Results 51 to 60 of about 7,479 (177)

Mice with reduced expression of the telomere-associated protein Ft1 develop p53-sensitive progeroid traits [PDF]

, 2018
Human AKTIP and mouse Ft1 are orthologous ubiquitin E2 variant proteins involved in telomere maintenance and DNA replication. AKTIP also interacts with A- and B-type lamins.
Ana, Cumano, Bartolazzi, Armando, Bucciarelli, Elisabetta, Burla, Romina, Carcuro, Mariateresa, DEL GIUDICE, Simona, Gatti, Maurizio, Giulia, Piaggio, Ilaria, Virdia, Isabella, Manni, LA TORRE, Mattia, Merigliano, Chiara, Mottini, Carla, RAMPIONI VINCIGUERRA, GIAN LUCA, Riminucci, Mara, Saggio, Isabella, Silvia, Soddu, Verni', Fiammetta, Zanetti, Giorgia   +18 more
core   +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

A 3-year-old girl with old face appearance: Case report

Journal of Dermatology and Dermatologic Surgery, 2022
Hutchinson–Gilford Progeria Syndrome (HGPS) is a genetic disorder. Patients who suffer from this disorder show premature aging and a “plucked-bird” appearance on the face. This case reports a 3-year-old female, who manifested the symptoms of HGPS.
Hamad A Alfahaad
doaj   +1 more source

Supply and Demand in the Mathematics of Rare Disease Drug Development: Why Choosing the Right Model Is Crucial

Clinical and Translational Science, Volume 19, Issue 5, May 2026.
ABSTRACT Clinical trials for rare diseases face a fundamental mathematical challenge that conventional randomized controlled trial (RCT) designs cannot overcome. With approximately 95% of the estimated 10,000–16,000 rare diseases lacking approved therapies, and drug development programs failing at rates exceeding 75% in non‐oncology indications, the ...
Marshall L. Summar, Janet Woodcock
wiley   +1 more source

Progeria (Hutchinson-Gilford Syndrome): Literature Review and Clinical Case

Вопросы современной педиатрии, 2022
Progeria, or Hutchinson-Gilford Syndrome is a rare disease from the group of laminopathies characterized by premature aging with skin, bones and cardiovascular system lesions.
Natalia V. Buchinskaya, Aida Zh. Akhenbekova, Aliya A. Bugybay, Mikhail M. Kostik   +3 more
doaj   +1 more source

Murine Progeria Model Exhibits Delayed Fracture Healing With Senescent Phenotype and Dysregulated Immune Response

Journal of Orthopaedic Research, Volume 44, Issue 4, April 2026.
Graphical Abstract This study explores whether a murine model of progeria has a delayed fracture healing phenotype that resembles chronological aging but with an accelerated timeline that could make it a valuable research tool. ABSTRACT An estimated 189 million bone fractures occurred in 2019 making it one of the most globally prevalent injuries ...
Victoria R. Duke, Marc J. Philippon Jr., Dane R. G. Lind, Herbert Kasler, Kohei Yamaura, Matt Huard, Molly Czachor, Justin Hollenbeck, Justin Brown, Alex Garcia, Jacob D. Matityahu, Naomasa Fukase, Ralph S. Marcucio, Anna‐Laura Nelson, William S. Hambright, Dustin M. Snapper, Johnny Huard, Chelsea S. Bahney   +17 more
wiley   +1 more source

Hutchinson - Gilford progeria syndrome: A rare case report

Indian Dermatology Online Journal, 2014
Hutchinson - Gilford Progeria Syndrome is a rare genetic disorder characterized by premature aging involving the skin, bones, heart, and blood vessels. We report a three-year-old boy with clinical manifestations characteristic of this syndrome.
Subhash Kashyap, Vinay Shanker, Neeraj Sharma   +2 more
doaj   +1 more source

Advances in CRISPR Base Editing: From Molecular Evolution to Therapeutic Applications in Genomic Medicine

Journal of Cellular and Molecular Medicine, Volume 30, Issue 8, April 2026.
ABSTRACT CRISPR‐Cas9 systems revolutionized gene editing, but inherent drawbacks, namely DNA double‐strand breaks (DSBs) and the difficulty of achieving precise repairs (due to low HDR efficiency), led researchers to invent new, more accurate gene editing tools.
Melike Aliciaslan, Ezgi Erbasan, Fulya Erendor, Salih Sanlioglu   +3 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  

Simultaneous Shoulder and Hip Dislocation in a 12-Year-Old Girl with Hutchinson-Gilford Progeria Syndrome [PDF]

Acta Medica Iranica, 2012
Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature ageing disorder that is characterized by accelerated degenerative changes of the cutaneous, musculoskeletal and cardiovascular systems.
Ramin Espandar, Amir Sobhani Eraghi, Shirin Mardookhpour   +2 more
doaj   +1 more source