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Items: 1 to 20 of 135

1.

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.

Bond J, Roberts E, Springell K, Lizarraga SB, Scott S, Higgins J, Hampshire DJ, Morrison EE, Leal GF, Silva EO, Costa SM, Baralle D, Raponi M, Karbani G, Rashid Y, Jafri H, Bennett C, Corry P, Walsh CA, Woods CG.

Nat Genet. 2005 Apr;37(4):353-5. Erratum in: Nat Genet. 2005 May;37(5):555. Lizarraga, Sophia [corrected to Lizarraga, Sofia B].

PMID:
15793586
2.

Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly.

Kumar A, Girimaji SC, Duvvari MR, Blanton SH.

Am J Hum Genet. 2009 Feb;84(2):286-90. doi: 10.1016/j.ajhg.2009.01.017.

3.

Molecular evolution of the brain size regulator genes CDK5RAP2 and CENPJ.

Evans PD, Vallender EJ, Lahn BT.

Gene. 2006 Jun 21;375:75-9.

PMID:
16631324
4.

Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation.

Issa L, Mueller K, Seufert K, Kraemer N, Rosenkotter H, Ninnemann O, Buob M, Kaindl AM, Morris-Rosendahl DJ.

Orphanet J Rare Dis. 2013 Apr 15;8:59. doi: 10.1186/1750-1172-8-59.

5.

Cytoskeletal genes regulating brain size.

Bond J, Woods CG.

Curr Opin Cell Biol. 2006 Feb;18(1):95-101. Review.

PMID:
16337370
6.

[Molecular genetics of lissencephaly and microcephaly].

Mochida GH.

Brain Nerve. 2008 Apr;60(4):437-44. Review. Japanese.

PMID:
18421985
7.

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.

Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, Ekici AB, van Essen AJ, Goecke TO, Al-Gazali L, Chrzanowska KH, Zweier C, Brunner HG, Becker K, Curry CJ, Dallapiccola B, Devriendt K, Dörfler A, Kinning E, Megarbane A, Meinecke P, Semple RK, Spranger S, Toutain A, Trembath RC, Voss E, Wilson L, Hennekam R, de Zegher F, Dörr HG, Reis A.

Science. 2008 Feb 8;319(5864):816-9. doi: 10.1126/science.1151174.

8.

Interaction of CDK5RAP2 with EB1 to track growing microtubule tips and to regulate microtubule dynamics.

Fong KW, Hau SY, Kho YS, Jia Y, He L, Qi RZ.

Mol Biol Cell. 2009 Aug;20(16):3660-70. doi: 10.1091/mbc.E09-01-0009.

9.

Adaptive evolution of four microcephaly genes and the evolution of brain size in anthropoid primates.

Montgomery SH, Capellini I, Venditti C, Barton RA, Mundy NI.

Mol Biol Evol. 2011 Jan;28(1):625-38. doi: 10.1093/molbev/msq237.

PMID:
20961963
10.

Cdk5rap2 interacts with pericentrin to maintain the neural progenitor pool in the developing neocortex.

Buchman JJ, Tseng HC, Zhou Y, Frank CL, Xie Z, Tsai LH.

Neuron. 2010 May 13;66(3):386-402. doi: 10.1016/j.neuron.2010.03.036.

11.

Cdk5rap2 exposes the centrosomal root of microcephaly syndromes.

Megraw TL, Sharkey JT, Nowakowski RS.

Trends Cell Biol. 2011 Aug;21(8):470-80. doi: 10.1016/j.tcb.2011.04.007. Review.

12.

Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors.

Lizarraga SB, Margossian SP, Harris MH, Campagna DR, Han AP, Blevins S, Mudbhary R, Barker JE, Walsh CA, Fleming MD.

Development. 2010 Jun;137(11):1907-17. doi: 10.1242/dev.040410.

13.

A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly.

Gul A, Hassan MJ, Hussain S, Raza SI, Chishti MS, Ahmad W.

J Hum Genet. 2006;51(9):760-4.

PMID:
16900296
14.

ASPM is a major determinant of cerebral cortical size.

Bond J, Roberts E, Mochida GH, Hampshire DJ, Scott S, Askham JM, Springell K, Mahadevan M, Crow YJ, Markham AF, Walsh CA, Woods CG.

Nat Genet. 2002 Oct;32(2):316-20.

PMID:
12355089
15.

Many roads lead to primary autosomal recessive microcephaly.

Kaindl AM, Passemard S, Kumar P, Kraemer N, Issa L, Zwirner A, Gerard B, Verloes A, Mani S, Gressens P.

Prog Neurobiol. 2010 Mar;90(3):363-83. doi: 10.1016/j.pneurobio.2009.11.002. Review.

PMID:
19931588
16.

The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein.

Kouprina N, Pavlicek A, Collins NK, Nakano M, Noskov VN, Ohzeki J, Mochida GH, Risinger JI, Goldsmith P, Gunsior M, Solomon G, Gersch W, Kim JH, Barrett JC, Walsh CA, Jurka J, Masumoto H, Larionov V.

Hum Mol Genet. 2005 Aug 1;14(15):2155-65.

PMID:
15972725
17.

What primary microcephaly can tell us about brain growth.

Cox J, Jackson AP, Bond J, Woods CG.

Trends Mol Med. 2006 Aug;12(8):358-66. Review.

PMID:
16829198
18.

Kinetochore KMN network gene CASC5 mutated in primary microcephaly.

Genin A, Desir J, Lambert N, Biervliet M, Van Der Aa N, Pierquin G, Killian A, Tosi M, Urbina M, Lefort A, Libert F, Pirson I, Abramowicz M.

Hum Mol Genet. 2012 Dec 15;21(24):5306-17. doi: 10.1093/hmg/dds386.

PMID:
22983954
19.

Molecular genetic determinants of human brain size.

Tang BL.

Biochem Biophys Res Commun. 2006 Jul 7;345(3):911-6. Review.

PMID:
16716254
20.

Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.

Hassan MJ, Khurshid M, Azeem Z, John P, Ali G, Chishti MS, Ahmad W.

BMC Med Genet. 2007 Sep 1;8:58.

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