Results 101 to 110 of about 3,472 (172)

Apoptosis assay in LMNA transfected HL-1 cells.

, 2015
(A) Representative XY confocal planar projections of LMNA transfected cells (green) labelled with EthD-1 (red) in control conditions are depicted. (B) Quantitative analysis of apoptotic cells in control and under hyperosmotic (Hyper), hypoxic (Hypoxia ...
Alessandra Rampazzo (38334), Arnaldo Scardapane (716949), Andrea Gerbino (716948), Maria Svelto (330761), Cristiano Simone (716950), Monica Carmosino (716944), Massimo Iacoviello (716947), Cinzia Forleo (716943), Sandro Sorrentino (716946), Nicoletta Resta (66121), Martina Calore (716951), Rosanna Valecce (716945), Silvia Torretta (716952), Giuseppe Procino (330755), Francesco Pisani (387328), Stefano Favale (716953)   +15 more
core   +1 more source

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

LivAge: An Online Aging Clock for Murine Transcriptomic Age Estimation

Aging Cell, Volume 25, Issue 9, September 2026.
We present LivAge, an online aging clock that estimates murine transcriptomic age from hepatic RNA‐seq data. Externally validated, it detects accelerated aging in progeroid models and quantifies the effect of geroprotective interventions, providing an accurate, accessible, and ready‐to‐use tool for aging research.
Víctor Celemín‐Capaldi, Guillermina Bea, David Roiz‐Valle, Alejandro P. Ugalde, Clea Bárcena, Pedro M. Quirós, José M. P. Freije   +6 more
wiley   +1 more source

Lamin A/C deficiency-mediated ROS elevation contributes to pathogenic phenotypes of dilated cardiomyopathy in iPSC model

Nature Communications
Mutations in the nuclear envelope (NE) protein lamin A/C (encoded by LMNA), cause a severe form of dilated cardiomyopathy (DCM) with early-onset life-threatening arrhythmias.
Hangyuan Qiu, Yaxun Sun, Xiaochen Wang, Tingyu Gong, Jun Su, Jiaxi Shen, Jingjun Zhou, Jiafeng Xia, Hao Wang, Xiangfu Meng, Guosheng Fu, Donghui Zhang, Chenyang Jiang, Ping Liang   +13 more
doaj   +1 more source

Association of obstetrics and foetal ultrasound parameters with maternal serum Lamin A: A teaching institution-based cross-sectional study

Journal of Family Medicine and Primary Care
Introduction: Ultrasound imaging is commonly used during pregnancy to detect potential foetal anomalies. Lamin A (LMNA), a nuclear envelope protein, has been identified as a potential biomarker for predicting adverse pregnancy outcomes.
Kumar Ranjit, Jiut Ram Keshari, Prabhakar Pankaj, Prakash Pritam, Rani Kirti, Prasad Dipali   +5 more
doaj   +1 more source

[A complex case of diabetes due to LMNA mutation].

La Revue de medecine interne, 2017
IntroductionLes laminopathies (maladies liées aux mutations des lamines A/C) sont des maladies génétiques rares, au spectre phénotypique étendu, incluant les syndromes lipodystrophiques (se caractérisant par une perte sélective de tissu adipeux), dont la forme familiale partielle de type Dunnigan est la plus fréquente.ObservationIl s’agit d’une ...
Ambonville, C., Bouldouyre, M.-A., Laforêt, P., Richard, P., Benveniste, Olivier, Vigouroux, C.   +5 more
openaire   +2 more sources

In Vivo Base Editing Partially Rescues Bone Dysplasia in a Mouse Model of Hutchinson‐Gilford Progeria Syndrome

Aging Cell, Volume 25, Issue 9, September 2026.
Hutchinson‐Gilford progeria syndrome (HGPS) is a premature aging disorder caused by a mutation in LMNA that produces the toxic progerin protein. In this study, an adenine base editor delivered via AAV9 achieved partial gene correction in HGPS mice when given at two weeks of age, partially rescuing bone structural and gene expression parameters and ...
Wayne A. Cabral, Caleb M. Grenko, Diana Yeritsyan, Indeevar Beeram, Shubham Laiwala, Lukas R. Johnson, Urraca L. Tavarez, Tingfen Yan, Stephen M. Wincovitch, Luke W. Koblan, Xin D. Gao, Meirui An, Narisu Narisu, Leslie G. Biesecker, David R. Liu, Ara Nazarian, Francis S. Collins, Michael R. Erdos   +17 more
wiley   +1 more source

Complex phenotype linked to a mutation in exon 11 of the lamin A/C gene: Hypertrophic cardiomyopathy, atrioventricular block, severe dyslipidemia and diabetes

Revista Portuguesa de Cardiologia, 2017
The lamin A/C (LMNA) gene encodes lamins A and C, which have an important role in nuclear cohesion and chromatin organization. Mutations in this gene usually lead to the so-called laminopathies, the primary cardiac manifestations of which are dilated ...
Ana Rita G. Francisco, Inês Santos Gonçalves, Fátima Veiga, Mónica Mendes Pedro, Fausto J. Pinto, Dulce Brito   +5 more
doaj   +1 more source

Genotype‐Dependent Effects of Mechanical Stretch and GATA4‐Targeted Compound 3i‐1262 in Cardiomyopathy Patient–Derived hiPSC‐Cardiomyocytes

Basic &Clinical Pharmacology &Toxicology, Volume 139, Issue 3, September 2026.
ABSTRACT Genetic hypertrophic and dilated cardiomyopathies (HCM and DCM, respectively) are characterised by structural and functional abnormalities that can lead to heart failure. However, current therapies mainly reduce symptoms. Patient‐derived human induced pluripotent stem cell (hiPSC)–derived cardiomyocytes provide a valuable platform to study ...
Saana Pohjavaara, Sini M. Kinnunen, Heikki Ruskoaho, Katriina Aalto‐Setälä, Mika J. Välimäki, Virpi Talman   +5 more
wiley   +1 more source

Normal and aberrant splicing of LMNA

, 2014
The LMNA gene gives rise to at least three isoforms (lamin A, C, lamin AΔ10) as a result of normal alternative splicing, regulated by cis- and trans-acting regulatory factors, as well as the 5′ and 3′ untranslated regions of the gene.
Mastaglia, F.L., Wilton, S.D., Luo, Y-B
core