FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2807578681> ?p ?o ?g. }

• W2807578681 abstract "Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder caused by germline mutations in the folliculin gene (FLCN). Nearly 150 pathogenic mutations have been identified in FLCN. The most frequent pattern is a frameshift mutation within a coding exon. In addition, splice-site mutations have been reported, and previous studies have confirmed exon skipping in several cases. However, it is poorly understood whether there are any splice-site mutations that cause translation of intron regions in FLCN.A 59-year-old Japanese patient with multiple pulmonary cysts and pneumothorax was hospitalized due to dyspnea. BHD was suspected and genetic testing was performed. The patient exhibited the splice-site mutation of FLCN in the 5' end of intron 9 (c.1062 + 1G > A). Total mRNA was extracted from pulmonary cysts, and RT-PCR assessment and sequence analyses were done. Two distinct bands were generated; one was wild-type and the other was a larger-sized mutant. Sequence analysis of the latter transcript revealed the insertion of 130 base pairs of intron 9 from the beginning of the splice-site between exons 9 and 10.To our knowledge, this is the first report of distinct intron insertion using a BHD patient's diseased tissue-derived mRNA. The present case suggests that a splice-site mutation can lead to exon skipping as well as intron reading mRNA. The splicing process may be dependent in part on whether the donor or acceptor site is affected." @default.
• W2807578681 created "2018-06-13" @default.
• W2807578681 creator A5000713809 @default.
• W2807578681 creator A5018461350 @default.
• W2807578681 creator A5023519370 @default.
• W2807578681 creator A5034493951 @default.
• W2807578681 creator A5055610583 @default.
• W2807578681 creator A5081649988 @default.
• W2807578681 date "2018-05-02" @default.
• W2807578681 modified "2023-10-12" @default.
• W2807578681 title "Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report" @default.
• W2807578681 cites W1491032989 @default.
• W2807578681 cites W1967807729 @default.
• W2807578681 cites W1969989556 @default.
• W2807578681 cites W1973201313 @default.
• W2807578681 cites W1981403280 @default.
• W2807578681 cites W2003010123 @default.
• W2807578681 cites W2021793290 @default.
• W2807578681 cites W2028568090 @default.
• W2807578681 cites W2032848771 @default.
• W2807578681 cites W2042988557 @default.
• W2807578681 cites W2101502221 @default.
• W2807578681 cites W2105072427 @default.
• W2807578681 cites W2107960245 @default.
• W2807578681 cites W2111469008 @default.
• W2807578681 cites W2112666000 @default.
• W2807578681 cites W2113366117 @default.
• W2807578681 cites W2118309199 @default.
• W2807578681 cites W2119884717 @default.
• W2807578681 cites W2132463881 @default.
• W2807578681 cites W2136801352 @default.
• W2807578681 cites W2141217937 @default.
• W2807578681 cites W2151753522 @default.
• W2807578681 cites W2165968457 @default.
• W2807578681 cites W2170486847 @default.
• W2807578681 cites W2247166227 @default.
• W2807578681 cites W2270283872 @default.
• W2807578681 cites W2399320743 @default.
• W2807578681 cites W2413711890 @default.
• W2807578681 cites W2531559193 @default.
• W2807578681 cites W2554143456 @default.
• W2807578681 doi "https://doi.org/10.1186/s12920-018-0359-5" @default.
• W2807578681 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5930857" @default.
• W2807578681 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29720200" @default.
• W2807578681 hasPublicationYear "2018" @default.
• W2807578681 type Work @default.
• W2807578681 sameAs 2807578681 @default.
• W2807578681 citedByCount "10" @default.
• W2807578681 countsByYear W28075786812019 @default.
• W2807578681 countsByYear W28075786812020 @default.
• W2807578681 countsByYear W28075786812021 @default.
• W2807578681 countsByYear W28075786812022 @default.
• W2807578681 countsByYear W28075786812023 @default.
• W2807578681 crossrefType "journal-article" @default.
• W2807578681 hasAuthorship W2807578681A5000713809 @default.
• W2807578681 hasAuthorship W2807578681A5018461350 @default.
• W2807578681 hasAuthorship W2807578681A5023519370 @default.
• W2807578681 hasAuthorship W2807578681A5034493951 @default.
• W2807578681 hasAuthorship W2807578681A5055610583 @default.
• W2807578681 hasAuthorship W2807578681A5081649988 @default.
• W2807578681 hasBestOaLocation W28075786811 @default.
• W2807578681 hasConcept C104317684 @default.
• W2807578681 hasConcept C105702510 @default.
• W2807578681 hasConcept C13514818 @default.
• W2807578681 hasConcept C153911025 @default.
• W2807578681 hasConcept C194583182 @default.
• W2807578681 hasConcept C2777055284 @default.
• W2807578681 hasConcept C2778329176 @default.
• W2807578681 hasConcept C2778776201 @default.
• W2807578681 hasConcept C2780989783 @default.
• W2807578681 hasConcept C29906990 @default.
• W2807578681 hasConcept C36823959 @default.
• W2807578681 hasConcept C501734568 @default.
• W2807578681 hasConcept C54355233 @default.
• W2807578681 hasConcept C54458228 @default.
• W2807578681 hasConcept C62257209 @default.
• W2807578681 hasConcept C67705224 @default.
• W2807578681 hasConcept C86803240 @default.
• W2807578681 hasConcept C94671646 @default.
• W2807578681 hasConcept C97329493 @default.
• W2807578681 hasConceptScore W2807578681C104317684 @default.
• W2807578681 hasConceptScore W2807578681C105702510 @default.
• W2807578681 hasConceptScore W2807578681C13514818 @default.
• W2807578681 hasConceptScore W2807578681C153911025 @default.
• W2807578681 hasConceptScore W2807578681C194583182 @default.
• W2807578681 hasConceptScore W2807578681C2777055284 @default.
• W2807578681 hasConceptScore W2807578681C2778329176 @default.
• W2807578681 hasConceptScore W2807578681C2778776201 @default.
• W2807578681 hasConceptScore W2807578681C2780989783 @default.
• W2807578681 hasConceptScore W2807578681C29906990 @default.
• W2807578681 hasConceptScore W2807578681C36823959 @default.
• W2807578681 hasConceptScore W2807578681C501734568 @default.
• W2807578681 hasConceptScore W2807578681C54355233 @default.
• W2807578681 hasConceptScore W2807578681C54458228 @default.
• W2807578681 hasConceptScore W2807578681C62257209 @default.
• W2807578681 hasConceptScore W2807578681C67705224 @default.
• W2807578681 hasConceptScore W2807578681C86803240 @default.
• W2807578681 hasConceptScore W2807578681C94671646 @default.
• W2807578681 hasConceptScore W2807578681C97329493 @default.
• W2807578681 hasIssue "1" @default.

• next