A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1145
Abstract: TOP2B encodes type II topoisomerase beta, which controls topological changes during DNA transcription. TOP2B is expressed in the developing nervous system and is involved in brain development and neural differentiation. Recently, a de novo missense… read more here.
Keywords: top2b variant; disorder; associated global; novo top2b ... See more keywords
A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs
Sign Up to like & getrecommendations! Published in 2017 at "BMC Genomics"
DOI: 10.1186/s12864-017-4081-z
Abstract: BackgroundMany inherited polyneuropathies (PN) observed in dogs have clinical similarities to the genetically heterogeneous group of Charcot-Marie-Tooth (CMT) peripheral neuropathies in humans. The canine disorders collectively show a variable expression of progressive clinical signs and… read more here.
Keywords: gja9 frameshift; leonberger dogs; variant; variant associated ... See more keywords
Novel TOP3A Variant Associated With Mitochondrial Disease
Sign Up to like & getrecommendations! Published in 2022 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000200007
Abstract: Objectives Topoisomerase III alpha plays a key role in the dissolution of double Holliday junctions and is required for mitochondrial DNA (mtDNA) replication and maintenance. Sequence variants in the TOP3A gene have been associated with… read more here.
Keywords: top3a variant; associated mitochondrial; novel top3a; variant associated ... See more keywords
The SARS-CoV-2 Alpha variant was associated with increased clinical severity of COVID-19 in Scotland: A genomics-based retrospective cohort analysis
Sign Up to like & getrecommendations! Published in 2023 at "PLOS ONE"
DOI: 10.1371/journal.pone.0284187
Abstract: Objectives The SARS-CoV-2 Alpha variant was associated with increased transmission relative to other variants present at the time of its emergence and several studies have shown an association between Alpha variant infection and increased hospitalisation… read more here.
Keywords: alpha variant; variant associated; severity; cov alpha ... See more keywords