Article

Identification and Functional Analysis of Rare HECTD1 Missense Variants in Human Neural Tube Defects

2024-01-02

Abstract excerpt

Neural tube defects (NTDs) are severe malformations of the central nervous system that arise from failure of neural tube closure. HECTD1 is an E3 ubiquitin ligase required for cranial neural tube closure in mouse models. NTDs in the Hectd1 mutant mouse model are due to the failure of cranial mesenchyme morphogenesis during neural fold elevation. Our earlier research has linked increased secretion of extracellular...

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Literature Corpus work: 73c27c3d-2994-5e76-a30a-96878f3b74a7
DOI: 10.21203/rs.3.rs-3794712/v1

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