Refining the resolution of craniofacial dysmorphology in bipolar disorder as an index of brain dysmorphogenesis
Sign Up to like & getrecommendations! Published in 2020 at "Psychiatry Research"
DOI: 10.1016/j.psychres.2020.113243
Abstract: Highlights • Facial dysmorphology was studied as an accessible index of brain dysmorphogenesis.• Bipolar patients showed complex, non-linear changes relative to control subjects.• Bipolar disorder was characterised by retrusion of the frontonasal prominences.• The findings… read more here.
Keywords: dysmorphology; dysmorphogenesis; bipolar disorder; index brain ... See more keywords
Dysmorphology and the ESHG
Sign Up to like & getrecommendations! Published in 2017 at "European Journal of Human Genetics"
DOI: 10.1038/ejhg.2017.161
Abstract: Dysmorphology, as with other disciplines within genomic medicine is evolving to harness new knowledge and technologies. However those in the field must never lose sight of the fact that each dysmorphic child belongs within a… read more here.
Keywords: dysmorphology; dysmorphology eshg; medicine;
Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signalling
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-12574-2
Abstract: DEPDC5 mutations have recently been shown to cause epilepsy in humans. Evidence from in vitro studies has implicated DEPDC5 as a negative regulator of mTORC1 during amino acid insufficiency as part of the GATOR1 complex.… read more here.
Keywords: hyperactivity; mtorc1; dysmorphology; epilepsy gene ... See more keywords
Invited Perspective: Using Facial Features as an Endophenotypic Marker of Susceptibility to Environmental Exposures
Sign Up to like & getrecommendations! Published in 2022 at "Environmental Health Perspectives"
DOI: 10.1289/ehp10616
Abstract: The architect Louis Sullivan wrote that “form ever follows function,” highlighting the interrelationship of these two and the importance of form as an indicator of underlying factors and purpose. In the case of the recent… read more here.
Keywords: dysmorphology; neurodevelopmental outcomes; environmental exposures; facial features ... See more keywords