Matches in SemOpenAlex for { <https://semopenalex.org/work/W2028183762> ?p ?o ?g. }
- W2028183762 endingPage "78" @default.
- W2028183762 startingPage "72" @default.
- W2028183762 abstract "Primary ciliary dyskinesia (PCD) is an inherited disorder characterized by recurrent infections of the upper and lower respiratory tract, reduced fertility in males and situs inversus in about 50% of affected individuals (Kartagener syndrome). It is caused by motility defects in the respiratory cilia that are responsible for airway clearance, the flagella that propel sperm cells and the nodal monocilia that determine left-right asymmetry. Recessive mutations that cause PCD have been identified in genes encoding components of the outer dynein arms, radial spokes and cytoplasmic pre-assembly factors of axonemal dyneins, but these mutations account for only about 50% of cases of PCD. We exploited the unique properties of dog populations to positionally clone a new PCD gene, CCDC39. We found that loss-of-function mutations in the human ortholog underlie a substantial fraction of PCD cases with axonemal disorganization and abnormal ciliary beating. Functional analyses indicated that CCDC39 localizes to ciliary axonemes and is essential for assembly of inner dynein arms and the dynein regulatory complex." @default.
- W2028183762 created "2016-06-24" @default.
- W2028183762 creator A5000413685 @default.
- W2028183762 creator A5000519448 @default.
- W2028183762 creator A5002056808 @default.
- W2028183762 creator A5002534679 @default.
- W2028183762 creator A5004181807 @default.
- W2028183762 creator A5006016461 @default.
- W2028183762 creator A5006227070 @default.
- W2028183762 creator A5009715019 @default.
- W2028183762 creator A5014083545 @default.
- W2028183762 creator A5016832132 @default.
- W2028183762 creator A5020221785 @default.
- W2028183762 creator A5027086095 @default.
- W2028183762 creator A5029172221 @default.
- W2028183762 creator A5029437047 @default.
- W2028183762 creator A5030905866 @default.
- W2028183762 creator A5031853048 @default.
- W2028183762 creator A5033536108 @default.
- W2028183762 creator A5037042892 @default.
- W2028183762 creator A5039704259 @default.
- W2028183762 creator A5041442452 @default.
- W2028183762 creator A5043036999 @default.
- W2028183762 creator A5044937916 @default.
- W2028183762 creator A5045033593 @default.
- W2028183762 creator A5045902442 @default.
- W2028183762 creator A5047263678 @default.
- W2028183762 creator A5052136676 @default.
- W2028183762 creator A5054291480 @default.
- W2028183762 creator A5061881772 @default.
- W2028183762 creator A5062869267 @default.
- W2028183762 creator A5066530416 @default.
- W2028183762 creator A5067108473 @default.
- W2028183762 creator A5069238811 @default.
- W2028183762 creator A5070413566 @default.
- W2028183762 creator A5075279504 @default.
- W2028183762 creator A5077230360 @default.
- W2028183762 creator A5078783181 @default.
- W2028183762 creator A5079249913 @default.
- W2028183762 creator A5080576317 @default.
- W2028183762 creator A5081401174 @default.
- W2028183762 creator A5087055286 @default.
- W2028183762 creator A5088250444 @default.
- W2028183762 creator A5088818990 @default.
- W2028183762 creator A5089008865 @default.
- W2028183762 creator A5090814913 @default.
- W2028183762 date "2010-12-05" @default.
- W2028183762 modified "2023-10-10" @default.
- W2028183762 title "CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs" @default.
- W2028183762 cites W1964729377 @default.
- W2028183762 cites W1967087018 @default.
- W2028183762 cites W1983831423 @default.
- W2028183762 cites W1988632377 @default.
- W2028183762 cites W1995270654 @default.
- W2028183762 cites W2000467705 @default.
- W2028183762 cites W2005148604 @default.
- W2028183762 cites W2011697505 @default.
- W2028183762 cites W2015980205 @default.
- W2028183762 cites W2017068376 @default.
- W2028183762 cites W2020352822 @default.
- W2028183762 cites W2021795499 @default.
- W2028183762 cites W2028175803 @default.
- W2028183762 cites W2041085963 @default.
- W2028183762 cites W2043107286 @default.
- W2028183762 cites W2047078034 @default.
- W2028183762 cites W2064659330 @default.
- W2028183762 cites W2082593163 @default.
- W2028183762 cites W2094703169 @default.
- W2028183762 cites W2097455861 @default.
- W2028183762 cites W2101070228 @default.
- W2028183762 cites W2103676950 @default.
- W2028183762 cites W2108999119 @default.
- W2028183762 cites W2110188291 @default.
- W2028183762 cites W2142521689 @default.
- W2028183762 cites W2148022231 @default.
- W2028183762 cites W2166977115 @default.
- W2028183762 cites W2167610910 @default.
- W2028183762 cites W2169101403 @default.
- W2028183762 doi "https://doi.org/10.1038/ng.726" @default.
- W2028183762 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3509786" @default.
- W2028183762 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21131972" @default.
- W2028183762 hasPublicationYear "2010" @default.
- W2028183762 type Work @default.
- W2028183762 sameAs 2028183762 @default.
- W2028183762 citedByCount "289" @default.
- W2028183762 countsByYear W20281837622012 @default.
- W2028183762 countsByYear W20281837622013 @default.
- W2028183762 countsByYear W20281837622014 @default.
- W2028183762 countsByYear W20281837622015 @default.
- W2028183762 countsByYear W20281837622016 @default.
- W2028183762 countsByYear W20281837622017 @default.
- W2028183762 countsByYear W20281837622018 @default.
- W2028183762 countsByYear W20281837622019 @default.
- W2028183762 countsByYear W20281837622020 @default.
- W2028183762 countsByYear W20281837622021 @default.
- W2028183762 countsByYear W20281837622022 @default.
- W2028183762 countsByYear W20281837622023 @default.
- W2028183762 crossrefType "journal-article" @default.