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Items: 1 to 20 of 163

1.

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.

2.

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
3.

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
4.

Human ASPM participates in spindle organisation, spindle orientation and cytokinesis.

Higgins J, Midgley C, Bergh AM, Bell SM, Askham JM, Roberts E, Binns RK, Sharif SM, Bennett C, Glover DM, Woods CG, Morrison EE, Bond J.

BMC Cell Biol. 2010 Nov 2;11:85. doi: 10.1186/1471-2121-11-85.

5.

Hepatitis C virus NS5A protein down-regulates the expression of spindle gene Aspm through PKR-p38 signaling pathway.

Wu SC, Chang SC, Wu HY, Liao PJ, Chang MF.

J Biol Chem. 2008 Oct 24;283(43):29396-404. doi: 10.1074/jbc.M802821200. Epub 2008 Aug 26.

6.

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
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.
9.

Ionizing radiation downregulates ASPM, a gene responsible for microcephaly in humans.

Fujimori A, Yaoi T, Ogi H, Wang B, Suetomi K, Sekine E, Yu D, Kato T, Takahashi S, Okayasu R, Itoh K, Fushiki S.

Biochem Biophys Res Commun. 2008 May 9;369(3):953-7. doi: 10.1016/j.bbrc.2008.02.149. Epub 2008 Mar 10.

PMID:
18331833
10.

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
11.

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
12.

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
13.

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
14.

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

Passemard S, Titomanlio L, Elmaleh M, Afenjar A, Alessandri JL, Andria G, de Villemeur TB, Boespflug-Tanguy O, Burglen L, Del Giudice E, Guimiot F, Hyon C, Isidor B, Mégarbané A, Moog U, Odent S, Hernandez K, Pouvreau N, Scala I, Schaer M, Gressens P, Gerard B, Verloes A.

Neurology. 2009 Sep 22;73(12):962-9. doi: 10.1212/WNL.0b013e3181b8799a.

PMID:
19770472
15.

Human Gas7 isoforms homologous to mouse transcripts differentially induce neurite outgrowth.

Chao CC, Chang PY, Lu HH.

J Neurosci Res. 2005 Jul 15;81(2):153-62.

PMID:
15948147
16.

Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.

Woods CG, Bond J, Enard W.

Am J Hum Genet. 2005 May;76(5):717-28. Epub 2005 Mar 31. Review.

17.

Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion.

Kouprina N, Pavlicek A, Mochida GH, Solomon G, Gersch W, Yoon YH, Collura R, Ruvolo M, Barrett JC, Woods CG, Walsh CA, Jurka J, Larionov V.

PLoS Biol. 2004 May;2(5):E126. Epub 2004 Mar 23.

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. Epub 2012 Sep 13.

19.

ASPM mutations identified in patients with primary microcephaly and seizures.

Shen J, Eyaid W, Mochida GH, Al-Moayyad F, Bodell A, Woods CG, Walsh CA.

J Med Genet. 2005 Sep;42(9):725-9.

20.

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.

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