about
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signalingCandidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathyDCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signalingNephronophthisis-associated CEP164 regulates cell cycle progression, apoptosis and epithelial-to-mesenchymal transitionTMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndromeThe von Hippel-Lindau tumour suppressor interacts with microtubules through kinesin-2Human embryonic mesenchymal stem cell-derived conditioned medium rescues kidney function in rats with established chronic kidney diseaseAn organelle-specific protein landscape identifies novel diseases and molecular mechanismsMutations in LRRC50 predispose zebrafish and humans to seminomas.Late release of circulating endothelial cells and endothelial progenitor cells after chemotherapy predicts response and survival in cancer patients.The centrosomal OFD1 protein interacts with the translation machinery and regulates the synthesis of specific targets.A role for central spindle proteins in cilia structure and function.Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signalingRibosomal protein mutations induce autophagy through S6 kinase inhibition of the insulin pathway.The more we know, the more we have to discover: an exciting future for understanding cilia and ciliopathiesEx vivo exposure of bone marrow from chronic kidney disease donor rats to pravastatin limits renal damage in recipient rats with chronic kidney disease.DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndromeJoubert syndrome: genotyping a Northern European patient cohort.The SYSCILIA gold standard (SCGSv1) of known ciliary components and its applications within a systems biology consortiumMKS1 regulates ciliary INPP5E levels in Joubert syndrome.Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility.Lithium causes G2 arrest of renal principal cellsNext-generation sequencing for research and diagnostics in kidney disease.Genetic, environmental, and epigenetic factors involved in CAKUT.Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesisThe expanding phenotypic spectra of kidney diseases: insights from genetic studies.Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.European Association of Urology Guidelines for Clear Cell Renal Cancers That Are Resistant to Vascular Endothelial Growth Factor Receptor-Targeted Therapy.DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.3D spheroid model of mIMCD3 cells for studying ciliopathies and renal epithelial disorders.Updated European Association of Urology Guidelines Recommendations for the Treatment of First-line Metastatic Clear Cell Renal Cancer.DL-propargylglycine reduces blood pressure and renal injury but increases kidney weight in angiotensin-II infused rats.TCF21 hypermethylation regulates renal tumor cell clonogenic proliferation and migration.Conjunction dysfunction: CBP/p300 in human disease.Impaired autophagy bridges lysosomal storage disease and epithelial dysfunction in the kidney.KOUNCIL: Kidney-Oriented Understanding of Correcting Ciliopathies.Novel Homozygous Mutation of the Internal Translation Initiation Start Site of VHL is Exclusively Associated with Erythrocytosis: Indications for Distinct Functional Roles of von Hippel-Lindau Tumor Suppressor Isoforms.Regulation of E2F1 by the von Hippel-Lindau tumour suppressor protein predicts survival in renal cell cancer patients.Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT.Urine-derived Renal Epithelial Cells (URECs) as a source of biomaterial from ciliopathy patients for functional studies and diagnostics.
P50
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P50
description
hulumtuese
@sq
researcher
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wetenschapper
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հետազոտող
@hy
name
Rachel H Giles
@ast
Rachel H Giles
@en
Rachel H Giles
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Rachel H Giles
@nl
type
label
Rachel H Giles
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Rachel H Giles
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Rachel H Giles
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Rachel H Giles
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Giles RH
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Rachel H Giles
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Rachel H Giles
@en
Rachel H Giles
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Rachel H Giles
@nl
P106
P1153
7102265783
P21
P31
P496
0000-0001-9133-2008