Mutations of the DNA repair gene PNKP in a patient with microcephaly, seizures, and developmental delay (MCSZ) presenting with a high-grade brain tumor

Autor: Jiang, Bingcheng, Murray, Cameron, Cole, Bonnie L, Glover, JN Mark, Chan, Gordon K, Deschenes, Jean, Mani, Rajam S, Subedi, Sudip, Nerva, John D, Wang, Anthony C, Lockwood, Christina M, Mefford, Heather C, Leary, Sarah ES, Ojemann, Jeffery G, Weinfeld, Michael, Ene, Chibawanye I

Publikováno v: Scientific reports, vol 12, iss 1

Polynucleotide Kinase-Phosphatase (PNKP) is a bifunctional enzyme that possesses both DNA 3'-phosphatase and DNA 5'-kinase activities, which are required for processing termini of single- and double-strand breaks generated by reactive oxygen species

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::5fa0d5e88d4a3fdb7b7df4b5019d1ba4
https://escholarship.org/uc/item/2759h9tq

Everolimus improves the efficacy of dasatinib in PDGFRα-driven glioma.

Autor: Miklja Z; Department of Pediatrics., Yadav VN; Department of Pediatrics., Cartaxo RT; Department of Pediatrics., Siada R; Department of Pediatrics., Thomas CC; Department of Pediatrics., Cummings JR; Department of Pediatrics., Mullan B; Department of Pediatrics., Stallard S; Department of Pediatrics., Paul A; Department of Pediatrics., Bruzek AK; Department of Neurosurgery., Wierzbicki K; Department of Pediatrics., Yang T; Department of Neurology., Garcia T; Department of Pediatrics., Wolfe I; Department of Pediatrics., Leonard M; Department of Pediatrics., Robertson PL; Department of Neurology., Garton HJ; Department of Neurosurgery., Wahl DR; Department of Radiation Oncology, and., Parmar H; Department of Radiology, Michigan Medicine, Ann Arbor, Michigan, USA., Sarkaria JN; Department of Oncology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA., Kline C; Department of Pediatrics and.; Department of Neurology, UCSF, San Francisco, California, USA., Mueller S; Department of Pediatrics and.; Department of Neurology, UCSF, San Francisco, California, USA., Nicolaides T; Division of Pediatric Hematology/Oncology, NYU Langone Medical Center, New York, New York, USA., Glasser C; Division of Pediatric Hematology/Oncology, NYU Winthrop Hospital, Mineola, New York, USA., Leary SE; Seattle Children's Hospital/University of Washington (UW), Seattle, Washington, USA., Venneti S; Department of Pathology., Kumar-Sinha C; Department of Pathology.; Department of Urology., Chinnaiyan AM; Department of Pathology.; Department of Urology.; Michigan Center for Translational Pathology.; Howard Hughes Medical Institute.; Rogel Cancer Center, and., Mody R; Department of Pediatrics., Pai MP; College of Pharmacy, Michigan Medicine, Ann Arbor, Michigan, USA., Phoenix TN; University of Cincinnati College of Pharmacy, Cincinnati, Ohio, USA., Marini BL; College of Pharmacy, Michigan Medicine, Ann Arbor, Michigan, USA., Koschmann C; Department of Pediatrics.

Publikováno v: The Journal of clinical investigation [J Clin Invest] 2020 Oct 01; Vol. 130 (10), pp. 5313-5325.