[HTML][HTML] Abdominal obesity: a marker of ectopic fat accumulation

U Smith - The Journal of clinical investigation, 2015 - Am Soc Clin Investig
In the early 1980s, we analyzed the metabolic profile of 930 men and women and concluded
that an abdominal distribution of fat for a given BMI is associated with increased insulin …

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

K Yokote, S Chanprasert, L Lee, K Eirich… - Human …, 2017 - Wiley Online Library
Werner syndrome (WS) is a rare autosomal recessive disorder characterized by a
constellation of adult onset phenotypes consistent with an acceleration of intrinsic biological …

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

D Lessel, B Vaz, S Halder, PJ Lockhart… - Nature …, 2014 - nature.com
Age-related degenerative and malignant diseases represent major challenges for health
care systems. Elucidation of the molecular mechanisms underlying carcinogenesis and age …

[HTML][HTML] Accelerated epigenetic aging in Werner syndrome

A Maierhofer, J Flunkert, J Oshima, GM Martin… - Aging (Albany …, 2017 - ncbi.nlm.nih.gov
Individuals suffering from Werner syndrome (WS) exhibit many clinical signs of accelerated
aging. While the underlying constitutional mutation leads to accelerated rates of DNA …

Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts

AJ DuBose, ST Lichtenstein… - Proceedings of the …, 2018 - National Acad Sciences
LMNA encodes the A-type lamins that are part of the nuclear scaffold. Mutations in LMNA
can cause a variety of disorders called laminopathies, including Hutchinson-Gilford progeria …

POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome

D Lessel, FM Hisama, K Szakszon, B Saha… - Human …, 2015 - Wiley Online Library
Segmental progeroid syndromes are rare, heterogeneous disorders characterized by signs
of premature aging affecting more than one tissue or organ. A prototypic example is the …

Werner syndrome

J Oshima - Chromosomal Instability and Aging, 2003 - taylorfrancis.com
Until recently, Werner syndrome (WS) had been considered to be a model of accelerated
aging. The Werner gene (WRN) was identified in 1996 (1) and was subsequently shown to …

[HTML][HTML] Association of serum levels of antibodies against MMP1, CBX1, and CBX5 with transient ischemic attack and cerebral infarction

H Wang, XM Zhang, G Tomiyoshi, R Nakamura… - Oncotarget, 2018 - ncbi.nlm.nih.gov
Transient ischemic attack (TIA) is a predictor for cerebral infarction (CI), and early diagnosis
of TIA is extremely important for the prevention of CI. We set out to identify novel antibody …

Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the …

H Sasaki, K Yanagi, S Ugi, K Kobayashi… - Endocrine …, 2018 - jstage.jst.go.jp
Segmental progeroid syndromes with lipodystrophy are extremely rare, heterogeneous, and
complex multi-system disorders that are characterized by phenotypic features of premature …

[HTML][HTML] Partial lipodystrophy, severe dyslipidaemia and insulin resistant diabetes as early signs of Werner syndrome

I Atallah, D McCormick, JM Good, M Barigou… - Journal of clinical …, 2022 - Elsevier
Werner syndrome is a premature ageing disorder caused by biallelic variants in the WRN
gene. WRN encodes a dual DNA helicase/exonuclease enzyme. Molecular diagnosis is …