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Items: 1 to 20 of 90

1.
Skeletal muscle desmin alterations following revascularization in peripheral artery disease claudicants
Dylan Wilburn, Dimitrios Miserlis, Emma Fletcher, Evlampia Papoutsi, Ahmed Ismaeel, Cassandra Bradley, Andrew Ring, Trevor Wilkinson, Robert S. Smith, Lucas Ferrer, Gleb Haynatzki, Peter Monteleone, Subhash Banerjee, Elizabeth Brisbois, William T. Bohannon, Panagiotis Koutakis
Sci Rep. 2024; 14: 12609. Published online 2024 Jun 1. doi: 10.1038/s41598-024-63626-3
PMCID:
PMC11144188
AbstractArticlePDF–1.9M
2.
Unraveling Desmin’s Head Domain Structure and Function
Dimitrios Vlachakis, Konstantinos Tsilafakis, Ioanna Kostavasili, Sophia Kossida, Manolis Mavroidis
Cells. 2024 Apr; 13(7): 603. Published online 2024 Mar 29. doi: 10.3390/cells13070603
PMCID:
PMC11012097
AbstractArticlePDF–7.2M
3.
Critical contribution of mitochondria in the development of cardiomyopathy linked to desmin mutation
Yeranuhi Hovhannisyan, Zhenlin Li, Domitille Callon, Rodolphe Suspène, Vivien Batoumeni, Alexis Canette, Jocelyne Blanc, Hakim Hocini, Cécile Lefebvre, Nora El-Jahrani, Maria Kitsara, Aurore L’honoré, Ekaterini Kordeli, Paul Fornes, Jean-Paul Concordet, Gérard Tachdjian, Anne-Marie Rodriguez, Jean-Pierre Vartanian, Anthony Béhin, Karim Wahbi, Pierre Joanne, Onnik Agbulut
Stem Cell Res Ther. 2024; 15: 10. Published online 2024 Jan 2. doi: 10.1186/s13287-023-03619-7
PMCID:
PMC10763022
AbstractArticlePDF–13M
4.
Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function
Maria Elena Onore, Marco Savarese, Esther Picillo, Luigia Passamano, Vincenzo Nigro, Luisa Politano
Int J Mol Sci. 2022 Dec; 23(24): 15906. Published online 2022 Dec 14. doi: 10.3390/ijms232415906
PMCID:
PMC9785402
AbstractArticlePDF–1.4M
5.
The N-Terminal Part of the 1A Domain of Desmin Is a Hot Spot Region for Putative Pathogenic DES Mutations Affecting Filament Assembly
Andreas Brodehl, Stephanie Holler, Jan Gummert, Hendrik Milting
Cells. 2022 Dec; 11(23): 3906. Published online 2022 Dec 2. doi: 10.3390/cells11233906
PMCID:
PMC9738904
AbstractArticlePDF–14M
6.
The gene variant for desmin rs1058261 may protect against combined cancer and cardiovascular death, the Tampere adult population cardiovascular risk study
Jaakko Piesanen, Tarja Kunnas, Seppo T Nikkari
Medicine (Baltimore) 2022 Oct 7; 101(40): e31005. Published online 2022 Oct 7. doi: 10.1097/MD.0000000000031005
PMCID:
PMC9542836
AbstractArticlePDF–456K
7.
Heterozygous desmin gene (DES) mutation contributes to familial dilated cardiomyopathy
Ying-shuo Huang, Yun-li Xing, Hong-wei Li
J Int Med Res. 2021 Apr; 49(4): 03000605211006598. Published online 2021 Apr 6. doi: 10.1177/03000605211006598
PMCID:
PMC8033466
AbstractArticlePDF–679K
8.
The Desmin (DES) Mutation p.A337P Is Associated with Left-Ventricular Non-Compaction Cardiomyopathy
Olga Kulikova, Andreas Brodehl, Anna Kiseleva, Roman Myasnikov, Alexey Meshkov, Caroline Stanasiuk, Anna Gärtner, Mikhail Divashuk, Evgeniia Sotnikova, Sergey Koretskiy, Maria Kharlap, Viktoria Kozlova, Elena Mershina, Polina Pilus, Valentin Sinitsyn, Hendrik Milting, Sergey Boytsov, Oxana Drapkina
Genes (Basel) 2021 Jan; 12(1): 121. Published online 2021 Jan 19. doi: 10.3390/genes12010121
PMCID:
PMC7835827
AbstractArticlePDF–1.8M
9.
Epigenetic downregulation of desmin in gall bladder cancer reveals its potential role in disease progression
Shushruta Bhunia, Mustafa Ahmed Barbhuiya, Sanjiv Gupta, Braj Raj Shrivastava, Pramod Kumar Tiwari
Indian J Med Res. 2020 Apr; 151(4): 311–318. doi: 10.4103/ijmr.IJMR_501_18
PMCID:
PMC7371065
AbstractArticlePDF–1.1M
10.
A Novel DES L115F Mutation Identified by Whole Exome Sequencing is Associated with Inherited Cardiac Conduction Disease
Lung-An Hsu, Yu-Shien Ko, Yung-Hsin Yeh, Chi-Jen Chang, Yi-Hsin Chan, Chi-Tai Kuo, Hsin-Yi Tsai, Gwo-Jyh Chang
Int J Mol Sci. 2019 Dec; 20(24): 6227. Published online 2019 Dec 10. doi: 10.3390/ijms20246227
PMCID:
PMC6940838
AbstractArticlePDF–3.6M
11.
Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin
Lisa G. Riley, Leigh B. Waddell, Roula Ghaoui, Frances J. Evesson, Beryl B. Cummings, Samantha J. Bryen, Himanshu Joshi, Min-Xia Wang, Susan Brammah, Leonard Kritharides, Alastair Corbett, Daniel G. MacArthur, Sandra T. Cooper
Eur J Hum Genet. 2019 Aug; 27(8): 1267–1273. Published online 2019 Apr 25. doi: 10.1038/s41431-019-0393-6
PMCID:
PMC6777463
AbstractArticlePDF–5.9M
12.
Desmin forms toxic, seeding-competent amyloid aggregates that persist in muscle fibers
Niraja Kedia, Khalid Arhzaouy, Sara K. Pittman, Yuanzi Sun, Mark Batchelor, Conrad C. Weihl, Jan Bieschke
Proc Natl Acad Sci U S A. 2019 Aug 20; 116(34): 16835–16840. Published online 2019 Aug 1. doi: 10.1073/pnas.1908263116
PMCID:
PMC6708308
AbstractArticlePDF–1.4M
13.
Mutation in the Core Structure of Desmin Intermediate Filaments Affects Myoblast Elasticity
Catherine Even, Gilles Abramovici, Florence Delort, Anna F. Rigato, Virginie Bailleux, Abel de Sousa Moreira, Patrick Vicart, Felix Rico, Sabrina Batonnet-Pichon, Fatma Briki
Biophys J. 2017 Aug 8; 113(3): 627–636. Published online 2017 Aug 8. doi: 10.1016/j.bpj.2017.06.020
PMCID:
PMC5549644
AbstractArticlePDF–1.2M
14.
Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene
Montse Olivé, Judith Armstrong, Francesc Miralles, Adolf Pou, Michel Fardeau, Laura Gonzalez, Francesca Martínez, Dirk Fischer, Juan Antonio Martínez Matos, Alexey Shatunov, Lev Goldfarb, Isidre Ferrer
Neuromuscul Disord. Author manuscript; available in PMC 2016 Nov 29.
Published in final edited form as: Neuromuscul Disord. 2007 Jun; 17(6): 443–450. Published online 2007 Apr 5. doi: 10.1016/j.nmd.2007.02.009
PMCID:
PMC5127195
AbstractArticlePDF–1.4M
15.
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
Panagiotis Koutakis, Dimitrios Miserlis, Sara A. Myers, Julian Kyung-Soo Kim, Zhen Zhu, Evlampia Papoutsi, Stanley A. Swanson, Gleb Haynatzki, Duy M. Ha, Lauren A. Carpenter, Rodney D. McComb, Jason M. Johanning, George P. Casale, Iraklis I. Pipinos
J Histochem Cytochem. 2015 Apr; 63(4): 256–269. doi: 10.1369/0022155415569348
PMCID:
PMC4374059
AbstractArticlePDF–1.3M
16.
Two Desmin Gene Mutations Associated with Myofibrillar Myopathies in Polish Families
Jakub Piotr Fichna, Justyna Karolczak, Anna Potulska-Chromik, Przemyslaw Miszta, Mariusz Berdynski, Agata Sikorska, Slawomir Filipek, Maria Jolanta Redowicz, Anna Kaminska, Cezary Zekanowski
PLoS One. 2014; 9(12): e115470. Published online 2014 Dec 26. doi: 10.1371/journal.pone.0115470
PMCID:
PMC4277352
AbstractArticlePDF–1.3M
17.
Desmin Mutations and Arrhythmogenic Right Ventricular Cardiomyopathy
Alessandra Lorenzon, Giorgia Beffagna, Barbara Bauce, Marzia De Bortoli, Ilena E.A. Li Mura, Martina Calore, Emanuela Dazzo, Cristina Basso, Andrea Nava, Gaetano Thiene, Alessandra Rampazzo
Am J Cardiol. 2013 Feb 1; 111(3): 400–405. doi: 10.1016/j.amjcard.2012.10.017
PMCID:
PMC3554957
AbstractArticle
18.
Clinical and Myopathological Characteristics of Desminopathy Caused by a Mutation in Desmin Tail Domain
Paul Maddison, Maxwell S. Damian, Caroline Sewry, Catherine McGorrian, John B. Winer, Zagaa Odgerel, Alexey Shatunov, Hee Suk. Lee, Lev G. Goldfarb
Eur Neurol. Author manuscript; available in PMC 2013 Oct 5.
Published in final edited form as: Eur Neurol. 2012; 68(5): 279–286. Published online 2012 Oct 5. doi: 10.1159/000341617
PMCID:
PMC3551980
AbstractArticlePDF–1.4M
19.
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation
Carola Hedberg, Atle Melberg, Angelika Kuhl, Dieter Jenne, Anders Oldfors
Eur J Hum Genet. 2012 Sep; 20(9): 984–985. Published online 2012 Mar 7. doi: 10.1038/ejhg.2012.39
PMCID:
PMC3421124
AbstractArticlePDF–124K
20.
Dual Color Photoactivation Localization Microscopy of Cardiomyopathy-associated Desmin Mutants
Andreas Brodehl, Per Niklas Hedde, Mareike Dieding, Azra Fatima, Volker Walhorn, Susan Gayda, Tomo Šarić, Bärbel Klauke, Jan Gummert, Dario Anselmetti, Mike Heilemann, Gerd Ulrich Nienhaus, Hendrik Milting
J Biol Chem. 2012 May 4; 287(19): 16047–16057. Published online 2012 Mar 8. doi: 10.1074/jbc.M111.313841
PMCID:
PMC3346104
AbstractArticlePDF–2.2M

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