Results 211 to 220 of about 2,917 (255)

Atrial standstill phenomenon in non-dilated cardiomyopathy phenotype of genetically confirmed laminopathy

Klaudia Męcka, Paweł Bańka, Bartosz Gruchlik, Piotr Kukla, Katarzyna Mizia­‐Stec   +4 more
openalex   +2 more sources

Aging research from bench to bedside and beyond: What we learned from Sammy Basso. [PDF]

Aging Cell
Lattanzi G, Lanzuolo C, Cugudda E, Maggi L, Politano L, Santiago-Fernández O, Ricci G, Squarzoni S, Lopez-Otin C, Italian Network for Laminopathies.   +9 more
europepmc   +1 more source

Clinical and metabolic consequences of a historic pathogenic lamin A/C founder variant. [PDF]

Sci Rep
Wong LY, Torfs T, Vanherle SJV, Janssen J, Claes GRF, Stroeks SLVM, Willemars MMA, Schianchi F, Kapsokalyvas D, Weltjens E, Swinnen A, Strzelecka A, Krapels IPC, Heymans SRB, Glatz J, van den Wijngaard A, Brunner HG, Broers J, Luiken JFP, Hoes MF, Verdonschot JAJ, Nabben M.   +21 more
europepmc   +1 more source

Molecular mechanisms of laminopathies

, 2005
openaire   +2 more sources

Post-COVID Myocarditis in Patients with Primary Cardiomyopathies: Diagnosis, Clinical Course and Outcomes. [PDF]

Genes (Basel)
Blagova O, Lutokhina Y, Kogan E, Savina P, Aleksandrova S, Zaklyazminskaya E.   +5 more
europepmc   +1 more source

Familial laminopathy: one gene, two proteins, three distinct scenarios of atrial manifestation of a cardiomyopathy phenotype associated with a novel lamin A/C gene (LMNA) mutation. A case series

T.G. Vaikhanskaya, T. T. Gevorkyan, O.D. Levdansky   +2 more
openalex   +1 more source

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Laminopathies

The Journal of Pathology, 2004
AbstractNuclear lamins form a fibrous nucleoskeletal network of intermediate‐sized filaments that underlies the inner nuclear membrane. It associates with this membrane through interactions with specific integral nuclear membrane proteins, while within this flattened lamin lattice the nuclear pore complexes are embedded. Next to this peripheral network,
Jos L V, Broers, Chris J, Hutchison, Frans C S, Ramaekers   +2 more
openaire   +3 more sources

Molecular Pathology of Laminopathies

Annual Review of Pathology: Mechanisms of Disease, 2022
The nuclear envelope is composed of the nuclear membranes, nuclear lamina, and nuclear pore complexes. Laminopathies are diseases caused by mutations in genes encoding protein components of the lamina and these other nuclear envelope substructures. Mutations in the single gene encoding lamin A and C, which are expressed in most differentiated somatic ...
Ji-Yeon, Shin, Howard J, Worman
openaire   +2 more sources

Laminopathies

2012
The laminopathies are a group of rare diseases characterized by a vast range of phenotypic alterations, due to mutations in lamin A and C or other nuclear envelope proteins. A-type lamins, as well as B-type lamins, belong to the type V intermediate filaments and, by polymerization, form the nuclear lamina, a component of the nuclear envelope. Following
Nadir M Maraldi, Giovanna Lattanzi
openaire   +3 more sources

Alzheimer's disease: An acquired neurodegenerative laminopathy [PDF]

Nucleus, 2016
The nucleus is typically depicted as a sphere encircled by a smooth surface of nuclear envelope. For most cell types, this depiction is accurate. In other cell types and in some pathological conditions, however, the smooth nuclear exterior is interrupted by tubular invaginations of the nuclear envelope, often referred to as a "nucleoplasmic reticulum,"
Bess Frost
exaly   +3 more sources