Neurodevelopmental disease-associated de novo mutations and rare sequence variants affect TRIO GDP/GTP exchange factor activity
Sign Up to like & getrecommendations! Published in 2017 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddx355
Abstract: Bipolar disorder, schizophrenia, autism and intellectual disability are complex neurodevelopmental disorders, debilitating millions of people. Therapeutic progress is limited by poor understanding of underlying molecular pathways. Using a targeted search, we identified an enrichment of… read more here.
Keywords: rare sequence; novo mutations; trio; associated novo ... See more keywords
OR11-6 Rare Sequence Variants in GnRH-Associated Genes May Contribute to Variable Susceptibility to Environmental Stressors in Functional Hypothalamic Amenorrhea
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the Endocrine Society"
DOI: 10.1210/js.2019-or11-6
Abstract: Abstract Some, but not all, women develop hypothalamic amenorrhea (HA) in association with exercise and/or food restriction. We hypothesized that variants in genes associated with the more severe hypogonadotropic disorder, idiopathic hypogonadotropic hypogonadism (IHH), may… read more here.
Keywords: may contribute; rare sequence; hypothalamic amenorrhea; rsvs ... See more keywords