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Items: 1 to 20 of 101

1.

Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency.

Gineau L, Cognet C, Kara N, Lach FP, Dunne J, Veturi U, Picard C, Trouillet C, Eidenschenk C, Aoufouchi S, Alcaïs A, Smith O, Geissmann F, Feighery C, Abel L, Smogorzewska A, Stillman B, Vivier E, Casanova JL, Jouanguy E.

J Clin Invest. 2012 Mar;122(3):821-32. doi: 10.1172/JCI61014.

2.

Unraveling human natural killer cell deficiency.

Orange JS.

J Clin Invest. 2012 Mar;122(3):798-801. doi: 10.1172/JCI62620.

3.

MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans.

Hughes CR, Guasti L, Meimaridou E, Chuang CH, Schimenti JC, King PJ, Costigan C, Clark AJ, Metherell LA.

J Clin Invest. 2012 Mar;122(3):814-20. doi: 10.1172/JCI60224.

4.

Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair.

Casey JP, Nobbs M, McGettigan P, Lynch S, Ennis S.

J Med Genet. 2012 Apr;49(4):242-5. doi: 10.1136/jmedgenet-2012-100803.

PMID:
22499342
5.

Post-transcriptional homeostasis and regulation of MCM2-7 in mammalian cells.

Chuang CH, Yang D, Bai G, Freeland A, Pruitt SC, Schimenti JC.

Nucleic Acids Res. 2012 Jun;40(11):4914-24. doi: 10.1093/nar/gks176.

6.

Genetic screen for chromosome instability in mice: Mcm4 and breast cancer.

Shima N, Buske TR, Schimenti JC.

Cell Cycle. 2007 May 15;6(10):1135-40.

PMID:
17495541
7.

Dbf4 and Cdc7 proteins promote DNA replication through interactions with distinct Mcm2-7 protein subunits.

Ramer MD, Suman ES, Richter H, Stanger K, Spranger M, Bieberstein N, Duncker BP.

J Biol Chem. 2013 May 24;288(21):14926-35. doi: 10.1074/jbc.M112.392910.

8.

Cdt1 forms a complex with the minichromosome maintenance protein (MCM) and activates its helicase activity.

You Z, Masai H.

J Biol Chem. 2008 Sep 5;283(36):24469-77. doi: 10.1074/jbc.M803212200.

9.

Biochemical analysis of the intrinsic Mcm4-Mcm6-mcm7 DNA helicase activity.

You Z, Komamura Y, Ishimi Y.

Mol Cell Biol. 1999 Dec;19(12):8003-15.

10.

Identification and characterization of a novel component of the human minichromosome maintenance complex.

Sakwe AM, Nguyen T, Athanasopoulos V, Shire K, Frappier L.

Mol Cell Biol. 2007 Apr;27(8):3044-55.

11.

Ex vivo generated natural killer cells acquire typical natural killer receptors and display a cytotoxic gene expression profile similar to peripheral blood natural killer cells.

Lehmann D, Spanholtz J, Osl M, Tordoir M, Lipnik K, Bilban M, Schlechta B, Dolstra H, Hofer E.

Stem Cells Dev. 2012 Nov 1;21(16):2926-38. doi: 10.1089/scd.2011.0659.

13.

A dominantly acting murine allele of Mcm4 causes chromosomal abnormalities and promotes tumorigenesis.

Bagley BN, Keane TM, Maklakova VI, Marshall JG, Lester RA, Cancel MM, Paulsen AR, Bendzick LE, Been RA, Kogan SC, Cormier RT, Kendziorski C, Adams DJ, Collier LS.

PLoS Genet. 2012;8(11):e1003034. doi: 10.1371/journal.pgen.1003034.

14.

Effect of an MCM4 mutation that causes tumours in mouse on human MCM4/6/7 complex formation.

Watanabe E, Ohara R, Ishimi Y.

J Biochem. 2012 Aug;152(2):191-8. doi: 10.1093/jb/mvs060.

PMID:
22668557
15.

G364R mutation of MCM4 detected in human skin cancer cells affects DNA helicase activity of MCM4/6/7 complex.

Ishimi Y, Irie D.

J Biochem. 2015 Jun;157(6):561-9. doi: 10.1093/jb/mvv015.

PMID:
25661590
16.

A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD).

Jazayeri O, Liu X, van Diemen CC, Bakker-van Waarde WM, Sikkema-Raddatz B, Sinke RJ, Zhang J, van Ravenswaaij-Arts CM.

Eur J Med Genet. 2015 Dec;58(12):642-9. doi: 10.1016/j.ejmg.2015.11.001. Review.

PMID:
26548497
17.

A viable allele of Mcm4 causes chromosome instability and mammary adenocarcinomas in mice.

Shima N, Alcaraz A, Liachko I, Buske TR, Andrews CA, Munroe RJ, Hartford SA, Tye BK, Schimenti JC.

Nat Genet. 2007 Jan;39(1):93-8.

PMID:
17143284
18.

Deregulation of cyclin E in human cells interferes with prereplication complex assembly.

Ekholm-Reed S, Méndez J, Tedesco D, Zetterberg A, Stillman B, Reed SI.

J Cell Biol. 2004 Jun 21;165(6):789-800.

19.

Human natural killer cell maturation defect supports in vivo CD56(bright) to CD56(dim) lineage development.

Domaica CI, Fuertes MB, Uriarte I, Girart MV, Sardañons J, Comas DI, Di Giovanni D, Gaillard MI, Bezrodnik L, Zwirner NW.

PLoS One. 2012;7(12):e51677. doi: 10.1371/journal.pone.0051677.

20.

Characterization of cord blood natural killer and lymphokine activated killer lymphocytes following ex vivo cellular engineering.

Ayello J, van de Ven C, Fortino W, Wade-Harris C, Satwani P, Baxi L, Simpson LL, Sanger W, Pickering D, Kurtzberg J, Cairo MS.

Biol Blood Marrow Transplant. 2006 Jun;12(6):608-22.

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