Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2021.104373
Abstract: Intellectual disability (ID) often co-occurs with other neurologic phenotypes making molecular diagnosis more challenging particularly in consanguineous populations with the co-segregation of more than one ID-related gene in some cases. In this study, we investigated… read more here.
Keywords: microcephaly; intellectual disability; trappc9; large tunisian ... See more keywords
Human microcephaly ASPM protein is a spindle pole-focusing factor that functions redundantly with CDK5RAP2
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Cell Science"
DOI: 10.1242/jcs.203703
Abstract: ABSTRACT Nonsense mutations in the ASPM gene have been most frequently identified among familial microcephaly patients. Depletion of the Drosophila orthologue (asp) causes spindle pole unfocusing during mitosis in multiple cell types. However, it remains… read more here.
Keywords: protein; pole focusing; microcephaly; spindle pole ... See more keywords