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 monoallelic UXS1 variant associated with short‐limbed short stature
Sign Up to like & getrecommendations! Published in 2024 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2472
Abstract: Serine residues in the protein backbone of heavily glycosylated proteoglycans are bound to glycosaminoglycans through a tetrasaccharide linker. UXS1 encodes UDP‐glucuronate decarboxylase 1, which catalyzes synthesis of UDP‐xylose, the donor of the first building block… read more here.
Keywords: short stature; stature; uxs1 variant; variant associated ... 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
A POT1 Founder Variant Associated with Early Onset Recurrent Melanoma and Various Solid Malignancies
Sign Up to like & getrecommendations! Published in 2024 at "Genes"
DOI: 10.3390/genes15030355
Abstract: POT1 (Protection of Telomeres 1) is a key component of the six-membered shelterin complex that plays a critical role in telomere protection and length regulation. Germline variants in the POT1 gene have been implicated in… read more here.
Keywords: founder; associated early; variant; variant associated ... See more keywords
De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy—Case Report and Literature Review
Sign Up to like & getrecommendations! Published in 2025 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms26020846
Abstract: Pathogenic variants in DNM1L, encoding dynamin-like protein-1 (DRP1), cause a lethal encephalopathy. DRP1 defective function results in altered mitochondrial networks, characterized by elongated/spaghetti-like, highly interconnected mitochondria. We validated in yeast the pathogenicity of a de… read more here.
Keywords: variant; pathogenic variant; novo dnm1l; variant associated ... See more keywords