Results 51 to 60 of about 5,061 (213)

Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice

Cells, 2020
Variants in LMNA, encoding A-type lamins, are responsible for laminopathies including muscular dystrophies, lipodystrophies, and progeroid syndromes. Cardiovascular laminopathic involvement is classically described as cardiomyopathy in striated muscle ...
Héléna Mosbah, Camille Vatier, Franck Boccara, Isabelle Jéru, Olivier Lascols, Marie-Christine Vantyghem, Bruno Fève, Bruno Donadille, Elisabeth Sarrazin, Sophie Benabbou, Jocelyn Inamo, Stéphane Ederhy, Ariel Cohen, Barbara Neraud, Pascale Richard, Fabien Picard, Sophie Christin-Maitre, Alban Redheuil, Karim Wahbi, Corinne Vigouroux   +19 more
doaj   +1 more source

Dynamic expression of lamin B1 during adult neurogenesis in the vertebrate brain

Developmental Dynamics, Volume 255, Issue 2, Page 187-208, February 2026.
Abstract Background In mammals, specific brain regions such as the dentate gyrus (DG) of the hippocampus and the subventricular zone (SVZ) of the lateral ventricles harbor adult neural stem/progenitor cells (ANSPCs) that give rise to new neurons and contribute to structural and functional brain plasticity.
Diana Zhilina, Lizbeth A. Bolaños Castro, Juan Sebastian Eguiguren, Sara Zocher, Anne Karasinsky, Dimitri Widmer, Alexandre Espinós, Victor Borrell, Michael Brand, Kyoko Miura, Oliver Zierau, Maximina H. Yun, Tomohisa Toda   +12 more
wiley   +1 more source

Disruption of Nuclear‐Cytoskeletal Linkage by Coil‐1a LMNA Mutations in Emery–Dreifuss Muscular Dystrophy

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 1, February 2026.
ABSTRACT Background Emery–Dreifuss muscular dystrophy (EDMD) is a progressive genetic myopathy that mainly affects the muscles used for movement (skeletal muscles) and the heart (cardiac muscles). The disease is frequently associated with mutations in genes encoding nuclear envelope proteins, most notably LMNA, which encodes lamin A—a critical ...
So‐mi Kang, Ran Kim, Tae‐Gyun Woo, Soyoung Park, Yeongseon Ji, Ha Eun Kim, Yu Jin Jeong, Jeongmo Kim, Yeonhee Kim, Woochul Chang, Bae‐Hoon Kim, Bum‐Joon Park   +11 more
wiley   +1 more source

Diversity of Nuclear Lamin A/C Action as a Key to Tissue-Specific Regulation of Cellular Identity in Health and Disease

Frontiers in Cell and Developmental Biology, 2021
A-type lamins are the main structural components of the nucleus, which are mainly localized at the nucleus periphery. First of all, A-type lamins, together with B-type lamins and proteins of the inner nuclear membrane, form a stiff structure—the nuclear ...
Anna Malashicheva, Kseniya Perepelina
doaj   +1 more source

Nuclear envelope laminopathies: evidence for developmentally inappropriate chromatin-nuclear envelope interactions [PDF]

, 2013
During terminal differentiation of cells, there is typically a transition of the nuclear envelope from the Lamin B protein to Lamin A/C proteins.
Eric Hoffman, Jelena Perovanovic, Jyoti Jaswal, Nikola Markovic   +3 more
core   +2 more sources

Multilevel analysis of nuclear dynamics in lamin perturbed fibroblasts [PDF]

, 2010
The nuclear lamina provides structural support to the nucleus and has a central role in defining nuclear organization. Defects in its filamentous constituents, the lamins, lead to a class of diseases collectively referred to as laminopathies.
Broers, Jos, De Vos, Winnok, Hoebe, Ron A, Houben, Frederik, Joss, Greg, Manders, Erik, Ramaekers, Frans, Van Oostveldt, Patric   +7 more
core  

Modeling Treatment Response for Lamin A/C Related Dilated Cardiomyopathy in Human Induced Pluripotent Stem Cells. [PDF]

, 2017
published_or_final_versio
Cai, Z, Lai, KWH, Lau, VYM, Lee, YK, Ng, KM, Siu, DCW, Tse, HF, Wong, LY   +7 more
core   +1 more source

Informing Dose for Pediatric Rare Diseases—A Survey of Recent Orphan Drugs Approvals

Clinical and Translational Science, Volume 19, Issue 2, February 2026.
ABSTRACT Collectively, pediatric rare diseases affect millions of children worldwide. Yet, treatment options are limited. Dose selection presents unique challenges in pediatric rare disease drug development. Traditional dose‐finding approaches are impractical for these populations, and conventional pediatric dosing methods like exposure matching face ...
Elimika Pfuma Fletcher, Chloe Kim, Hannah Mei, Bilal AbuAsal, Sherbet Samuels, Rajanikanth Madabushi, Anuradha Ramamoorthy   +6 more
wiley   +1 more source

The fat‐heart entanglement and the role of ‘osteopontin mechanics’ in cardiometabolic senescence

European Journal of Clinical Investigation, Volume 56, Issue 1, January 2026.
Abstract Background Residual cardiovascular (CV) risk persists despite therapeutic advances. Obesity is heterogeneous, and visceral adipose tissue (VAT) dysfunction (‘adiposopathy’) complicates risk stratification. Osteopontin (OPN) is a pleiotropic mediator implicated in VAT inflammation, senescence‐associated pathways, atherosclerosis and myocardial ...
Cristina Michelauz, Fabrizio Montecucco, Luca Liberale, Federico Carbone   +3 more
wiley   +1 more source

Induced Pluripotent Stem Cells to Study Mechanisms of Laminopathies: Focus on Epigenetics

Frontiers in Cell and Developmental Biology, 2018
Laminopathies are a group of rare degenerative disorders that manifest with a wide spectrum of clinical phenotypes, including both systemic multi-organ disorders, such as the Hutchinson-Gilford Progeria Syndrome (HGPS), and tissue-restricted diseases ...
Silvia Crasto, Silvia Crasto, Elisa Di Pasquale, Elisa Di Pasquale   +3 more
doaj   +1 more source