Results 101 to 110 of about 23,382 (212)

Nuclear Envelope, Nuclear Lamina, and Inherited Disease [PDF]

, 2005
The nuclear envelope is composed of the nuclear membranes, nuclear lamina, and nuclear pore complexes. In recent years, mutations in nuclear-envelope proteins have been shown to cause a surprisingly wide array of inherited diseases.
Courvalin, Jean-Claude, Worman, Howard,
core   +4 more sources

SIRT1 Ameliorates Lamin A/C Deficiency-Induced Cardiac Dysfunction by Promoting Mitochondrial Bioenergetics

JACC: Basic to Translational Science
Summary: Dilated cardiomyopathy (DCM) is associated with high mortality despite advanced therapies. The LMNA gene encodes lamin A/C and is the second most frequently mutated gene associated with DCM, for which therapeutic options are limited.
Zunhui Du, MS, Yanting Zhou, MS, Qiheng Li, MS, Yuan Xie, MS, Tingfang Zhu, MS, Jing Qiao, MS, Ruihong Zhang, BS, Yangyang Bao, MD, PhD, Lingjie Wang, MD, PhD, Yinyin Xie, PhD, Jinwei Quan, MS, Menglu Lin, MS, Ning Zhang, MD, PhD, Qi Jin, MD, PhD, Wenbin Liang, MD, PhD, Liqun Wu, MD, PhD, Tong Yin, MD, PhD, Yucai Xie, MD, PhD   +17 more
doaj   +1 more source

High‐dimensional multiomics reveals perturbations to IL‐6/IL‐6R axis and RUNX3 in CD4+ T cells during third‐trimester pregnancy

Clinical &Translational Immunology, Volume 15, Issue 5, 2026.
Abstract Objectives CD4+ T cells play key roles in regulating immune responses during pregnancy; therefore, we aimed to understand the CD4+ T‐cell surface proteome and transcriptome during pregnancy. Methods CD4+ T cells were analysed in blood and decidua from term pregnancies (> 37 weeks) and non‐pregnant blood.
Jennifer R Habel, Thi H O Nguyen, Natasha de Alwis, E Kaitlynn Allen, Shihan Li, Morgan J Skinner, Jennifer A Juno, Stephen J Kent, Katherine Bond, Deborah A Williamson, Martha Lappas, Natalie J Hannan, Susan Walker, Jan Schroeder, Jeremy Chase Crawford, Paul G Thomas, Katherine Kedzierska, Louise C Rowntree   +17 more
wiley   +1 more source

Lamin A/C Haploinsufficiency Modulates the Differentiation Potential of Mouse Embryonic Stem Cells [PDF]

, 2013
BACKGROUND: Lamins are structural proteins that are the major determinants of nuclear architecture and play important roles in various nuclear functions including gene regulation and cell differentiation.
Chaturvedi, P., Kumar, S., Kumaran, R. I., Parnaik, V. K., Sehgal, P.   +4 more
core   +2 more sources

Hepatic Steatosis Resulting From LMNA-Associated Familial Lipodystrophy

ACG Case Reports Journal, 2020
ABSTRACT Nonalcoholic fatty liver disease (NAFLD) is the most prevalent liver disease worldwide, with potential causes stemming from obesity, metabolic syndrome, genetic disorders, and drug toxicity. We report a 42-year-old woman with lipodystrophy and NAFLD due to a pathogenic variant in the LMNA (D300N) gene.
Mahdi, Layth, Kahn, Allon, Dhamija, Radhika, Vargas, Hugo E.   +3 more
openaire   +2 more sources

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

PLoS ONE, 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).
Cinzia Forleo, Monica Carmosino, Nicoletta Resta, Alessandra Rampazzo, Rosanna Valecce, Sandro Sorrentino, Massimo Iacoviello, Francesco Pisani, Giuseppe Procino, Andrea Gerbino, Arnaldo Scardapane, Cristiano Simone, Martina Calore, Silvia Torretta, Maria Svelto, Stefano Favale   +15 more
doaj   +1 more source

Exceptional Longevity Modifying Allele APOE2 Promotes DNA Signaling Pathways Resisting Cellular Senescence in Human Neurons

Aging Cell, Volume 25, Issue 5, May 2026.
Neurons expressing APOE2 were more resistant to endogenous DNA damage, activated transcriptional signaling pathways associated with DNA repair, and were resilient to stress‐induced DNA damage and cellular senescence. In contrast, APOE4 neurons exhibited elevated expression of rRNA repetitive elements and were prone to becoming senescent.
Cristian Gerónimo‐Olvera, Stephen M. Scheeler, Carlos Galicia Aguirre, Genesis Vega‐Hormazabal, Daniela Garcia, Long Wu, Natalia Murad, Kevin Schneider, Kenneth A. Wilson, Nikola T. Markov, Sicheng Song, Jesse Simons, Akos A. Gerencser, Emily Parlan, Sean D. Mooney, Eric Verdin, Judith Campisi, Tara E. Tracy, David Furman, Simon Melov, Lisa M. Ellerby   +20 more
wiley   +1 more source

Nuclear envelope defects cause stem cell dysfunction in premature-aging mice [PDF]

, 2012
et al.Nuclear lamina alterations occur in physiological aging and in premature aging syndromes. Because aging is also associated with abnormal stem cell homeostasis, we hypothesize that nuclear envelope alterations could have an important impact on stem ...
Espada, Jesús, Pendás, Alberto M.
core   +2 more sources

Novel linkage of LMNA Single Nucleotide Polymorphism with Dilated Cardiomyopathy in an Indian case study

International Journal of Cardiology: Heart & Vasculature, 2015
Background: Dilated Cardiomyopathy (DCM) is one of the most commonly encountered heart diseases reported globally. It is characterized by enlarged ventricles with impaired systolic and diastolic functions.
Avinanda Banerjee, Pradip K. Ghoshal, Kaushik Sengupta   +2 more
doaj   +1 more source

The Mitochondrial Guardian α‐Amyrin Mitigates Alzheimer's Disease Pathology via Modulation of the DLK‐SARM1‐ULK1 Axis

Advanced Science, Volume 13, Issue 24, 27 April 2026.
Dietary habits play a key role in chronic diseases, and higher annual consumption of fruit and vegetable may lower risk of dementia. Artificial intelligence predicts the lipid‐like compound α‐Amyrin (αA) from plants with edible peels as a drug candidate against Alzheimer's disease.
Shu‐Qin Cao, Juan Ignacio Jiménez‐Loygorri, Yunguang Qiu, You Jung Kang, Khanh Van Do, Annabel E. Smith, Junjie Huang, Jun‐ping Pan, Lipeng Mao, Ang Li, Hangge Yang, Yahyah Aman, Maria Jose Donate Lagartos, Sofie Hindkjær Lautrup, Anbin Chen, Kristina Xiao Liang, Hailong Zhang, Juan Yi, Xurui Jin, Tin Cho Cheung, Olympia Apokotou, Florentia Papastefanaki, Rebecca Matsas, William A. McEwan, Feixiong Cheng, Hansang Cho, Guobing Chen, Huanxing Su, Konstantinos Palikaras, Oscar Junhong Luo, Qian Hua Zhao, Ding Ding, Cornelia van Duijn, Nektarios Tavernarakis, Patricia Boya, Tewin Tencomnao, Evandro F. Fang   +36 more
wiley   +1 more source