Hh signaling is required for a number of developmental proce...

created [InstanceEdit:5658050] Rothfels, Karen, 2014-12-16
dbId 5658049
displayName Hh signaling is required for a number of developmental proce...
schemaClass Summation
text Hh signaling is required for a number of developmental processes, and mutations that disrupt the normal processing and biogenesis of Hh ligand can result in neonatal abnormalities. SHH is one of a number of genes that have been associated with the congenital disorder holoprosencephaly, which causes abnormalities in brain and craniofacial development (Roessler et al, 2009; reviewed in Roessler and Muenke, 2011). SHH variants associated with the condition affect the autocatalytic processing of the precursor and dramatically impair the production of the secreted active Hh-Np, abrogating signaling (reviewed in Pan et al, 2013).
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