Results 61 to 70 of about 473 (164)

Rare BANF1 Alleles and Relatively Frequent EMD Alleles Including ‘Healthy Lipid’ Emerin p.D149H in the ExAC Cohort

Frontiers in Cell and Developmental Biology, 2019
Emerin (EMD) and barrier to autointegration factor 1 (BANF1) each bind A-type lamins (LMNA) as fundamental components of nuclear lamina structure. Mutations in LMNA, EMD and BANF1 are genetically linked to many tissue-specific disorders including Emery ...
Tejas Dharmaraj, Youchen Guan, Julie Liu, Catherine Badens, Benedicte Gaborit, Katherine L. Wilson   +5 more
doaj   +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

Heterozygous LMNA mutation-carrying iPSC lines from three cardiac laminopathy patients

Stem Cell Research, 2022
LMNA-related dilated cardiomyopathy (LMNA-DCM) is caused by pathogenic variants in the LMNA gene and is characterized by left ventricular chamber enlargement, reduced systolic function, and arrhythmia.
Sangkyun Cho, Chelsea Lee, Celine Lai, Yan Zhuge, Francois Haddad, Michael Fowler, Karim Sallam, Joseph C. Wu   +7 more
doaj   +1 more source

Homozygous and Compound Heterozygous Mutations in ZMPSTE24 Cause the Laminopathy Restrictive Dermopathy

, 2005
Restrictive dermopathy (RD) is a lethal human genetic disorder characterized by very tight, thin, easily eroded skin, rocker bottom feet, and joint contractures.
Gardner, Jennifer M., Moulson, Casey L., Miner, Jeffrey H., Sillevis Smitt, J. Henk, Go, Gloriosa, Henk Sillevis Smitt, J., van Hagen, Johanna M., van der Wal, Allard C.   +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

Clinical and functional characterization of a novel mutation in lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathy [PDF]

, 2015
Mutations in the lamin A/C gene (LMNA) were associated with dilated cardiomyopathy (DCM) and, recently, were related to severe forms of arrhythmogenic right ventricular cardiomyopathy (ARVC).
Rampazzo A, Gerbino A., Simone C., Favale S, Pisani F., Simone C, Calore Martina, Forleo C., Gerbino A, Favale Stefano, Calore M., Valecce R, Rampazzo Alessandra, Svelto M., Sorrentino S., Scardapane A., Procino G., Iacoviello M, Torretta Silvia, Pisani Francesco, Procino G, Forleo C, Carmosino M, Scardapane Arnaldo, Scardapane A, Sorrentino Sandro, Simone Cristiano, Procino Giuseppe, Pisani F, Rampazzo A., Iacoviello M., Valecce R., Svelto Maria, Carmosino Monica, Calore M, Torretta S, SVELTO, MARIA, Resta Nicoletta, Gerbino Andrea, Carmosino M., Sorrentino S, Svelto M, Resta N., Favale S., Iacoviello Massimo, Valecce Rosanna, Resta N, Forleo Cinzia, Torretta S.   +48 more
core   +3 more sources

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

Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment

Cells, 2019
Hutchinson-Gilford progeria syndrome (HGPS) is one of the most severe disorders among laminopathies—a heterogeneous group of genetic diseases with a molecular background based on mutations in the LMNA gene and genes coding for interacting proteins.
Katarzyna Piekarowicz, Magdalena Machowska, Volha Dzianisava, Ryszard Rzepecki   +3 more
doaj   +1 more source

The involvement of thioredoxin-1 in neuronal laminopathy in neurodegeneration

, 2023
Introduction: Progressive loss of neurons is a common cause in pathophysiology of neurodegenerative diseases (ND), although the underlying mechanisms responsible for cell death remains controversial.
Sultana, Shakila
core  

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