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33 Cards in this Set

  • Front
  • Back
mild to moderate intellectual disability
how are microcephaly patients cognitively?
architecture of the brain is largely normal
apart from reduced cortical thickness,
4 to 10 SD
how different is the brain size in microcephaly?
cell cycle length hypothesis
G1 length provides time for cell fate determinant to induce differentiation
cleavage planes that are oriented in the radial dimention of the ventricular zone
cell polarity in development
apical and basal constituents
what resides at the two sides of the cell?
GFP-Tis21
how did we find all the division stuff?
cadherin hole
apical membrane fate-determining domain
Nicholas et al (2010)
WDR62 paper
19q12
where on the chromosome did they know WDR62 to be?
3 cM
how big of a region did SNPs of the two WDR62 families delineate?
248 chromosomes
they only found 1 substitution in WDR62 among how many controls?
cortical malformations
WDR has been linked to a variety of
Fish et al (2006)
ASPM paper
86% thickness
ASPM mouse model cortex
electroporation
how did Fish et al (2006) introduce siASPM in cells?
red fluorescent plasmid
what marker was also assed with electroporation?
Hussain et al (2012)
CEP135 paper
LOD>2
Genome-wide linkage analysis in the Pakistani family revealed 3 regions. How did they pick these 3 regions?
dbSNP
the CEP135 mutations wasn't in the >300 tested Pakistani or in the...?
pericentriolar material
where is CEP135 found in?
p50 and c-Nap1
what is CEP135 a scaffold for?
Kim et al (2008)
who did the Y2H analysis for CEP135 and c-Nap1?
premature chromosome splitting
what does CEP135i cause (as a scaffold)?
18%
how many cells had extra centrosomes in Hussain et al (2012) patient fibroblasts?
22%
how many cells had depleted centrosomes in Hussain et al (2012) patient fibroblasts?
MCPH1, CEP152, CDK5RAP2, CEP135
Disruption of which genes have shown extra centrosomes?
qRT-PCR
What method proved the partial NMD?
Konno et al (2007)
Showed apical progenitor population reduces more rapidly when spindle orientation is disrupted.
multiple cilia
What does KO of CDK5RAP2 cause?
STIL, CDK5RAP, CEP152, CENPJ
genes with an impact in cilia assembly
MCPH1, CDK5RAP2, CEP152, ASPM
genes associated with DNA damage response
ciliopathies
conditions affecting the kidneys, cerebellum, eyes, lungs, bones, ovaries, etc