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Hutchinson-Gilford progeria syndrome alters the endothelial genetic response to laminar shear stress [PDF]

Frontiers in Physiology
IntroductionHutchinson-Gilford Progeria Syndrome (HGPS) is a fatal, accelerated-aging disease caused by a mutation in the nuclear envelope protein Lamin A.
Crystal C. Kennedy, Jonathan L. Carter, George A. Truskey, George A. Truskey   +3 more
doaj   +2 more sources

Single-cell RNA sequencing analysis reveals the critical role of fibroblasts in aortic progeria-associated vascular remodeling in Hutchinson-Gilford progeria syndrome mice [PDF]

Frontiers in Immunology
BackgroundPatients with Hutchinson-Gilford progeria syndrome (HGPS) typically succumb to cardiovascular diseases in their teens. Although fibroblasts have been implicated in the progression of arteriosclerosis, their roles and mechanisms in progeroid ...
Qian Sun, Qian Sun, Liehao Yang, Liehao Yang, Zilong Zhou, Nan Wu, Chunyi Li, Qianying Hu, Xianling Cong, Xianling Cong   +9 more
doaj   +2 more sources

Hemoglobinopathies and iron deficiency among Northeast-Thai blood donors deferred for low hemoglobin [PDF]

Scientific Reports
While iron deficiency (ID) is well-known as the main reason for low hemoglobin (Hb) deferral among blood donors, the contribution of hemoglobinopathies (HgPs) has been overlooked.
Tassaneewan Chueajetton, Hataichanok Srivorakun, Pattara Sanchaisuriya, Kanokwan Sanchaisuriya   +3 more
doaj   +2 more sources

Impact of miR-181a on SIRT1 Expression and Senescence in Hutchinson–Gilford Progeria Syndrome [PDF]

Diseases
Background/Objectives: Hutchinson–Gilford progeria syndrome (HGPS) is a rare and fatal genetic disease caused by a silent mutation in the LMNA gene, leading to the production of progerin, a defective prelamin A variant.
Eva-Maria Lederer, Felix Quirin Fenzl, Peter Krüger, Moritz Schroll, Ramona Hartinger, Karima Djabali   +5 more
doaj   +2 more sources

Why and How Are Infants with Hutchinson–Gilford Progeria Syndrome Born Without Severe Manifestations? [PDF]

Medical Sciences
Children with Hutchinson–Gilford progeria syndrome (HGPS) are born without height and weight abnormalities, and postnatal development is delayed from two months of age.
Mariia A. Erokhina, Ekaterina A. Vorotelyak, Andrey V. Vasiliev, Vepa K. Abdyev   +3 more
doaj   +2 more sources

Rare case of longevity in Hutchinson-Gilford progeria syndrome and literature review [PDF]

Orphanet Journal of Rare Diseases
Hutchinson-Gilford progeria syndrome (HGPS) is a rare autosomal dominant disorder characterised by premature ageing, with an average life expectancy of 14.6 years. We report a case of HGPS associated with a typical C. 1824 C > T (P.
Xiao-ling Cai, Hang Chen, Xue-qin Lin, Hong Zhang, Yi-fei Xiang, Ming-xiang Wu, Kai-yang Lin   +6 more
doaj   +2 more sources

Adenine base editing rescues pathogenic phenotypes in tissue engineered vascular model of Hutchinson-Gilford progeria syndrome [PDF]

APL Bioengineering
The rare, accelerated aging disease Hutchinson-Gilford Progeria Syndrome (HGPS) is commonly caused by a de novo c.1824 C > T point mutation of the LMNA gene that results in the protein progerin.
Nadia O. Abutaleb, Xin D. Gao, Akhil Bedapudi, Leandro Choi, Kevin L. Shores, Crystal Kennedy, Jordyn E. Duby, Kan Cao, David R. Liu, George A. Truskey   +9 more
doaj   +2 more sources

MG132 Induces Progerin Clearance and Improves Disease Phenotypes in HGPS-like Patients’ Cells

Cells, 2022
Progeroid syndromes (PS), including Hutchinson-Gilford Progeria Syndrome (HGPS), are premature and accelerated aging diseases, characterized by clinical features mimicking physiological aging.
Karim Harhouri, Pierre Cau, Frank Casey, Koffi Mawuse Guedenon, Yassamine Doubaj, Lionel Van Maldergem, Gerardo Mejia-Baltodano, Catherine Bartoli, Annachiara De Sandre-Giovannoli, Nicolas Lévy   +9 more
doaj   +1 more source

Nuclear Pore Complexes Cluster in Dysmorphic Nuclei of Normal and Progeria Cells during Replicative Senescence

Cells, 2021
Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disease caused by a mutation in LMNA. A G608G mutation in exon 11 of LMNA is responsible for most HGPS cases, generating a truncated protein called “progerin”.
Jennifer M. Röhrl, Rouven Arnold, Karima Djabali   +2 more
doaj   +1 more source

Lonafarnib and everolimus reduce pathology in iPSC-derived tissue engineered blood vessel model of Hutchinson-Gilford Progeria Syndrome

Scientific Reports, 2023
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare, fatal genetic disease that accelerates atherosclerosis. With a limited pool of HGPS patients, clinical trials face unique challenges and require reliable preclinical testing. We previously reported a
Nadia O. Abutaleb, Leigh Atchison, Leandro Choi, Akhil Bedapudi, Kevin Shores, Yantenew Gete, Kan Cao, George A. Truskey   +7 more
doaj   +1 more source