kwic
further
further
right
off
ON
251
1
100
500
strict
ELIZA cgi-bash version rev. 1.91
- Medical English LInking keywords finder for the PubMed Zipped Archive (ELIZA) -
return
kwic search for further out of >500 occurrences
298283 occurrences (No.79 in the rank) during 5 years in the PubMed. [cache]
--- ABSTRACT ---
--- ABSTRACT END ---
[frequency of next (right) word to further]
298283 occurrences (No.79 in the rank) during 5 years in the PubMed. [cache]
| 251) We further show that the resulting functional defects in PHGDH cause decreased serine biosynthesis and accumulation of deoxySLs in retinal pigmented epithelial cells. |
| 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. |
[
right
kwic]
(1)83  research |
(16)4 validation |
(31)2 and |
(46)2 high-quality |
| (2)43 studies |
(17)3 confirmed |
(32)2 attention |
(47)2 inform |
| (3)22 investigation |
(18)3 demonstrate |
(33)2 characterization |
(48)2 insight |
| (4)9 analysis |
(19)3 demonstrated |
(34)2 clinical |
(49)2 reduce |
| (5)9 study |
(20)3 highlight |
(35)2 considerations |
(50)2 research, |
| (6)7 the |
(21)3 identify |
(36)2 develop |
(51)2 screening |
| (7)7 work |
(22)3 in |
(37)2 developing |
(52)2 showed |
| (8)5 development |
(23)3 investigated |
(38)2 discussion |
(53)2 structure-based |
| (9)5 evidence |
(24)3 investigations |
(39)2 divided |
(54)2 studied |
| (10)4 evaluate |
(25)3 literature |
(40)2 enhanced |
(55)2 supported |
| (11)4 evaluation |
(26)3 our |
(41)2 evaluated |
(56)2 tested |
| (12)4 exploration |
(27)3 show |
(42)2 evaluations |
(57)2 this |
| (13)4 explore |
(28)3 we |
(43)2 examined |
(58)2 understand |
| (14)4 improve |
(29)2 aid |
(44)2 explored |
(59)2 understanding |
| (15)4 investigate |
(30)2 analyses |
(45)2 extend |
add keyword
--- WordNet output for further ---