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403337 occurrences (No.43 in the rank) during 5 years in the PubMed. [cache]
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403337 occurrences (No.43 in the rank) during 5 years in the PubMed. [cache]
| 178) Here we identify rare, functional variants in the gene encoding the rate-limiting serine biosynthetic enzyme, phosphoglycerate dehydrogenase (PHGDH), as the single locus accounting for a significant fraction of MacTel. |
| PMID:33758422 DOI:10.1038/s42255-021-00361-3 |
| 2021 Nature metabolism |
| * Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease. |
| - Macular telangiectasia type 2 (MacTel) is a progressive, late-onset retinal degenerative disease linked to decreased serum levels of serine that elevate circulating levels of a toxic ceramide species, deoxysphingolipids (deoxySLs); however, causal genetic variants that reduce serine levels in patients have not been identified. Here we identify rare, functional variants in the gene encoding the rate-limiting serine biosynthetic enzyme, phosphoglycerate dehydrogenase (PHGDH), as the single locus accounting for a significant fraction of MacTel. Under a dominant collapsing analysis model of a genome-wide enrichment analysis of rare variants predicted to impact protein function in 793 MacTel cases and 17,610 matched controls, the PHGDH gene achieves genome-wide significance (P = 1.2 × 10-13) with variants explaining ~3.2% of affected individuals. We further show that the resulting functional defects in PHGDH cause decreased serine biosynthesis and accumulation of deoxySLs in retinal pigmented epithelial cells. PHGDH is a significant locus for MacTel that explains the typical disease phenotype and suggests a number of potential treatment options. |
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(1)132  expression |
(14)5 drive |
(27)3 duplications |
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| (2)14 *null* | (15)5 editing |
(28)3 ontology |
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(16)5 mutations |
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| (5)10 encoding |
(18)5 regulation |
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(19)4 networks |
(32)2 analysis |
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| (7)8 in |
(20)4 regulatory |
(33)2 are |
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(21)4 silencing |
(34)2 assay, |
(47)2 pathways |
| (9)7 1 |
(22)4 transcription |
(35)2 called |
(48)2 profile |
| (10)6 interaction |
(23)4 transfer |
(36)2 cluster |
(49)2 promoter |
| (11)6 therapy |
(24)3 1/itaconate |
(37)2 delivery |
(50)2 sequencing |
| (12)6 was |
(25)3 co-expression |
(38)2 detection |
(51)2 sets |
| (13)5 Expression |
(26)3 coexpression |
(39)2 expressions |
(52)2 transcripts |
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