Results 51 to 60 of about 7,451 (172)

Progeroid Syndrome and Mutation in LMNA Gene: Report of Two Cases from Iran [PDF]

Journal of Kerman University of Medical Sciences, 2005
Two Iranian cases with very rare progeroid syndrome are reported. The first is a 24-year-old girl who has been healthy till her 13th birthday. From that time she has been suffering from a progressive generalized and multi-systemic illness.
Y Shafeghati, N Levy, G.M Martin
doaj  

The telomeric protein AKTIP interacts with A- and B-type lamins and is involved in regulation of cellular senescence [PDF]

Open Biology, 2016
AKTIP is a shelterin-interacting protein required for replication of telomeric DNA. Here, we show that AKTIP biochemically interacts with A- and B-type lamins and affects lamin A, but not lamin C or B, expression.
Romina Burla, Mariateresa Carcuro, Mattia La Torre, Federica Fratini, Marco Crescenzi, Maria Rosaria D'Apice, Paola Spitalieri, Grazia Daniela Raffa, Letizia Astrologo, Giovanna Lattanzi, Enrico Cundari, Domenico Raimondo, Annamaria Biroccio, Maurizio Gatti, Isabella Saggio   +14 more
doaj   +1 more source

MICOS and MIMAS, multifunctional assemblies linking mitochondrial biogenesis, architecture, and function

Protein Science, Volume 35, Issue 6, June 2026.
Abstract Mitochondrial cristae architecture is central for optimal oxidative phosphorylation and a healthy mitochondrial physiology. The intricate architecture of the inner mitochondrial membrane relies on protein complexes that compartmentalize the membrane by imposing membrane curvature, forming membrane contact sites or membrane subdomains ...
Patrick Horten, Kuo Song, Nikolaus Pfanner, Heike Rampelt   +3 more
wiley   +1 more source

The Evolving Landscape of Clinical Aging Clocks: From Epigenetic to Multi‐Omics Integration

Aging Cell, Volume 25, Issue 6, June 2026.
Multi‐omics aging clocks capture biological heterogeneity beyond single‐omics models, improving risk stratification. Key challenges include unknown biological meaning, timescale mismatches, and validation gaps. Future clocks must distinguish pathological damage from adaptive remodeling—damage accumulation is the most actionable target for anti‐aging ...
Liying Liu, Yuanyuan Lai, Chunhui Tian, Yufei Huang, Jianheng Hao, Yuemeng Zhao, Dan Chen, Tianyu Wu, Daqian Zhou, Xiaoyan Zheng, Han Yang, Zheng Yu, Nihong Li, Jie Yang   +13 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  

Farnesyltransferase Deficiency in Cardiomyocytes Initiates Senescence and Contributes to Cardiac Fibrosis

Advanced Science, Volume 13, Issue 26, 8 May 2026.
Lipid overload suppresses SREBF2‐mediated FNTB expression, leading to defective Lamin A maturation and nuclear envelope instability. This nuclear catastrophe triggers a pro‐fibrotic senescence program in cardiomyocytes. Notably, restoring nuclear integrity via AAV9‐based gene therapy effectively attenuates cardiac remodeling, identifying the ...
Yuxiao Chen, Lian Lou, Xuan Zhang, Lin Yan, Qi Zhang, Wen Shi, Jie Ding, Xu Lin, Rong Jiang, Shuo Liu, Thida Sok, Pengli Wang, Yun Mou, Jie Han, Shenjiang Hu, Xiaogang Guo, Jian Yang   +16 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

Analysis of Real‐World Data Utilization in the Orphan Drug Approval Process: Focusing on New Drug Marketing Applications Submitted to the FDA

Clinical Pharmacology &Therapeutics, Volume 119, Issue 5, Page 1340-1349, May 2026.
In the field of rare diseases—where traditional clinical trials are often impractical—real‐world data (RWD) have emerged as a scientifically valid alternative to support regulatory decision making. This study systematically evaluates the utilization of RWD in orphan drug approvals by the FDA Center for Drug Evaluation and Research (CDER) over the past ...
Minji Kim, Eunjin Hong
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

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