Results 71 to 80 of about 15,666 (259)

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

Targeting of NAT10 enhances healthspan in a mouse model of human accelerated aging syndrome. [PDF]

, 2018
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare, but devastating genetic disease characterized by segmental premature aging, with cardiovascular disease being the main cause of death.
Abrudan, Monica, Adams, David J, Atkinson, James, Balmus, Gabriel, Barros, Ana C, Clift, Dean, Collins, Casey, Demir, Mukerrem, Geisler, Nicola J, Jackson, Stephen P, Jacobsen, Matt, Karp, Natasha A, Kirton, Andrea, Larrieu, Delphine, Lelliott, Christopher J, Rodriguez, Raphael, Sanger Mouse Genetics Project, White, Jacqueline K   +17 more
core   +2 more sources

Emerging Therapeutic Strategies in Anti‐Aging Medicine: A Comprehensive Review

Medicine Bulletin, Volume 2, Issue 1, Page 94-123, January 2026.
ABSTRACT Aging is orchestrated by interconnected hallmarks such as genomic instability, mitochondrial dysfunction, cellular senescence, and disrupted intercellular communication, which collectively drive chronic disease progression. Recent advances have expanded therapeutic opportunities to include pharmacological agents, gene and epigenome editing ...
Yundong Peng, Rui Li, Huan Li, Jun Zhou, Xuanshi Liu, Guilherme Valente, Tatiana de Campos Melo, Sifan Chen, Lei Gu   +8 more
wiley   +1 more source

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  

Age‐Dependent KLK8 Upregulation Contributes to Elevated Susceptibility to Ventilator‐Induced Lung Injury in the Elderly Mice

Aging Cell, Volume 25, Issue 1, January 2026.
Our research firstly indicated that age‐dependent upregulation of tissue kallikrein‐related peptidase 8 (KLK8) induces endothelial senescence through modulating the fibronectin‐FAK‐Akt‐PARP1/2 axis, thereby increasing the vulnerability of aged mice to low‐tidal‐volume ventilator‐induced lung injury (VILI).
Di Liu, Tian‐Tian Lin, Hui Zhang, Ying Zhao, Chu‐Fan Xu, Yu‐Jian Liu, Lai Jiang, Xiao‐Yan Zhu   +7 more
wiley   +1 more source

Rare BANF1 Alleles and Relatively Frequent EMD Alleles Including ‘Healthy Lipid’ Emerin p.D149H in the ExAC Cohort

Frontiers in Cell and Developmental Biology, 2019
Emerin (EMD) and barrier to autointegration factor 1 (BANF1) each bind A-type lamins (LMNA) as fundamental components of nuclear lamina structure. Mutations in LMNA, EMD and BANF1 are genetically linked to many tissue-specific disorders including Emery ...
Tejas Dharmaraj, Youchen Guan, Julie Liu, Catherine Badens, Benedicte Gaborit, Katherine L. Wilson   +5 more
doaj   +1 more source

Promising Results With NAD Supplementation in Rare Diseases With Premature Aging and DNA Damage

Aging Cell, Volume 25, Issue 1, January 2026.
Increased DNA damage leads to increased parylation, causing mitochondrial dysfunction. This happens when DNA repair is defective, for example in known diseases and DNA repair capacity varies between individuals, some being at higher risk for hyperparylation.
Vilhelm A. Bohr
wiley   +1 more source

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

Age-dependent changes of nuclear morphology are uncoupled from longevity in Caenorhabditis elegans IGF/insulin receptor daf-2 mutants [PDF]

, 2016
Nuclear envelope (NE) architecture and aging have been associated since the discovery that certain human progeria diseases are due to perturbations in processing of lamin A protein, generating alterations in NE morphology. However, whether changes in the
Askjaer, Peter, Muñoz, Manuel J., Pérez-Jiménez, Mercedes M., Rodríguez-Palero, María Jesús, Ródenas, Eduardo   +4 more
core   +1 more source

Loss of p62 Binding Allows TIF‐IA Accumulation in Senescence, Which Promotes Phenotypic Changes to Nucleoli and the Senescence Associated Secretory Phenotype

Aging Cell, Volume 25, Issue 1, January 2026.
P62‐TIF‐IA–mediated regulation of senescence and ageing. In healthy tissue, p62 facilitates TIF‐IA turnover. Upon senescence induction, ATM activation increases TIF‐IA phosphorylation at S44, reducing its p62 binding and causing TIF‐IA accumulation.
Hazel C. Thoms, Tyler S. Brant, Katie Duckett, Yizheng Yang, Jinxi Dong, Hongfei Wang, Freya Derby, Oluwatumilara F. Akeke, Faizah Al‐Alayeen, Amy Newell, Piotr Manasterski, Aishwarya Gopalakrishnan, Derek Mann, Fraser R. Millar, Alex Von Kriegsheim, Juan Carlos Acosta, Fiona Oakley, Lesley A. Stark   +17 more
wiley   +1 more source