Results 151 to 160 of about 57,573 (289)

Desmin [PDF]

, 2017
S. Holdenrieder, P. Stieber
openaire   +1 more source

Orphan disease: features of difficult to diagnose and genetically verified muscular dystrophy based on DNA sequencing results (clinical case)

Acta Biomedica Scientifica
Currently, orphan diseases are rarely diagnosed due to low patient awareness, heterogeneity of symptoms, low publication activity of specialists who may encounter orphan pathology, and limited availability of molecular genetic technologies for verifying ...
Yu. I. Kotsenko
doaj   +1 more source

Acute Reduction of Desmin Intermediate Filaments Alters Myocyte Mechanics and Excitation-Contraction Coupling [PDF]

, 2017
Julie Heffler, Matthew A. Capporizzo, Alexey Bogush, Patrick Robison, Benjamin L. Prosser   +4 more
openalex   +1 more source

Desmin and its molecular chaperone, the αB-crystallin: How post-translational modifications modulate their functions in heart and skeletal muscles?

, 2023
Charlotte Claeyssen, Nathan Bulangalire, Bruno Bastide, Onnik Agbulut, Caroline Cieniewski‐Bernard   +4 more
openalex   +2 more sources

Immunohistochemical analysis of development of desmin‐positive hepatic stellate cells in mouse liver [PDF]

, 2000
Miho Nitou, Katsutoshi Ishikawa, Nobuyoshi Shiojiri   +2 more
openalex   +1 more source

Assessment of myogenic potency in patient-derived fibroblasts with c.1289-2A>G Desmin mutation

Türk Biyokimya Dergisi
The ultra-rare DES c.1289-2A>G mutation, resulting in a 48-base pair insertion in the Desmin tail domain, is associated with late-onset MFM1 (myofibrillar myopathy-1; OMIM number; 601419) and exhibits distinctive pathological features.
Düz Nilüfer, Ünsal Şeyda, Eerdem-Özdamar Sevim, Dinçer Pervin   +3 more
doaj   +1 more source

Type of desmin expression in cardiomyocytes – a good marker of heart failure development in idiopathic dilated cardiomyopathy [PDF]

, 2012
Agnieszka Pawlak, Robert Gil, Tomasz Kulawik, Maciej Pronicki, Agnieszka Karkucińska‐Więckowska, Tamara Szymańska-Dębińska, Katarzyna Gil, N. Lagwinski, E. Czarnowska   +8 more
openalex   +1 more source

AAV9-mediated SMN gene therapy rescues cardiac desmin but not lamin A/C and elastin dysregulation in Smn 2B/− spinal muscular atrophy mice [PDF]

, 2023
Sharon J. Brown, Darija Šoltić, Silvia A. Synowsky, Sally L. Shirran, Ellie Chilcott, Hannah K. Shorrock, Thomas H. Gillingwater, Rafael J. Yáñez‐Muñoz, Bernard L. Schneider, Mélissa Bowerman, Heidi R. Fuller   +10 more
openalex   +1 more source

Purification of Smooth‐Muscle Desmin and a Protein‐Chemical Comparison of Desmins from Chicken Gizzard and Hog Stomach [PDF]

, 1980
Norbert Geisler, Klaus Weber
openalex   +1 more source

Myotubularine et desmine [PDF]

médecine/sciences, 2011
Karim Hnia, Jocelyn Laporte
openaire   +1 more source