| 1 | DES, LGMD2R
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| Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathy.
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| Harada H, Hayashi T, Nishi H, Kusaba K, Koga Y, Koga Y, Nonaka I, Kimura A.
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| J Hum Genet 63(2):249-254. doi: 10.1038/s10038-017-0383-x. Epub 2017 Nov 22.
2018
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| 2 | DES
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| Mutation in the Core Structure of Desmin Intermediate Filaments Affects Myoblast Elasticity.
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| Even C, Abramovici G, Delort F, Rigato AF, Bailleux V, de Sousa Moreira A, Vicart P, Rico F, Batonnet-Pichon S, Briki F.
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| Biophys J 113(3):627-636. doi: 10.1016/j.bpj.2017.06.020.
2017
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| 3 | CDK1, DES
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| Desmin phosphorylation by Cdk1 is required for efficient separation of desmin intermediate filaments in mitosis and detected in murine embryonic/newborn muscle and human rhabdomyosarcoma tissues.
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| Makihara H, Inaba H, Enomoto A, Tanaka H, Tomono Y, Ushida K, Goto M, Kurita K, Nishida Y, Kasahara K, Goto H, Inagaki M.
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| Biochem Biophys Res Commun 478(3):1323-9. doi: 10.1016/j.bbrc.2016.08.122. Epub 2016 Aug 23.
2016
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| 4 | DES
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| Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue.
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| Winter L, Wittig I, Peeva V, Eggers B, Heidler J, Chevessier F, Kley RA, Barkovits K, Strecker V, Berwanger C, Herrmann H, Marcus K, Kornblum C, Kunz WS, Schröder R, Clemen CS.
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| Acta Neuropathol 132(3):453-73. doi: 10.1007/s00401-016-1592-7. Epub 2016 Jul 8.
2016
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| 5 | DES
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| Abnormal accumulation of desmin in gastrocnemius myofibers of patients with peripheral artery disease: associations with altered myofiber morphology and density, mitochondrial dysfunction and impaired limb function.
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| Koutakis P, Miserlis D, Myers SA, Kim JK, Zhu Z, Papoutsi E, Swanson SA, Haynatzki G, Ha DM, Carpenter LA, McComb RD, Johanning JM, Casale GP, Pipinos II.
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| J Histochem Cytochem 63(4):256-69. doi: 10.1369/0022155415569348. Epub 2015 Jan 9.
2015
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| 6 | DES, DESM
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| Two desmin gene mutations associated with myofibrillar myopathies in Polish families.
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| Fichna JP, Karolczak J, Potulska-Chromik A, Miszta P, Berdynski M, Sikorska A, Filipek S, Redowicz MJ, Kaminska A, Zekanowski C.
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| PLoS One 9(12):e115470. doi: 10.1371/journal.pone.0115470. eCollection 2014.
2014
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| 7 | ANXA2, DES, IGFBP7, MYH7
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| Pilot study identifying myosin heavy chain 7, desmin, insulin-like growth factor 7, and annexin A2 as circulating biomarkers of human heart failure.
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| Chugh S, Ouzounian M, Lu Z, Mohamed S, Li W, Bousette N, Liu PP, Gramolini AO.
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| Proteomics 13(15):2324-34. doi: 10.1002/pmic.201200455. Epub 2013 Jul 1.
2013
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| 8 | DES, LGMD2R
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| A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.
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| Cetin N, Balci-Hayta B, Gundesli H, Korkusuz P, Purali N, Talim B, Tan E, Selcen D, Erdem-Ozdamar S, Dincer P.
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| J Med Genet 50(7):437-43. doi: 10.1136/jmedgenet-2012-101487. Epub 2013 May 18.
2013
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| 9 | DES, NEB
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| Nebulin binding impedes mutant desmin filament assembly.
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| Baker LK, Gillis DC, Sharma S, Ambrus A, Herrmann H, Conover GM.
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| Mol Biol Cell 24(12):1918-32. doi: 10.1091/mbc.E12-11-0840. Epub 2013 Apr 24.
2013
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| 10 | CMYA5, DES
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| Μyospryn: a multifunctional desmin-associated protein.
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| Tsoupri E, Capetanaki Y.
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| Histochem Cell Biol. Jul;140(1):55-63. doi: 10.1007/s00418-013-1103-z. Epub 2013 Jun 9. 2013
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| 11 | DES, DESM
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| Clinical and Myopathological Characteristics of Desminopathy Caused by a Mutation in Desmin Tail Domain.
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| Maddison P, Damian MS, Sewry C, McGorrian C, Winer JB, Odgerel Z, Shatunov A, Lee HS, Goldfarb LG.
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| Eur Neurol 68(5):279-286. [Epub ahead of print]
2012
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| 12 | DES, DESM
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| A novel heterozygous deletion-insertion mutation in the desmin gene causes complete atrioventricular block and mild myopathy.
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| Cao L, Hong D, Zhu M, Li X, Wan H, Hong K.
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| Clin Neuropathol lin Neuropathol. 2012 Oct 5. [Epub ahead of print]
2012
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| 13 | DES, DESM
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| Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.
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| Hedberg C, Melberg A, Kuhl A, Jenne D, Oldfors A.
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| Eur J Hum Genet 20(9):984-5. doi: 10.1038/ejhg.2012.39. Epub 2012 Mar 7.
2012
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| 14 | DES, DESM
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| Biomechanical characterization of a desminopathy in primary human myoblasts.
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| Bonakdar N, Luczak J, Lautscham L, Czonstke M, Koch TM, Mainka A, Jungbauer T, Goldmann WH, Schröder R, Fabry B.
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| Biochem Biophys Res Commun 419(4):703-7. Epub 2012 Feb 21.
2012
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| 15 | DES
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| Preserved cardiomyocyte function and altered desmin pattern in transgenic mouse model of dilated cardiomyopathy.
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| Mackiewicz U, Czarnowska E, Brudek M, Pająk B, Duda M, Emanuel K, Csanyi G, Fedorowicz A, Grochal E, Tyrankiewicz U, Skórka T, Mende U, Lewartowski B, Chłopicki S.
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| J Mol Cell Cardiol 52(5):978-87. Epub 2012 Jan 17.
2012
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| 16 | DES, FBXO32, MSTN, VIM
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| Identification of atrogin-1-targeted proteins during the myostatin-induced skeletal muscle wasting.
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| Lokireddy S, Wijesoma IW, Sze SK, McFarlane C, Kambadur R, Sharma M.
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| Am J Physiol Cell Physiol 303(5):C512-29. doi: 10.1152/ajpcell.00402.2011. Epub 2012 Jun 6.
2012
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| 17 | ANKRD1, DES
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| Loss of desmin triggers mechanosensitivity and up-regulation of Ankrd1 expression through Akt-NF-κB signaling pathway in smooth muscle cells.
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| Mohamed JS, Boriek AM.
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| FASEB J 26(2):757-65. doi: 10.1096/fj.10-160291. Epub 2011 Nov 15.
2012
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| 18 | CKM, CMD1I, DES, SRF
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| Muscle creatine kinase deficiency triggers both actin depolymerization and desmin disorganization by advanced glycation end products in dilated cardiomyopathy.
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| Diguet N, Mallat Y, Ladouce R, Clodic G, Prola A, Tritsch E, Blanc J, Larcher JC, Delcayre C, Samuel JL, Friguet B, Bolbach G, Li Z, Mericskay M.
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| J Biol Chem 286(40):35007-19. Epub 2011 Jul 17. 2011
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| 19 | DES
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| Desmin expression in colorectal cancer stroma correlates with advanced stage disease and marks angiogenic microvessels.
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| Arentz G, Chataway T, Price TJ, Izwan Z, Hardi G, Cummins AG, Hardingham JE.
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| Clin Proteomics 8(1):16.
2011
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| 20 | DES, NEB
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| The desmin coil 1B mutation K190A impairs nebulin Z-disc assembly and destabilizes actin thin filaments.
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| Conover GM, Gregorio CC.
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| J Cell Sci 124(Pt 20):3464-76. doi: 10.1242/jcs.087080. Epub 2011 Oct 7.
2011
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| 21 | DES
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| Desmin regulates airway smooth muscle hypertrophy through early growth-responsive protein-1 and microRNA-26a.
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| Mohamed JS, Hajira A, Li Z, Paulin D, Boriek AM.
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| J Biol Chem 286(50):43394-404. Epub 2011 Sep 7.
2011
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| 22 | DES
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| Immunohistochemical distribution of desmin in the human fetal heart.
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| Yamamoto M, Abe S, Rodríguez-Vázquez JF, Fujimiya M, Murakami G, Ide Y.
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| J Anat 219(2):253-8. doi: 10.1111/j.1469-7580.2011.01382.x. Epub 2011 Apr 18. Erratum in: J Anat. 2011 Oct;219(4):548-9.
2011
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| 23 | DES
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| Plectin interacts with the rod domain of type III intermediate filament proteins desmin and vimentin.
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| Favre B, Schneider Y, Lingasamy P, Bouameur JE, Begré N, Gontier Y, Steiner-Champliaud MF, Frias MA, Borradori L, Fontao L.
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| Eur J Cell Biol 90(5):390-400. Epub 2011 Feb 5.
2011
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| 24 | DES, MTM1
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| Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.
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| Hnia K, Tronchère H, Tomczak KK, Amoasii L, Schultz P, Beggs AH, Payrastre B, Mandel JL, Laporte J.
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| J Clin Invest 121(1):70-85. doi: 10.1172/JCI44021. Epub 2010 Dec 6.
2011
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| 25 | DES, DESM
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| De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.
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| 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.
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| Hum Mol Genet 19(23):4595-607. Epub 2010 Sep 9.
2010
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| 26 | DES, DESM
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| Autophagy in desmin-related cardiomyopathy: Thoughts at the halfway point.
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| Maloyan A, Robbins J.
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| Autophagy 6(5). [Epub ahead of print]
2010
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| 27 | DES, DESM
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| Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy.
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| Levin J, Bulst S, Thirion C, Schmidt F, Bötzel K, Krause S, Pertl C, Kretzschmar H, Walter MC, Giese A, Lochmüller H.
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| J Neuropathol Exp Neurol 69(4):415-24.
2010
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| 28 | DES
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| Interference of amino-terminal desmin fragments with desmin filament formation.
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| Bär H, Sharma S, Kleiner H, Mücke N, Zentgraf H, Katus HA, Aebi U, Herrmann H.
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| Cell Motil Cytoskeleton 66(11):986-99.
2009
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| 29 | CRYAB, DES
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| Intermediate filament diseases: desminopathy.
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| Goldfarb LG, Olivé M, Vicart P, Goebel HH.
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| Adv Exp Med Biol 642:131-64.
2008
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| 30 | CMD1I, DES
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| Prevalence of desmin mutations in dilated cardiomyopathy.
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| 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.
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| Circulation 115(10):1244-51. Epub 2007 Feb 26. 2007
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| 31 | CMYA5, DES
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| Proper perinuclear localization of the TRIM-like protein myospryn requires its binding partner desmin.
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| Kouloumenta A, Mavroidis M, Capetanaki Y.
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| J Biol Chem 282(48):35211-21. Epub 2007 Sep 14. 2007
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| 32 | DES, RCM2
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| Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation.
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| Pruszczyk P, Kostera-Pruszczyk A, Shatunov A, Goudeau B, Dramiñska A, Takeda K, Sambuughin N, Vicart P, Strelkov SV, Goldfarb LG, Kamiñska A.
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| Int J Cardiol 117(2):244-53. Epub 2006 Aug 4. 2007
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| 33 | DES, SCPNK
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| Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.
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| Walter MC, Reilich P, Huebner A, Fischer D, Schröder R, Vorgerd M, Kress W, Born C, Schoser BG, Krause KH, Klutzny U, Bulst S, Frey JR, Lochmüller H.
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| Brain 130(Pt 6):1485-96. Epub 2007 Apr 17.
2007
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| 34 | DES, SPEG
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| The human desmin locus: gene organization and LCR-mediated transcriptional control.
|
| Tam JL, Triantaphyllopoulos K, Todd H, Raguz S, de Wit T, Morgan JE, Partridge TA, Makrinou E, Grosveld F, Antoniou M.
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| Genomics 87(6):733-46. Epub 2006 Mar 20. 2006
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| 35 | DES
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| Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.
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| Goudeau B, Rodrigues-Lima F, Fischer D, Casteras-Simon M, Sambuughin N, de Visser M, Laforet P, Ferrer X, Chapon F, Sjoberg G, Kostareva A, Sejersen T, Dalakas MC, Goldfarb LG, Vicart P.
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| Hum Mutat 27(9):906-13. 2006
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| 36 | DES
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| Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro.
|
| Bar H, Fischer D, Goudeau B, Kley RA, Clemen CS, Vicart P, Herrmann H, Vorgerd M, Schroder R.
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| Hum Mol Genet 14(10):1251-60. Epub 2005 Mar 30. 2005
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| 37 | DES
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| Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy.
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| Kaminska A, Strelkov SV, Goudeau B, Olive M, Dagvadorj A, Fidzianska A, Simon-Casteras M, Shatunov A, Dalakas MC, Ferrer I, Kwiecinski H, Vicart P, Goldfarb LG.
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| Hum Genet 114(3):306-13. Epub 2003 Nov 27. 2004
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| 38 | DES
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| On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria
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| Schroder R, Goudeau B, Simon MC, Fischer D, Eggermann T, Clemen CS, Li Z, Reimann J, Xue Z, Rudnik-Schoneborn S, Zerres K, van der Ven PF, Furst DO, Kunz WS, Vicart P.
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| Hum Mol Genet 12(6):657-69. 2003
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| 39 | DES
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| Desmin cytoskeleton: a potential regulator of muscle mitochondrial behavior and function.
|
| Capetanaki Y.
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| Trends Cardiovasc Med 12(8):339-48. Review. 2002
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| 40 | CRYAB, DES, DESM
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| Structural and functional analysis of a new desmin variant causing desmin-related myopathy.
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| Goudeau B, Dagvadorj A, Rodrigues-Lima F, Nedellec P, Casteras-Simon M, Perret E, Langlois S, Goldfarb L, Vicart P.
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| Hum Mutat 18(5):388-96. 2001
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| 41 | DES, RCM2
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| Clinical and molecular studies of a large family with desmin-associated restrictive cardiomyopathy.
|
| Zhang J, Kumar A, Stalker HJ, Virdi G, Ferrans VJ, Horiba K, Fricker FJ, Wallace MR.
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| Clin Genet 59(4):248-56.
2001
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| 42 | DES, DESM
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| 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.
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| N Engl J Med 342(11):770-80. 2000
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| 43 | DES, DESM
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| Linkage of hereditary distal myopathy with desmin accumulation to 2q.
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| Saavedra-Matiz CA, Chapman NH, Wijsman EM, Horowitz SH, Rosen DR.
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| Hum Hered 50(3):166-70. 2000
|
| 44 | DES, DESM
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| Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation.
|
| Park KY, Dalakas MC, Semino-Mora C, Lee HS, Litvak S, Takeda K, Ferrans VJ, Goldfarb LG.
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| Clin Genet 57(6):423-9. 2000
|
| 45 | DES
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| Desmin splice variants causing cardiac and skeletal myopathy.
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| Park KY, Dalakas MC, Goebel HH, Ferrans VJ, Semino-Mora C, Litvak S, Takeda K, Goldfarb LG.
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| J Med Genet 37(11):851-7. 2000
|
| 46 | DES, DESM
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| A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation.
|
| Sjoberg G, et al.
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| Hum Mol Genet 8(12):2191-2198 1999
|
| 47 | DES, CMD1I
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| Desmin mutation responsible for idiopathic dilated cardiomyopathy.
|
| Li D, Tapscoft T, Gonzalez O, Burch PE, Quinones MA, Zoghbi WA, Hill R, Bachinski LL, Mann DL, Roberts R.
|
| Circulation 100(5):461-4 1999
|
| 48 | DES, DESM
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| Missense mutations in desmin associated with familial cardiac and skeletal myopathy.
|
| Goldfarb LV, et al.
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| Nat Genet 19 : 402-403. 1998
|
| 49 | DES, DESM
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| A dysfunctional desmin mutation in a patient with severe generalized myopathy.
|
| Munoz-Marmol AM, et al.
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| Proc Natl Acad Sci U S A 95 : 11312-11317. 1998
|
| 50 | DES
|
| Null mutation in the desmin gene gives rise to a cardiomyopathy.
|
| Thornell L, Carlsson L, Li Z, Mericskay M, Paulin D.
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| J Mol Cell Cardiol 29(8):2107-24. 1997
|
| 51 | DES
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| Human desmin gene : cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy.
|
| Vicart P, et al.
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| Hum Genet 98 : 422-429. 1996
|
| 52 | DES, DESM
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| Desmin myopathy : a multisystem disorder involving skeletal, cardiac, and smooth muscle.
|
| Ariza A, et al.
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| Hum Pathol 26 : 1032-1037. 1995
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| 53 | VIL1, DES
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| EcoRV RFLP of the desmin (DES) gene and MspI RFLP of the villin (VIL1) gene on human chromosome 2.
|
| Shaw MA, et al.
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| Hum Mol Genet 1 : 448. 1992
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| 54 | DES
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| Assignment of human desmin gene to band 2q35 by nonradioactive in situ hybridization.
|
| Viegas-Pequignot E, Li ZL, Dutrillaux B, Apiou F, Paulin D.
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| Hum Genet 83 : 33-36. 1989
|
| 55 | DES
|
| The human desmin and vimentin genes are located on different chromosomes.
|
| Quax W, et al.
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| Gene 38 : 189-196. 1985
|
| 56 | DES
|
| Desmin gene, DES, is assigned to human chromosome 2.
|
| Quax W, et al.
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| (HGM8) Cytogenet Cell Genet 40 : 727. 1985
|
| 57 | DES
|
| An unusual familial cardiomyopathy characterized by aberrant accumulation of desmin-type intermediate filaments.
|
| Stoeckel ME, et al.
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| Virchows Arch (A) 393 : 53-60. 1981
|
| 58 | DES
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| Unusual familial cardiomyopathy with storage of intermediate filaments in the cardiac muscular cells.
|
| Porte A, et al.
|
| Virchows Arch (A) 386 : 43-58. 1980
|