FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3175496629> ?p ?o ?g. }

• W3175496629 abstract "Abstract Background Primary ciliary dyskinesia (PCD) is a rare, highly heterogeneous genetic disorder involving the impairment of motile cilia. With no single gold standard for PCD diagnosis and complicated multiorgan dysfunction, the diagnosis of PCD can be difficult in clinical settings. Some methods for diagnosis, such as nasal nitric oxide measurement and digital high-speed video microscopy with ciliary beat pattern analysis, can be expensive or unavailable. To confirm PCD diagnosis, we used a strategy combining assessment of typical symptoms with whole-exome sequencing (WES) and/or low-pass whole-genome sequencing (WGS) as an unbiased detection tool to identify known pathogenic mutations, novel variations, and copy number variations. Results A total of 26 individuals of Chinese origin with a confirmed PCD diagnosis aged 13 to 61 years (median age, 24.5 years) were included. Biallelic pathogenic mutations were identified in 19 of the 26 patients, including 8 recorded HGMD mutations and 24 novel mutations. The detection rate reached 73.1%. DNAH5 was the most frequently mutated gene, and c.8383C > T was the most common mutated variant, but it is relatively rare in PCD patients from other ethnic groups. Conclusion This study demonstrates the practical clinical utility of combining WES and low-pass WGS as a no-bias detecting tool in adult patients with PCD, showing a clinical characteristics and genetic spectrum of Chinese PCD patients." @default.
• W3175496629 created "2021-07-05" @default.
• W3175496629 creator A5004627830 @default.
• W3175496629 creator A5016278514 @default.
• W3175496629 creator A5020139919 @default.
• W3175496629 creator A5023494724 @default.
• W3175496629 creator A5075290500 @default.
• W3175496629 creator A5079674922 @default.
• W3175496629 creator A5083076234 @default.
• W3175496629 creator A5088974335 @default.
• W3175496629 creator A5091552812 @default.
• W3175496629 date "2021-07-01" @default.
• W3175496629 modified "2023-10-14" @default.
• W3175496629 title "Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia" @default.
• W3175496629 cites W1962634637 @default.
• W3175496629 cites W1980740976 @default.
• W3175496629 cites W1984068087 @default.
• W3175496629 cites W1992156315 @default.
• W3175496629 cites W1992323427 @default.
• W3175496629 cites W2011855956 @default.
• W3175496629 cites W2059145105 @default.
• W3175496629 cites W2059201371 @default.
• W3175496629 cites W2076357933 @default.
• W3175496629 cites W2088035217 @default.
• W3175496629 cites W2096766502 @default.
• W3175496629 cites W2103441770 @default.
• W3175496629 cites W2104549677 @default.
• W3175496629 cites W2104879907 @default.
• W3175496629 cites W2105898316 @default.
• W3175496629 cites W2108234281 @default.
• W3175496629 cites W2124713008 @default.
• W3175496629 cites W2153065499 @default.
• W3175496629 cites W2160995259 @default.
• W3175496629 cites W2165458408 @default.
• W3175496629 cites W2174602966 @default.
• W3175496629 cites W2256016639 @default.
• W3175496629 cites W2276513202 @default.
• W3175496629 cites W2319697074 @default.
• W3175496629 cites W2498494766 @default.
• W3175496629 cites W2554519038 @default.
• W3175496629 cites W2580887223 @default.
• W3175496629 cites W2588460531 @default.
• W3175496629 cites W2604078450 @default.
• W3175496629 cites W2624593079 @default.
• W3175496629 cites W2720897370 @default.
• W3175496629 cites W2767157762 @default.
• W3175496629 cites W2788468983 @default.
• W3175496629 cites W2792959183 @default.
• W3175496629 cites W2793671855 @default.
• W3175496629 cites W2804677703 @default.
• W3175496629 cites W2808504398 @default.
• W3175496629 cites W2885874790 @default.
• W3175496629 cites W2918762320 @default.
• W3175496629 cites W2961041124 @default.
• W3175496629 cites W2970293768 @default.
• W3175496629 cites W2982128615 @default.
• W3175496629 cites W2994842396 @default.
• W3175496629 cites W3011559931 @default.
• W3175496629 cites W3033621857 @default.
• W3175496629 cites W3040875459 @default.
• W3175496629 cites W3048157878 @default.
• W3175496629 cites W3132240796 @default.
• W3175496629 cites W4233698560 @default.
• W3175496629 cites W4294216483 @default.
• W3175496629 doi "https://doi.org/10.1186/s13023-021-01840-2" @default.
• W3175496629 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8252271" @default.
• W3175496629 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34210339" @default.
• W3175496629 hasPublicationYear "2021" @default.
• W3175496629 type Work @default.
• W3175496629 sameAs 3175496629 @default.
• W3175496629 citedByCount "7" @default.
• W3175496629 countsByYear W31754966292022 @default.
• W3175496629 countsByYear W31754966292023 @default.
• W3175496629 crossrefType "journal-article" @default.
• W3175496629 hasAuthorship W3175496629A5004627830 @default.
• W3175496629 hasAuthorship W3175496629A5016278514 @default.
• W3175496629 hasAuthorship W3175496629A5020139919 @default.
• W3175496629 hasAuthorship W3175496629A5023494724 @default.
• W3175496629 hasAuthorship W3175496629A5075290500 @default.
• W3175496629 hasAuthorship W3175496629A5079674922 @default.
• W3175496629 hasAuthorship W3175496629A5083076234 @default.
• W3175496629 hasAuthorship W3175496629A5088974335 @default.
• W3175496629 hasAuthorship W3175496629A5091552812 @default.
• W3175496629 hasBestOaLocation W31754966291 @default.
• W3175496629 hasConcept C100094513 @default.
• W3175496629 hasConcept C104317684 @default.
• W3175496629 hasConcept C126322002 @default.
• W3175496629 hasConcept C127716648 @default.
• W3175496629 hasConcept C141231307 @default.
• W3175496629 hasConcept C16671776 @default.
• W3175496629 hasConcept C23085057 @default.
• W3175496629 hasConcept C24432333 @default.
• W3175496629 hasConcept C2777714996 @default.
• W3175496629 hasConcept C2778206077 @default.
• W3175496629 hasConcept C2779379686 @default.
• W3175496629 hasConcept C2908520674 @default.
• W3175496629 hasConcept C2910722709 @default.
• W3175496629 hasConcept C2993153387 @default.
• W3175496629 hasConcept C501734568 @default.
• W3175496629 hasConcept C54355233 @default.

• next