Attya Omer Javed on Muck Rack

Attya Omer Javed

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Articles

Microcephaly Modeling of Kinetochore Mutation Reveals a Brain-Specific Phenotype

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By Yun Li Verified, Attya Omer Javed, Julien Muffat
| Cell Press Verified
Most genes mutated in microcephaly patients are expressed ubiquitously, and yet the brain is the only major organ compromised in most patients. Why the phenotype remains brain specific is poorly understood. In this study, we used in vitro differentiation of human embryonic stem cells to monitor the effect of a point mutation in kinetochore null protein 1 (KNL1; CASC5), identified in microcephaly patients, during in vitro brain development.
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