نتایج جستجو برای: neonatal progeroid syndrome

تعداد نتایج: 695789  

2005
STEFANO CAMPI PAOLO GRONCHI

This paper deals with inequalities for the volume of a convex body and the volume of the projection body, the L-centroid body, and their polars. Examples are the Blaschke-Santaló inequality, the Petty and Zhang projection inequalities, the Busemann-Petty inequality. Other inequalities of the same type are still at the stage of conjectures. The use of special continuous movements of convex bodie...

2016
Mari Tokita Scott R. Kennedy Rosa Ana Risques Stephen G. Chun Colin Pritchard Junko Oshima Yan Liu Peter K. Bryant-Greenwood Piri Welcsh Raymond J. Monnat

Werner syndrome (WS) is the canonical adult human progeroid ('premature aging') syndrome. Patients with this autosomal recessive Mendelian disorder display constitutional genomic instability and an elevated risk of important age-associated diseases including cancer. Remarkably few analyses of WS patient tissue and tumors have been performed to provide insight into WS disease pathogenesis or the...

Journal: :Journal of medical genetics 1994
O Bartsch K D Tympner E Schwinger R J Gorlin

We report a 20 year old man with short stature, microcephaly, unusual facies, numerous pigmented naevi, hypodontia, immunodeficiency, and a high pitched voice. Tympner et al had assumed that the patient had a new syndrome of "progressive combined immunodeficiency and ectomesodermal dysplasia". We show here that the condition is identical to the Mulvihill-Smith syndrome (McKusick 176690), a prog...

Progeroid syndromes, one of which is metageria, are characterized by signs of premature aging with multiple systemic and skin symptoms. Here we describe an 8-year-old girl with no historyof specific underlying disease in her family, no hair growth at the scalp since she was born, and taller and thinner than her peers. We noticed diffuse subcutaneous fat atrophy. The patientwas refer...

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...

2013
Lolita S. Nidadavolu Laura J. Niedernhofer Saleem A. Khan

XFE progeroid syndrome, a disease of accelerated aging caused by deficiency in the DNA repair endonuclease XPF-ERCC1, is modeled by Ercc1 knockout and hypomorphic mice. Tissues and primary cells from these mice senesce prematurely, offering a unique opportunity to identify factors that regulate senescence and aging. We compared microRNA (miRNA) expression in Ercc1-/- primary mouse embryonic fib...

Journal: :American journal of human genetics 2007
Nicolaas G J Jaspers Anja Raams Margherita Cirillo Silengo Nils Wijgers Laura J Niedernhofer Andria Rasile Robinson Giuseppina Giglia-Mari Deborah Hoogstraten Wim J Kleijer Jan H J Hoeijmakers Wim Vermeulen

Nucleotide excision repair (NER) is a genome caretaker mechanism responsible for removing helix-distorting DNA lesions, most notably ultraviolet photodimers. Inherited defects in NER result in profound photosensitivity and the cancer-prone syndrome xeroderma pigmentosum (XP) or two progeroid syndromes: Cockayne and trichothiodystrophy syndromes. The heterodimer ERCC1-XPF is one of two endonucle...

Journal: :Cancer research 2000
M J Moser W L Bigbee S G Grant M J Emond R G Langlois R H Jensen J Oshima R J Monnat

Werner syndrome (WRN) is an uncommon autosomal recessive disease in which progeroid features are associated with genetic instability and an elevated risk of neoplasia. We have used the glycophorin A (GPA) somatic cell mutation assay to analyze genetic instability in vivo in WRN patients and heterozygotes. GPA variant frequencies were determined for 11 WRN patients and for 10 heterozygous family...

2015
Tiphaine Goletto Flora Crockett Selim Aractingi Cecile Toper Patricia Senet Jacques Cadranel Jean-Marc Naccache

Werner syndrome (WS) is a progeroid or premature aging syndrome characterized by early onset of age-related pathologies and cancer. The average life expectancy of affected people is 52.8 years and tends to increase. The major causes of death are malignancy and myocardial infarction. Increased telomere attrition and decay are thought to play a causative role in the clinical and pathological mani...

Journal: :Molecular syndromology 2010
B Saha D Lessel F M Hisama D F Leistritz K Friedrich G M Martin C Kubisch J Oshima

Dunnigan-type partial lipodystrophy (familial partial lipodystrophy, Dunnigan variety, FPLD2) can be caused by LMNA mutations. We identified a novel heterozygous LMNA mutation, P485R, in a patient referred to the International Registry of Werner Syndrome because of features consistent with that of progeroid disorder but who was wild type at the WRN locus. The novel mutation is located 2 amino a...

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