| http://purl.uniprot.org/citations/37353954 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/37353954 | http://www.w3.org/2000/01/rdf-schema#comment | "TBCK-related encephalopathy is a rare pediatric neurodegenerative disorder caused by biallelic loss-of-function variants in the TBCK gene. After receiving anecdotal reports of neurologic phenotypes in both human and mouse TBCK heterozygotes, we quantified if TBCK haploinsufficiency causes a phenotype in mice and humans. Using the tbck+/- mouse model, we performed a battery of behavioral assays and mTOR pathway analysis to investigate potential alterations in neurophysiology. We conducted as well a phenome-wide association study (PheWAS) analysis in a large adult biobank to determine the presence of potential phenotypes associated to this variant. The tbck+/- mouse model demonstrates a reduction of exploratory behavior in animals with significant sex and genotype interactions. The concurrent PheWAS analysis of 10,900 unrelated individuals showed that patients with one copy of a TBCK loss-of-function allele had a significantly higher rate of acquired toe and foot deformities, likely indicative of a mild peripheral neuropathy phenotype. This study presents an example of what may be the underappreciated occurrence of mild neurogenic symptoms in heterozygote individuals of recessive neurogenetic syndromes."xsd:string |
| http://purl.uniprot.org/citations/37353954 | http://purl.org/dc/terms/identifier | "doi:10.1002/ajmg.a.63320"xsd:string |
| http://purl.uniprot.org/citations/37353954 | http://purl.uniprot.org/core/author | "Park J."xsd:string |
| http://purl.uniprot.org/citations/37353954 | http://purl.uniprot.org/core/author | "Black A."xsd:string |
| http://purl.uniprot.org/citations/37353954 | http://purl.uniprot.org/core/author | "Murali S."xsd:string |
| http://purl.uniprot.org/citations/37353954 | http://purl.uniprot.org/core/author | "Ramos I."xsd:string |
| http://purl.uniprot.org/citations/37353954 | http://purl.uniprot.org/core/author | "Passos-Bueno M.R."xsd:string |
| http://purl.uniprot.org/citations/37353954 | http://purl.uniprot.org/core/author | "Nair D."xsd:string |
| http://purl.uniprot.org/citations/37353954 | http://purl.uniprot.org/core/author | "Bhoj E."xsd:string |
| http://purl.uniprot.org/citations/37353954 | http://purl.uniprot.org/core/author | "O'Brien W.T."xsd:string |
| http://purl.uniprot.org/citations/37353954 | http://purl.uniprot.org/core/author | "Yoon A."xsd:string |
| http://purl.uniprot.org/citations/37353954 | http://purl.uniprot.org/core/author | "Angireddy R."xsd:string |
| http://purl.uniprot.org/citations/37353954 | http://purl.uniprot.org/core/author | "Diaz-Rosado A."xsd:string |
| http://purl.uniprot.org/citations/37353954 | http://purl.uniprot.org/core/author | "Ciesielski B."xsd:string |
| http://purl.uniprot.org/citations/37353954 | http://purl.uniprot.org/core/author | "Varella-Branco E."xsd:string |
| http://purl.uniprot.org/citations/37353954 | http://purl.uniprot.org/core/date | "2023"xsd:gYear |
| http://purl.uniprot.org/citations/37353954 | http://purl.uniprot.org/core/name | "Am J Med Genet A"xsd:string |
| http://purl.uniprot.org/citations/37353954 | http://purl.uniprot.org/core/pages | "2508-2517"xsd:string |
| http://purl.uniprot.org/citations/37353954 | http://purl.uniprot.org/core/title | "Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice."xsd:string |
| http://purl.uniprot.org/citations/37353954 | http://purl.uniprot.org/core/volume | "191"xsd:string |
| http://purl.uniprot.org/citations/37353954 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/37353954 |
| http://purl.uniprot.org/citations/37353954 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/37353954 |
| http://purl.uniprot.org/uniprot/#_E9Q1W7-mappedCitation-37353954 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/37353954 |
| http://purl.uniprot.org/uniprot/#_Q5HYF5-mappedCitation-37353954 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/37353954 |