FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2893121204> ?p ?o ?g. }

• W2893121204 endingPage "268" @default.
• W2893121204 startingPage "263" @default.
• W2893121204 abstract "Herein, we describe two members of one family who presented with recurrent episodes of hepatic failure, cerebellar ataxia, peripheral neuropathy, and short stature. Liver transplantation was considered. Whole-exome sequencing (Trio) revealed a synonymous variant in exon 4 of SCYL1:c.459C>T p. (Gly153Gly), which did not appear to affect the protein sequence. Computational prediction analysis suggested that this modification could alter the SCYL1 mRNA splicing processing to create a premature termination codon. The SCYL1 mRNAs in our patient's lymphocytes were analyzed and aberrant splicing was found. Molecular analysis of family members identified the parents as heterozygous recessive carriers and the proband as well as an affected aunt as homozygous. Evidently, harmless synonymous variants in the SCYL1 gene can damage gene splicing and hence the expression. We confirmed that the pathogenicity of this variant in the SCYL1 gene was associated with spinocerebellar ataxia, autosomal recessive 21 (SCAR21). Other reported cases (accept one) of liver failure found in the SCYL1 variants resolved during childhood, therefore orthotropic liver transplantation was no longer appropriate." @default.
• W2893121204 created "2018-10-05" @default.
• W2893121204 creator A5008264999 @default.
• W2893121204 creator A5009107158 @default.
• W2893121204 creator A5025656738 @default.
• W2893121204 creator A5052579976 @default.
• W2893121204 creator A5053946304 @default.
• W2893121204 creator A5065450842 @default.
• W2893121204 creator A5077653630 @default.
• W2893121204 creator A5077771327 @default.
• W2893121204 creator A5078203553 @default.
• W2893121204 date "2018-09-26" @default.
• W2893121204 modified "2023-10-09" @default.
• W2893121204 title "Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardation" @default.
• W2893121204 cites W2002999243 @default.
• W2893121204 cites W2054836352 @default.
• W2893121204 cites W2085630772 @default.
• W2893121204 cites W2094590914 @default.
• W2893121204 cites W2109621551 @default.
• W2893121204 cites W2114652731 @default.
• W2893121204 cites W2145203699 @default.
• W2893121204 cites W2175614705 @default.
• W2893121204 cites W2256016639 @default.
• W2893121204 cites W2288337573 @default.
• W2893121204 cites W2578052607 @default.
• W2893121204 cites W2742600815 @default.
• W2893121204 cites W2786112464 @default.
• W2893121204 doi "https://doi.org/10.1038/s41431-018-0268-2" @default.
• W2893121204 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6336772" @default.
• W2893121204 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30258122" @default.
• W2893121204 hasPublicationYear "2018" @default.
• W2893121204 type Work @default.
• W2893121204 sameAs 2893121204 @default.
• W2893121204 citedByCount "19" @default.
• W2893121204 countsByYear W28931212042019 @default.
• W2893121204 countsByYear W28931212042020 @default.
• W2893121204 countsByYear W28931212042021 @default.
• W2893121204 countsByYear W28931212042022 @default.
• W2893121204 countsByYear W28931212042023 @default.
• W2893121204 crossrefType "journal-article" @default.
• W2893121204 hasAuthorship W2893121204A5008264999 @default.
• W2893121204 hasAuthorship W2893121204A5009107158 @default.
• W2893121204 hasAuthorship W2893121204A5025656738 @default.
• W2893121204 hasAuthorship W2893121204A5052579976 @default.
• W2893121204 hasAuthorship W2893121204A5053946304 @default.
• W2893121204 hasAuthorship W2893121204A5065450842 @default.
• W2893121204 hasAuthorship W2893121204A5077653630 @default.
• W2893121204 hasAuthorship W2893121204A5077771327 @default.
• W2893121204 hasAuthorship W2893121204A5078203553 @default.
• W2893121204 hasBestOaLocation W28931212041 @default.
• W2893121204 hasConcept C104317684 @default.
• W2893121204 hasConcept C134018914 @default.
• W2893121204 hasConcept C16671776 @default.
• W2893121204 hasConcept C169760540 @default.
• W2893121204 hasConcept C188997412 @default.
• W2893121204 hasConcept C194583182 @default.
• W2893121204 hasConcept C2777871287 @default.
• W2893121204 hasConcept C2778776201 @default.
• W2893121204 hasConcept C2780148635 @default.
• W2893121204 hasConcept C2780906641 @default.
• W2893121204 hasConcept C36823959 @default.
• W2893121204 hasConcept C501734568 @default.
• W2893121204 hasConcept C54355233 @default.
• W2893121204 hasConcept C54458228 @default.
• W2893121204 hasConcept C67705224 @default.
• W2893121204 hasConcept C86803240 @default.
• W2893121204 hasConceptScore W2893121204C104317684 @default.
• W2893121204 hasConceptScore W2893121204C134018914 @default.
• W2893121204 hasConceptScore W2893121204C16671776 @default.
• W2893121204 hasConceptScore W2893121204C169760540 @default.
• W2893121204 hasConceptScore W2893121204C188997412 @default.
• W2893121204 hasConceptScore W2893121204C194583182 @default.
• W2893121204 hasConceptScore W2893121204C2777871287 @default.
• W2893121204 hasConceptScore W2893121204C2778776201 @default.
• W2893121204 hasConceptScore W2893121204C2780148635 @default.
• W2893121204 hasConceptScore W2893121204C2780906641 @default.
• W2893121204 hasConceptScore W2893121204C36823959 @default.
• W2893121204 hasConceptScore W2893121204C501734568 @default.
• W2893121204 hasConceptScore W2893121204C54355233 @default.
• W2893121204 hasConceptScore W2893121204C54458228 @default.
• W2893121204 hasConceptScore W2893121204C67705224 @default.
• W2893121204 hasConceptScore W2893121204C86803240 @default.
• W2893121204 hasIssue "2" @default.
• W2893121204 hasLocation W28931212041 @default.
• W2893121204 hasLocation W28931212042 @default.
• W2893121204 hasLocation W28931212043 @default.
• W2893121204 hasLocation W28931212044 @default.
• W2893121204 hasOpenAccess W2893121204 @default.
• W2893121204 hasPrimaryLocation W28931212041 @default.
• W2893121204 hasRelatedWork W2103521510 @default.
• W2893121204 hasRelatedWork W2151078655 @default.
• W2893121204 hasRelatedWork W2168667792 @default.
• W2893121204 hasRelatedWork W2362650105 @default.
• W2893121204 hasRelatedWork W2417766600 @default.
• W2893121204 hasRelatedWork W2418981116 @default.
• W2893121204 hasRelatedWork W2564462691 @default.
• W2893121204 hasRelatedWork W2733300197 @default.
• W2893121204 hasRelatedWork W2800838080 @default.

• next