Results 81 to 90 of about 2,950 (183)

Personalized Models of Biological Barriers and Their Diseases: Recent Progress with Organs‐On‐Chips

Advanced Biology, Volume 10, Issue 2, February 2026.
Buck and Bugter et al. explore the architectural diversity and physiological functions of human barrier systems and reveal how organ‐on‐chip platforms, particularly those integrating patient‐derived cells, are advancing barrier disease modeling. They highlight how emerging biological and technological advances can be used to bridge the gap between ...
Franziska Buck, Jeroen Bugter, Gizem Yorukoglu, Mina Kazemzadeh Dastjerd, Thomas E. Winkler   +4 more
wiley   +1 more source

New therapeutic approaches to HGPS based on progerin inhibition [PDF]

Orphanet Journal of Rare Diseases, 2015
Hutchinson-Gilford Progeria Syndrome (HGPS) is caused by a de novo heterozygous mutation on LMNA gene that leads to accumulation of progerin, a mutant form of prelamin A. HGPS skin fibroblasts are characterized by multiple nuclear defects: nuclear shape abnormalities chromatin structure alterations, increased DNA damage and cell cycle alterations ...
openaire   +1 more source

Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn [PDF]

European Journal of Human Genetics, 2012
Hutchinson-Gilford progeria syndrome (HGPS) is an important model disease for premature ageing. Affected children appear healthy at birth, but develop the first symptoms during their first year of life. They die at an average age of 13 years, mostly because of myocardial infarction or stroke.
Janine, Reunert, Rüdiger, Wentzell, Michael, Walter, Sibylle, Jakubiczka, Martin, Zenker, Thomas, Brune, Stephan, Rust, Thorsten, Marquardt   +7 more
openaire   +2 more sources

Temsirolimus Partially Rescues the Hutchinson-Gilford Progeria Cellular Phenotype.

PLoS ONE, 2016
Hutchinson-Gilford syndrome (HGPS, OMIM 176670, a rare premature aging disorder that leads to death at an average age of 14.7 years due to myocardial infarction or stroke, is caused by mutations in the LMNA gene.
Diana Gabriel, Leslie B Gordon, Karima Djabali   +2 more
doaj   +1 more source

Potential Benefits of Allogeneic Haploidentical Adipose Tissue-Derived Stromal Vascular Fraction in a Hutchinson–Gilford Progeria Syndrome Patient

Frontiers in Bioengineering and Biotechnology, 2020
Hutchinson–Gilford progeria syndrome (HGPS) is a rare, fatal, and genetic disorder in the LMNA gene encoding for prelamin A. Normally, prelamin A is processed to become lamin A protein.
Jaewoo Pak, Jaewoo Pak, Jung Hun Lee, Jung Hun Lee, Jeong Ho Jeon, Young Bae Kim, Byeong Chul Jeong, Sang Hee Lee   +7 more
doaj   +1 more source

Clinicopathological Challenge: A Progressively Enlarging Hardened Skin Plaque

International Journal of Dermatology, Volume 65, Issue 1, Page 15-17, January 2026.
ABSTRACT Stiff skin syndrome (SSS) is a rare connective tissue disease manifesting as a progressive, non‐inflammatory fibrosis that causes the skin and soft tissues to harden. It can result in restricted joint movement, particularly affecting the shoulder and pelvic girdle. A segmental variant with a better prognosis has been described.
Marian Fernández Martínez, Frida Paola Rivera Lira, Rodrigo Roldán‐Marín, Sonia Toussaint‐Caire   +3 more
wiley   +1 more source

Nuclear lamins and progerin are dispensable for antioxidant Nrf2 response to arsenic and cadmium [PDF]

Cellular Signalling, 2017
Lamins are important constituents of the nuclear inner membrane and provide a platform for transcription factors and chromatin. Progerin, a C-terminal truncated lamin A mutant, causes premature aging termed Hutchinson-Gilford Progeria Syndrome (HGPS). Oxidative stress appears to be involved in the pathogenesis of HGPS, although the mechanistic role of ...
Kazunori Hashimoto, Rima Majumdar, Yoshiaki Tsuji   +2 more
openaire   +2 more sources

Progerin detection in a subset of terminally differentiated keratinocytes.

, 2013
Left panels correspond to anti-progerin monoclonal antibody staining of skin sections derived from individuals of indicated age. Right panels correspond to the merged signal of dapi and progerin signals.
Desiree Ratner (82177), Meepa Lokuge (82178), Karima Djabali (82182), David M. Owens (82179), Dayle McClintock (82176), Francis S. Collins (82181), Leslie B. Gordon (82180)   +6 more
core   +1 more source

Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome [PDF]

, 2005
Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder that is characterized by dramatic premature aging and accelerated cardiovascular disease.
Erdos, M. R., Fiordalisi, J. J., Madigan, J. P., Varga, R., Cox, A. D., Gordon, L. B., Collins, F. S., Capell, B. C., Conneely, K. N., Der, C. J.   +9 more
core   +1 more source

Unique Preservation of Neural Cells in Hutchinson- Gilford Progeria Syndrome Is Due to the Expression of the Neural-Specific miR-9 MicroRNA

Cell Reports, 2012
One puzzling observation in patients affected with Hutchinson-Gilford progeria syndrome (HGPS), who overall exhibit systemic and dramatic premature aging, is the absence of any conspicuous cognitive impairment. Recent studies based on induced pluripotent
Xavier Nissan, Sophie Blondel, Claire Navarro, Yves Maury, Cécile Denis, Mathilde Girard, Cécile Martinat, Annachiara De Sandre-Giovannoli, Nicolas Levy, Marc Peschanski   +9 more
doaj   +1 more source