Temple Syndrome and Kagami-Ogata Syndrome: Clinical Presentations, Genotypes, Models and Mechanisms.
Sign Up to like & getrecommendations! Published in 2020 at "Human molecular genetics"
DOI: 10.1093/hmg/ddaa133
Abstract: Temple Syndrome (TS) and Kagami-Ogata Syndrome (KOS) are imprinting disorders caused by absence or overexpression of genes within a single imprinted cluster on human chromosome 14q32. TS most frequently arises from maternal UPD14 or epimutations/deletions… read more here.
Keywords: temple syndrome; syndrome kagami; ogata syndrome; kagami ogata ... See more keywords
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Genome Medicine"
DOI: 10.1186/s13073-019-0633-y
Abstract: BackgroundIntrachromosomal triplications (TRP) can contribute to disease etiology via gene dosage effects, gene disruption, position effects, or fusion gene formation. Recently, post-zygotic de novo triplications adjacent to copy-number neutral genomic intervals with runs of homozygosity… read more here.
Keywords: template switching; mechanism; temple syndrome; template ... See more keywords