Results 61 to 70 of about 14,020 (216)
Cells, 2023 Hutchinson–Gilford progeria syndrome (HGPS) is a rare genetic disease that causes premature aging symptoms, such as vascular diseases, lipodystrophy, loss of bone mineral density, and alopecia. HGPS is mostly linked to a heterozygous and de novo mutation
Ramona Hartinger +4 more
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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 +3 more
wiley +1 more source
Progeroid Syndrome and Mutation in LMNA Gene: Report of Two Cases from Iran [PDF]
Journal of Kerman University of Medical Sciences, 2005 Two Iranian cases with very rare progeroid syndrome are reported. The first is a 24-year-old girl who has been healthy till her 13th birthday. From that time she has been suffering from a progressive generalized and multi-systemic illness.
Y Shafeghati, N Levy, G.M Martin
doaj
FEBS Open Bio, Volume 16, Issue 3, Page 474-486, March 2026.Induction of diabetes in three different mouse strains uniformly resulted in an increase in TNAP activity and a reduction in pyrophosphate (PPi) in the circulation. Inhibition of TNAP restored plasma PPi. Diabetes‐induced calcification in the media layer of the aorta was detected only in the Abcc6−/− strain, which is predisposed to ectopic ...
Krisztina Fülöp +13 more
wiley +1 more source
Hutchinson–Gilford Progeria Syndrome: Clinical and Molecular Characterization
The Application of Clinical Genetics, 2020 Harry Pachajoa,1,2 Angelica Claros-Hulbert,3,4 Ximena García-Quintero,3,4 Lina Perafan,1 Andres Ramirez,5 Andres F Zea-Vera6 1Faculty of Health Sciences, Congenital Anomalies and Rare Diseases Investigation Center (CIACER), Universidad Icesi, Cali,
Pachajoa H +5 more
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Nuclear Envelope, Nuclear Lamina, and Inherited Disease [PDF]
, 2005 The nuclear envelope is composed of the nuclear membranes, nuclear lamina, and nuclear pore complexes. In recent years, mutations in nuclear-envelope proteins have been shown to cause a surprisingly wide array of inherited diseases.
Courvalin, Jean-Claude, Worman, Howard,
core +4 more sources
Hematopoietic (stem) cells—The elixir of life?
FEBS Letters, Volume 600, Issue 4, Page 392-417, February 2026.The aging of HSCs (hematopoietic stem cells) and the blood system leads to the decline of other organs. Rejuvenating aged HSCs improves the function of the blood system, slowing the aging of the heart, kidney, brain, and liver, and the occurrence of age‐related diseases.
Emilie L. Cerezo +4 more
wiley +1 more source
Frontiers in Cell and Developmental Biology, 2019 Emerin (EMD) and barrier to autointegration factor 1 (BANF1) each bind A-type lamins (LMNA) as fundamental components of nuclear lamina structure. Mutations in LMNA, EMD and BANF1 are genetically linked to many tissue-specific disorders including Emery ...
Tejas Dharmaraj +5 more
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The thermodynamics of metabolism, cardiovascular performance and exercise, in health and diabetes: The objective of clinical markers [PDF]
, 2013 Extensive experience in UK National Health Service metabolic syndrome/type 2 diabetes clinics highlights the need for convenient clinical marker(s) which can be readily used to indicate the success or otherwise of alternative therapies.
Atherton, MA +4 more
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Muscle-derived stem/progenitor cell dysfunction in Zmpste24-deficient progeroid mice limits muscle regeneration [PDF]
, 2013 Introduction. Loss of adult stem cell function during aging contributes to impaired tissue regeneration. Here, we tested the aging-related decline in regeneration potential of adult stem cells residing in the skeletal muscle. Methods.
Ahani, B +5 more
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