FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4378171976> ?p ?o ?g. }

• W4378171976 abstract "Joubert syndrome (JBTS) is a Mendelian disorder of the primary cilium defined by the clinical triad of hypotonia, developmental delay, and a distinct cerebellar malformation called the molar tooth sign. JBTS is inherited in an autosomal recessive, autosomal dominant, or X-linked recessive manner. Though over 40 genes have been identified as causal for JBTS, molecular diagnosis is not made in 30%–40% of individuals who meet clinical criteria. TOPORS encodes topoisomerase I-binding arginine/serine-rich protein, and homozygosity for a TOPORS missense variant (c.29C > A; p.(Pro10Gln)) was identified in individuals with the ciliopathy oral-facial-digital syndrome in two families of Dominican descent. Here, we report an additional proband of Dominican ancestry with JBTS found by exome sequencing to be homozygous for the identical p.(Pro10Gln) TOPORS missense variant. Query of the Mount Sinai BioMe biobank, which includes 1880 individuals of Dominican ancestry, supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent. Our data nominates TOPORS as a novel causal gene for JBTS and suggests that TOPORS variants should be considered in the differential of ciliopathy-spectrum disease in individuals of Dominican ancestry." @default.
• W4378171976 created "2023-05-26" @default.
• W4378171976 creator A5008262289 @default.
• W4378171976 creator A5022190651 @default.
• W4378171976 creator A5039902923 @default.
• W4378171976 creator A5046822527 @default.
• W4378171976 creator A5066789855 @default.
• W4378171976 creator A5070483300 @default.
• W4378171976 creator A5082417323 @default.
• W4378171976 creator A5088244425 @default.
• W4378171976 date "2023-05-25" @default.
• W4378171976 modified "2023-10-15" @default.
• W4378171976 title "<i>TOPORS</i> as a novel causal gene for Joubert syndrome" @default.
• W4378171976 cites W1558709473 @default.
• W4378171976 cites W1990931573 @default.
• W4378171976 cites W2002940960 @default.
• W4378171976 cites W2003414443 @default.
• W4378171976 cites W2013479320 @default.
• W4378171976 cites W2021165622 @default.
• W4378171976 cites W2023892306 @default.
• W4378171976 cites W2027977273 @default.
• W4378171976 cites W2030342280 @default.
• W4378171976 cites W2099085143 @default.
• W4378171976 cites W2120185413 @default.
• W4378171976 cites W2138779444 @default.
• W4378171976 cites W2139716953 @default.
• W4378171976 cites W2141813845 @default.
• W4378171976 cites W2144015228 @default.
• W4378171976 cites W2154421528 @default.
• W4378171976 cites W2156092265 @default.
• W4378171976 cites W2161633633 @default.
• W4378171976 cites W2268895451 @default.
• W4378171976 cites W2294797777 @default.
• W4378171976 cites W2332095084 @default.
• W4378171976 cites W2344363019 @default.
• W4378171976 cites W2549998959 @default.
• W4378171976 cites W2578323570 @default.
• W4378171976 cites W2583285781 @default.
• W4378171976 cites W2583627713 @default.
• W4378171976 cites W2595964111 @default.
• W4378171976 cites W2934716016 @default.
• W4378171976 cites W2954255656 @default.
• W4378171976 cites W2976146569 @default.
• W4378171976 cites W3093528466 @default.
• W4378171976 cites W3127061515 @default.
• W4378171976 cites W3135394782 @default.
• W4378171976 cites W3168210368 @default.
• W4378171976 cites W3205552187 @default.
• W4378171976 cites W4200009634 @default.
• W4378171976 cites W4283385623 @default.
• W4378171976 doi "https://doi.org/10.1002/ajmg.a.63303" @default.
• W4378171976 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37227088" @default.
• W4378171976 hasPublicationYear "2023" @default.
• W4378171976 type Work @default.
• W4378171976 citedByCount "0" @default.
• W4378171976 crossrefType "journal-article" @default.
• W4378171976 hasAuthorship W4378171976A5008262289 @default.
• W4378171976 hasAuthorship W4378171976A5022190651 @default.
• W4378171976 hasAuthorship W4378171976A5039902923 @default.
• W4378171976 hasAuthorship W4378171976A5046822527 @default.
• W4378171976 hasAuthorship W4378171976A5066789855 @default.
• W4378171976 hasAuthorship W4378171976A5070483300 @default.
• W4378171976 hasAuthorship W4378171976A5082417323 @default.
• W4378171976 hasAuthorship W4378171976A5088244425 @default.
• W4378171976 hasConcept C104317684 @default.
• W4378171976 hasConcept C10590036 @default.
• W4378171976 hasConcept C127716648 @default.
• W4378171976 hasConcept C16671776 @default.
• W4378171976 hasConcept C2777386794 @default.
• W4378171976 hasConcept C2780561973 @default.
• W4378171976 hasConcept C501734568 @default.
• W4378171976 hasConcept C54355233 @default.
• W4378171976 hasConcept C75563809 @default.
• W4378171976 hasConcept C86803240 @default.
• W4378171976 hasConceptScore W4378171976C104317684 @default.
• W4378171976 hasConceptScore W4378171976C10590036 @default.
• W4378171976 hasConceptScore W4378171976C127716648 @default.
• W4378171976 hasConceptScore W4378171976C16671776 @default.
• W4378171976 hasConceptScore W4378171976C2777386794 @default.
• W4378171976 hasConceptScore W4378171976C2780561973 @default.
• W4378171976 hasConceptScore W4378171976C501734568 @default.
• W4378171976 hasConceptScore W4378171976C54355233 @default.
• W4378171976 hasConceptScore W4378171976C75563809 @default.
• W4378171976 hasConceptScore W4378171976C86803240 @default.
• W4378171976 hasLocation W43781719761 @default.
• W4378171976 hasLocation W43781719762 @default.
• W4378171976 hasOpenAccess W4378171976 @default.
• W4378171976 hasPrimaryLocation W43781719761 @default.
• W4378171976 hasRelatedWork W2036468699 @default.
• W4378171976 hasRelatedWork W2041831812 @default.
• W4378171976 hasRelatedWork W2045767269 @default.
• W4378171976 hasRelatedWork W2089289524 @default.
• W4378171976 hasRelatedWork W2159173718 @default.
• W4378171976 hasRelatedWork W2498230174 @default.
• W4378171976 hasRelatedWork W2625779927 @default.
• W4378171976 hasRelatedWork W2795214204 @default.
• W4378171976 hasRelatedWork W4239726044 @default.
• W4378171976 hasRelatedWork W4361215031 @default.
• W4378171976 isParatext "false" @default.
• W4378171976 isRetracted "false" @default.

• next