Patient-derived iPSCs link elevated mitochondrial respiratory complex I function to osteosarcoma in Rothmund-Thomson syndrome

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 an...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8716051/
https://www.ncbi.nlm.nih.gov/pubmed/34965247
http://dx.doi.org/10.1371/journal.pgen.1009971

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