期刊
SCIENCE
卷 303, 期 5666, 页码 2033-2036出版社
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.1092780
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资金
- NICHD NIH HHS [HD07466] Funding Source: Medline
- NINDS NIH HHS [R37 NS35129, K08 NS045762-01A1] Funding Source: Medline
The mammalian cerebral cortex is characterized by complex patterns of anatomical and functional areas that differ markedly between species, but the molecular basis for this functional subdivision is largely unknown. Here, we show that mutations in GPR56, which encodes an orphan G protein - coupled receptor (GPCR) with a large extracellular domain, cause a human brain cortical malformation called bilateral frontoparietal polymicrogyria (BFPP). BFPP is characterized by disorganized cortical lamination that is most severe in frontal cortex. Our data suggest that GPCR signaling plays an essential role in regional development of human cerebral cortex.
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