BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

205 related articles for article (PubMed ID: 33290826)

  • 1. The Novel Desmin Variant p.Leu115Ile Is Associated With a Unique Form of Biventricular Arrhythmogenic Cardiomyopathy.
    Protonotarios A; Brodehl A; Asimaki A; Jager J; Quinn E; Stanasiuk C; Ratnavadivel S; Futema M; Akhtar MM; Gossios TD; Ashworth M; Savvatis K; Walhorn V; Anselmetti D; Elliott PM; Syrris P; Milting H; Lopes LR
    Can J Cardiol; 2021 Jun; 37(6):857-866. PubMed ID: 33290826
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 2018 Apr; 137(15):1595-1610. PubMed ID: 29212896
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 2010 Aug; 7(8):1058-64. PubMed ID: 20423733
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 2013 Dec; 6(6):615-23. PubMed ID: 24200904
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Myocardial fibrosis in arrhythmogenic cardiomyopathy: a genotype-phenotype correlation study.
    Segura-Rodríguez D; Bermúdez-Jiménez FJ; Carriel V; López-Fernández S; González-Molina M; Oyonarte Ramírez JM; Fernández-Navarro L; García-Roa MD; Cabrerizo EM; Durand-Herrera D; Alaminos M; Campos A; Macías R; Álvarez M; Tercedor L; Jiménez-Jáimez J
    Eur Heart J Cardiovasc Imaging; 2020 Apr; 21(4):378-386. PubMed ID: 31702781
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Phenotype and Clinical Outcomes in Desmin-Related Arrhythmogenic Cardiomyopathy.
    Bermudez-Jimenez FJ; Protonotarios A; García-Hernández S; Pérez Asensio A; Rampazzo A; Zorio E; Brodehl A; Arias MA; Macías-Ruiz R; Fernández-Armenta J; Remior Perez P; Muñoz-Esparza C; Pilichou K; Bauce B; Merino JL; Moliner-Abós C; Ochoa JP; Barriales-Villa R; Garcia-Pavia P; Lopes LR; Syrris P; Corrado D; Elliott PM; McKenna WJ; Jimenez-Jaimez J
    JACC Clin Electrophysiol; 2024 Jun; 10(6):1178-1190. PubMed ID: 38727660
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Functional characterization of novel alpha-helical rod domain desmin (DES) pathogenic variants associated with dilated cardiomyopathy, atrioventricular block and a risk for sudden cardiac death.
    Fischer B; Dittmann S; Brodehl A; Unger A; Stallmeyer B; Paul M; Seebohm G; Kayser A; Peischard S; Linke WA; Milting H; Schulze-Bahr E
    Int J Cardiol; 2021 Apr; 329():167-174. PubMed ID: 33373648
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 2013 Feb; 111(3):400-5. PubMed ID: 23168288
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect.
    Brodehl A; Dieding M; Biere N; Unger A; Klauke B; Walhorn V; Gummert J; Schulz U; Linke WA; Gerull B; Vorgert M; Anselmetti D; Milting H
    J Mol Cell Cardiol; 2016 Feb; 91():207-14. PubMed ID: 26724190
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin.
    Riley LG; Waddell LB; Ghaoui R; Evesson FJ; Cummings BB; Bryen SJ; Joshi H; Wang MX; Brammah S; Kritharides L; Corbett A; MacArthur DG; Cooper ST
    Eur J Hum Genet; 2019 Aug; 27(8):1267-1273. PubMed ID: 31024060
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; Schulz U; Zu Knyphausen E; Vorgerd M; Gummert J; Milting H
    Hum Mol Genet; 2010 Dec; 19(23):4595-607. PubMed ID: 20829228
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct From Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy.
    Smith ED; Lakdawala NK; Papoutsidakis N; Aubert G; Mazzanti A; McCanta AC; Agarwal PP; Arscott P; Dellefave-Castillo LM; Vorovich EE; Nutakki K; Wilsbacher LD; Priori SG; Jacoby DL; McNally EM; Helms AS
    Circulation; 2020 Jun; 141(23):1872-1884. PubMed ID: 32372669
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 2009 Nov; 6(11):1574-83. PubMed ID: 19879535
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression.
    Sen-Chowdhry S; Syrris P; Ward D; Asimaki A; Sevdalis E; McKenna WJ
    Circulation; 2007 Apr; 115(13):1710-20. PubMed ID: 17372169
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Dual Functional States of R406W-Desmin Assembly Complexes Cause Cardiomyopathy With Severe Intercalated Disc Derangement in Humans and in Knock-In Mice.
    Herrmann H; Cabet E; Chevalier NR; Moosmann J; Schultheis D; Haas J; Schowalter M; Berwanger C; Weyerer V; Agaimy A; Meder B; Müller OJ; Katus HA; Schlötzer-Schrehardt U; Vicart P; Ferreiro A; Dittrich S; Clemen CS; Lilienbaum A; Schröder R
    Circulation; 2020 Dec; 142(22):2155-2171. PubMed ID: 33023321
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The Desmin (
    Kulikova O; Brodehl A; Kiseleva A; Myasnikov R; Meshkov A; Stanasiuk C; Gärtner A; Divashuk M; Sotnikova E; Koretskiy S; Kharlap M; Kozlova V; Mershina E; Pilus P; Sinitsyn V; Milting H; Boytsov S; Drapkina O
    Genes (Basel); 2021 Jan; 12(1):. PubMed ID: 33478057
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The toxic effect of R350P mutant desmin in striated muscle of man and mouse.
    Clemen CS; Stöckigt F; Strucksberg KH; Chevessier F; Winter L; Schütz J; Bauer R; Thorweihe JM; Wenzel D; Schlötzer-Schrehardt U; Rasche V; Krsmanovic P; Katus HA; Rottbauer W; Just S; Müller OJ; Friedrich O; Meyer R; Herrmann H; Schrickel JW; Schröder R
    Acta Neuropathol; 2015 Feb; 129(2):297-315. PubMed ID: 25394388
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Arrhythmogenic cardiomyopathy.
    Pilichou K; Thiene G; Bauce B; Rigato I; Lazzarini E; Migliore F; Perazzolo Marra M; Rizzo S; Zorzi A; Daliento L; Corrado D; Basso C
    Orphanet J Rare Dis; 2016 Apr; 11():33. PubMed ID: 27038780
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy.
    Schirmer I; Dieding M; Klauke B; Brodehl A; Gaertner-Rommel A; Walhorn V; Gummert J; Schulz U; Paluszkiewicz L; Anselmetti D; Milting H
    Mol Genet Genomic Med; 2018 Mar; 6(2):288-293. PubMed ID: 29274115
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathy.
    Harada H; Hayashi T; Nishi H; Kusaba K; Koga Y; Koga Y; Nonaka I; Kimura A
    J Hum Genet; 2018 Feb; 63(2):249-254. PubMed ID: 29167554
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.