Matches in SemOpenAlex for { <https://semopenalex.org/work/W4313362323> ?p ?o ?g. }
Showing items 1 to 95 of
95
with 100 items per page.
- W4313362323 endingPage "108" @default.
- W4313362323 startingPage "108" @default.
- W4313362323 abstract "Polymicrogyria is a brain malformation characterized by excessive folding of the cortex. To date, numerous causes of polymicrogyria have been identified, including variants in the genes associated with tubulinopathies. Herein, we present a child with severe intellectual disability, refractory to treatment seizures, microcephaly and MRI findings consistent with polymicrogyria, closed-lip schizencephaly, periventricular heterotopia and a dysplastic corpus callosum. Exome sequencing identified a de novo missense variant in TUBG2, a gene not associated with human disease. The variant, NM_016437.3 c.747G>A p.(Met249Ile), is absent from available control databases and is predicated to be deleterious by in silico prediction programs. Laboratory studies show that cultured lymphoblasts derived from the patient grew significantly faster than controls. Recombinant protein was expressed (recombinant wild type and mutant TUBG2-FLAG) in 293T cells and lower levels of TUBG2 mutant compared with controls were observed. Furthermore, co-immuno-precipitation in cells transfected demonstrated that the TUBG2–GCP2 interaction is increased due to the MUT recombinant protein versus WT recombinant protein. In closing, this work provides preliminary evidence that TUBG2 may represent a novel disease gene responsible for polymicrogyria." @default.
- W4313362323 created "2023-01-06" @default.
- W4313362323 creator A5018766494 @default.
- W4313362323 creator A5024422532 @default.
- W4313362323 creator A5024429433 @default.
- W4313362323 creator A5064258542 @default.
- W4313362323 creator A5079274724 @default.
- W4313362323 creator A5080225583 @default.
- W4313362323 date "2022-12-29" @default.
- W4313362323 modified "2023-10-09" @default.
- W4313362323 title "A De Novo Missense Variant in TUBG2 in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria" @default.
- W4313362323 cites W1519576347 @default.
- W4313362323 cites W1959433595 @default.
- W4313362323 cites W1984068087 @default.
- W4313362323 cites W2003602250 @default.
- W4313362323 cites W2064808236 @default.
- W4313362323 cites W2103441770 @default.
- W4313362323 cites W2113628835 @default.
- W4313362323 cites W2119180969 @default.
- W4313362323 cites W2132868073 @default.
- W4313362323 cites W2154599827 @default.
- W4313362323 cites W2159720471 @default.
- W4313362323 cites W2511110663 @default.
- W4313362323 cites W2801525896 @default.
- W4313362323 cites W2803079609 @default.
- W4313362323 cites W2883979800 @default.
- W4313362323 cites W2944683581 @default.
- W4313362323 cites W2951101345 @default.
- W4313362323 cites W3029661147 @default.
- W4313362323 cites W3090499586 @default.
- W4313362323 cites W3115788635 @default.
- W4313362323 doi "https://doi.org/10.3390/genes14010108" @default.
- W4313362323 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36672848" @default.
- W4313362323 hasPublicationYear "2022" @default.
- W4313362323 type Work @default.
- W4313362323 citedByCount "1" @default.
- W4313362323 countsByYear W43133623232023 @default.
- W4313362323 crossrefType "journal-article" @default.
- W4313362323 hasAuthorship W4313362323A5018766494 @default.
- W4313362323 hasAuthorship W4313362323A5024422532 @default.
- W4313362323 hasAuthorship W4313362323A5024429433 @default.
- W4313362323 hasAuthorship W4313362323A5064258542 @default.
- W4313362323 hasAuthorship W4313362323A5079274724 @default.
- W4313362323 hasAuthorship W4313362323A5080225583 @default.
- W4313362323 hasBestOaLocation W43133623231 @default.
- W4313362323 hasConcept C104317684 @default.
- W4313362323 hasConcept C127716648 @default.
- W4313362323 hasConcept C16671776 @default.
- W4313362323 hasConcept C169760540 @default.
- W4313362323 hasConcept C2776395126 @default.
- W4313362323 hasConcept C2778186239 @default.
- W4313362323 hasConcept C2778596996 @default.
- W4313362323 hasConcept C2779674439 @default.
- W4313362323 hasConcept C2781121353 @default.
- W4313362323 hasConcept C501734568 @default.
- W4313362323 hasConcept C54355233 @default.
- W4313362323 hasConcept C75563809 @default.
- W4313362323 hasConcept C86803240 @default.
- W4313362323 hasConceptScore W4313362323C104317684 @default.
- W4313362323 hasConceptScore W4313362323C127716648 @default.
- W4313362323 hasConceptScore W4313362323C16671776 @default.
- W4313362323 hasConceptScore W4313362323C169760540 @default.
- W4313362323 hasConceptScore W4313362323C2776395126 @default.
- W4313362323 hasConceptScore W4313362323C2778186239 @default.
- W4313362323 hasConceptScore W4313362323C2778596996 @default.
- W4313362323 hasConceptScore W4313362323C2779674439 @default.
- W4313362323 hasConceptScore W4313362323C2781121353 @default.
- W4313362323 hasConceptScore W4313362323C501734568 @default.
- W4313362323 hasConceptScore W4313362323C54355233 @default.
- W4313362323 hasConceptScore W4313362323C75563809 @default.
- W4313362323 hasConceptScore W4313362323C86803240 @default.
- W4313362323 hasFunder F4320310787 @default.
- W4313362323 hasIssue "1" @default.
- W4313362323 hasLocation W43133623231 @default.
- W4313362323 hasLocation W43133623232 @default.
- W4313362323 hasLocation W43133623233 @default.
- W4313362323 hasLocation W43133623234 @default.
- W4313362323 hasOpenAccess W4313362323 @default.
- W4313362323 hasPrimaryLocation W43133623231 @default.
- W4313362323 hasRelatedWork W2335656499 @default.
- W4313362323 hasRelatedWork W2507923183 @default.
- W4313362323 hasRelatedWork W2538525323 @default.
- W4313362323 hasRelatedWork W2807921722 @default.
- W4313362323 hasRelatedWork W2891711422 @default.
- W4313362323 hasRelatedWork W2895604329 @default.
- W4313362323 hasRelatedWork W3082746892 @default.
- W4313362323 hasRelatedWork W3131486586 @default.
- W4313362323 hasRelatedWork W3196654945 @default.
- W4313362323 hasRelatedWork W4313362323 @default.
- W4313362323 hasVolume "14" @default.
- W4313362323 isParatext "false" @default.
- W4313362323 isRetracted "false" @default.
- W4313362323 workType "article" @default.