Results 81 to 90 of about 24,019 (217)

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

Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy

Molecular Therapy: Nucleic Acids, 2018
We assessed the potential of Lmna-mRNA repair by spliceosome-mediated RNA trans-splicing as a therapeutic approach for LMNA-related congenital muscular dystrophy.
Feriel Azibani, Astrid Brull, Ludovic Arandel, Maud Beuvin, Isabelle Nelson, Arnaud Jollet, Esma Ziat, Bernard Prudhon, Sofia Benkhelifa-Ziyyat, Marc Bitoun, Stéphanie Lorain, Gisèle Bonne, Anne T. Bertrand   +12 more
doaj   +1 more source

Methionine Restriction Extends Lifespan in Progeroid Mice and Alters Lipid and Bile Acid Metabolism [PDF]

, 2018
C.L.-O. is supported by grants from the European Union (ERC-2016-ADG, DeAge); Ministerio de Economía y Competitividad (MINECO/FEDER: SAF2014-52413-R and SAF2017-87655-R); Instituto de Salud Carlos III (RTICC); Progeria Research Foundation (PRF2016-66 ...
Bárcena Fernández, Clea, Durand, S., Fernández García, María Teresa, Garabaya Fernández, Cecilia, Kroemer, Guido, López Otín, Carlos, Mariño García, Guillermo, Mayoral García, Pablo, Menéndez Caravia, Xurde, Moral Quirós, Pedro, Pérez Freije, José María, Rodríguez, Francisco   +11 more
core   +3 more sources

A Novel Human Cellular System for Studying Normal Aging and for Anti‐Aging Discovery

Aging Cell, Volume 25, Issue 2, February 2026.
This study introduces a human cellular aging model using placental trophoblasts (hTSC‐STBs) that mimics key aging features like senescence and genomic instability. It aligns with human tissue aging and responds to anti‐aging treatments, offering a scalable platform to screen potential therapies and bridge lab findings to clinical applications ...
Zhen Feng, Cheuk Shuen Li, Haifeng Fu, Wenxin Jiang, Weiyu Zhang, Yingzhang Huang, Yunying Huang, Timothy Theodore Ka Ki Tam, Yang Li, Fang Liu, Liming Lu, Yin Lau Lee, William Shu Biu Yeung, Gordon Dougan, Pentao Liu   +14 more
wiley   +1 more source

BCFA: Bespoke Control Flow Analysis for CFA at Scale

, 2020
Many data-driven software engineering tasks such as discovering programming patterns, mining API specifications, etc., perform source code analysis over control flow graphs (CFGs) at scale.
Benjamin Livshits V., Bourdoncle François, Cobleigh Jamieson M., Dyer Robert, Dyer Robert, Lam Patrick   +5 more
core   +1 more source

Genetic Landscape of Robin Sequence: A Systematic Review

Clinical Genetics, Volume 109, Issue 2, Page 218-232, February 2026.
This systematic review summarizes the genetic landscape of Robin sequence (RS), highlighting key differences between isolated and non‐isolated forms and emphasizing the role of up‐to‐date genetic testing for diagnosis and clinical management. ABSTRACT Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper ...
Shirley van de Velde, Aebele B. Mink van der Molen, Augusta M. A. Lachmeijer, Daan de Leijer, Jeroen J. Smits, Maarten P. G. Massink, Sarah L. Versnel, Marie‐José H. van den Boogaard, Emma C. Paes   +8 more
wiley   +1 more source

Non-compaction cardiomyopathy – brief review [PDF]

, 2017
Left ventricular non-compaction cardiomyopathy is a genetic disorder characterized by the presence of two myocardial layers with numerous prominent trabeculations and deep inter-trabecular recesses that communicate with the ventricular cavity.
Berceanu, Mihaela, Constantin, Anca, Donoiu, Ionuț, Istrătoaie, Octavian, Militaru, Constantin, Mirea, Oana, Mănescu, Mirela, Târtea, Georgică Costinel   +7 more
core   +3 more sources

Impact of neuromuscular assessment on arrhythmic risk in LMNA cardiomyopathy [PDF]

, 2023
Ernesto Pepe, Andrea Villatore, Chiara Di Resta, Elena Paiotti, Luciano Molinari, Marica Cariello, Gaia Souryal, P Della Bella, Stefano C. Previtali, Simone Sala, G Peretto   +10 more
openalex   +1 more source

A membranous nephropathy variant mimicking minimal change disease

The Journal of Pathology: Clinical Research, Volume 12, Issue 1, January 2026.
Abstract This study characterizes a novel disease pattern of membranous nephropathy (MN) that exhibits overlapping clinicopathological features with minimal change disease (MCD), termed ‘MCD‐like MN’. Patients with histologically confirmed MN showing sparse and segmental subepithelial electron‐dense deposits (EDD) but clinically resembling MCD were ...
Chuqi Pan, Silin Xiang, Mengya Jiang, Yuan Li, Biao Huang, Tian Ye, Yuanyuan Du, Xuanli Tang, Yuan Yuan   +8 more
wiley   +1 more source

The Pathogenic Mechanisms of and Novel Therapies for Lamin A/C-Related Dilated Cardiomyopathy Based on Patient-Specific Pluripotent Stem Cell Platforms and Animal Models

Pharmaceuticals
Variants (pathogenic) of the LMNA gene are a common cause of familial dilated cardiomyopathy (DCM), which is characterised by early-onset atrioventricular (AV) block, atrial fibrillation and ventricular tachyarrhythmias (VTs), and progressive heart ...
Xin-Yi Wu, Yee-Ki Lee, Yee-Man Lau, Ka-Wing Au, Yiu-Lam Tse, Kwong-Man Ng, Chun-Ka Wong, Hung-Fat Tse   +7 more
doaj   +1 more source