Atherosclerosis and cardiovascular diseases in progeroid syndromes

H Kato, Y Maezawa - Journal of Atherosclerosis and Thrombosis, 2022 - jstage.jst.go.jp
Hutchinson–Gilford progeria syndrome (HGPS) and Werner syndrome (WS) are two of the
representative genetic progeroid syndromes and have been widely studied in the field of …

[HTML][HTML] Response to Replication Stress and Maintenance of Genome Stability by WRN, the Werner Syndrome Protein

DK Orren, A Machwe - International Journal of Molecular Sciences, 2024 - mdpi.com
Werner syndrome (WS) is an autosomal recessive disease caused by loss of function of
WRN. WS is a segmental progeroid disease and shows early onset or increased frequency …

CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures

F Sargolzaeiaval, J Zhang, J Schleit… - … Genetics & Genomic …, 2018 - Wiley Online Library
Background Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is an
autosomal recessive disorder caused by pathogenic variants of the conserved telomere …

[HTML][HTML] Lifetime extension and the recent cause of death in Werner syndrome: a retrospective study from 2011 to 2020

H Kato, M Koshizaka, H Kaneko, Y Maezawa… - Orphanet journal of rare …, 2022 - Springer
Background Werner syndrome (WS) is an autosomal recessive premature ageing disease
that causes accelerated ageing-like symptoms after puberty. Previous studies conducted in …

[HTML][HTML] A case report of Werner's syndrome with a novel mutation from India

A Singh, S Ganguly, N Chhabra, H Yadav, J Oshima - Cureus, 2020 - ncbi.nlm.nih.gov
Werner's syndrome (WS) or progeria adultorum is a heritable autosomal recessive disease
in which the aging process is accelerated, just after puberty. It is caused by mutations in the …

Adult progeria: a new mutation in the WRN gene

ML Rocha, AT Chicharo, G Sequeira… - BMJ Case Reports …, 2022 - casereports.bmj.com
Werner syndrome (WS), also known as adult progeria, is a rare autosomal recessive
inherited progeroid syndrome characterised by multiple features consistent with accelerated …

Weaver Syndrome

D Liu - Handbook of Tumor Syndromes, 2020 - taylorfrancis.com
Weaver syndrome is a congenital overgrowth disorder that often displays tall stature,
dysmorphic facial features (hypertelorism, broad forehead, almond-shaped eyes, pointed …