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Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism.
Yap P, Riley LG, Kakadia PM, Bohlander SK, Curran B, Rahimi MJ, Alburaiky S, Hayes I, Oppermann H, Print C, Cooper ST, Le Quesne Stabej P. Yap P, et al. Among authors: bohlander sk. Eur J Hum Genet. 2024 Jan;32(1):125-129. doi: 10.1038/s41431-023-01484-9. Epub 2023 Nov 6. Eur J Hum Genet. 2024. PMID: 37926713 Free PMC article.
DNA Repair and Chromosomal Translocations.
Bohlander SK, Kakadia PM. Bohlander SK, et al. Recent Results Cancer Res. 2015;200:1-37. doi: 10.1007/978-3-319-20291-4_1. Recent Results Cancer Res. 2015. PMID: 26376870 Review.
Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.
Garbes L, Kim K, Rieß A, Hoyer-Kuhn H, Beleggia F, Bevot A, Kim MJ, Huh YH, Kweon HS, Savarirayan R, Amor D, Kakadia PM, Lindig T, Kagan KO, Becker J, Boyadjiev SA, Wollnik B, Semler O, Bohlander SK, Kim J, Netzer C. Garbes L, et al. Among authors: bohlander sk. Am J Hum Genet. 2015 Mar 5;96(3):432-9. doi: 10.1016/j.ajhg.2015.01.002. Epub 2015 Feb 12. Am J Hum Genet. 2015. PMID: 25683121 Free PMC article.
Functional CRISPR and shRNA Screens Identify Involvement of Mitochondrial Electron Transport in the Activation of Evofosfamide.
Hunter FW, Devaux JBL, Meng F, Hong CR, Khan A, Tsai P, Ketela TW, Sharma I, Kakadia PM, Marastoni S, Shalev Z, Hickey AJR, Print CG, Bohlander SK, Hart CP, Wouters BG, Wilson WR. Hunter FW, et al. Among authors: bohlander sk. Mol Pharmacol. 2019 Jun;95(6):638-651. doi: 10.1124/mol.118.115196. Epub 2019 Apr 12. Mol Pharmacol. 2019. PMID: 30979813
Plexin D1 negatively regulates zebrafish lymphatic development.
Britto DD, He J, Misa JP, Chen W, Kakadia PM, Grimm L, Herbert CD, Crosier KE, Crosier PS, Bohlander SK, Hogan BM, Hall CJ, Torres-Vázquez J, Astin JW. Britto DD, et al. Among authors: bohlander sk. Development. 2022 Nov 1;149(21):dev200560. doi: 10.1242/dev.200560. Epub 2022 Oct 24. Development. 2022. PMID: 36205097 Free PMC article.
Contribution of mutant HSC clones to immature and mature cells in MDS and CMML, and variations with AZA therapy.
Schnegg-Kaufmann AS, Thoms JAI, Bhuyan GS, Hampton HR, Vaughan L, Rutherford K, Kakadia PM, Lee HM, Johansson EMV, Failes TW, Arndt GM, Koval J, Lindeman R, Warburton P, Rodriguez-Meira A, Mead AJ, Unnikrishnan A, Davidson S, Polizzotto MN, Hertzberg M, Papaemmanuil E, Bohlander SK, Faridani OR, Jolly CJ, Zanini F, Pimanda JE. Schnegg-Kaufmann AS, et al. Among authors: bohlander sk. Blood. 2023 Mar 16;141(11):1316-1321. doi: 10.1182/blood.2022018602. Blood. 2023. PMID: 36493342 Free PMC article.
An ETV6-ABL1 fusion in a patient with chronic myeloproliferative neoplasm: Initial response to Imatinib followed by rapid transformation into ALL.
Kakadia PM, Schmidmaier R, Völkl A, Schneider I, Huk N, Schneider S, Panzner G, Neidel U, Fritz B, Spiekermann K, Bohlander SK. Kakadia PM, et al. Among authors: bohlander sk. Leuk Res Rep. 2016 Oct 14;6:50-54. doi: 10.1016/j.lrr.2016.09.002. eCollection 2016. Leuk Res Rep. 2016. PMID: 27812500 Free PMC article.
182 results