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Select item 110120971.

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

Article PDF–7.2M

Select item 107630222.

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

Article PDF–13M

Select item 97854023.

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

Article PDF–1.4M

Select item 97389044.

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

Article PDF–14M

Select item 95428365.

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

Article PDF–456K

Select item 80334666.

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

Article PDF–679K

Select item 78358277.

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

Article PDF–1.8M

Select item 73710658.

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

Article PDF–1.1M

Select item 69408389.

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

Article PDF–3.6M

Select item 677746310.

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

Article PDF–5.9M

Select item 670830811.

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

Article PDF–1.4M

Select item 554964412.

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

Article PDF–1.2M

Select item 512719513.

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

Article PDF–1.4M

Select item 437405914.

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

Article PDF–1.3M

Select item 427735215.

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

Article PDF–1.3M

Select item 355495716.

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

Article

Select item 355198017.

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

Article PDF–1.4M

Select item 342112418.

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

Article PDF–124K

Select item 334610419.

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

Article PDF–2.2M

Select item 319734820.

Patrick M. McLendon, Jeffrey Robbins

Am J Physiol Heart Circ Physiol. 2011 Oct; 301(4): H1220–H1228. Published online 2011 Jul 22. doi: 10.1152/ajpheart.00601.2011

PMCID:: PMC3197348

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