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Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation.
Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A. Caballero M, et al. Among authors: mace em. Hum Mol Genet. 2022 Aug 25;31(17):2899-2917. doi: 10.1093/hmg/ddac082. Hum Mol Genet. 2022. PMID: 35394024 Free PMC article.
Human NK cell deficiency as a result of biallelic mutations in MCM10.
Mace EM, Paust S, Conte MI, Baxley RM, Schmit MM, Patil SL, Guilz NC, Mukherjee M, Pezzi AE, Chmielowiec J, Tatineni S, Chinn IK, Akdemir ZC, Jhangiani SN, Muzny DM, Stray-Pedersen A, Bradley RE, Moody M, Connor PP, Heaps AG, Steward C, Banerjee PP, Gibbs RA, Borowiak M, Lupski JR, Jolles S, Bielinsky AK, Orange JS. Mace EM, et al. J Clin Invest. 2020 Oct 1;130(10):5272-5286. doi: 10.1172/JCI134966. J Clin Invest. 2020. PMID: 32865517 Free PMC article.
Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening.
Baxley RM, Leung W, Schmit MM, Matson JP, Yin L, Oram MK, Wang L, Taylor J, Hedberg J, Rogers CB, Harvey AJ, Basu D, Taylor JC, Pagnamenta AT, Dreau H, Craft J, Ormondroyd E, Watkins H, Hendrickson EA, Mace EM, Orange JS, Aihara H, Stewart GS, Blair E, Cook JG, Bielinsky AK. Baxley RM, et al. Among authors: mace em. Nat Commun. 2021 Mar 12;12(1):1626. doi: 10.1038/s41467-021-21878-x. Nat Commun. 2021. PMID: 33712616 Free PMC article.
Diversity of peripheral blood human NK cells identified by single-cell RNA sequencing.
Smith SL, Kennedy PR, Stacey KB, Worboys JD, Yarwood A, Seo S, Solloa EH, Mistretta B, Chatterjee SS, Gunaratne P, Allette K, Wang YC, Smith ML, Sebra R, Mace EM, Horowitz A, Thomson W, Martin P, Eyre S, Davis DM. Smith SL, et al. Among authors: mace em. Blood Adv. 2020 Apr 14;4(7):1388-1406. doi: 10.1182/bloodadvances.2019000699. Blood Adv. 2020. PMID: 32271902 Free PMC article.
Genome-wide analyses and functional profiling of human NK cell lines.
Gunesch JT, Angelo LS, Mahapatra S, Deering RP, Kowalko JE, Sleiman P, Tobias JW, Monaco-Shawver L, Orange JS, Mace EM. Gunesch JT, et al. Among authors: mace em. Mol Immunol. 2019 Nov;115:64-75. doi: 10.1016/j.molimm.2018.07.015. Epub 2018 Jul 24. Mol Immunol. 2019. PMID: 30054012 Free PMC article.
Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia.
Conte MI, Poli MC, Taglialatela A, Leuzzi G, Chinn IK, Salinas SA, Rey-Jurado E, Olivares N, Veramendi-Espinoza L, Ciccia A, Lupski JR, Aldave Becerra JC, Mace EM, Orange JS. Conte MI, et al. Among authors: mace em. JCI Insight. 2022 Nov 8;7(21):e154948. doi: 10.1172/jci.insight.154948. JCI Insight. 2022. PMID: 36345943 Free PMC article.
138 results