Results 31 to 40 of about 3,734 (156)

Extracts Prepared from a Canadian Toxic Plant Induce Light-Dependent Perinuclear Vacuoles in Human Cells

Toxins, 2021
We are investigating plant species from the Canadian prairie ecological zone by phenotypic cell assays to discover toxins of biological interest. We provide the first report of the effects of extracts prepared from the shrub Symphoricarpos occidentalis ...
Jan M. Tuescher, Chad R. Beck, Locke Spencer, Benjamin Yeremy, Yutong Shi, Raymond J. Andersen, Roy M. Golsteyn   +6 more
doaj   +1 more source

Cardiac involvement in laminopathies – short invited review [PDF]

, 2015
Mutations in lamins, which are ubiquitous nuclear intermediate filaments, lead to a variety of disorders, described as laminopathies or nuclear envelopathies, that include both X-linked and autosomal dominant forms of Emery-Dreifuss muscular dystrophy ...
Nicola Carboni, Marchel, Michal, Hausmanowa-Petrusiewicz, Irena, NIGRO, Gerardo, Madej-Pilarczyk, Agnieszka, Palladino, Alberto, Carboni, Nicola, Gerardo Nigro, Marchel, Michał, Hausmanowa Petrusewicz, Irena, Luisa Politano, Madej Pilarczyk, Agnieszka, Michal Marchel, Alberto Palladino, Agnieszka Madej-Pilarczyk, Grzegorz Opolski, POLITANO, Luisa, Irena Hausmanowa-Petrusewicz, Opolski, Grzegorz   +18 more
core   +2 more sources

Functional characterization of LINC complex protein assemblies and their role in laminopathies [PDF]

, 2013
LINC (Linker of nucleoskeleton and cytoskeleton) complexes connect the nucleoskeleton to the cytoskeleton by interactions among LINC complex proteins and their interactions to proteins in the nucleus and the cytosol.
Yang, Liu
core   +1 more source

Preclinical Advances of Therapies for Laminopathies

, 2021
International audienceLaminopathies are a group of rare disorders due to mutation in LMNA gene. Depending on the mutation, they may affect striated muscles, adipose tissues, nerves or are multisystemic with various accelerated ageing syndromes.
Benarroch, Louise, Bertrand, Anne, T, Rabah Ben Yaou, Antonio Atalaia, Cohen, Enzo, Louise Benarroch, Bertrand, Anne,, Gisèle Bonne, Anne T Bertrand, Enzo Cohen, Bonne, Gisèle, Atalaia, Antonio, Ben Yaou, Rabah   +12 more
core   +1 more source

Genetic and Pathophysiological Basis of Cardiac and Skeletal Muscle Laminopathies [PDF]

Genes
Girish C Melkani
exaly   +2 more sources

Molecular genetic studies in hereditary laminopathies of man [PDF]

, 2010
The present study was aimed at associating further genes to selected types of laminopathies applying a functional candidate gene approach. Additionally, genotype/phenotype correlations in defined laminopathies were investigated to extend the clinical ...
Le, Thi Thanh Huong
core   +1 more source

Nuclear lamins: Structure and function in mechanobiology

APL Bioengineering, 2022
Nuclear lamins are type V intermediate filament proteins that polymerize into complex filamentous meshworks at the nuclear periphery and in less structured forms throughout the nucleoplasm.
Amir Vahabikashi, Stephen A. Adam, Ohad Medalia, Robert D. Goldman   +3 more
doaj   +1 more source

Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary

Cells, 2022
Mutations in genes encoding proteins associated with the linker of nucleoskeleton and cytoskeleton (LINC) complex within the nuclear envelope cause different diseases with varying phenotypes including skeletal muscle, cardiac, metabolic, or nervous ...
Emily C. Storey, Heidi R. Fuller
doaj   +1 more source

Emerging perspectives on laminopathies

, 2016
Laminopathies are a group of inherited disorders caused by mutations in the lamin A/C gene, and can affect diverse organs or tissues, or can be systemic, causing premature aging.
Benedetti, Sara, D’Apice, Maria Rosaria, Scarano, Emanuela, Carboni, Nicola, POLITANO, Luisa, Lattanzi, Giovanna, Maggi, Lorenzo   +6 more
core   +1 more source

Chd4 and ThPOK cooperate to preserve structural and electrophysiological integrity of the adult heart through Sprr1a repression

The FEBS Journal, EarlyView.
Chd4/NuRD and ThPOK cooperate to maintain transcriptional repression and nuclear organization in adult cardiomyocytes. Chd4 loss reduces miR‐150‐5p, relieving repression of Sprr1a, while ThPOK loss further enhances Sprr1a activation, possibly through altered chromatin–lamina interactions.
Fadoua El Abdellaoui‐Soussi, Apolonia Novillo, Rocío Brea, Marta Ysbert, Lorena Cussó, Gonzalo Pizarro‐Sánchez, Manuel Desco, Iván Hernández, Ángel Luis Armesilla, Ignacio Pérez de Castro, Alicia R. Folgueras, Juan Miguel Redondo, Pablo Gómez‐del Arco   +12 more
wiley   +1 more source