires N-glycosylation at multiple sites.
Brodehl A, Stanasiuk C, Anselmetti D, Gummert J, Milting H., FEBS Open Bio 9(5), 2019
PMID: 30942563
Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia.
Bermúdez-Jiménez FJ, Carriel V, Brodehl A, Alaminos M, Campos A, Schirmer I, Milting H, Abril BÁ, Álvarez M, López-Fernández S, García-Giustiniani D, Monserrat L, Tercedor L, Jiménez-Jáimez J., Circulation 137(15), 2018
PMID: 29212896
Absence of synemin in mice causes structural and functional abnormalities in heart.
García-Pelagio KP, Chen L, Joca HC, Ward C, Jonathan Lederer W, Bloch RJ., J Mol Cell Cardiol 114(), 2018
PMID: 29247678
Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) in clinical practice.
Li KHC, Bazoukis G, Liu T, Li G, Wu WKK, Wong SH, Wong WT, Chan YS, Wong MCS, Wassilew K, Vassiliou VS, Tse G., J Arrhythm 34(1), 2018
PMID: 29721109
Cell autonomous role of iASPP deficiency in causing cardiocutaneous disorders.
Dedeić Z, Sutendra G, Hu Y, Chung K, Slee EA, White MJ, Zhou FY, Goldin RD, Ferguson DJP, McAndrew D, Schneider JE, Lu X., Cell Death Differ 25(7), 2018
PMID: 29352264
Unexplained cardiac arrest: a tale of conflicting interpretations of KCNQ1 genetic test results.
Chua HC, Servatius H, Asatryan B, Schaller A, Rieubland C, Noti F, Seiler J, Roten L, Baldinger SH, Tanner H, Fuhrer J, Haeberlin A, Lam A, Pless SA, Medeiros-Domingo A., Clin Res Cardiol 107(8), 2018
PMID: 29582136
Molecular insights into cardiomyopathies associated with desmin (DES) mutations.
Brodehl A, Gaertner-Rommel A, Milting H., Biophys Rev 10(4), 2018
PMID: 29926427
Genomic Insights into Cardiomyopathies: A Comparative Cross-Species Review.
Simpson S, Rutland P, Rutland CS., Vet Sci 4(1), 2017
PMID: 29056678
Wnt/β-catenin pathway in arrhythmogenic cardiomyopathy.
Lorenzon A, Calore M, Poloni G, De Windt LJ, Braghetta P, Rampazzo A., Oncotarget 8(36), 2017
PMID: 28948000
Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies.
Forleo C, D'Erchia AM, Sorrentino S, Manzari C, Chiara M, Iacoviello M, Guaricci AI, De Santis D, Musci RL, La Spada A, Marangelli V, Pesole G, Favale S., PLoS One 12(7), 2017
PMID: 28750076
Sudden cardiac death: focus on the genetics of channelopathies and cardiomyopathies.
Magi S, Lariccia V, Maiolino M, Amoroso S, Gratteri S., J Biomed Sci 24(1), 2017
PMID: 28810874
Desmin, desminopathy and the complexity of genetics.
Azzimato V, Gennebäck N, Tabish AM, Buyandelger B, Knöll R., J Mol Cell Cardiol 92(), 2016
PMID: 26807690
Arrhythmogenic right-ventricular cardiomyopathy: molecular genetics into clinical practice in the era of next generation sequencing.
Poloni G, De Bortoli M, Calore M, Rampazzo A, Lorenzon A., J Cardiovasc Med (Hagerstown) 17(6), 2016
PMID: 26990921
Arrhythmogenic Right Ventricular Dysplasia in Neuromuscular Disorders.
Finsterer J, Stöllberger C., Clin Med Insights Cardiol 10(), 2016
PMID: 27790050
The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus.
Milting H, Klauke B, Christensen AH, Müsebeck J, Walhorn V, Grannemann S, Münnich T, Šarić T, Rasmussen TB, Jensen HK, Mogensen J, Baecker C, Romaker E, Laser KT, zu Knyphausen E, Kassner A, Gummert J, Judge DP, Connors S, Hodgkinson K, Young TL, van der Zwaag PA, van Tintelen JP, Anselmetti D., Eur Heart J 36(14), 2015
PMID: 24598986
A mutation in the Z-line Cypher/ZASP protein is associated with arrhythmogenic right ventricular cardiomyopathy.
Lopez-Ayala JM, Ortiz-Genga M, Gomez-Milanes I, Lopez-Cuenca D, Ruiz-Espejo F, Sanchez-Munoz JJ, Oliva-Sandoval MJ, Monserrat L, Gimeno JR., Clin Genet 88(2), 2015
PMID: 25041374
Arrhythmogenic cardiomyopathy: a disease of intercalated discs.
Calore M, Lorenzon A, De Bortoli M, Poloni G, Rampazzo A., Cell Tissue Res 360(3), 2015
PMID: 25344329
Mechanotransduction in cardiac hypertrophy and failure.
Lyon RC, Zanella F, Omens JH, Sheikh F., Circ Res 116(8), 2015
PMID: 25858069
Complement system modulation as a target for treatment of arrhythmogenic cardiomyopathy.
Mavroidis M, Davos CH, Psarras S, Varela A, C Athanasiadis N, Katsimpoulas M, Kostavasili I, Maasch C, Vater A, van Tintelen JP, Capetanaki Y., Basic Res Cardiol 110(3), 2015
PMID: 25851234
Relationship between arrhythmogenic right ventricular dysplasia and exercise.
Sawant AC, Calkins H., Card Electrophysiol Clin 7(2), 2015
PMID: 26002386
Desmoglein 2-Dependent Arrhythmogenic Cardiomyopathy Is Caused by a Loss of Adhesive Function.
Kant S, Holthöfer B, Magin TM, Krusche CA, Leube RE., Circ Cardiovasc Genet 8(4), 2015
PMID: 26085008
The physiological role of cardiac cytoskeleton and its alterations in heart failure.
Sequeira V, Nijenkamp LL, Regan JA, van der Velden J., Biochim Biophys Acta 1838(2), 2014
PMID: 23860255
Protein kinetic signatures of the remodeling heart following isoproterenol stimulation.
Lam MP, Wang D, Lau E, Liem DA, Kim AK, Ng DC, Liang X, Bleakley BJ, Liu C, Tabaraki JD, Cadeiras M, Wang Y, Deng MC, Ping P., J Clin Invest 124(4), 2014
PMID: 24614109
Desmosomes in the heart: a review of clinical and mechanistic analyses.
Patel DM, Green KJ., Cell Commun Adhes 21(3), 2014
PMID: 24754498
Importance of genetic evaluation and testing in pediatric cardiomyopathy.
Tariq M, Ware SM., World J Cardiol 6(11), 2014
PMID: 25429328
Intercalated discs and arrhythmogenic cardiomyopathy.
Rampazzo A, Calore M, van Hengel J, van Roy F., Circ Cardiovasc Genet 7(6), 2014
PMID: 25516623
Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes.
Gudkova A, Kostareva A, Sjoberg G, Smolina N, Turalchuk M, Kuznetsova I, Rybakova M, Edstrom L, Shlyakhto E, Sejersen T., Pediatr Cardiol 34(2), 2013
PMID: 22484823
Functional characterization of desmin mutant p.P419S.
Brodehl A, Dieding M, Cakar H, Klauke B, Walhorn V, Gummert J, Anselmetti D, Milting H., Eur J Hum Genet 21(6), 2013
PMID: 23032110
Desminopathies: pathology and mechanisms.
Clemen CS, Herrmann H, Strelkov SV, Schröder R., Acta Neuropathol 125(1), 2013
PMID: 23143191
Desmin mutations and arrhythmogenic right ventricular cardiomyopathy.
Lorenzon A, Beffagna G, Bauce B, De Bortoli M, Li Mura IE, Calore M, Dazzo E, Basso C, Nava A, Thiene G, Rampazzo A., Am J Cardiol 111(3), 2013
PMID: 23168288
Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era.
Teekakirikul P, Kelly MA, Rehm HL, Lakdawala NK, Funke BH., J Mol Diagn 15(2), 2013
PMID: 23274168
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.
Lopes LR, Zekavati A, Syrris P, Hubank M, Giambartolomei C, Dalageorgou C, Jenkins S, McKenna W, Uk10k Consortium, Plagnol V, Elliott PM., J Med Genet 50(4), 2013
PMID: 23396983
Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy.
Li Mura IE, Bauce B, Nava A, Fanciulli M, Vazza G, Mazzotti E, Rigato I, De Bortoli M, Beffagna G, Lorenzon A, Calore M, Dazzo E, Nobile C, Mostacciuolo ML, Corrado D, Basso C, Daliento L, Thiene G, Rampazzo A., Eur J Hum Genet 21(11), 2013
PMID: 23486541
Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy.
Maerkens A, Kley RA, Olivé M, Theis V, van der Ven PF, Reimann J, Milting H, Schreiner A, Uszkoreit J, Eisenacher M, Barkovits K, Güttsches AK, Tonillo J, Kuhlmann K, Meyer HE, Schröder R, Tegenthoff M, Fürst DO, Müller T, Goldfarb LG, Vorgerd M, Marcus K., J Proteomics 90(), 2013
PMID: 23639843
Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.
Bhonsale A, James CA, Tichnell C, Murray B, Madhavan S, Philips B, Russell SD, Abraham T, Tandri H, Judge DP, Calkins H., Circ Arrhythm Electrophysiol 6(3), 2013
PMID: 23671136
Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D).
Iyer VR, Chin AJ., Am J Med Genet C Semin Med Genet 163C(3), 2013
PMID: 23824749
Update on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C).
James CA, Calkins H., Curr Treat Options Cardiovasc Med 15(4), 2013
PMID: 23728845
Mechanistic basis of desmosome-targeted diseases.
Al-Jassar C, Bikker H, Overduin M, Chidgey M., J Mol Biol 425(21), 2013
PMID: 23911551
Apertureless scanning near-field optical microscopy of sparsely labeled tobacco mosaic viruses and the intermediate filament desmin.
Harder A, Dieding M, Walhorn V, Degenhard S, Brodehl A, Wege C, Milting H, Anselmetti D., Beilstein J Nanotechnol 4(), 2013
PMID: 24062977
Myofibrillar myopathies: new developments.
Olivé M, Kley RA, Goldfarb LG., Curr Opin Neurol 26(5), 2013
PMID: 23995273
The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death.
Brodehl A, Dieding M, Klauke B, Dec E, Madaan S, Huang T, Gargus J, Fatima A, Saric T, Cakar H, Walhorn V, Tönsing K, Skrzipczyk T, Cebulla R, Gerdes D, Schulz U, Gummert J, Svendsen JH, Olesen MS, Anselmetti D, Christensen AH, Kimonis V, Milting H., Circ Cardiovasc Genet 6(6), 2013
PMID: 24200904
Usefulness of immunostaining for plakoglobin as a diagnostic marker of arrhythmogenic right ventricular cardiomyopathy.
Munkholm J, Christensen AH, Svendsen JH, Andersen CB., Am J Cardiol 109(2), 2012
PMID: 22036107
Myocardial transcriptome analysis of human arrhythmogenic right ventricular cardiomyopathy.
Gaertner A, Schwientek P, Ellinghaus P, Summer H, Golz S, Kassner A, Schulz U, Gummert J, Milting H., Physiol Genomics 44(1), 2012
PMID: 22085907
Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy.
Quarta G, Syrris P, Ashworth M, Jenkins S, Zuborne Alapi K, Morgan J, Muir A, Pantazis A, McKenna WJ, Elliott PM., Eur Heart J 33(9), 2012
PMID: 22199124
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.
Hedberg C, Melberg A, Kuhl A, Jenne D, Oldfors A., Eur J Hum Genet 20(9), 2012
PMID: 22395865
Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutants.
Brodehl A, Hedde PN, Dieding M, Fatima A, Walhorn V, Gayda S, Šarić T, Klauke B, Gummert J, Anselmetti D, Heilemann M, Nienhaus GU, Milting H., J Biol Chem 287(19), 2012
PMID: 22403400
Arrhythmogenic right ventricular cardiomyopathy: an update on pathophysiology, genetics, diagnosis, and risk stratification.
Paul M, Wichter T, Fabritz L, Waltenberger J, Schulze-Bahr E, Kirchhof P., Herzschrittmacherther Elektrophysiol 23(3), 2012
PMID: 23011601
In vitro functional analyses of arrhythmogenic right ventricular cardiomyopathy-associated desmoglein-2-missense variations.
Gaertner A, Klauke B, Stork I, Niehaus K, Niemann G, Gummert J, Milting H., PLoS One 7(10), 2012
PMID: 23071725
Clinical and genetic characterization of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy caused by a plakophilin-2 splice mutation.
van der Smagt JJ, van der Zwaag PA, van Tintelen JP, Cox MG, Wilde AA, van Langen IM, Ummels A, Hennekam FA, Dooijes D, Gerbens F, Bikker H, Hauer RN, Doevendans PA., Cardiology 123(3), 2012
PMID: 23147395
Genetics of mechanosensation in the heart.
Buyandelger B, Ng KE, Miocic S, Gunkel S, Piotrowska I, Ku CH, Knöll R., J Cardiovasc Transl Res 4(3), 2011
PMID: 21360311
Clinical phenotype and diagnosis of arrhythmogenic right ventricular cardiomyopathy in pediatric patients carrying desmosomal gene mutations.
Bauce B, Rampazzo A, Basso C, Mazzotti E, Rigato I, Steriotis A, Beffagna G, Lorenzon A, De Bortoli M, Pilichou K, Marra MP, Corbetti F, Daliento L, Iliceto S, Corrado D, Thiene G, Nava A., Heart Rhythm 8(11), 2011
PMID: 21723241
The sarcomeric Z-disc and Z-discopathies.
Knöll R, Buyandelger B, Lab M., J Biomed Biotechnol 2011(), 2011
PMID: 22028589

54 References

Daten bereitgestellt von Europe PubMed Central.

Arrhythmogenic right ventricular cardiomyopathy: perspectives on disease.
Norman MW, McKenna WJ., Z Kardiol 88(8), 1999
PMID: 10506390
[Arrhythmogenic right ventricular dysplasia. Study of a selected population]
Nava A, Martini B, Thiene G, Buja GF, Canciani B, Scognamiglio R, Miraglia G, Corrado D, Boffa GM, Daliento L., G Ital Cardiol 18(1), 1988
PMID: 3290027
Arrhythmogenic right ventricular cardiomyopathy/dysplasia.
Thiene G, Corrado D, Basso C., Orphanet J Rare Dis 2(), 2007
PMID: 18001465
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.
Gerull B, Heuser A, Wichter T, Paul M, Basson CT, McDermott DA, Lerman BB, Markowitz SM, Ellinor PT, MacRae CA, Peters S, Grossmann KS, Drenckhahn J, Michely B, Sasse-Klaassen S, Birchmeier W, Dietz R, Breithardt G, Schulze-Bahr E, Thierfelder L., Nat. Genet. 36(11), 2004
PMID: 15489853
Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Awad MM, Calkins H, Judge DP., Nat Clin Pract Cardiovasc Med 5(5), 2008
PMID: 18382419
Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.
Xu T, Yang Z, Vatta M, Rampazzo A, Beffagna G, Pilichou K, Pillichou K, Scherer SE, Saffitz J, Kravitz J, Zareba W, Danieli GA, Lorenzon A, Nava A, Bauce B, Thiene G, Basso C, Calkins H, Gear K, Marcus F, Towbin JA; Multidisciplinary Study of Right Ventricular Dysplasia Investigators., J. Am. Coll. Cardiol. 55(6), 2010
PMID: 20152563
Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
Bauce B, Nava A, Beffagna G, Basso C, Lorenzon A, Smaniotto G, De Bortoli M, Rigato I, Mazzotti E, Steriotis A, Marra MP, Towbin JA, Thiene G, Danieli GA, Rampazzo A., Heart Rhythm 7(1), 2009
PMID: 20129281
The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy.
De Bortoli M, Beffagna G, Bauce B, Lorenzon A, Smaniotto G, Rigato I, Calore M, Li Mura IE, Basso C, Thiene G, Lanfranchi G, Danieli GA, Nava A, Rampazzo A., Eur. J. Hum. Genet. 18(7), 2010
PMID: 20197793
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).
McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, Norman M, Baboonian C, Jeffery S, McKenna WJ., Lancet 355(9221), 2000
PMID: 10902626
Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.
Simpson MA, Mansour S, Ahnood D, Kalidas K, Patton MA, McKenna WJ, Behr ER, Crosby AH., Cardiology 113(1), 2008
PMID: 18957847
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.
Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, Whittock N, Leigh IM, Stevens HP, Kelsell DP., Hum. Mol. Genet. 9(18), 2000
PMID: 11063735
A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair.
Alcalai R, Metzger S, Rosenheck S, Meiner V, Chajek-Shaul T., J. Am. Coll. Cardiol. 42(2), 2003
PMID: 12875771
Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2.
Awad MM, Dalal D, Tichnell C, James C, Tucker A, Abraham T, Spevak PJ, Calkins H, Judge DP., Hum. Mutat. 27(11), 2006
PMID: 17041889
Intermediate filament proteins and their associated diseases.
Omary MB, Coulombe PA, McLean WH., N. Engl. J. Med. 351(20), 2004
PMID: 15537907
Prevalence of desmin mutations in dilated cardiomyopathy.
Taylor MR, Slavov D, Ku L, Di Lenarda A, Sinagra G, Carniel E, Haubold K, Boucek MM, Ferguson D, Graw SL, Zhu X, Cavanaugh J, Sucharov CC, Long CS, Bristow MR, Lavori P, Mestroni L; Familial Cardiomyopathy Registry; BEST (Beta-Blocker Evaluation of Survival Trial) DNA Bank., Circulation 115(10), 2007
PMID: 17325244
Desmin myopathy: a multisystem disorder involving skeletal, cardiac, and smooth muscle.
Ariza A, Coll J, Fernandez-Figueras MT, Lopez MD, Mate JL, Garcia O, Fernandez-Vasalo A, Navas-Palacios JJ., Hum. Pathol. 26(9), 1995
PMID: 7672786
Desmin splice variants causing cardiac and skeletal myopathy.
Park KY, Dalakas MC, Goebel HH, Ferrans VJ, Semino-Mora C, Litvak S, Takeda K, Goldfarb LG., J. Med. Genet. 37(11), 2000
PMID: 11073539
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.
van Tintelen JP, Van Gelder IC, Asimaki A, Suurmeijer AJ, Wiesfeld AC, Jongbloed JD, van den Wijngaard A, Kuks JB, van Spaendonck-Zwarts KY, Notermans N, Boven L, van den Heuvel F, Veenstra-Knol HE, Saffitz JE, Hofstra RM, van den Berg MP., Heart Rhythm 6(11), 2009
PMID: 19879535
A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy.
van der Zwaag PA, Jongbloed JD, van den Berg MP, van der Smagt JJ, Jongbloed R, Bikker H, Hofstra RM, van Tintelen JP., Hum. Mutat. 30(9), 2009
PMID: 19569224
Molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Milting H, Klauke B., Nat Clin Pract Cardiovasc Med 5(10), 2008
PMID: 18813333
Variations in DSG2: V56M, V158G and V920G are not pathogenic for arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Posch MG, Posch MJ, Perrot A, Dietz R, Ozcelik C., Nat Clin Pract Cardiovasc Med 5(12), 2008
PMID: 19039334
A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy.
Posch MG, Posch MJ, Geier C, Erdmann B, Mueller W, Richter A, Ruppert V, Pankuweit S, Maisch B, Perrot A, Buttgereit J, Dietz R, Haverkamp W, Ozcelik C., Mol. Genet. Metab. 95(1-2), 2008
PMID: 18678517
Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease.
Syrris P, Ward D, Asimaki A, Evans A, Sen-Chowdhry S, Hughes SE, McKenna WJ., Eur. Heart J. 28(5), 2006
PMID: 17105751
Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.
Bhuiyan ZA, Jongbloed JD, van der Smagt J, Lombardi PM, Wiesfeld AC, Nelen M, Schouten M, Jongbloed R, Cox MG, van Wolferen M, Rodriguez LM, van Gelder IC, Bikker H, Suurmeijer AJ, van den Berg MP, Mannens MM, Hauer RN, Wilde AA, van Tintelen JP., Circ Cardiovasc Genet 2(5), 2009
PMID: 20031616
Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2.
Syrris P, Ward D, Evans A, Asimaki A, Gandjbakhch E, Sen-Chowdhry S, McKenna WJ., Am. J. Hum. Genet. 79(5), 2006
PMID: 17033975
Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice.
Fressart V, Duthoit G, Donal E, Probst V, Deharo JC, Chevalier P, Klug D, Dubourg O, Delacretaz E, Cosnay P, Scanu P, Extramiana F, Keller D, Hidden-Lucet F, Simon F, Bessirard V, Roux-Buisson N, Hebert JL, Azarine A, Casset-Senon D, Rouzet F, Lecarpentier Y, Fontaine G, Coirault C, Frank R, Hainque B, Charron P., Europace 12(6), 2010
PMID: 20400443
Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy.
van Tintelen JP, Entius MM, Bhuiyan ZA, Jongbloed R, Wiesfeld AC, Wilde AA, van der Smagt J, Boven LG, Mannens MM, van Langen IM, Hofstra RM, Otterspoor LC, Doevendans PA, Rodriguez LM, van Gelder IC, Hauer RN., Circulation 113(13), 2006
PMID: 16567567
Missense variants in plakophilin-2 in arrhythmogenic right ventricular cardiomyopathy patients--disease-causing or innocent bystanders?
Christensen AH, Benn M, Tybjaerg-Hansen A, Haunso S, Svendsen JH., Cardiology 115(2), 2009
PMID: 19955750
Conserved segments 1A and 2B of the intermediate filament dimer: their atomic structures and role in filament assembly.
Strelkov SV, Herrmann H, Geisler N, Wedig T, Zimbelmann R, Aebi U, Burkhard P., EMBO J. 21(6), 2002
PMID: 11889032
Vimentin coil 1A-A molecular switch involved in the initiation of filament elongation.
Meier M, Padilla GP, Herrmann H, Wedig T, Hergt M, Patel TR, Stetefeld J, Aebi U, Burkhard P., J. Mol. Biol. 390(2), 2009
PMID: 19422834
Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2).
Tiso N, Stephan DA, Nava A, Bagattin A, Devaney JM, Stanchi F, Larderet G, Brahmbhatt B, Brown K, Bauce B, Muriago M, Basso C, Thiene G, Danieli GA, Rampazzo A., Hum. Mol. Genet. 10(3), 2001
PMID: 11159936
Composite polymorphisms in the ryanodine receptor 2 gene associated with arrhythmogenic right ventricular cardiomyopathy.
Milting H, Lukas N, Klauke B, Korfer R, Perrot A, Osterziel KJ, Vogt J, Peters S, Thieleczek R, Varsanyi M., Cardiovasc. Res. 71(3), 2006
PMID: 16769042
Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1.
Beffagna G, Occhi G, Nava A, Vitiello L, Ditadi A, Basso C, Bauce B, Carraro G, Thiene G, Towbin JA, Danieli GA, Rampazzo A., Cardiovasc. Res. 65(2), 2005
PMID: 15639475
Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.
Merner ND, Hodgkinson KA, Haywood AF, Connors S, French VM, Drenckhahn JD, Kupprion C, Ramadanova K, Thierfelder L, McKenna W, Gallagher B, Morris-Larkin L, Bassett AS, Parfrey PS, Young TL., Am. J. Hum. Genet. 82(4), 2008
PMID: 18313022
Arrhythmogenic cardiomyopathy: etiology, diagnosis, and treatment.
Sen-Chowdhry S, Morgan RD, Chambers JC, McKenna WJ., Annu. Rev. Med. 61(), 2010
PMID: 20059337
Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
den Haan AD, Tan BY, Zikusoka MN, Llado LI, Jain R, Daly A, Tichnell C, James C, Amat-Alarcon N, Abraham T, Russell SD, Bluemke DA, Calkins H, Dalal D, Judge DP., Circ Cardiovasc Genet 2(5), 2009
PMID: 20031617
Structure of the human desmoplakins. Implications for function in the desmosomal plaque.
Green KJ, Parry DA, Steinert PM, Virata ML, Wagner RM, Angst BD, Nilles LA., J. Biol. Chem. 265(5), 1990
PMID: 1689290
New insights into the molecular basis of desmoplakin- and desmin-related cardiomyopathies.
Lapouge K, Fontao L, Champliaud MF, Jaunin F, Frias MA, Favre B, Paulin D, Green KJ, Borradori L., J. Cell. Sci. 119(Pt 23), 2006
PMID: 17105773
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q.
Melberg A, Oldfors A, Blomstrom-Lundqvist C, Stalberg E, Carlsson B, Larrson E, Lidell C, Eeg-Olofsson KE, Wikstrom G, Henriksson G, Dahl N., Ann. Neurol. 46(5), 1999
PMID: 10970245
Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks.
Otten E, Asimaki A, Maass A, van Langen IM, van der Wal A, de Jonge N, van den Berg MP, Saffitz JE, Wilde AA, Jongbloed JD, van Tintelen JP., Heart Rhythm 7(8), 2010
PMID: 20423733
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
Dalakas MC, Park KY, Semino-Mora C, Lee HS, Sivakumar K, Goldfarb LG., N. Engl. J. Med. 342(11), 2000
PMID: 10717012
Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies.
Bar H, Goudeau B, Walde S, Casteras-Simon M, Mucke N, Shatunov A, Goldberg YP, Clarke C, Holton JL, Eymard B, Katus HA, Fardeau M, Goldfarb L, Vicart P, Herrmann H., Hum. Mutat. 28(4), 2007
PMID: 17221859
Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain.
Vernengo L, Chourbagi O, Panuncio A, Lilienbaum A, Batonnet-Pichon S, Bruston F, Rodrigues-Lima F, Mesa R, Pizzarossa C, Demay L, Richard P, Vicart P, Rodriguez MM., Neuromuscul. Disord. 20(3), 2010
PMID: 20133133
Severe muscle disease-causing desmin mutations interfere with in vitro filament assembly at distinct stages.
Bar H, Mucke N, Kostareva A, Sjoberg G, Aebi U, Herrmann H., Proc. Natl. Acad. Sci. U.S.A. 102(42), 2005
PMID: 16217025
Site-directed mutagenesis by overlap extension using the polymerase chain reaction.
Ho SN, Hunt HD, Horton RM, Pullen JK, Pease LR., Gene 77(1), 1989
PMID: 2744487
Characterization of distinct early assembly units of different intermediate filament proteins.
Herrmann H, Haner M, Brettel M, Ku NO, Aebi U., J. Mol. Biol. 286(5), 1999
PMID: 10064706
Impact of disease mutations on the desmin filament assembly process.
Bar H, Mucke N, Ringler P, Muller SA, Kreplak L, Katus HA, Aebi U, Herrmann H., J. Mol. Biol. 360(5), 2006
PMID: 16828798
Atomic force microscopy of long DNA: imaging in air and under water.
Lyubchenko Y, Shlyakhtenko L, Harrington R, Oden P, Lindsay S., Proc. Natl. Acad. Sci. U.S.A. 90(6), 1993
PMID: 8460119


Markieren/ Markierung löschen
Markierte Publikationen

Open Data PUB

Web of Science

Dieser Datensatz im Web of Science®


PMID: 20829228
PubMed | Europe PMC

Suchen in

Google Scholar