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The molecular landscape of ASPM mutations in primary microcephaly

By A K Nicholas, E A Swanson, J J Cox, G Karbani, S Malik, K Springell, D Hampshire, M Ahmed, J Bond, D Di Benedetto, M Fichera, C Romano, W B Dobyns and C G Woods
Topics: Original Articles
Publisher: BMJ Publishing Group
OAI identifier: oai:pubmedcentral.nih.gov:2658750
Provided by: PubMed Central
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    1. A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.
    2. A clinical and genetical study of microcephaly.
    3. A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly.
    4. ASPM is a major determinant of cerebral cortical size.
    5. ASPM mutations identified in patients with primary microcephaly and seizures.
    6. Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.
    7. Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation.
    8. Cep68 and Cep215 (Cdk5rap2) are required for centrosome cohesion.
    9. Depletion of CPAP by RNAi disrupts centrosome integrity and induces multipolar spindles.
    10. (1998). Diseases of the nervous system in childhood, 2nd ed.
    11. Do ¨rr HG, Reis A.Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science 2008;319:816–19. Web resources OMIM On-line Mendelian Inheritance in Man: http://www.ncbi.nlm.nih.gov/Omim/
    12. Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations.
    13. Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: novel sequence variants in ASPM gene.
    14. (1992). Genetics and neurology, 2nd ed.
    15. (1986). Head circumference charts updated. Arch Dis Child
    16. Identification of microcephalin, a protein implicated in determining the size of the human brain.
    17. Inglehearn CF. Quantification of homozygosity in consanguineous individuals with autosomal recessive disease.
    18. (2006). Microcephalin encodes a centrosomal protein. Cell Cycle
    19. (2006). Microcephalin: a causal link between impaired damage response signalling and microcephaly. Cell Cycle
    20. (2007). Microcephaly syndromes. Semin Pediatr Neurol
    21. (1990). Microcephaly: general considerations and aids to nosology.
    22. (1987). Microcephaly: genetic counselling and antenatal diagnosis after the birth of an affected child.
    23. (2006). Misregulated chromosome condensation in MCPH1 primary microcephaly is mediated by condensin II. Cell Cycle
    24. Molecular genetics of human microcephaly.
    25. Nonspecific mental retardation in British Columbia as ascertained through a registry.
    26. Novel protein-truncating mutations in the ASPM gene in families with autosomal recessive primary microcephaly.
    27. Pa ¨a ¨bo S, Huttner WB. Aspm specifically maintains symmetric proliferative divisions of neuroepithelial cells.
    28. Pitfalls in homozygosity mapping.
    29. Protein 4.1 R-135 interacts with a novel centrosomal protein (CPAP) which is associated with the gamma-tubulin complex.
    30. Recurrence risks in severe undiagnosed mental deficiency.
    31. Significance of microcephaly among children with developmental disabilities.
    32. (2006). SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. Hum Genet
    33. (1974). Textbook of child neurology. Philadelphia: Lea and Febiger,
    34. (1981). The descent of man and selection in relation to sex.
    35. (2005). The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein. Hum Mol Genet
    36. (2006). What primary microcephaly can tell us about brain growth. Trends Mol Med

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