L17 Flashcards
spina bifida is hwat
failture to fuse neural tube
developmental defects are mostly inherited in what
autosomal dominant characteristics
incidence of spina bifida is greatly decreased when the mother’s diet includes adequate what
folate
incomplete v complete syndactyly
incomplete: joined partway up
complete: joined all the way to tip
what are the causes for developmetnal malformations?
- Dietary deficiencies
- Teratogens – environmental agents (viruses, chemicals. etc) that alter development, but not by causing mutation
- Genetic – caused by mutation
- Epigenetic – altered gene expression
FGF8 is critical for what
limb bud developing
Thalidomide antagonizes_____ expression
FGF8
Holoprosencephaly = and cause
Failure to divide structures along the midline
various causes - including mutations in genes of the Shh signalling pathway
in the Shh signalling pathway,
Secreted Sonic hedgehog binds to _______ receptor
This relieves inhibition of_______
Activated Smoothened transmits signal, activating ________ factors
Gli regulates _______ expression
Patched
Smoothened
Gli transcription
target gene
Cyclopamine______ Shh signalling by binding to and inhibiting_____
blocks
Smo
Mutation of _____ leads to overactivation of the____ pathway in cancer cells
patched
Shh
Cyclopamine has therapeutic potential as a_____ pathway inhibitor
Shh
Mutations in_____ result in musculoskeletal defects
HES7
Mutation of HES7 gives rise to________ defects of the vertebrae (SDV), spondylocostal dysostosis.
segmentation
Mutation of HES7 results in loss of segments and _________ in human axioloids.
epithelial somite formation
