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Items: 1 to 20 of 114

1.

Meier-Gorlin syndrome mutations disrupt an Orc1 CDK inhibitory domain and cause centrosome reduplication.

Hossain M, Stillman B.

Genes Dev. 2012 Aug 15;26(16):1797-810. doi: 10.1101/gad.197178.112. Epub 2012 Aug 1.

2.

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
3.

Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome.

Stiff T, Alagoz M, Alcantara D, Outwin E, Brunner HG, Bongers EM, O'Driscoll M, Jeggo PA.

PLoS Genet. 2013;9(3):e1003360. doi: 10.1371/journal.pgen.1003360. Epub 2013 Mar 14.

4.

The BAH domain of ORC1 links H4K20me2 to DNA replication licensing and Meier-Gorlin syndrome.

Kuo AJ, Song J, Cheung P, Ishibe-Murakami S, Yamazoe S, Chen JK, Patel DJ, Gozani O.

Nature. 2012 Mar 7;484(7392):115-9. doi: 10.1038/nature10956.

5.

Orc1 controls centriole and centrosome copy number in human cells.

Hemerly AS, Prasanth SG, Siddiqui K, Stillman B.

Science. 2009 Feb 6;323(5915):789-93. doi: 10.1126/science.1166745.

6.

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.

7.

Drosophila model of Meier-Gorlin syndrome based on the mutation in a conserved C-Terminal domain of Orc6.

Balasov M, Akhmetova K, Chesnokov I.

Am J Med Genet A. 2015 Nov;167A(11):2533-40. doi: 10.1002/ajmg.a.37214. Epub 2015 Jul 2.

PMID:
26139588
8.

The cyclin A centrosomal localization sequence recruits MCM5 and Orc1 to regulate centrosome reduplication.

Ferguson RL, Pascreau G, Maller JL.

J Cell Sci. 2010 Aug 15;123(Pt 16):2743-9. doi: 10.1242/jcs.073098. Epub 2010 Jul 27.

9.

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.

de Munnik SA, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Clayton-Smith J, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Schoots J, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM.

Eur J Hum Genet. 2012 Jun;20(6):598-606. doi: 10.1038/ejhg.2011.269. Epub 2012 Feb 15.

10.

Meier-Gorlin syndrome and Wolf-Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis.

Kerzendorfer C, Colnaghi R, Abramowicz I, Carpenter G, O'Driscoll M.

DNA Repair (Amst). 2013 Aug;12(8):637-44. doi: 10.1016/j.dnarep.2013.04.016. Epub 2013 May 23.

PMID:
23706772
11.

A Meier-Gorlin syndrome mutation impairs the ORC1-nucleosome association.

Zhang W, Sankaran S, Gozani O, Song J.

ACS Chem Biol. 2015 May 15;10(5):1176-80. doi: 10.1021/cb5009684. Epub 2015 Feb 24.

12.

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
13.

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

Burrage LC, Charng WL, Eldomery MK, Willer JR, Davis EE, Lugtenberg D, Zhu W, Leduc MS, Akdemir ZC, Azamian M, Zapata G, Hernandez PP, Schoots J, de Munnik SA, Roepman R, Pearring JN, Jhangiani S, Katsanis N, Vissers LE, Brunner HG, Beaudet AL, Rosenfeld JA, Muzny DM, Gibbs RA, Eng CM, Xia F, Lalani SR, Lupski JR, Bongers EM, Yang Y.

Am J Hum Genet. 2015 Dec 3;97(6):904-13. doi: 10.1016/j.ajhg.2015.11.006.

14.

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.

Fenwick AL, Kliszczak M, Cooper F, Murray J, Sanchez-Pulido L, Twigg SR, Goriely A, McGowan SJ, Miller KA, Taylor IB, Logan C; WGS500 Consortium., Bozdogan S, Danda S, Dixon J, Elsayed SM, Elsobky E, Gardham A, Hoffer MJ, Koopmans M, McDonald-McGinn DM, Santen GW, Savarirayan R, de Silva D, Vanakker O, Wall SA, Wilson LC, Yuregir OO, Zackai EH, Ponting CP, Jackson AP, Wilkie AO, Niedzwiedz W, Bicknell LS.

Am J Hum Genet. 2016 Jul 7;99(1):125-38. doi: 10.1016/j.ajhg.2016.05.019. Epub 2016 Jun 30.

15.

Preventing the degradation of mps1 at centrosomes is sufficient to cause centrosome reduplication in human cells.

Kasbek C, Yang CH, Yusof AM, Chapman HM, Winey M, Fisk HA.

Mol Biol Cell. 2007 Nov;18(11):4457-69. Epub 2007 Sep 5.

16.

Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.

de Munnik SA, Otten BJ, Schoots J, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Borm GF, Clayton-Smith J, Deal CL, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Sluiter AE, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM.

Am J Med Genet A. 2012 Nov;158A(11):2733-42. doi: 10.1002/ajmg.a.35681. Epub 2012 Sep 28.

PMID:
23023959
17.

A Meier-Gorlin syndrome mutation in a conserved C-terminal helix of Orc6 impedes origin recognition complex formation.

Bleichert F, Balasov M, Chesnokov I, Nogales E, Botchan MR, Berger JM.

Elife. 2013 Oct 8;2:e00882. doi: 10.7554/eLife.00882.

18.

MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.

Vetro A, Savasta S, Russo Raucci A, Cerqua C, Sartori G, Limongelli I, Forlino A, Maruelli S, Perucca P, Vergani D, Mazzini G, Mattevi A, Stivala LA, Salviati L, Zuffardi O.

Eur J Hum Genet. 2017 May;25(5):646-650. doi: 10.1038/ejhg.2017.5. Epub 2017 Feb 15.

PMID:
28198391
19.

Further insight into the phenotype associated with a mutation in the ORC6 gene, causing Meier-Gorlin syndrome 3.

Shalev SA, Khayat M, Etty DS, Elpeleg O.

Am J Med Genet A. 2015 Mar;167A(3):607-11. doi: 10.1002/ajmg.a.36906.

PMID:
25691413

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