Results 41 to 50 of about 3,036 (198)

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

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 role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation[S]

Journal of Lipid Research, 2009
We investigated the role of LMNA in adipose tissue by developing a novel mouse model of lipodystrophy. Transgenic mice were generated that express the LMNA mutation that causes familial partial lipodystrophy of the Dunnigan type (FPLD2).
Kari M. Wojtanik, Keith Edgemon, Srikant Viswanadha, Brigette Lindsey, Martin Haluzik, Weiping Chen, George Poy, Marc Reitman, Constantine Londos   +8 more
doaj   +1 more source

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

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

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

Mechanical Stress Triggers Premature Senescence in Cardiac Fibroblasts

Advanced Science, Volume 12, Issue 47, December 18, 2025.
Cellular senescence contributes to disease burden in cardiovascular disease (CVD) and aging, highlighting the need to understand its induction. In primary cardiac fibroblasts, reduced strain and increased frequency, mimicking CVD, elicit a distinct senescent phenotype compared to oxidative stress.
Stephanie E. Schneider, Adrienne K. Scott, Katie M. Gallagher, Emily Y. Miller, Soham Ghosh, Corey P. Neu   +5 more
wiley   +1 more source

Active microrheology using pulsed optical tweezers to probe viscoelasticity of Lamin A towards diagnosis of laminopathies [PDF]

, 2021
C. D. Mukherjee, Avijit Kundu, Raunak Dey, Ayan Banerjee, Kaushik Sengupta   +4 more
openalex   +1 more source

Evolving Real‐World Data and Evidence Use for New Drugs and Regenerative Medical Products Approvals in Japan—An Analysis of the 6‐Year Trend

Clinical Pharmacology &Therapeutics, Volume 118, Issue 6, Page 1405-1421, December 2025.
Several regulatory initiatives have been made to clarify the acceptability and requirements of real‐world data and real‐world evidence (RWD/E) for the benefit/risk assessment of new medical products in Japan. The objectives of this review were to characterize the use of RWD/E in regulatory applications of new medical products and to describe the ...
Suguru Okami, Kako Shimotsumagari, Yasunari Sadatsuki   +2 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