| Unraveling Desmin's Head Domain Structure and Function. | Unraveling Desmin's Head Domain Structure and Function.
Vlachakis D, Tsilafakis K, Kostavasili I, Kossida S, Mavroidis M., Free PMC Article | 04/23/2024 |
| Desmin and Plectin Recruitment to the Nucleus and Nuclei Orientation Are Lost in Emery-Dreifuss Muscular Dystrophy Myoblasts Subjected to Mechanical Stimulation. | Desmin and Plectin Recruitment to the Nucleus and Nuclei Orientation Are Lost in Emery-Dreifuss Muscular Dystrophy Myoblasts Subjected to Mechanical Stimulation.
Cenni V, Evangelisti C, Santi S, Sabatelli P, Neri S, Cavallo M, Lattanzi G, Mattioli E., Free PMC Article | 02/9/2024 |
| Critical contribution of mitochondria in the development of cardiomyopathy linked to desmin mutation. | Critical contribution of mitochondria in the development of cardiomyopathy linked to desmin mutation.
Hovhannisyan Y, Li Z, Callon D, Suspène R, Batoumeni V, Canette A, Blanc J, Hocini H, Lefebvre C, El-Jahrani N, Kitsara M, L'honoré A, Kordeli E, Fornes P, Concordet JP, Tachdjian G, Rodriguez AM, Vartanian JP, Béhin A, Wahbi K, Joanne P, Agbulut O., Free PMC Article | 01/5/2024 |
| Desmin and its molecular chaperone, the alphaB-crystallin: How post-translational modifications modulate their functions in heart and skeletal muscles? | Desmin and its molecular chaperone, the αB-crystallin: How post-translational modifications modulate their functions in heart and skeletal muscles?
Claeyssen C, Bulangalire N, Bastide B, Agbulut O, Cieniewski-Bernard C. | 01/3/2024 |
| A Severe Form of Familial Desminopathy Due to a Homozygous Nonsense DES Variant in Two Siblings. | A Severe Form of Familial Desminopathy Due to a Homozygous Nonsense DES Variant in Two Siblings.
Claes L, Schil KV, Dewals W, Beysen D. | 07/12/2023 |
| Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function. | Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function.
Onore ME, Savarese M, Picillo E, Passamano L, Nigro V, Politano L., Free PMC Article | 03/3/2023 |
| The N-Terminal Part of the 1A Domain of Desmin Is a Hot Spot Region for Putative Pathogenic DES Mutations Affecting Filament Assembly. | The N-Terminal Part of the 1A Domain of Desmin Is a Hot Spot Region for Putative Pathogenic DES Mutations Affecting Filament Assembly.
Brodehl A, Holler S, Gummert J, Milting H., Free PMC Article | 12/31/2022 |
| The gene variant for desmin rs1058261 may protect against combined cancer and cardiovascular death, the Tampere adult population cardiovascular risk study. | The gene variant for desmin rs1058261 may protect against combined cancer and cardiovascular death, the Tampere adult population cardiovascular risk study.
Piesanen J, Kunnas T, Nikkari ST., Free PMC Article | 10/15/2022 |
| New roles for desmin in the maintenance of muscle homeostasis. | New roles for desmin in the maintenance of muscle homeostasis.
Agnetti G, Herrmann H, Cohen S. | 05/28/2022 |
| Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction. | Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction.
Abou Ziki MD, Bhat N, Neogi A, Driscoll TP, Ugwu N, Liu Y, Smith E, Abboud JM, Chouairi S, Schwartz MA, Akar JG, Mani A., Free PMC Article | 04/9/2022 |
| The Novel Desmin Variant p.Leu115Ile Is Associated With a Unique Form of Biventricular Arrhythmogenic Cardiomyopathy. | 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. | 11/27/2021 |
| The Desmin (DES) Mutation p.A337P Is Associated with Left-Ventricular Non-Compaction Cardiomyopathy. | The Desmin (DES) Mutation p.A337P Is Associated with Left-Ventricular Non-Compaction Cardiomyopathy.
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., Free PMC Article | 07/31/2021 |
| 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. | 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. | 07/10/2021 |
| Epigenetic downregulation of desmin in gall bladder cancer reveals its potential role in disease progression. | Epigenetic downregulation of desmin in gall bladder cancer reveals its potential role in disease progression.
Bhunia S, Barbhuiya MA, Gupta S, Shrivastava BR, Tiwari PK., Free PMC Article | 05/8/2021 |
| Heterozygous desmin gene (DES) mutation contributes to familial dilated cardiomyopathy. | Heterozygous desmin gene (DES) mutation contributes to familial dilated cardiomyopathy.
Huang YS, Xing YL, Li HW., Free PMC Article | 05/1/2021 |
| Expression patterns of intermediate filament proteins desmin and lamin A in the developing conduction system of early human embryonic hearts. | Expression patterns of intermediate filament proteins desmin and lamin A in the developing conduction system of early human embryonic hearts.
Liu HX, Jing YX, Wang JJ, Yang YP, Wang YX, Li HR, Song L, Li AH, Cui HL, Jing Y., Free PMC Article | 03/13/2021 |
| Desmin and CD31 immunolabeling for detecting venous invasion of the pancreatobiliary tract cancers. | Desmin and CD31 immunolabeling for detecting venous invasion of the pancreatobiliary tract cancers.
Shin J, Wood LD, Hruban RH, Hong SM., Free PMC Article | 01/9/2021 |
| Network-based analysis reveals novel gene signatures in the peripheral blood of patients with sporadic nonsyndromic thoracic aortic aneurysm. | Network-based analysis reveals novel gene signatures in the peripheral blood of patients with sporadic nonsyndromic thoracic aortic aneurysm.
Xu H, Chen S, Zhang H, Zou Y, Zhao J, Yu J, Le S, Cui J, Jiang L, Wu J, Xia J. | 12/19/2020 |
| Coordinated alpha-crystallin B phosphorylation and desmin expression indicate adaptation and deadaptation to resistance exercise-induced loading in human skeletal muscle. | Coordinated alpha-crystallin B phosphorylation and desmin expression indicate adaptation and deadaptation to resistance exercise-induced loading in human skeletal muscle.
Jacko D, Bersiner K, Schulz O, Przyklenk A, Spahiu F, Höhfeld J, Bloch W, Gehlert S. | 10/24/2020 |
| Diagnostic value of BRCA1-associated protein-1, glucose transporter-1 and desmin expression in the discrimination between reactive mesothelial proliferation and malignant mesothelioma in tissues and effusions. | Diagnostic value of BRCA1-associated protein-1, glucose transporter-1 and desmin expression in the discrimination between reactive mesothelial proliferation and malignant mesothelioma in tissues and effusions.
Önder S, Özogul E, Koksal D, Sarinc Ulasli S, Firat P, Emri S. | 08/22/2020 |
| Individual desmin mutations have unique pathological molecular mechanisms partly linked to alteration of redox homeostasis. Integrating these mutant-specific behaviors will be important when considering future therapeutics. | Alterations of redox dynamics and desmin post-translational modifications in skeletal muscle models of desminopathies.
Delort F, Segard BD, Hakibilen C, Bourgois-Rocha F, Cabet E, Vicart P, Huang ME, Clary G, Lilienbaum A, Agbulut O, Batonnet-Pichon S. | 07/4/2020 |
| Data indicate the recessive desmin (DES) variants p.(Leu190Pro) as the likely cause of myopathy with cardiac involvement in two female siblings. | 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., Free PMC Article | 06/20/2020 |
| DES mutations lead to heterogeneous myopathies ranging from Skeletal Muscle Disease to isolated Cardiomyopathy. So far, less than 10 pathogenic variants linked to Arrhythmogenic cardiomyopathies have been identified in DES gene. | Arrhythmogenic cardiomyopathies (ACs): diagnosis, risk stratification and management.
Protonotarios A, Elliott PM. | 06/6/2020 |
| Study identified a heterozygous missense mutation (c.343C>T, p.Leu115Phe) in the desmin (DES) gene as the most likely candidate causal mutation for the development of inherited cardiac conduction disease (CCD). The mutation is novel and is predicted to affect the conformation of the coiled-coil rod domain of DES. | A Novel DES L115F Mutation Identified by Whole Exome Sequencing is Associated with Inherited Cardiac Conduction Disease.
Hsu LA, Ko YS, Yeh YH, Chang CJ, Chan YH, Kuo CT, Tsai HY, Chang GJ., Free PMC Article | 05/2/2020 |
| Genetic analysis revealed a novel small in-frame deletion within the DES gene, p.Q113_L115del, affecting the alpha-helical rod domain. Functional study revealed an abnormal cytoplasmic accumulation of desmin and a degraded sarcomeric structure. Further results suggest that DES:p.Q113_L115del is a pathogenic mutation associated with dilated cardiomyopathy with prominent left ventricular hypertrabeculation. | Noncompaction cardiomyopathy is caused by a novel in-frame desmin (DES) deletion mutation within the 1A coiled-coil rod segment leading to a severe filament assembly defect.
Marakhonov AV, Brodehl A, Myasnikov RP, Sparber PA, Kiseleva AV, Kulikova OV, Meshkov AN, Zharikova AA, Koretsky SN, Kharlap MS, Stanasiuk C, Mershina EA, Sinitsyn VE, Shevchenko AO, Mozheyko NP, Drapkina OM, Boytsov SA, Milting H, Skoblov MY. | 04/4/2020 |