Monica Carezani-Gavin's research while affiliated with University of Washington Seattle and other places
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Citations
... Interestingly, multiple hits in this pathway such as in Pax3 Sp/+; Shmt1 -/+ compound mutants increases the penetrance and severity of NTDs (264). This interaction may be relevant to human NTDs as spina bifida and anencephaly are found in some individuals with PAX3 mutations with Waardenburg Syndrome as well as in non-syndromic NTDs (25, 35, 168,[265][266][267][268][269][270][271][272][273][274][275]. Finally, human cell lines derived from NTD fetuses exhibit abnormal folate metabolism (276). ...
Reference: Mouse Models of Neural Tube Defects