FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3048883311> ?p ?o ?g. }

• W3048883311 endingPage "22" @default.
• W3048883311 startingPage "22" @default.
• W3048883311 abstract "To determine whether rare copy number variants (CNVs) increase risk for comitant esotropia.CNVs were identified in 1614 Caucasian individuals with comitant esotropia and 3922 Caucasian controls from Illumina SNP genotyping using two Hidden Markov model (HMM) algorithms, PennCNV and QuantiSNP, which call CNVs based on logR ratio and B allele frequency. Deletions and duplications greater than 10 kb were included. Common CNVs were excluded. Association testing was performed with 1 million permutations in PLINK. Significant CNVs were confirmed with digital droplet polymerase chain reaction (ddPCR). Whole genome sequencing was performed to determine insertion location and breakpoints.Esotropia patients have similar rates and proportions of CNVs compared with controls but greater total length and average size of both deletions and duplications. Three recurrent rare duplications significantly (P = 1 × 10-6) increase the risk of esotropia: chromosome 2p11.2 (hg19, 2:87428677-87965359), spanning one long noncoding RNA (lncRNA) and two microRNAs (OR 14.16; 95% confidence interval [CI] 5.4-38.1); chromosome 4p15.2 (hg19, 4:25554332-25577184), spanning one lncRNA (OR 11.1; 95% CI 4.6-25.2); chromosome 10q11.22 (hg19, 10:47049547-47703870) spanning seven protein-coding genes, one lncRNA, and four pseudogenes (OR 8.96; 95% CI 5.4-14.9). Overall, 114 cases (7%) and only 28 controls (0.7%) had one of the three rare duplications. No case nor control had more than one of these three duplications.Rare CNVs are a source of genetic variation that contribute to the genetic risk for comitant esotropia, which is likely polygenic. Future research into the functional consequences of these recurrent duplications may shed light on the pathophysiology of esotropia." @default.
• W3048883311 created "2020-08-18" @default.
• W3048883311 creator A5000503683 @default.
• W3048883311 creator A5010042074 @default.
• W3048883311 creator A5023507812 @default.
• W3048883311 creator A5026161368 @default.
• W3048883311 creator A5027861528 @default.
• W3048883311 creator A5032997650 @default.
• W3048883311 creator A5038628173 @default.
• W3048883311 creator A5039907107 @default.
• W3048883311 creator A5040787801 @default.
• W3048883311 creator A5044188766 @default.
• W3048883311 creator A5045241030 @default.
• W3048883311 creator A5050456600 @default.
• W3048883311 creator A5053014488 @default.
• W3048883311 creator A5054203955 @default.
• W3048883311 creator A5061112728 @default.
• W3048883311 creator A5065148333 @default.
• W3048883311 creator A5066526406 @default.
• W3048883311 creator A5068743109 @default.
• W3048883311 creator A5070016464 @default.
• W3048883311 creator A5073494216 @default.
• W3048883311 creator A5083857271 @default.
• W3048883311 date "2020-08-11" @default.
• W3048883311 modified "2023-09-27" @default.
• W3048883311 title "Recurrent Rare Copy Number Variants Increase Risk for Esotropia" @default.
• W3048883311 cites W1488903292 @default.
• W3048883311 cites W1566841623 @default.
• W3048883311 cites W16160480 @default.
• W3048883311 cites W1965031214 @default.
• W3048883311 cites W1966177460 @default.
• W3048883311 cites W1967477255 @default.
• W3048883311 cites W1967782684 @default.
• W3048883311 cites W1968075486 @default.
• W3048883311 cites W1971321176 @default.
• W3048883311 cites W1972345840 @default.
• W3048883311 cites W1976905805 @default.
• W3048883311 cites W1994491922 @default.
• W3048883311 cites W1994944331 @default.
• W3048883311 cites W2000100376 @default.
• W3048883311 cites W2013286117 @default.
• W3048883311 cites W2019215536 @default.
• W3048883311 cites W2042004678 @default.
• W3048883311 cites W2058625191 @default.
• W3048883311 cites W2058685320 @default.
• W3048883311 cites W2065141457 @default.
• W3048883311 cites W2069928037 @default.
• W3048883311 cites W2083681961 @default.
• W3048883311 cites W2085487484 @default.
• W3048883311 cites W2087723810 @default.
• W3048883311 cites W2095963216 @default.
• W3048883311 cites W2105174935 @default.
• W3048883311 cites W2107708021 @default.
• W3048883311 cites W2110374888 @default.
• W3048883311 cites W2113559596 @default.
• W3048883311 cites W2115111646 @default.
• W3048883311 cites W2116216989 @default.
• W3048883311 cites W2118495428 @default.
• W3048883311 cites W2119666528 @default.
• W3048883311 cites W2121045992 @default.
• W3048883311 cites W2125704896 @default.
• W3048883311 cites W2131064794 @default.
• W3048883311 cites W2134953621 @default.
• W3048883311 cites W2136585634 @default.
• W3048883311 cites W2142452151 @default.
• W3048883311 cites W2143156387 @default.
• W3048883311 cites W2145826529 @default.
• W3048883311 cites W2146071299 @default.
• W3048883311 cites W2149681218 @default.
• W3048883311 cites W2152079029 @default.
• W3048883311 cites W2163651108 @default.
• W3048883311 cites W2166657289 @default.
• W3048883311 cites W2167385601 @default.
• W3048883311 cites W2167898988 @default.
• W3048883311 cites W2199106471 @default.
• W3048883311 cites W2541356724 @default.
• W3048883311 cites W2567715327 @default.
• W3048883311 cites W2592426261 @default.
• W3048883311 cites W2603258112 @default.
• W3048883311 cites W2608759161 @default.
• W3048883311 cites W2637381607 @default.
• W3048883311 cites W2749482559 @default.
• W3048883311 cites W2789078890 @default.
• W3048883311 cites W2800968671 @default.
• W3048883311 cites W2886421883 @default.
• W3048883311 cites W2896510555 @default.
• W3048883311 cites W2904741716 @default.
• W3048883311 cites W2944743605 @default.
• W3048883311 cites W2953845871 @default.
• W3048883311 cites W3013764089 @default.
• W3048883311 cites W4230812948 @default.
• W3048883311 cites W4230839526 @default.
• W3048883311 cites W4241939316 @default.
• W3048883311 cites W4250911757 @default.
• W3048883311 cites W4255564767 @default.
• W3048883311 doi "https://doi.org/10.1167/iovs.61.10.22" @default.
• W3048883311 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7443120" @default.
• W3048883311 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32780866" @default.

• next