Neurobehavioral Phenotype Analysis in Molecular Intervention Models of Mir-137 Expression
Sign Up to like & getrecommendations! Published in 2017 at "European Neuropsychopharmacology"
DOI: 10.1016/j.euroneuro.2016.09.596
Abstract: Abstract Small non-coding microRNA (miRNA) coordinate mRNA translation and stability, and their dysregulation is thought to have significant consequences in psychiatric disorders. This hypothesis is clearly supported by strong genome-wide association of the MIR137 containing… read more here.
Keywords: phenotype; mir 137; neurobehavioral phenotype; phenotype analysis ... See more keywords
Genotype‐phenotype analysis of MT‐ATP6‐associated Leigh syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Acta Neurologica Scandinavica"
DOI: 10.1111/ane.13566
Abstract: Mitochondrial DNA (mtDNA)‐associated Leigh syndrome (LS) is characterized by maternal inheritance, and the heteroplasmic mutant load of mtDNA pathogenic variants is known to affect clinical phenotypes. Among mtDNA pathogenic variants, variants of the MT‐ATP6 gene… read more here.
Keywords: phenotype analysis; leigh syndrome; associated leigh; atp6 associated ... See more keywords
Multivariate phenotype analysis enables genome-wide inference of mammalian gene function
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DOI: 10.1371/journal.pbio.3001723
Abstract: The function of the majority of genes in the human and mouse genomes is unknown. Investigating and illuminating this dark genome is a major challenge for the biomedical sciences. The International Mouse Phenotyping Consortium (IMPC)… read more here.
Keywords: genome wide; phenotype analysis; analysis; model ... See more keywords
Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.869210
Abstract: Background: Epilepsy in childhood is a common and diverse neurological disorder. We conducted a genetic and phenotype analysis of a Chinese cohort of infants and children with epilepsy. Methods: We conducted a pedigree analysis of… read more here.
Keywords: chinese cohort; analysis chinese; cohort infants; phenotype analysis ... See more keywords