نتایج جستجو برای: progeroid appearance

تعداد نتایج: 87138  

Journal: :Cell 2005
George M. Martin

Single-gene mutations can produce human progeroid syndromes--phenotypes that mimic usual or "normative" aging. These can be divided into two classes--those that have their impacts upon multiple organs and tissues (segmental progeroid syndromes) and those that have their major impacts upon a single organ or tissue (unimodal progeroid syndromes). The prototypic example of the former is the Werner...

2005
BORIS RUBIN

This question is known as the generalized Busemann-Petty problem. For i = n − 1, the problem was posed by Busemann and Petty [2] in 1956. It has a long history, and the answer is affirmative if and only if n ≤ 4; see [3], [8], [11]. For the generalized Busemann-Petty problem the following statements are known. If i = 2, n = 4, an affirmative answer follows from that in the case i = n − 1. If 3 ...

2014
Takao Oishi Hiroo Imai Yasuhiro Go Masanori Imamura Hirohisa Hirai Masahiko Takada

In our institute, we have recently found a child Japanese monkey who is characterized by deep wrinkles of the skin and cataract of bilateral eyes. Numbers of analyses were performed to identify symptoms representing different aspects of aging. In this monkey, the cell cycle of fibroblasts at early passage was significantly extended as compared to a normal control. Moreover, both the appearance ...

Journal: :Biochemical Society transactions 2011
Fernando G Osorio Alejandro P Ugalde Guillermo Mariño Xose S Puente José M P Freije Carlos López-Otín

Progeroid laminopathies are accelerated aging syndromes caused by defects in nuclear envelope proteins. Accordingly, mutations in the LMNA gene and functionally related genes have been described to cause HGPS (Hutchinson-Gilford progeria syndrome), MAD (mandibuloacral dysplasia) or RD (restrictive dermopathy). Functional studies with animal and cellular models of these syndromes have facilitate...

Journal: :Journal of medical genetics 1997
H Arboleda L Quintero E Yunis

Wiedemann-Rautenstrauch (WR) syndrome is known as a neonatal progeroid syndrome, with only few published case reports. We describe three additional patients, two of them sibs, showing the clinical features of WR syndrome. Skeletal abnormalities are reported and assays of hormones and lipids are presented in one patient. Disturbance in bone maturation and lipid and hormone metabolism appear to b...

2010
Alejandro P. Ugalde Guillermo Mariño Carlos López-Otín

We have recently reported that progeroid Zmpste24-/- mice, which exhibit multiple defects that phenocopy Hutchinson-Gilford progeria syndrome, show a profound dysregulation of somatotropic axis, mainly characterized by the occurrence of very high circulating levels of growth hormone (GH) and a drastic reduction in insulin-like growth factor-1 (IGF-1). We have also shown that restoration of the ...

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...

2016
Yoshikazu Johmura Emiri Yamashita Midori Shimada Keiko Nakanishi Makoto Nakanishi

Susceptibility to senescence caused by defective DNA repair is a major hallmark of progeroid syndrome patients, but molecular mechanisms of how defective DNA repair predisposes to senescence are largely unknown. We demonstrate here that suppression of DNA repair pathways extends the duration of Chk1-dependent G2 checkpoint activation and sensitizes cells to senescence through enhancement of mit...

Journal: :The Journal of clinical investigation 2012
Jeremy S Tilstra Andria R Robinson Jin Wang Siobhán Q Gregg Cheryl L Clauson Daniel P Reay Luigi A Nasto Claudette M St Croix Arvydas Usas Nam Vo Johnny Huard Paula R Clemens Donna B Stolz Denis C Guttridge Simon C Watkins George A Garinis Yinsheng Wang Laura J Niedernhofer Paul D Robbins

The accumulation of cellular damage, including DNA damage, is thought to contribute to aging-related degenerative changes, but how damage drives aging is unknown. XFE progeroid syndrome is a disease of accelerated aging caused by a defect in DNA repair. NF-κB, a transcription factor activated by cellular damage and stress, has increased activity with aging and aging-related chronic diseases. To...

2015
Carlos López-Otín

We have recently defined nine molecular and cellular hallmarks that represent common denominators of aging in different organisms. These hallmarks are: genomic instability, telomere attrition, epigenetic alterations, loss of proteostasis, deregulated nutrient-sensing, mitochondrial dysfunction, cellular senescence, stem cell exhaustion, and altered intercellular communication. On the other hand...

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