Results 61 to 70 of about 9,936 (203)

Hutchinson–Gilford Progeria Syndrome: Clinical and Molecular Characterization

The Application of Clinical Genetics, 2020
Harry Pachajoa,1,2 Angelica Claros-Hulbert,3,4 Ximena García-Quintero,3,4 Lina Perafan,1 Andres Ramirez,5 Andres F Zea-Vera6 1Faculty of Health Sciences, Congenital Anomalies and Rare Diseases Investigation Center (CIACER), Universidad Icesi, Cali,
Pachajoa H, Claros-Hulbert A, García-Quintero X, Perafan L, Ramirez A, Zea-Vera AF   +5 more
doaj  

LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes

Frontiers in Genetics, 2017
Mutations in LMNA, encoding nuclear intermediate filament proteins lamins A and C, cause multiple diseases (‘laminopathies’) including muscular dystrophy, dilated cardiomyopathy, familial partial lipodystrophy (FPLD2), insulin resistance syndrome and ...
Alyssa Florwick, Tejas Dharmaraj, Julie Jurgens, David Valle, Katherine L. Wilson   +4 more
doaj   +1 more source

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

Síndrome de progeria de Hutchinson Gilford: mutación silenciosa gly608gly en el gen lmna: reporte de caso y revisión

Iatreia, 2010
INTRODUCCIÓN : mutaciones en el gen LMNA, LAMINA A/C; originan un grupo de desordenes genéticos que pueden ser clasificados en cuatro grupos: enfermedades de músculo estriado y cardiaco, síndromes lipodistroficos, neuropatías periféricas y progeria (1 ...
Lucero Tarin A., Andrea Fiaga, Ximena Saenz   +2 more
doaj  

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

Mutations Involved in Premature-Ageing Syndromes

The Application of Clinical Genetics, 2021
Fabio CoppedèDepartment of Translational Research and of New Surgical and Medical Technologies, University of Pisa, Pisa, ItalyCorrespondence: Fabio CoppedèDepartment of Translational Research and of New Surgical and Medical Technologies ...
Coppedè F
doaj  

Ocular manifestations in the Hutchinson-Gilford progeria syndrome

Indian Journal of Ophthalmology, 2011
The Hutchinson-Gilford progeria (HGP) syndrome is an extremely rare genetic condition characterized by an appearance of accelerated aging in children. The word progeria is derived from the Greek word progeros meaning ′prematurely old′. It is caused by de
Shivcharan L Chandravanshi, Ashok Kumar Rawat, Prem Chand Dwivedi, Pankaj Choudhary   +3 more
doaj   +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

Protein farnesyltransferase inhibitors and progeria

, 2006
Genetic mutations that lead to an accumulation of farnesyl-prelamin A cause progeroid syndromes, including Hutchinson-Gilford progeria syndrome. It seemed possible that the farnesylated form of prelamin A might be toxic to mammalian cells, accounting for
Young, S. G., Bergö, Martin,, Meta, M., Fong, L. G., Yang, S. H.   +4 more
core   +1 more source

Delivery Systems for Therapeutic Genome Editing: Challenges, Innovations, and Future Perspectives

MedComm, Volume 7, Issue 7, July 2026.
Schematic illustration of four emerging CRISPR–Cas delivery platforms defined by distinct design principles and structural features: virus‐mimicking nanosystems (e.g., VLPs), cell‐derived extracellular vesicles, cell‐penetrating peptides, and stimuli‐responsive scaffolds. These platforms enable spatiotemporally controlled delivery of RNPs, mRNA, or DNA
Meijia Yang, Yiqiong Song, Ziyang Wang, Ke Chao, Lifeng Li, Xu Zhang, Xiaoran Duan, Chenglong Yu, Ruyue Xue, Jie Zhao   +9 more
wiley   +1 more source