نتایج جستجو برای: progeroid syndromes

تعداد نتایج: 81654  

2007
Johannes Grillari Hermann Katinger Regina Voglauer

Impaired DNA damage repair, especially deficient transcription-coupled nucleotide excision repair, leads to segmental progeroid syndromes in human patients as well as in rodent models. Furthermore, DNA double-strand break signalling has been pinpointed as a key inducer of cellular senescence. Several recent findings suggest that another DNA repair pathway, interstrand cross-link (ICL) repair, m...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2005
Julia I Toth Shao H Yang Xin Qiao Anne P Beigneux Michael H Gelb Casey L Moulson Jeffrey H Miner Stephen G Young Loren G Fong

Defects in the biogenesis of lamin A from its farnesylated precursor, prelamin A, lead to the accumulation of prelamin A at the nuclear envelope, cause misshapen nuclei, and result in progeroid syndromes. A deficiency in ZMPSTE24, a protease involved in prelamin A processing, leads to prelamin A accumulation, an absence of mature lamin A, misshapen nuclei, and a lethal perinatal progeroid syndr...

2014
Marta Seco-Cervera Marta Spis José Luis García-Giménez José Santiago Ibañez-Cabellos Ana Velázquez-Ledesma Isabel Esmorís Sergio Bañuls Giselle Pérez-Machado Federico V Pallardó

Werner Syndrome (WS, ICD-10 E34.8, ORPHA902) and Atypical Werner Syndrome (AWS, ICD-10 E34.8, ORPHA79474) are very rare inherited syndromes characterized by premature aging. While approximately 90% of WS individuals have any of a range of mutations in theWRN gene, there exists a clinical subgroup in which the mutation occurs in the LMNA/C gene in heterozygosity. Although both syndromes exhibit ...

2007
Johannes Grillari Hermann Katinger Regina Voglauer

Impaired DNA damage repair, especially deficient transcription-coupled nucleotide excision repair, leads to segmental progeroid syndromes in human patients as well as in rodent models. Furthermore, DNA double-strand break signalling has been pinpointed as a key inducer of cellular senescence. Several recent findings suggest that another DNA repair pathway, interstrand cross-link (ICL) repair, m...

Journal: :Frontiers in Immunology 2023

Scleroderma-like cutaneous lesions have been found in many pathological conditions and they the clinical appearance of sclerotic or scleroatrophic lesions. Affected skin biopsies described histopathological changes similar to those scleroderma located strictly on systemic sclerosis. These can be inflammatory diseases with autoimmune substrate (generalized morphea, chronic graft versus host dise...

Journal: :PLoS Genetics 2008
Björn Schumacher Ingrid van der Pluijm Michael J. Moorhouse Theodore Kosteas Andria Rasile Robinson Yousin Suh Timo M. Breit Harry van Steeg Laura J. Niedernhofer Wilfred van IJcken Andrzej Bartke Stephen R. Spindler Jan H. J. Hoeijmakers Gijsbertus T. J. van der Horst George A. Garinis

Mutant dwarf and calorie-restricted mice benefit from healthy aging and unusually long lifespan. In contrast, mouse models for DNA repair-deficient progeroid syndromes age and die prematurely. To identify mechanisms that regulate mammalian longevity, we quantified the parallels between the genome-wide liver expression profiles of mice with those two extremes of lifespan. Contrary to expectation...

2012
Fernando G. Osorio Carlos López-Otín José M. P. Freije

consequence of a stochastic process caused by the accumulative effect of damaged molecules. However, recent experimental evidences have extended this view and suggested that aging also requires active signaling programs for the maintenance of the aged state [1]. Beyond cell-autonomous alterations, age signals get systemic through changes in intercellular communication pathways [2]. The identifi...

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