FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2265278001> ?p ?o ?g. }

• W2265278001 endingPage "213" @default.
• W2265278001 startingPage "207" @default.
• W2265278001 abstract "Osteogenesis imperfecta (OI, MIM 610968 ) is a genetically and clinically heterogeneous disorder characterized by bone fragility. It is one of the rare forms of skeletal deformity caused by sequence variants in at least 14 different genes, including FKBP10 ( MIM 607063 ) encoding protein FKBP65. Here we present three consanguineous families of Pakistani origin segregating OI in an autosomal-recessive pattern. Genotyping using either single-nucleotide polymorphism markers by Affymetrix GeneChip Human Mapping 250K Nsp array or polymorphic microsatellite markers revealed a homozygous region, containing a candidate gene FKBP10, among affected members on chromosome 17q21.2. Sequencing the FKBP10 gene revealed a homozygous novel nonsense variant (c.1490G>A, p.Trp497*) in the family A and two previously reported variants, including a missense (c.344G>A, p.Arg115Gln), in the family B and duplication of a nucleotide C (c.831dupC, p.Gly278ArgfsX295) in the family C. Our findings further extend the body of evidence that supports the importance of FKBP10 gene in the development of skeletal system." @default.
• W2265278001 created "2016-06-24" @default.
• W2265278001 creator A5008904019 @default.
• W2265278001 creator A5010990667 @default.
• W2265278001 creator A5014079273 @default.
• W2265278001 creator A5024263703 @default.
• W2265278001 creator A5037509365 @default.
• W2265278001 creator A5044165610 @default.
• W2265278001 creator A5062165127 @default.
• W2265278001 creator A5091213965 @default.
• W2265278001 date "2015-11-05" @default.
• W2265278001 modified "2023-10-13" @default.
• W2265278001 title "Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families" @default.
• W2265278001 cites W1966592901 @default.
• W2265278001 cites W1969051840 @default.
• W2265278001 cites W1972778135 @default.
• W2265278001 cites W1978162436 @default.
• W2265278001 cites W1983158422 @default.
• W2265278001 cites W1991799084 @default.
• W2265278001 cites W1994998604 @default.
• W2265278001 cites W2017478932 @default.
• W2265278001 cites W2028431091 @default.
• W2265278001 cites W2034337754 @default.
• W2265278001 cites W2037355188 @default.
• W2265278001 cites W2039833863 @default.
• W2265278001 cites W2050428817 @default.
• W2265278001 cites W2081532734 @default.
• W2265278001 cites W2091387723 @default.
• W2265278001 cites W2104148241 @default.
• W2265278001 cites W2104179364 @default.
• W2265278001 cites W2123544412 @default.
• W2265278001 cites W2126058718 @default.
• W2265278001 cites W2128236902 @default.
• W2265278001 cites W2147016321 @default.
• W2265278001 cites W2164493723 @default.
• W2265278001 cites W2164556807 @default.
• W2265278001 doi "https://doi.org/10.1038/jhg.2015.129" @default.
• W2265278001 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26538303" @default.
• W2265278001 hasPublicationYear "2015" @default.
• W2265278001 type Work @default.
• W2265278001 sameAs 2265278001 @default.
• W2265278001 citedByCount "24" @default.
• W2265278001 countsByYear W22652780012016 @default.
• W2265278001 countsByYear W22652780012017 @default.
• W2265278001 countsByYear W22652780012018 @default.
• W2265278001 countsByYear W22652780012019 @default.
• W2265278001 countsByYear W22652780012020 @default.
• W2265278001 countsByYear W22652780012021 @default.
• W2265278001 countsByYear W22652780012022 @default.
• W2265278001 countsByYear W22652780012023 @default.
• W2265278001 crossrefType "journal-article" @default.
• W2265278001 hasAuthorship W2265278001A5008904019 @default.
• W2265278001 hasAuthorship W2265278001A5010990667 @default.
• W2265278001 hasAuthorship W2265278001A5014079273 @default.
• W2265278001 hasAuthorship W2265278001A5024263703 @default.
• W2265278001 hasAuthorship W2265278001A5037509365 @default.
• W2265278001 hasAuthorship W2265278001A5044165610 @default.
• W2265278001 hasAuthorship W2265278001A5062165127 @default.
• W2265278001 hasAuthorship W2265278001A5091213965 @default.
• W2265278001 hasBestOaLocation W22652780011 @default.
• W2265278001 hasConcept C104317684 @default.
• W2265278001 hasConcept C105702510 @default.
• W2265278001 hasConcept C135763542 @default.
• W2265278001 hasConcept C153209595 @default.
• W2265278001 hasConcept C16671776 @default.
• W2265278001 hasConcept C2777668750 @default.
• W2265278001 hasConcept C501734568 @default.
• W2265278001 hasConcept C54355233 @default.
• W2265278001 hasConcept C62923972 @default.
• W2265278001 hasConcept C69991583 @default.
• W2265278001 hasConcept C75563809 @default.
• W2265278001 hasConcept C7602840 @default.
• W2265278001 hasConcept C86803240 @default.
• W2265278001 hasConceptScore W2265278001C104317684 @default.
• W2265278001 hasConceptScore W2265278001C105702510 @default.
• W2265278001 hasConceptScore W2265278001C135763542 @default.
• W2265278001 hasConceptScore W2265278001C153209595 @default.
• W2265278001 hasConceptScore W2265278001C16671776 @default.
• W2265278001 hasConceptScore W2265278001C2777668750 @default.
• W2265278001 hasConceptScore W2265278001C501734568 @default.
• W2265278001 hasConceptScore W2265278001C54355233 @default.
• W2265278001 hasConceptScore W2265278001C62923972 @default.
• W2265278001 hasConceptScore W2265278001C69991583 @default.
• W2265278001 hasConceptScore W2265278001C75563809 @default.
• W2265278001 hasConceptScore W2265278001C7602840 @default.
• W2265278001 hasConceptScore W2265278001C86803240 @default.
• W2265278001 hasIssue "3" @default.
• W2265278001 hasLocation W22652780011 @default.
• W2265278001 hasLocation W22652780012 @default.
• W2265278001 hasOpenAccess W2265278001 @default.
• W2265278001 hasPrimaryLocation W22652780011 @default.
• W2265278001 hasRelatedWork W1555531624 @default.
• W2265278001 hasRelatedWork W1923855798 @default.
• W2265278001 hasRelatedWork W1988368560 @default.
• W2265278001 hasRelatedWork W2045767269 @default.
• W2265278001 hasRelatedWork W2076006594 @default.
• W2265278001 hasRelatedWork W2086815562 @default.
• W2265278001 hasRelatedWork W2588776163 @default.

• next