Search results for "FGFR2"
showing 3 items of 3 documents
NEGR1 and FGFR2 cooperatively regulate cortical development and core behaviours related to autism disorders in mice.
2018
See Contreras and Hippenmeyer (doi:10.1093/brain/awy218) for a scientific commentary on this article. Autism spectrum disorders (ASDs) are complex conditions with diverse aetiologies. Szczurkowska et al. demonstrate that two ASD-related molecules – FGFR2 and Negr1 – physically interact to act on the same downstream pathway, and regulate cortical development and ASD-relevant behaviours in mice. Identifying common mechanisms in ASDs may reveal targets for pharmacological intervention.
Apert Syndrome With FGFR2 758 C > G Mutation: A Chinese Case Report
2018
Background: Apert syndrome is considered as one of the most common craniosynostosis syndromes with a prevalence of 1 in 65,000 individuals, and has a close relationship with point mutations in FGFR2 gene.Case report: Here, we described a Apert syndrome case, who was referred to genetic consultation in our hospital with the symptom of craniosynostosis and syndactyly of the hands and feet. Craniosynostosis, midfacial retrusion, steep wide forehead, larger head circumference, marked depression of the nasal bridge, short and wide nose and proptosis could be found obviously, apart from these, ears were mildly low compared with normal children and there was no cleft lip and palate. Mutation was i…
Papel de IRS2 en la reparación del daño hepático y cáncer
2019
La resistencia a insulina es una característica típica de la diabetes tipo 2 y la obesidad, patologías vinculadas a un alto riesgo del desarrollo de enfermedades crónicas hepáticas y hepatocarcinoma. Sin embargo, se desconoce el papel que la resistencia a insulina pueda ejercer durante el daño hepático crónico y durante la hepatocarcinogénesis, por lo que se ha abordado esta cuestión a través del estudio del substrato receptor de insulina 2 (IRS2), principal promotor de la señalización de insulina en el hígado. La experimentación llevada a cabo durante este proyecto muestra que la deleción del gen Irs2 en el modelo murino Irs2-/- impide la inducción de Fgf7 en células estromales durante el …