Results 61 to 70 of about 3,816 (187)
Expression of progerin does not result in an increased mutation rate [PDF]
Chromosome Research, 2017 In the premature ageing disease Hutchinson-Gilford progeria syndrome (HGPS), the underlying genetic defect in the lamin A gene leads to accumulation at the nuclear lamina of progerin-a mutant form of lamin A that cannot be correctly processed. This has been reported to result in defects in the DNA damage response and in DNA repair, leading to the ...
Deniaud, Emmanuelle +3 more
openaire +3 more sources
Recent Advances in Animal and Human Pluripotent Stem Cell Modeling of Cardiac Laminopathy [PDF]
, 2016 published_or_final_versio
Jiang, Y +7 more
core +1 more source
Epithelial stem cells In Hutchinson-Gilford progeria syndrome [PDF]
, 2015 Hutchinson-Gilford progeria syndrome (HGPS) and restrictive dermopathy (RD) are two rare genetic disorders that affect children. Complications from cardiovascular disease, including atherosclerosis, are the most common cause of death in HGPS, which ...
McKenna, Tomás
core +1 more source
Oncology Reports, 2017 Ultraviolet (UV) radiation is the primary risk factor underlying photoaging and photocarcinogenesis. Mounting research has focused on the role of DNA damage response pathways in UV-induced double-strand break (DSB) repair. In the present study, we hypothesized that UVA-induced aberrant progerin upregulation may adversely affect p53-binding protein 1 ...
Xin, Huang +6 more
openaire +3 more sources
Progerin, an Aberrant Spliced Form of Lamin A, Is a Potential Therapeutic Target for HGPS
Cells, 2023 Hutchinson–Gilford progeria syndrome (HGPS) is an extremely rare genetic disorder caused by the mutant protein progerin, which is expressed by the abnormal splicing of the LMNA gene.
Bae-Hoon Kim +5 more
doaj +1 more source
Histopathology of aortic complications in bicuspid aortic valve versus Marfan syndrome: relevance for therapy? [PDF]
, 2016 Patients with bicuspid aortic valve (BAV) and patients with Marfan syndrome (MFS) are more prone to develop aortic dilation and dissection compared to persons with a tricuspid aortic valve (TAV).
Bogers, A.J.J.C. (Ad) +10 more
core +1 more source
Scientific Reports, 2021 Children with Hutchinson–Gilford Progeria Syndrome (HGPS) suffer from multiple cardiovascular pathologies due to the expression of progerin, a mutant form of the nuclear envelope protein Lamin A.
Ryan von Kleeck +5 more
doaj +1 more source
Vascular disease modeling using induced pluripotent stem cells: Focus in Hutchinson-Gilford Progeria Syndrome [PDF]
, 2016 Transparency document related to this article can be found online at http://dx.doi.org/10.1016/j.bbrc.2015.10.014Induced pluripotent stem cells (iPSCs) represent today an invaluable tool to create disease cell models for modeling and drug screening ...
Ferreira, L. +3 more
core +1 more source
Role of progerin-induced telomere dysfunction in HGPS premature cellular senescence [PDF]
Journal of Cell Science, 2010 Hutchinson-Gilford Progeria Syndrome (HGPS) is a premature-aging syndrome caused by a dominant mutation in the gene encoding lamin A, which leads to an aberrantly spliced and processed protein termed progerin. Previous studies have shown that progerin induces early senescence associated with increased DNA-damage signaling and that telomerase extends ...
Erica K, Benson +2 more
openaire +2 more sources
JCI Insight, 2021 The mutant nuclear lamin protein (progerin) produced in Hutchinson-Gilford progeria syndrome (HGPS) results in loss of arterial smooth muscle cells (SMCs), but the mechanism has been unclear. We found that progerin induces repetitive nuclear membrane (NM)
Paul H. Kim +9 more
doaj +1 more source