Matches in SemOpenAlex for { <https://semopenalex.org/work/W4315703318> ?p ?o ?g. }
- W4315703318 abstract "Abstract Childhood glaucoma is a group of heterogeneous genetic disorders. The purpose of this study was to explore the genetic background in the Japanese population. Genomic DNA was extracted from 31 patients with childhood glaucoma from 29 families in the Japanese population. We screened the CYP1B1 , FOXC1 and candidate genes using Sanger sequencing and whole-exome sequencing (WES). In the CYP1B1 gene, we identified nine mutations, of which four were novel. Almost all affected individuals had severe early-onset childhood glaucoma. In the FOXC1 gene, three novel mutations were identified in a heterozygous state. We next attempted to extract the candidate genes from the subjects showing negative results for two genes. The iterative filtering process by WES revealed 4 single-nucleotide variations (SNVs) in the PTPRF, SMPD4, VPS13B , and DHRS1 genes on autosomal chromosomes and 4 SNVs in the NHS, KCND1, BRWD3 , and ENOX2 genes on the X chromosome. The CYP1B1 and FOXC1 genes are major causal genes of childhood glaucoma in Japanese families (30% and 10%, respectively), and WES results reveal the heterogeneity of the genetic background. Screening the CYP1B1 and FOXC1 genes is useful to ensure the proper diagnosis and adequate treatment of childhood glaucoma." @default.
- W4315703318 created "2023-01-12" @default.
- W4315703318 creator A5002837769 @default.
- W4315703318 creator A5003185407 @default.
- W4315703318 creator A5003779897 @default.
- W4315703318 creator A5022621431 @default.
- W4315703318 creator A5031705161 @default.
- W4315703318 creator A5031788987 @default.
- W4315703318 creator A5040817459 @default.
- W4315703318 creator A5046833051 @default.
- W4315703318 creator A5051054725 @default.
- W4315703318 creator A5059801301 @default.
- W4315703318 creator A5060936385 @default.
- W4315703318 creator A5067454062 @default.
- W4315703318 creator A5072329333 @default.
- W4315703318 creator A5074289436 @default.
- W4315703318 creator A5076489788 @default.
- W4315703318 creator A5083070011 @default.
- W4315703318 date "2023-01-12" @default.
- W4315703318 modified "2023-10-14" @default.
- W4315703318 title "Exome sequencing reveals that the CYP1B1 and FOXC1 genes are mainly responsible for childhood glaucoma in Japanese patients" @default.
- W4315703318 cites W1175815497 @default.
- W4315703318 cites W1529788780 @default.
- W4315703318 cites W1820841059 @default.
- W4315703318 cites W1975957761 @default.
- W4315703318 cites W1976063837 @default.
- W4315703318 cites W1986496846 @default.
- W4315703318 cites W1992511977 @default.
- W4315703318 cites W2009479752 @default.
- W4315703318 cites W2011335970 @default.
- W4315703318 cites W2017819192 @default.
- W4315703318 cites W2023595527 @default.
- W4315703318 cites W2024234545 @default.
- W4315703318 cites W2040567714 @default.
- W4315703318 cites W2046485437 @default.
- W4315703318 cites W2046632616 @default.
- W4315703318 cites W2053387942 @default.
- W4315703318 cites W2056273383 @default.
- W4315703318 cites W2070298717 @default.
- W4315703318 cites W2078098781 @default.
- W4315703318 cites W2078477574 @default.
- W4315703318 cites W2079329077 @default.
- W4315703318 cites W2080364059 @default.
- W4315703318 cites W2102112915 @default.
- W4315703318 cites W2108608295 @default.
- W4315703318 cites W2124334570 @default.
- W4315703318 cites W2128128647 @default.
- W4315703318 cites W2147745171 @default.
- W4315703318 cites W2163129996 @default.
- W4315703318 cites W2414532145 @default.
- W4315703318 cites W2465677865 @default.
- W4315703318 cites W2609840241 @default.
- W4315703318 cites W2617544368 @default.
- W4315703318 cites W2766320271 @default.
- W4315703318 cites W2952780392 @default.
- W4315703318 cites W3000725456 @default.
- W4315703318 cites W3001856514 @default.
- W4315703318 cites W3015988719 @default.
- W4315703318 cites W3040129443 @default.
- W4315703318 cites W3156974197 @default.
- W4315703318 doi "https://doi.org/10.21203/rs.3.rs-2445970/v1" @default.
- W4315703318 hasPublicationYear "2023" @default.
- W4315703318 type Work @default.
- W4315703318 citedByCount "0" @default.
- W4315703318 crossrefType "posted-content" @default.
- W4315703318 hasAuthorship W4315703318A5002837769 @default.
- W4315703318 hasAuthorship W4315703318A5003185407 @default.
- W4315703318 hasAuthorship W4315703318A5003779897 @default.
- W4315703318 hasAuthorship W4315703318A5022621431 @default.
- W4315703318 hasAuthorship W4315703318A5031705161 @default.
- W4315703318 hasAuthorship W4315703318A5031788987 @default.
- W4315703318 hasAuthorship W4315703318A5040817459 @default.
- W4315703318 hasAuthorship W4315703318A5046833051 @default.
- W4315703318 hasAuthorship W4315703318A5051054725 @default.
- W4315703318 hasAuthorship W4315703318A5059801301 @default.
- W4315703318 hasAuthorship W4315703318A5060936385 @default.
- W4315703318 hasAuthorship W4315703318A5067454062 @default.
- W4315703318 hasAuthorship W4315703318A5072329333 @default.
- W4315703318 hasAuthorship W4315703318A5074289436 @default.
- W4315703318 hasAuthorship W4315703318A5076489788 @default.
- W4315703318 hasAuthorship W4315703318A5083070011 @default.
- W4315703318 hasBestOaLocation W43157033181 @default.
- W4315703318 hasConcept C104317684 @default.
- W4315703318 hasConcept C10590036 @default.
- W4315703318 hasConcept C134018914 @default.
- W4315703318 hasConcept C155701950 @default.
- W4315703318 hasConcept C16671776 @default.
- W4315703318 hasConcept C169760540 @default.
- W4315703318 hasConcept C2778527774 @default.
- W4315703318 hasConcept C2908647359 @default.
- W4315703318 hasConcept C501734568 @default.
- W4315703318 hasConcept C526171541 @default.
- W4315703318 hasConcept C54355233 @default.
- W4315703318 hasConcept C62231903 @default.
- W4315703318 hasConcept C69991583 @default.
- W4315703318 hasConcept C71924100 @default.
- W4315703318 hasConcept C76818968 @default.
- W4315703318 hasConcept C86803240 @default.
- W4315703318 hasConcept C99454951 @default.
- W4315703318 hasConceptScore W4315703318C104317684 @default.