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