Molecular and Phenotypic Characterization of Nine Patients with STAT1 GOF Mutations in China
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-019-00688-3
Abstract: Signal transducer and activator of transcription 1 (STAT1) is a transcription factor that mediates cellular responses to interferons (IFNs) and other cytokines and growth factors in diverse cell types. STAT1 gain-of-function (GOF) mutations result in… read more here.
Keywords: molecular phenotypic; nine patients; gof mutations; stat1 gof ... See more keywords
Experimental and In Silico Analysis of TEM β-Lactamase Adaptive Evolution
Sign Up to like & getrecommendations! Published in 2022 at "ACS Infectious Diseases"
DOI: 10.1021/acsinfecdis.2c00216
Abstract: Multiple mutations often have non-additive (epistatic) phenotypic effects. Epistasis is of fundamental biological relevance but is not well understood mechanistically. Adaptive evolution, i.e., the evolution of new biochemical activities, is rich in epistatic interactions. To… read more here.
Keywords: tem lactamase; gof mutations; evolution; epistasis ... See more keywords
Cognitive deficits and impaired hippocampal long-term potentiation in KATP-induced DEND syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2109721118
Abstract: Significance Gain-of-function (GOF) mutations in the ATP-sensitive potassium (KATP) channel cause neonatal diabetes, with some individuals exhibiting developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome. In this study, we uncover the direct effects of neuronal… read more here.
Keywords: gof mutations; katp; katp gof; cognitive deficits ... See more keywords
STAT mutations as program switchers: turning primary immunodeficiencies into autoimmune diseases
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Leukocyte Biology"
DOI: 10.1189/jlb.5ri0516-237rr
Abstract: STAT proteins are a family of transcription factors that mediate cellular response to cytokines and growth factors. Study of patients with familial susceptibility to pathogens and/or autoimmune diseases has led to the identification of 7… read more here.
Keywords: switchers turning; autoimmune diseases; gof mutations; stat mutations ... See more keywords