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RABL6A promotes G1-S phase progression and pancreatic neuroendocrine tumor cell proliferation in an Rb1-dependent manner.
Hagen J, Muniz VP, Falls KC, Reed SM, Taghiyev AF, Quelle FW, Gourronc FA, Klingelhutz AJ, Major HJ, Askeland RW, Sherman SK, O'Dorisio TM, Bellizzi AM, Howe JR, Darbro BW, Quelle DE. Hagen J, et al. Among authors: major hj. Cancer Res. 2014 Nov 15;74(22):6661-70. doi: 10.1158/0008-5472.CAN-13-3742. Epub 2014 Oct 1. Cancer Res. 2014. PMID: 25273089 Free PMC article.
Candidate modifier genes for immune function in 22q11.2 deletion syndrome.
Pinnaro CT, Henry T, Major HJ, Parida M, DesJardin LE, Manak JR, Darbro BW. Pinnaro CT, et al. Among authors: major hj. Mol Genet Genomic Med. 2020 Jan;8(1):e1057. doi: 10.1002/mgg3.1057. Epub 2019 Dec 12. Mol Genet Genomic Med. 2020. PMID: 31830774 Free PMC article.
RABL6A Is an Essential Driver of MPNSTs that Negatively Regulates the RB1 Pathway and Sensitizes Tumor Cells to CDK4/6 Inhibitors.
Kohlmeyer JL, Kaemmer CA, Pulliam C, Maharjan CK, Samayoa AM, Major HJ, Cornick KE, Knepper-Adrian V, Khanna R, Sieren JC, Leidinger MR, Meyerholz DK, Zamba KD, Weimer JM, Dodd RD, Darbro BW, Tanas MR, Quelle DE. Kohlmeyer JL, et al. Among authors: major hj. Clin Cancer Res. 2020 Jun 15;26(12):2997-3011. doi: 10.1158/1078-0432.CCR-19-2706. Epub 2020 Feb 21. Clin Cancer Res. 2020. PMID: 32086342 Free PMC article.
Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy.
Hildebrand MS, Griffin NG, Damiano JA, Cops EJ, Burgess R, Ozturk E, Jones NC, Leventer RJ, Freeman JL, Harvey AS, Sadleir LG, Scheffer IE, Major H, Darbro BW, Allen AS, Goldstein DB, Kerrigan JF, Berkovic SF, Heinzen EL. Hildebrand MS, et al. Am J Hum Genet. 2016 Aug 4;99(2):423-9. doi: 10.1016/j.ajhg.2016.05.031. Epub 2016 Jul 21. Am J Hum Genet. 2016. PMID: 27453577 Free PMC article.
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.
Green TE, Motelow JE, Bennett MF, Ye Z, Bennett CA, Griffin NG, Damiano JA, Leventer RJ, Freeman JL, Harvey AS, Lockhart PJ, Sadleir LG, Boys A, Scheffer IE, Major H, Darbro BW, Bahlo M, Goldstein DB, Kerrigan JF, Heinzen EL, Berkovic SF, Hildebrand MS. Green TE, et al. Hum Mol Genet. 2022 Jul 21;31(14):2307-2316. doi: 10.1093/hmg/ddab366. Hum Mol Genet. 2022. PMID: 35137044 Free PMC article.
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