Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome.
Sign Up to like & getrecommendations! Published in 2018 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2018.01.005
Abstract: 15q13.3 microdeletion syndrome is characterized by a wide spectrum of neurodevelopmental disorders, including developmental delay, intellectual disability, epilepsy, language impairment, abnormal behaviors, neuropsychiatric disorders, and hypotonia. This syndrome is caused by a deletion on chromosome… read more here.
Keywords: 15q13 microdeletion; microdeletion syndrome; mice; syndrome ... See more keywords
Central and peripheral immune responses to low-dose lipopolysaccharide in a mouse model of the 15q13.3 microdeletion.
Sign Up to like & getrecommendations! Published in 2019 at "Cytokine"
DOI: 10.1016/j.cyto.2019.154879
Abstract: Carriers of the human 15q13.3 microdeletion (MD) present with a variable spectrum of neuropathological phenotypes that range from asymptomatic to severe clinical outcomes, suggesting an interplay of genetic and non-genetic factors. The most common 2 MB… read more here.
Keywords: immune; 15q13 microdeletion; low dose; immune responses ... See more keywords
SA60 TRANSCRIPTIONAL CHANGES IN MOUSE MODELS OF THE 15Q13.3 MICRODELETION SYNDROME
Sign Up to like & getrecommendations! Published in 2019 at "European Neuropsychopharmacology"
DOI: 10.1016/j.euroneuro.2017.08.132
Abstract: Background The 15q13.3 microdeletion syndrome is caused by a 1.5 MB hemizygous microdeletion at chromosome 15q13.3 affecting seven genes: FAN1, MTMR10, TRPM1, MIR211, KLF13, OTUD7A, and CHRNA7. The 15q13.3 microdeletion increases the risk of intellectual… read more here.
Keywords: 15q13 microdeletion; mouse models; microdeletion syndrome; microdeletion ... See more keywords