CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development

Ganeshwaran H Mochida,Vijay S Ganesh, Maria I de Michelena,Hugo Dias,Kutay D Atabay,Katie L Kathrein,Hsuan-Ting Huang,R Sean Hill,Jillian M Felie,Daniel Rakiec,Danielle Gleason,Anthony D Hill,Athar N Malik,Brenda J Barry,Jennifer N Partlow,Wen-Hann Tan, Laurie J Glader,A James Barkovich,William B Dobyns,Leonard I Zon,Christopher A Walsh

NATURE GENETICS（2012）

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摘要

Christopher Walsh and colleagues identify mutations in CHMP1A in human cerebellar hypoplasia and microcephaly. Cells lacking CHMP1A show decreased cell proliferation and decreased expression of BMI1 , a negative regulator of stem cell proliferation.

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关键词

Developmental neurogenesis,Epigenetics,Gene regulation,Biomedicine,general,Human Genetics,Cancer Research,Agriculture,Gene Function,Animal Genetics and Genomics

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