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Rare mutations in multiple genes have been associated with human neural tube defects (NTDs), but their causative roles in NTDs disease are poorly understood. Insufficiency of the ribosomal biogenesis gene… Click to show full abstract
Rare mutations in multiple genes have been associated with human neural tube defects (NTDs), but their causative roles in NTDs disease are poorly understood. Insufficiency of the ribosomal biogenesis gene treacle ribosome biogenesis factor 1(Tcof1) results in cranial NTDs and craniofacial malformations in mice. Here, we aimed to identify genetic association of TCOF1 with human NTDs.
Keywords:
human neural;
biogenesis;
tube defects;
tcof1;
ribosomal biogenesis;
neural tube
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2023
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2023
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!