Research breakthrough on birth defect affecting brain size

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Research breakthrough on birth defect affecting brain size
Diseases And ConditionsBirth DefectsMedical Topics
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A team has identified a molecular cellular mechanism that is linked to microencephaly, a condition in which a baby's head is much smaller than expected.

A team has identified a molecular cellular mechanism that is linked to microencephaly, a condition in which a baby's head is much smaller than expected.

Why NMD mutations are enriched in neurodevelopmental disorders remains a mystery.

The study explains the functional roles of NMD in brain development and the underlying mechanistic action. It also demonstrates for the first time the link between mRNA decay regulation and brain size control. Additionally, it reveals the intricate connection between NMD and the most famous tumor suppressor gene, p53, suggesting possible new connections between NMD and cancer.

Scientists have discovered a new genetic disease, which causes some children's brains to develop abnormally, resulting in delayed intellectual development and often early onset cataracts. The ...

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