Results 111 to 120 of about 33,865 (165)

An Isolated Colonic Neurofibroma Without Systemic Neurofibromatosis: A Rare Case Report and Literature Review. [PDF]

Am J Case Rep
Alessa HA, Yacoubi T, Almutawa A, Alshayeb A, Althunayyan A, Alqarfan A, Alsubaie SM, Alomar S, Aljalal F, Aledreesi A, Abdelgawad W.   +10 more
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Desmin myopathy with cardiomyopathy

Acta Neuropathologica, 1995
We report a case of abnormal desmin accumulation within the muscle of a 30-year-old female with a 2-year history of cardiomyopathy and axial muscle weakness. Serum creatine kinase was normal. A quadriceps muscle biopsy revealed pink hyaline inclusions, which stained for acid phosphatase and with PAS and were present in both fibre types.
C H, Cameron, M, Mirakhur, I V, Allen
openaire   +2 more sources

Desmin-related myopathy

Clinical Genetics, 2010
Desmin-related myopathy (DRM) is an autosomally inherited skeletal and cardiac myopathy, mainly caused by dominant mutations in the desmin gene (DES). We provide (i) a literature review on DRM, including clinical manifestations, inheritance, molecular genetics, myopathology and management and (ii) a meta-analysis of reported DES mutation carriers ...
van Spaendonck-Zwarts, K. Y., van Hessem, L., Jongbloed, J. D. H., de Walle, H. E. K., Capetanaki, Y., van der Kooi, A. J., van Langen, I. M., van den Berg, M. P., van Tintelen, J. P.   +8 more
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Desmin Interacts Directly with Mitochondria [PDF]

International Journal of Molecular Sciences, 2020
Desmin intermediate filaments (IFs) play an important role in maintaining the structural and functional integrity of muscle cells. They connect contractile myofibrils to plasma membrane, nuclei, and mitochondria. Disturbance of their network due to desmin mutations or deficiency leads to an infringement of myofibril organization and to a deterioration ...
Alexey K Surin, Alexander A Minin, Surin Alexey K   +2 more
exaly   +3 more sources

Desmin phosphorylation abnormalities in cytoplasmic body and desmin-related myopathies

Muscle & Nerve, 1999
Cytoplasmic body myopathy (CBM) and desmin-related myopathy (DRM) are both characterized by an abnormal accumulation of desmin. To determine whether these abnormalities involve similar or different forms of desmin, we performed desmin two-dimensional electrophoresis: our results showed an increase in the two acidic isoforms in CBM muscles as compared ...
A, Caron, F, Chapon
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Interference of amino‐terminal desmin fragments with desmin filament formation

Cell Motility, 2009
AbstractShort polypeptides from intermediate filament (IF) proteins containing one of the two IF‐consensus motifs interfere severely with filament assembly in vitro. We now have systematically investigated a series of larger fragments of the muscle‐specific IF protein desmin representing entire functional domains such as coil1 or coil 2.
Bär, Harald, Sharma, Sarika, Kleiner, Helga, Mücke, Norbert, Zentgraf, Hanswalter, Katus, Hugo A., Aebi, Ueli, Herrmann, Harald   +7 more
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Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects [PDF]

European Journal of Heart Failure, 2006
Abstract Background Primary desminopathies are caused by desmin gene [DES (MIM*125660)] mutations. The clinical spectrum includes pure myopathies, cardiomuscular diseases and cardiomyopathies.
Maurizia Grasso, Stefano C Previtali, Carlo Campana   +2 more
exaly   +4 more sources

Dehydration of desmine

Bulletin of the Academy of Sciences of the USSR Division of Chemical Science, 1987
1. A new mechanism is proposed for the dehydration of desmine, according to which dissociation of some of the water molecules coordinated with the calcium cations occurs to form hydroxyls after a certain stage. 2. It has been established that the processes of hydroxyl formation and dehydroxylation are the reasons for the irreversible ...
J. I. Mirzai, F. A. Gashimov, A. A. Pribylov, V. V. Serpinskii, Kh. S. Mamedov   +4 more
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