id author title date pages extension mime words sentences flesch summary cache txt work_jaxsaqwozrgmza66nt24gtsghq E I Ginns Disruption of sonic hedgehog signaling in Ellis-van Creveld dwarfism confers protection against bipolar affective disorder 2014.0 7 .pdf application/pdf 6531 513 54 Decades of longitudinal research on bipolar affective disorder (BPAD) revealed cosegregation of high numbers of EvC disorders in these families, no EvC individual has ever been reported with BPI. reported chromosome 4p16 BPAD locus with protective alleles, coupled with detailed clinical observations that EvC and BPI do not occur in the same individuals, led us to hypothesize that the genetic defect causing EvC in the Amish confers protection from BPI. homozygous Amish EVC mutations causing EvC dwarfism do so by disrupting sonic hedgehog (Shh) signaling, our data implicate hedgehog signaling in EvC confers protection from BPI and Phenotypic subcategories for BPAD (the standard DSM subcategory for the Affective Disorders) as developed by the AMISH STUDY Psychiatric Board, Disruption of sonic hedgehog signaling in Ellis-van Creveld dwarfism confers protection against bipolar affective disorder Disruption of sonic hedgehog signaling in Ellis-van Creveld dwarfism confers protection against bipolar affective disorder ./cache/work_jaxsaqwozrgmza66nt24gtsghq.pdf ./txt/work_jaxsaqwozrgmza66nt24gtsghq.txt