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Items: 1 to 20 of 59

1.

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. Epub 2012 Feb 22.

2.

Human NK cells proliferate and die in vivo more rapidly than T cells in healthy young and elderly adults.

Lutz CT, Karapetyan A, Al-Attar A, Shelton BJ, Holt KJ, Tucker JH, Presnell SR.

J Immunol. 2011 Apr 15;186(8):4590-8. doi: 10.4049/jimmunol.1002732. Epub 2011 Mar 14.

3.

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.

Bicknell LS, Walker S, Klingseisen A, Stiff T, Leitch A, Kerzendorfer C, Martin CA, Yeyati P, Al Sanna N, Bober M, Johnson D, Wise C, Jackson AP, O'Driscoll M, Jeggo PA.

Nat Genet. 2011 Feb 27;43(4):350-5. doi: 10.1038/ng.776.

PMID:
21358633
4.

Mutations in the pre-replication complex cause Meier-Gorlin syndrome.

Bicknell LS, Bongers EM, Leitch A, Brown S, Schoots J, Harley ME, Aftimos S, Al-Aama JY, Bober M, Brown PA, van Bokhoven H, Dean J, Edrees AY, Feingold M, Fryer A, Hoefsloot LH, Kau N, Knoers NV, Mackenzie J, Opitz JM, Sarda P, Ross A, Temple IK, Toutain A, Wise CA, Wright M, Jackson AP.

Nat Genet. 2011 Feb 27;43(4):356-9. doi: 10.1038/ng.775.

5.

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.

Guernsey DL, Matsuoka M, Jiang H, Evans S, Macgillivray C, Nightingale M, Perry S, Ferguson M, LeBlanc M, Paquette J, Patry L, Rideout AL, Thomas A, Orr A, McMaster CR, Michaud JL, Deal C, Langlois S, Superneau DW, Parkash S, Ludman M, Skidmore DL, Samuels ME.

Nat Genet. 2011 Feb 27;43(4):360-4. doi: 10.1038/ng.777.

PMID:
21358631
6.

Innate or adaptive immunity? The example of natural killer cells.

Vivier E, Raulet DH, Moretta A, Caligiuri MA, Zitvogel L, Lanier LL, Yokoyama WM, Ugolini S.

Science. 2011 Jan 7;331(6013):44-9. doi: 10.1126/science.1198687. Review.

7.

C. elegans MCM-4 is a general DNA replication and checkpoint component with an epidermis-specific requirement for growth and viability.

Korzelius J, The I, Ruijtenberg S, Portegijs V, Xu H, Horvitz HR, van den Heuvel S.

Dev Biol. 2011 Feb 15;350(2):358-69. doi: 10.1016/j.ydbio.2010.12.009. Epub 2010 Dec 10.

8.

Natural killer cell education and tolerance.

Orr MT, Lanier LL.

Cell. 2010 Sep 17;142(6):847-56. doi: 10.1016/j.cell.2010.08.031. Review.

9.

CD57 defines a functionally distinct population of mature NK cells in the human CD56dimCD16+ NK-cell subset.

Lopez-Vergès S, Milush JM, Pandey S, York VA, Arakawa-Hoyt J, Pircher H, Norris PJ, Nixon DF, Lanier LL.

Blood. 2010 Nov 11;116(19):3865-74. doi: 10.1182/blood-2010-04-282301. Epub 2010 Aug 23.

10.

Human cytomegalovirus protein pUL117 targets the mini-chromosome maintenance complex and suppresses cellular DNA synthesis.

Qian Z, Leung-Pineda V, Xuan B, Piwnica-Worms H, Yu D.

PLoS Pathog. 2010 Mar 19;6(3):e1000814. doi: 10.1371/journal.ppat.1000814.

11.

The Dbf4-Cdc7 kinase promotes S phase by alleviating an inhibitory activity in Mcm4.

Sheu YJ, Stillman B.

Nature. 2010 Jan 7;463(7277):113-7. doi: 10.1038/nature08647.

12.

CD94 surface density identifies a functional intermediary between the CD56bright and CD56dim human NK-cell subsets.

Yu J, Mao HC, Wei M, Hughes T, Zhang J, Park IK, Liu S, McClory S, Marcucci G, Trotta R, Caligiuri MA.

Blood. 2010 Jan 14;115(2):274-81. doi: 10.1182/blood-2009-04-215491. Epub 2009 Nov 6.

13.

Concerted loading of Mcm2-7 double hexamers around DNA during DNA replication origin licensing.

Remus D, Beuron F, Tolun G, Griffith JD, Morris EP, Diffley JF.

Cell. 2009 Nov 13;139(4):719-30. doi: 10.1016/j.cell.2009.10.015. Epub 2009 Nov 5.

14.

Structural biology of MCM helicases.

Costa A, Onesti S.

Crit Rev Biochem Mol Biol. 2009 Sep-Oct;44(5):326-42. doi: 10.1080/10409230903186012. Review.

PMID:
19780640
15.

Human genetics of infectious diseases: between proof of principle and paradigm.

Alcaïs A, Abel L, Casanova JL.

J Clin Invest. 2009 Sep;119(9):2506-14. doi: 10.1172/JCI38111. Review.

16.

Mcm4 C-terminal domain of MCM helicase prevents excessive formation of single-stranded DNA at stalled replication forks.

Nitani N, Yadani C, Yabuuchi H, Masukata H, Nakagawa T.

Proc Natl Acad Sci U S A. 2008 Sep 2;105(35):12973-8. doi: 10.1073/pnas.0805307105. Epub 2008 Aug 27.

17.

Human natural killer cells.

Caligiuri MA.

Blood. 2008 Aug 1;112(3):461-9. doi: 10.1182/blood-2007-09-077438. Review.

18.

A novel variant of familial glucocorticoid deficiency prevalent among the Irish Traveler population.

O'Riordan SM, Lynch SA, Hindmarsh PC, Chan LF, Clark AJ, Costigan C.

J Clin Endocrinol Metab. 2008 Jul;93(7):2896-9. doi: 10.1210/jc.2008-0034. Epub 2008 Apr 22.

PMID:
18430777
19.

Diagnosis of fanconi anemia by diepoxybutane analysis.

Auerbach AD.

Curr Protoc Hum Genet. 2003 Jul;Chapter 8:Unit 8.7. doi: 10.1002/0471142905.hg0807s37.

PMID:
18428345
20.

Primary immunodeficiencies: a field in its infancy.

Casanova JL, Abel L.

Science. 2007 Aug 3;317(5838):617-9.

PMID:
17673650

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