NCBI . NLM . NIH . GOV {
}
We began analyzing https://pmc.ncbi.nlm.nih.gov/articles/PMC5819591/, but it redirected us to https://pmc.ncbi.nlm.nih.gov/articles/PMC5819591/. The analysis below is for the second page.
Title[redir]:
Mutations in the evolutionarily highly conserved KEOPS complex genes cause nephrotic syndrome with microcephaly - PMC
Description:
Galloway-Mowat syndrome (GAMOS) is a severe autosomal-recessive disease characterized by the combination of early-onset steroid-resistant nephrotic syndrome (SRNS) and microcephaly with brain anomalies. To date, mutations of WDR73 are the only known ...
Title[redir]:
Mutations in the evolutionarily highly conserved KEOPS complex genes cause nephrotic syndrome with microcephaly - PMC
Description:
Galloway-Mowat syndrome (GAMOS) is a severe autosomal-recessive disease characterized by the combination of early-onset steroid-resistant nephrotic syndrome (SRNS) and microcephaly with brain anomalies. To date, mutations of WDR73 are the only known ...
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Keywords {🔍}
doi, osgep, tprk, mutations, human, cell, fig, scholar, pubmed, google, tprkb, keops, supplementary, pmc, knockdown, article, performed, complex, free, podocyte, lage, gamos, individuals, cells, syndrome, lines, protein, podocytes, genes, microcephaly, dna, assay, analysis, proliferation, apoptosis, alleles, data, shrna, experiments, research, actin, table, proteins, renal, days, stable, families, gene, signaling, mouse,
Topics {✒️}
generated kaplan-meyer-survival curves native pesc-trp1 plasmid steroid-resistant nephrotic syndrome array-based multiplex pcr cancer-testis antigen defines glucose-trp solid medium genome-wide screen identifies high-throughput exon sequencing evolutionary conserved ekc/keops eukaryotic ekc/keops subcomplex transient crispr/cas9 e18 galloway-mowat syndrome spectrum damaged genetic material bud32/cgi121 complexes provide universal kae1/ygjd protein human full-length cdna pmc beta search universal kae1/qri7/ygjd pentr-d-topo vector gaik-siew ch'ng 22 distinct renal-neurological disease pcr-ready genomic dna n-terminal v5 epitope human ekc/keops complex 250bp paired-end sequencing proteome-wide protein quantification krescent post-doctoral fellowship crispr/cas9 target sites early-onset nephrotic syndrome high-throughput mutation analysis sequence alignment/map format ura3-kae1 plasmid apoptotic cell death incucyte™ video-microscopy system dna damage response galloway-mowat syndrome galloway mowat syndrome unpaired student t-test tprkb full-length cdna crispr/cas9 target selection focal segmental glomerulosclerosis anova multi-test analysis transmission electron microscopy gfp-tagged wildtype tp53rk overexpression flag-tagged lage3 podocyte cell lines kae1 mutant strain mouse anti-v5 antibodies supplementary materials included actin-regulating arp2/3 complex
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