CDK5RAP2
|
0.380 |
Biomarker
|
disease |
BEFREE |
A new association between CDK5RAP2 microcephaly and congenital cataracts.
|
29271474 |
2018 |
CDK5RAP2
|
0.380 |
Biomarker
|
disease |
BEFREE |
Finally, a hypomorphic mutation identified in ASPM microcephaly patients similarly caused spindle pole unfocusing in the absence of CDK5RAP2, suggesting a possible link between spindle pole disorganisation and microcephaly.
|
28883092 |
2017 |
CDK5RAP2
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
Further analysis, initiated on account of a lack of a microcephaly phenotype in these mutant mice, revealed the presence of previously unknown splice variants of the Cdk5rap2 gene that are at least in part accountable for the lack of microcephaly in the mice.
|
26322982 |
2015 |
CDK5RAP2
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
Sequencing of the coding exons and exon/intron splice junctions of the CDK5RAP2 gene identified homozygosity for the novel nonsense mutation, c.4441C > T (p.Arg1481*), in both affected sons. cMRI showed microcephaly, simplified gyral pattern and hypogenesis of the corpus callosum.
|
23587236 |
2013 |
CDK5RAP2
|
0.380 |
Biomarker
|
disease |
BEFREE |
We integrate the impact of centriole replication defects with the functions of Cdk5rap2 and other MCPH proteins, propose mechanisms for progenitor loss in MCPH, and discuss links to two other microcephaly syndromes.
|
21632253 |
2011 |
CDK5RAP2
|
0.380 |
Biomarker
|
disease |
BEFREE |
The finding that CDK5RAP2 human mutations cause microcephaly prompted further analysis of Cdk5rap2(an/an) mice and we demonstrated that these mice exhibit microcephaly comparable to that of the human disease, resulting from striking neurogenic defects that include proliferative and survival defects in neuronal progenitors.
|
20460369 |
2010 |
CDK5RAP2
|
0.380 |
GeneticVariation
|
disease |
LHGDN |
CDK5RAP2 is a pericentriolar protein that functions in centrosomal attachment of the gamma-tubulin ring complex.
|
17959831 |
2008 |
CDK5RAP2
|
0.380 |
GeneticVariation
|
disease |
LHGDN |
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.
|
15793586 |
2005 |
CDK5RAP2
|
0.380 |
Biomarker
|
disease |
HPO |
|
|
|
CDK5RAP2
|
0.380 |
Biomarker
|
disease |
MGD |
|
|
|