Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Item
http://www.wikidata.org/entity/Q40094779
Predicted protein interactions of IFITMs which inhibit Zika virus infectionStructure and mechanism of a bacterial t6A biosynthesis system.Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model.Structure-function analysis of Sua5 protein reveals novel functional motifs required for the biosynthesis of the universal t6A tRNA modification.Monogenic Causes of Proteinuria in Children.The structure of the TsaB/TsaD/TsaE complex reveals an unexpected mechanism for the bacterial t6A tRNA-modification.CO2-sensitive tRNA modification associated with human mitochondrial disease.Zebrafish Models of Rare Hereditary Pediatric Diseases.Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings.Counter-Balance Between Gli3 and miR-7 Is Required for Proper Morphogenesis and Size Control of the Mouse Brain
P2860

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Item
http://www.wikidata.org/entity/Q40094779
description
2017 nî lūn-bûn
@nan
2017年の論文
@ja
2017年論文
@yue
2017年論文
@zh-hant
2017年論文
@zh-hk
2017年論文
@zh-mo
2017年論文
@zh-tw
2017年论文
@wuu
2017年论文
@zh
2017年论文
@zh-cn
name
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
@en
type
label
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
@en
prefLabel
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
@en
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P6179
P698
P921
P932
P356
P1433
P1476
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
@en
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P6179
P698
P921
P932