FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2985005852> ?p ?o ?g. }

• W2985005852 endingPage "253" @default.
• W2985005852 startingPage "245" @default.
• W2985005852 abstract "Background 3C/Ritscher-Schinzel syndrome is characterised by congenital cranio-cerebello-cardiac dysplasia, where CCDC22 and WASHC5 are accepted as the causative genes. In combination with the retromer or retriever complex, these genes play a role in endosomal membrane protein recycling. We aimed to identify the gene abnormality responsible for the pathogenicity in siblings with a 3C/Ritscher-Schinzel-like syndrome, displaying cranio-cerebello-cardiac dysplasia, coloboma, microphthalmia, chondrodysplasia punctata and complicated skeletal malformation. Methods Exome sequencing was performed to identify pathogenic variants. Cellular biological analyses and generation of knockout mice were carried out to elucidate the gene function and pathophysiological significance of the identified variants. Results We identified compound heterozygous pathogenic variants (c.1097dup; p.Cys366Trpfs*28 and c.2755G>A; p.Ala919Thr) in the VPS35L gene, which encodes a core protein of the retriever complex. The identified missense variant lacked the ability to form the retriever complex, and the frameshift variant induced non-sense-mediated mRNA decay, thereby confirming biallelic loss of function of VPS35L. In addition, VPS35L knockout cells showed decreased autophagic function in nutrient-rich and starvation conditions, as well as following treatment with Torin 1. We also generated Vps35l −/− mice and demonstrated that they were embryonic lethal at an early stage, between E7.5 and E10.5. Conclusions Our results suggest that biallelic loss-of-function variants in VPS35L underlies 3C/Ritscher-Schinzel-like syndrome. Furthermore, VPS35L is necessary for autophagic function and essential for early embryonic development. The data presented here provide a new insight into the critical role of the retriever complex in fetal development." @default.
• W2985005852 created "2019-11-22" @default.
• W2985005852 creator A5012686649 @default.
• W2985005852 creator A5018784643 @default.
• W2985005852 creator A5019537702 @default.
• W2985005852 creator A5020984709 @default.
• W2985005852 creator A5039399067 @default.
• W2985005852 creator A5061471754 @default.
• W2985005852 creator A5063636538 @default.
• W2985005852 creator A5069881702 @default.
• W2985005852 creator A5070765364 @default.
• W2985005852 creator A5077700276 @default.
• W2985005852 creator A5080732502 @default.
• W2985005852 creator A5081874952 @default.
• W2985005852 date "2019-11-11" @default.
• W2985005852 modified "2023-10-07" @default.
• W2985005852 title "Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex" @default.
• W2985005852 cites W1864669235 @default.
• W2985005852 cites W1953962861 @default.
• W2985005852 cites W1967828638 @default.
• W2985005852 cites W1977767269 @default.
• W2985005852 cites W1983044117 @default.
• W2985005852 cites W1983301605 @default.
• W2985005852 cites W1993201929 @default.
• W2985005852 cites W2003443990 @default.
• W2985005852 cites W2022168017 @default.
• W2985005852 cites W2037197093 @default.
• W2985005852 cites W2044947606 @default.
• W2985005852 cites W2055880336 @default.
• W2985005852 cites W2057767393 @default.
• W2985005852 cites W2058888442 @default.
• W2985005852 cites W2061076810 @default.
• W2985005852 cites W2064815984 @default.
• W2985005852 cites W2065341127 @default.
• W2985005852 cites W2066978303 @default.
• W2985005852 cites W2077731318 @default.
• W2985005852 cites W2081014274 @default.
• W2985005852 cites W2094539919 @default.
• W2985005852 cites W2099472310 @default.
• W2985005852 cites W2102278945 @default.
• W2985005852 cites W2116446373 @default.
• W2985005852 cites W2121960517 @default.
• W2985005852 cites W2123685783 @default.
• W2985005852 cites W2131271579 @default.
• W2985005852 cites W2141859364 @default.
• W2985005852 cites W2150669288 @default.
• W2985005852 cites W2152239989 @default.
• W2985005852 cites W2314207955 @default.
• W2985005852 cites W2754145575 @default.
• W2985005852 cites W2770746499 @default.
• W2985005852 cites W2904196163 @default.
• W2985005852 doi "https://doi.org/10.1136/jmedgenet-2019-106213" @default.
• W2985005852 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31712251" @default.
• W2985005852 hasPublicationYear "2019" @default.
• W2985005852 type Work @default.
• W2985005852 sameAs 2985005852 @default.
• W2985005852 citedByCount "24" @default.
• W2985005852 countsByYear W29850058522020 @default.
• W2985005852 countsByYear W29850058522021 @default.
• W2985005852 countsByYear W29850058522022 @default.
• W2985005852 countsByYear W29850058522023 @default.
• W2985005852 crossrefType "journal-article" @default.
• W2985005852 hasAuthorship W2985005852A5012686649 @default.
• W2985005852 hasAuthorship W2985005852A5018784643 @default.
• W2985005852 hasAuthorship W2985005852A5019537702 @default.
• W2985005852 hasAuthorship W2985005852A5020984709 @default.
• W2985005852 hasAuthorship W2985005852A5039399067 @default.
• W2985005852 hasAuthorship W2985005852A5061471754 @default.
• W2985005852 hasAuthorship W2985005852A5063636538 @default.
• W2985005852 hasAuthorship W2985005852A5069881702 @default.
• W2985005852 hasAuthorship W2985005852A5070765364 @default.
• W2985005852 hasAuthorship W2985005852A5077700276 @default.
• W2985005852 hasAuthorship W2985005852A5080732502 @default.
• W2985005852 hasAuthorship W2985005852A5081874952 @default.
• W2985005852 hasConcept C104317684 @default.
• W2985005852 hasConcept C105951970 @default.
• W2985005852 hasConcept C12125453 @default.
• W2985005852 hasConcept C127716648 @default.
• W2985005852 hasConcept C16671776 @default.
• W2985005852 hasConcept C2777304866 @default.
• W2985005852 hasConcept C2778085061 @default.
• W2985005852 hasConcept C29906990 @default.
• W2985005852 hasConcept C501734568 @default.
• W2985005852 hasConcept C54355233 @default.
• W2985005852 hasConcept C75563809 @default.
• W2985005852 hasConcept C77957584 @default.
• W2985005852 hasConcept C86803240 @default.
• W2985005852 hasConceptScore W2985005852C104317684 @default.
• W2985005852 hasConceptScore W2985005852C105951970 @default.
• W2985005852 hasConceptScore W2985005852C12125453 @default.
• W2985005852 hasConceptScore W2985005852C127716648 @default.
• W2985005852 hasConceptScore W2985005852C16671776 @default.
• W2985005852 hasConceptScore W2985005852C2777304866 @default.
• W2985005852 hasConceptScore W2985005852C2778085061 @default.
• W2985005852 hasConceptScore W2985005852C29906990 @default.
• W2985005852 hasConceptScore W2985005852C501734568 @default.
• W2985005852 hasConceptScore W2985005852C54355233 @default.
• W2985005852 hasConceptScore W2985005852C75563809 @default.

• next