Article
Patient-derived iPSCs link elevated mitochondrial respiratory complex I function to osteosarcoma in Rothmund-Thomson syndrome.
PLoS genetics - 1 Dec 2021
Jewell Brittany E, Xu An, Zhu Dandan, Huang Mo-Fan, Lu Linchao, Liu Mo, Underwood Erica L, Park Jun Hyoung, Fan Huihui, Gingold Julian A, Zhou Ruoji, Tu Jian, Huo Zijun, Liu Ying, Jin Weidong, Chen Yi-Hung, Xu Yitian, Chen Shu-Hsia, Rainusso Nino, Berg Nathaniel K, Bazer Danielle A, Vellano Christopher, Jones Philip, Eltzschig Holger K, Zhao Zhongming, Kaipparettu Benny Abraham, Zhao Ruiying, Wang Lisa L, Lee Dung-Fang
Abstract excerpt
Rothmund-Thomson syndrome (RTS) is an autosomal recessive genetic disorder characterized by poikiloderma, small stature, skeletal anomalies, sparse brows/lashes, cataracts, and predisposition to cancer. Type 2 RTS patients with biallelic RECQL4 pathogenic variants have multiple skeletal anomalies and a significantly increased incidence of osteosarcoma. Here, we generated RTS patient-derived induced pluripotent...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.