Results 61 to 70 of about 14,545 (178)

Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy. [PDF]

PLoS ONE, 2015
This study aimed to analyze the correlation between the phenotype and genotype of Chinese patients with early-onset lamin A (LMNA)-related muscular dystrophy (MD).
Dandan Tan, Haipo Yang, Yun Yuan, Carsten Bonnemann, Xingzhi Chang, Shuang Wang, Yuchen Wu, Xiru Wu, Hui Xiong   +8 more
doaj   +1 more source

Heat Stress Triggers Nuclear Invagination and Spatial Compartmentalization of Protein Metabolism

Cell Proliferation, Volume 59, Issue 8, August 2026.
Cells adapt heat stress to shape a nuclear invagination region function as “protein metabolism hotspots”, where both protein production and degradation are enhanced. ABSTRACT Heat stress is a common challenge for cells, causing multiple types of cellular damage while triggering complex stress responses, including the highly conserved mechanism known as
Zhi‐Hao Zhang, Yuan‐Tao Qiu, Jing‐Yue Cao, Yi‐Feng Huang, Ye‐Lin Lan, Yu‐Li Zhao, Fu Wu, Chen‐Long Wang, Guo‐Run Tang, Jing‐Yun Ji, Zhang Zhang, Guan‐Zheng Luo   +11 more
wiley   +1 more source

Autosomal-Recessive LMNA Dilated Cardiomyopathy

JACC: Case Reports
Variants in the LMNA gene (which encodes intermediate filaments lamin A and lamin C) result in a variety of phenotypes that include overlapping features, such as progeroid syndromes, muscular dystrophies, peripheral neuropathies, lipodystrophies, and cardiac disease (including dilated cardiomyopathy and conduction disorders).We describe a case of ...
Sterner, Rosalie M., Coon, Lea M., Black, John L., Moyer, Ann M., Maleszewski, Joseph J., Baudhuin, Linnea M.   +5 more
openaire   +3 more sources

Artery‐on‐Chip Demonstrates Mechanical and Functional Features of Healthy and Diseased Living Smooth Muscle Tissue

Advanced Functional Materials, Volume 36, Issue 59, 23 July 2026.
This article details the development of an artery‐on‐chip platform for in vitro arterial disease modeling and therapeutic discovery. It describes the fabrication of a fibrin biomaterial scaffold seeded with iPSC‐derived smooth muscle and endothelial cells, mimicking native artery properties. Two genetic disease models showcase the platform's ability to
Danielle Yarbrough, Roy Chen, Katerina Katsouleas, Jaron Shoemaker, Travis Brady, Tianfang Yu, Jennifer Arthur Ataam, Connor Amelung, Lakshmi Santhanam, Ioannis Karakikes, Sharon Gerecht   +10 more
wiley   +1 more source

Targeting Mitochondria Dysfunction in LMNA Cardiomyopathy

JACC: Basic to Translational Science
[Figure: see text] [Figure: see text]
Chia-Feng Liu, W.H. Wilson Tang
openaire   +2 more sources

Dupuytren’s and Ledderhose Diseases in a Family with LMNA-Related Cardiomyopathy and a Novel Variant in the ASTE1 Gene

Cells, 2017
Dupuytren’s disease (palmar fibromatosis) involves nodules in fascia of the hand that leads to flexion contractures. Ledderhose disease (plantar fibromatosis) is similar with nodules of the foot.
Michael V. Zaragoza, Cecilia H. H. Nguyen, Halida P. Widyastuti, Linda A. McCarthy, Anna Grosberg   +4 more
doaj   +1 more source

Multiscale Architecture and Mechanics of the Cell Nucleus: Implications for Disease, Bioengineering and Nanomedicine

Advanced Science, Volume 13, Issue 37, 3 July 2026.
Nuclear mechanical properties are inherently scale‐dependent, arising from a hierarchical architecture that spans DNA, chromatin, the nuclear envelope, and condensates. Experimental techniques and theoretical models are integrated into a cohesive multiscale framework linking nanoscale structural features to organelle‐level mechanical behavior.
Xinran Liu, Xin Chen, Qingyang Zhao, Weikang Tan, Lingrui Zhu, Kin Liao, Vincent Chan, Nicolae Goga, Winfred O. Larkotey, Yang Li, Yinghui Shi, Wenya Shu, Lin Wang, Weiqing Wang, Tian Jian Lu, Yulong Han   +15 more
wiley   +1 more source

Establishment of a homozygous LMNA knock-out human induced pluripotent stem cell line using CRISPR/Cas9 system

Stem Cell Research
The LMNA gene encodes lamin A/C, essential components of the nuclear envelope that play crucial roles in maintaining nuclear architecture, mechanotransduction, and gene regulation.
So Hee Park, David Suh, Hyoeun Kim, Ru-Ri Lee, Isabella Leite Coscarella, Jaewon Oh, Sangwoo Kim, Hyoung-Pyo Kim, Chulan Kwon, Chan Joo Lee, Sahng Wook Park, Seunghyun Lee   +11 more
doaj   +1 more source

Impact of Dupilumab and Upadacitinib Treatment on Epigenetic and Transcriptomic Alterations in Skin‐Homing T Cells of Atopic Dermatitis Patients

Clinical &Experimental Allergy, EarlyView.
Ahmed M. I. Elfiky, Hidde M. Smits, Marlot van der Wal, Coco Dekkers, Celeste M. Boesjes, Julia Drylewicz, Marjolein de Bruin‐Weller, Femke van Wijk   +7 more
wiley   +1 more source

Nuclear dysfunction in aging and neurodegeneration

Alzheimer's &Dementia, Volume 22, Issue 7, July 2026.
Abstract Neurodegenerative diseases are characterized by a loss of neuronal function and structure, often in a region‐specific manner. Multiple factors contribute to neuronal dysfunction and death, including pathogenic protein buildup, protein mislocalization, and inflammation. Despite extensive research, the common mechanisms driving neurodegeneration
Abbigael Aday, Jack Tiller, Adarsh Melukote, Zachary C. Walton, Anna King, Luke Castillo, Rakez Kayed, Mauro Montalbano   +7 more
wiley   +1 more source