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
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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 +2 more
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Nuclear import pathway key to rescuing dominant progerin phenotypes [PDF]
Science Signaling, 2018 Restoring a nuclear import pathway rescues pathological phenotypes of cells from HGPS patients (Larrieuet al., in 3 July 2018 issue).
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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
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Development of an accelerated cellular model for early changes in Alzheimer’s disease
Scientific Reports, 2023 Alzheimer’s Disease (AD) is a leading cause of dementia characterized by amyloid plaques and neurofibrillary tangles, and its pathogenesis remains unclear.
Huijing Xue +4 more
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Cardiac electrical defects in progeroid mice and Hutchinson-Gilford progeria syndrome patients with nuclear lamina alterations [PDF]
, 2016 Hutchinson–Gilford progeria syndrome (HGPS) is a rare genetic disease caused by defective prelamin A processing, leading to nuclear lamina alterations, severe cardiovascular pathology, and premature death.
Benítez Iglesias, Raúl +14 more
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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
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A new connection between VHL and cancer threads through progerin [PDF]
Cell Cycle, 2013 A-type nuclear lamins, all encoded by the LMNA gene through alternative splicing, are targets for mutation in a wide range of rare diseases, including a dominant mutation that enhances production of lamin A splice variant progerin, causing Hutchinson-Gilford progeria syndrome (HGPS).1 Often ignored, however, is the complex and poorly understood ...
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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
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Impact of MnTBAP and Baricitinib Treatment on Hutchinson–Gilford Progeria Fibroblasts
Pharmaceuticals, 2022 Hutchinson–Gilford progeria syndrome (HGPS) is a rare premature aging disease. It is caused by a mutation in the LMNA gene, which results in a 50-amino-acid truncation of prelamin A.
Elena Vehns +2 more
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