Results 111 to 120 of about 5,061 (213)

Genetic cardiomyopathy mimicking isolated cardiac sarcoidosis: Diagnostic challenges with positron emission tomography

open access: yes
ESC Heart Failure, Volume 12, Issue 3, Page 2347-2352, June 2025.
Daigo Nishijo   +19 more
wiley   +1 more source

LMNA‐related muscular dystrophy presenting as an inflammatory myopathy

open access: yesAnnals of the Child Neurology Society
Introduction There are overlapping features between inflammatory myopathies and muscular dystrophies, particularly laminopathies. Key features that characterize laminopathies include axial and proximal weakness, contractures, and cardiac abnormalities ...
Alexandra Santana Almansa   +7 more
doaj   +1 more source

Nuclear damages and oxidative stress: new perspectives for laminopathies

open access: yesEuropean Journal of Histochemistry, 2012
Mutations in genes encoding nuclear envelope proteins, particularly LMNA encoding the A-type lamins, cause a broad range of diverse diseases, referred to as laminopathies.
G. Lattanzi   +3 more
doaj   +1 more source

Selection of specific and efficient siRNAs in new cellular model for Hutchinson-Gilford progeria syndrome therapy

open access: yesMolecular Therapy: Nucleic Acids
Hutchinson-Gilford progeria syndrome is a fatal genetic disorder caused by a point mutation in the gene encoding the nuclear envelope protein lamin A/C.
Volha Dzianisava   +3 more
doaj   +1 more source

From lamins to lamina: a structural perspective [PDF]

open access: yes, 2018
Lamin proteins are the major constituents of the nuclear lamina, a proteinaceous network that lines the inner nuclear membrane. Primarily, the nuclear lamina provides structural support for the nucleus and the nuclear envelope; however, lamins and their ...
Medalia, Ohad, Zwerger, Monika
core  

Recherche de l'expression de la lamine A et de la progérine chez des patients avec un syndrome myélodysplasique/syndrome myéloprolifératif avec thrombocytose [PDF]

open access: yes, 2012
Les syndromes myélodysplasiques (SMD) et myéloprolifératifs (SMP) sont des maladies qui touchent les cellules souches de la moelle hématopoïétique.
Wuthrich, H.
core  

Three-Dimensional Human iPSC-Derived Artificial Skeletal Muscles Model Muscular Dystrophies and Enable Multilineage Tissue Engineering [PDF]

open access: yes, 2018
Generating human skeletal muscle models is instrumental for investigating muscle pathology and therapy. Here, we report the generation of three-dimensional (3D) artificial skeletal muscle tissue from human pluripotent stem cells, including induced ...
Cappellari, O   +21 more
core  

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