Rare genetic diseases in India: Steps toward a nationwide mission program
A Kar, P Sundaravadivel, A Dalal - Journal of Biosciences, 2024 - Springer
Rare genetic diseases are rare by themselves with prevalence of 1 in 25,000, but
collectively they are a significant cause of morbidity and mortality. Till date, collectively there …
collectively they are a significant cause of morbidity and mortality. Till date, collectively there …
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 …
representative genetic progeroid syndromes and have been widely studied in the field of …
The impact of vitamin C on different system models of Werner syndrome
L Aumailley, M Lebel - Antioxidants & Redox Signaling, 2021 - liebertpub.com
Significance: Werner syndrome (WS) is a rare autosomal recessive malady typified by a pro-
oxidant/proinflammatory status, genetic instability, and by the early onset of numerous age …
oxidant/proinflammatory status, genetic instability, and by the early onset of numerous age …
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 …
inherited progeroid syndrome characterised by multiple features consistent with accelerated …
Patogenia das doenças relacionadas ao citoesqueleto: uma revisão da literatura
VF Linartevichi, J Peres… - Brazilian Journal of …, 2021 - ojs.brazilianjournals.com.br
Introdução: O citoesqueleto é responsável por diversas atividades essenciais para o ótimo
funcionamento dos organismos. Isso é possível graças a rede complexa de proteínas …
funcionamento dos organismos. Isso é possível graças a rede complexa de proteínas …
[HTML][HTML] Werner syndrome: A rare cause of young-onset diabetes
ASPDR Monteiro, PV Pavithran… - Journal of …, 2021 - journals.lww.com
A 36-year-old male presented with young-onset diabetes and advanced peripheral vascular
disease. He had a history of bilateral juvenile cataracts and premature aged appearance …
disease. He had a history of bilateral juvenile cataracts and premature aged appearance …