Orphanet Journal of Rare Diseases 17(1) 226 2022年12月 [査読有り]
Abstract
Background
Werner syndrome (WS) is an autosomal recessive premature ageing disease that causes accelerated ageing-like symptoms after puberty. Previous studies conducted in the late 2000s reported that malignant neoplasms and atherosc...
Das Pradhan A Glynn RJ Fruchart JC MacFadyen JG Zaharris ES Brendan Everett Campbell SE Oshima R Pierre AMARENCO Blom DJ Brinton EA Eckel RH Elam MB Felicio JS Ginsberg HN Goudev A Ishibashi S Joseph J Kodama T Koenig W Leiter LA Lorenzatti AJ Mankovsky B Marx N Nordestgaard BG Páll D Kausik Ray santos RD, Santos R Soran H Susekov A Tendera M Yokote K Paynter NP Buring JE Libby P Ridker PM PROMINENT Investigators
The New England journal of medicine 2022年11月
<h4>Background</h4>High triglyceride levels are associated with increased cardiovascular risk, but whether reductions in these levels would lower the incidence of cardiovascular events is uncertain. Pemafibrate, a selective peroxisome proliferator...
Danny E. Miller Lin Lee Miranda Galey Renuka Kandhaya-Pillai Marc Tischkowitz Deepak Amalnath Avadh Vithlani Koutaro Yokote Hisaya Kato Yoshiro Maezawa Aki Takada-Watanabe Minoru Takemoto George M. Martin Evan E. Eichler Fuki M. Hisama Junko Oshima
Journal of Medical Genetics 59(11) jmedgenet-2022 2022年5月 [査読有り]
Background
Werner syndrome (WS) is an autosomal recessive progeroid syndrome caused by variants in WRN. The International Registry of Werner Syndrome has identified biallelic pathogenic variants in 179/188 cases of classical WS. In the remaining ...
Werner syndrome (WS) is a progeroid syndrome caused by mutations in the WRN gene, which encodes the RecQ type DNA helicase for the unwinding of unusual DNA structures and is implicated in DNA replication, DNA repair, and telomere maintenance. pati...
Journal of Atherosclerosis and Thrombosis 29(4) 439-447 2021年9月 [査読有り][招待有り]
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 aging research. HGPS is a pediatric disease in which premature aging sympto...
大学院国際学術研究院