FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2018698545> ?p ?o ?g. }

• W2018698545 endingPage "e59436" @default.
• W2018698545 startingPage "e59436" @default.
• W2018698545 abstract "Despite recent progress in defining the ciliome, the genetic basis for many cases of primary ciliary dyskinesia (PCD) remains elusive. We evaluated five children from two unrelated, consanguineous Palestinian families who had PCD with typical clinical features, reduced nasal nitric oxide concentrations, and absent dynein arms. Linkage analyses revealed a single common homozygous region on chromosome 8 and one candidate was conserved in organisms with motile cilia. Sequencing revealed a single novel mutation in LRRC6 (Leucine-rich repeat containing protein 6) that fit the model of autosomal recessive genetic transmission, leading to a change of a highly conserved amino acid from aspartic acid to histidine (Asp146His). LRRC6 was localized to the cytoplasm and was up-regulated during ciliogenesis in human airway epithelial cells in a Foxj1-dependent fashion. Nasal epithelial cells isolated from affected individuals and shRNA-mediated silencing in human airway epithelial cells, showed reduced LRRC6 expression, absent dynein arms, and slowed cilia beat frequency. Dynein arm proteins were either absent or mislocalized to the cytoplasm in airway epithelial cells from a primary ciliary dyskinesia subject. These findings suggest that LRRC6 plays a role in dynein arm assembly or trafficking and when mutated leads to primary ciliary dyskinesia with laterality defects." @default.
• W2018698545 created "2016-06-24" @default.
• W2018698545 creator A5016355952 @default.
• W2018698545 creator A5029172221 @default.
• W2018698545 creator A5031090086 @default.
• W2018698545 creator A5033572261 @default.
• W2018698545 creator A5036335582 @default.
• W2018698545 creator A5050717373 @default.
• W2018698545 creator A5052847233 @default.
• W2018698545 creator A5065657566 @default.
• W2018698545 creator A5073775080 @default.
• W2018698545 creator A5080795341 @default.
• W2018698545 creator A5086943023 @default.
• W2018698545 creator A5091283227 @default.
• W2018698545 date "2013-03-19" @default.
• W2018698545 modified "2023-09-26" @default.
• W2018698545 title "LRRC6 Mutation Causes Primary Ciliary Dyskinesia with Dynein Arm Defects" @default.
• W2018698545 cites W1597533137 @default.
• W2018698545 cites W1967087018 @default.
• W2018698545 cites W1970938670 @default.
• W2018698545 cites W1973673010 @default.
• W2018698545 cites W1977301516 @default.
• W2018698545 cites W1981045929 @default.
• W2018698545 cites W1982682976 @default.
• W2018698545 cites W1983538981 @default.
• W2018698545 cites W1983831423 @default.
• W2018698545 cites W1986812962 @default.
• W2018698545 cites W1987959828 @default.
• W2018698545 cites W2000132916 @default.
• W2018698545 cites W2006138810 @default.
• W2018698545 cites W2009954049 @default.
• W2018698545 cites W2011697505 @default.
• W2018698545 cites W2016504972 @default.
• W2018698545 cites W2022192316 @default.
• W2018698545 cites W2024088826 @default.
• W2018698545 cites W2024438817 @default.
• W2018698545 cites W2024983197 @default.
• W2018698545 cites W2027211393 @default.
• W2018698545 cites W2028175803 @default.
• W2018698545 cites W2028183762 @default.
• W2018698545 cites W2036963968 @default.
• W2018698545 cites W2037174767 @default.
• W2018698545 cites W2041085963 @default.
• W2018698545 cites W2043260108 @default.
• W2018698545 cites W2047078034 @default.
• W2018698545 cites W2055280361 @default.
• W2018698545 cites W2064659330 @default.
• W2018698545 cites W2097415182 @default.
• W2018698545 cites W2099820232 @default.
• W2018698545 cites W2103344845 @default.
• W2018698545 cites W2104946337 @default.
• W2018698545 cites W2105898316 @default.
• W2018698545 cites W2107219435 @default.
• W2018698545 cites W2110052626 @default.
• W2018698545 cites W2111054908 @default.
• W2018698545 cites W2115068324 @default.
• W2018698545 cites W2115235864 @default.
• W2018698545 cites W2121780565 @default.
• W2018698545 cites W2136801676 @default.
• W2018698545 cites W2152936822 @default.
• W2018698545 cites W2153419628 @default.
• W2018698545 cites W2162027978 @default.
• W2018698545 cites W2164392654 @default.
• W2018698545 cites W2165134997 @default.
• W2018698545 cites W2166977115 @default.
• W2018698545 cites W2169088269 @default.
• W2018698545 cites W4230115907 @default.
• W2018698545 cites W4231842162 @default.
• W2018698545 cites W4233334497 @default.
• W2018698545 doi "https://doi.org/10.1371/journal.pone.0059436" @default.
• W2018698545 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3602302" @default.
• W2018698545 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23527195" @default.
• W2018698545 hasPublicationYear "2013" @default.
• W2018698545 type Work @default.
• W2018698545 sameAs 2018698545 @default.
• W2018698545 citedByCount "85" @default.
• W2018698545 countsByYear W20186985452012 @default.
• W2018698545 countsByYear W20186985452013 @default.
• W2018698545 countsByYear W20186985452014 @default.
• W2018698545 countsByYear W20186985452015 @default.
• W2018698545 countsByYear W20186985452016 @default.
• W2018698545 countsByYear W20186985452017 @default.
• W2018698545 countsByYear W20186985452018 @default.
• W2018698545 countsByYear W20186985452019 @default.
• W2018698545 countsByYear W20186985452020 @default.
• W2018698545 countsByYear W20186985452021 @default.
• W2018698545 countsByYear W20186985452022 @default.
• W2018698545 countsByYear W20186985452023 @default.
• W2018698545 crossrefType "journal-article" @default.
• W2018698545 hasAuthorship W2018698545A5016355952 @default.
• W2018698545 hasAuthorship W2018698545A5029172221 @default.
• W2018698545 hasAuthorship W2018698545A5031090086 @default.
• W2018698545 hasAuthorship W2018698545A5033572261 @default.
• W2018698545 hasAuthorship W2018698545A5036335582 @default.
• W2018698545 hasAuthorship W2018698545A5050717373 @default.
• W2018698545 hasAuthorship W2018698545A5052847233 @default.
• W2018698545 hasAuthorship W2018698545A5065657566 @default.
• W2018698545 hasAuthorship W2018698545A5073775080 @default.

• next