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Items: 1 to 20 of 129

1.

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. Epub 2002 Sep 23.

PMID:
12355089
2.

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. Epub 2005 Jun 22.

PMID:
15972725
3.

Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally.

Desir J, Cassart M, David P, Van Bogaert P, Abramowicz M.

Am J Med Genet A. 2008 Jun 1;146A(11):1439-43. doi: 10.1002/ajmg.a.32312.

PMID:
18452193
4.

Novel protein-truncating mutations in the ASPM gene in families with autosomal recessive primary microcephaly.

Gul A, Tariq M, Khan MN, Hassan MJ, Ali G, Ahmad W.

J Neurogenet. 2007 Jul-Sep;21(3):153-63.

PMID:
17849285
5.

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. Epub 2009 Dec 2. Review.

PMID:
19931588
6.

Protein-truncating mutations in ASPM cause variable reduction in brain size.

Bond J, Scott S, Hampshire DJ, Springell K, Corry P, Abramowicz MJ, Mochida GH, Hennekam RC, Maher ER, Fryns JP, Alswaid A, Jafri H, Rashid Y, Mubaidin A, Walsh CA, Roberts E, Woods CG.

Am J Hum Genet. 2003 Nov;73(5):1170-7. Epub 2003 Oct 21.

7.

Mutations in mouse Aspm (abnormal spindle-like microcephaly associated) cause not only microcephaly but also major defects in the germline.

Pulvers JN, Bryk J, Fish JL, Wilsch-Bräuninger M, Arai Y, Schreier D, Naumann R, Helppi J, Habermann B, Vogt J, Nitsch R, Tóth A, Enard W, Pääbo S, Huttner WB.

Proc Natl Acad Sci U S A. 2010 Sep 21;107(38):16595-600. doi: 10.1073/pnas.1010494107. Epub 2010 Sep 7.

8.

Positive selection in ASPM is correlated with cerebral cortex evolution across primates but not with whole-brain size.

Ali F, Meier R.

Mol Biol Evol. 2008 Nov;25(11):2247-50. doi: 10.1093/molbev/msn184. Epub 2008 Aug 21.

PMID:
18718919
9.

Compound heterozygous ASPM mutations in Pakistani MCPH families.

Muhammad F, Mahmood Baig S, Hansen L, Sajid Hussain M, Anjum Inayat I, Aslam M, Anver Qureshi J, Toilat M, Kirst E, Wajid M, Nürnberg P, Eiberg H, Tommerup N, Kjaer KW.

Am J Med Genet A. 2009 May;149A(5):926-30. doi: 10.1002/ajmg.a.32749.

PMID:
19353628
10.

Adaptive evolution of ASPM, a major determinant of cerebral cortical size in humans.

Evans PD, Anderson JR, Vallender EJ, Gilbert SL, Malcom CM, Dorus S, Lahn BT.

Hum Mol Genet. 2004 Mar 1;13(5):489-94. Epub 2004 Jan 13.

PMID:
14722158
11.

Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly.

Kousar R, Nawaz H, Khurshid M, Ali G, Khan SU, Mir H, Ayub M, Wali A, Ali N, Jelani M, Basit S, Ahmad W, Ansar M.

J Child Neurol. 2010 Jun;25(6):715-20. doi: 10.1177/0883073809346850. Epub 2009 Oct 6.

PMID:
19808985
12.

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. Epub 2010 Oct 20.

PMID:
20961963
13.

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.

14.

Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene.

Gul A, Hassan MJ, Mahmood S, Chen W, Rahmani S, Naseer MI, Dellefave L, Muhammad N, Rafiq MA, Ansar M, Chishti MS, Ali G, Siddique T, Ahmad W.

Neurogenetics. 2006 May;7(2):105-10. Epub 2006 Apr 21.

PMID:
16673149
15.

[Molecular genetics of lissencephaly and microcephaly].

Mochida GH.

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

PMID:
18421985
16.

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. Epub 2005 Mar 27. Erratum in: Nat Genet. 2005 May;37(5):555. Lizarraga, Sophia [corrected to Lizarraga, Sofia B].

PMID:
15793586
17.

Expression of IQ-motif genes in human cells and ASPM domain structure.

Rhoads A, Kenguele H.

Ethn Dis. 2005 Autumn;15(4 Suppl 5):S5-88-91.

PMID:
16315386
18.

Expression analysis of the autosomal recessive primary microcephaly genes MCPH1 (microcephalin) and MCPH5 (ASPM, abnormal spindle-like, microcephaly associated) in human malignant gliomas.

Hagemann C, Anacker J, Gerngras S, Kühnel S, Said HM, Patel R, Kämmerer U, Vordermark D, Roosen K, Vince GH.

Oncol Rep. 2008 Aug;20(2):301-8.

PMID:
18636190
19.

Cytoskeletal genes regulating brain size.

Bond J, Woods CG.

Curr Opin Cell Biol. 2006 Feb;18(1):95-101. Epub 2005 Dec 6. Review.

PMID:
16337370
20.

The microcephaly gene aspm is involved in brain development in zebrafish.

Kim HT, Lee MS, Choi JH, Jung JY, Ahn DG, Yeo SY, Choi DK, Kim CH.

Biochem Biophys Res Commun. 2011 Jun 17;409(4):640-4. doi: 10.1016/j.bbrc.2011.05.056. Epub 2011 May 17.

PMID:
21620798

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