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List of works by Rachel H Giles

3D spheroid model of mIMCD3 cells for studying ciliopathies and renal epithelial disorders

scientific article published on 30 October 2014

A Joint Statement from the European Association of Urology Renal Cell Cancer Guidelines Panel and the International Kidney Cancer Coalition: The Rejection of Ipilimumab and Nivolumab for Renal Cancer by the Committee for Medicinal Products for Human

scientific article published on 07 September 2018

A Zebrafish Model for VHL and Hypoxia Signaling ⬇️

scientific article published on January 1, 2011

A role for central spindle proteins in cilia structure and function

scientific article

An interdisciplinary consensus on the management of bone metastases from renal cell carcinoma

scientific article published on 01 August 2018

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

scientific journal article

BRCA1: a scaffold for p53 response?

scientific article published on 01 September 2003

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

scientific article

Characterization of VHL promoter variants in patients suspected of Von Hippel-Lindau disease

scientific article published on 10 July 2018

Characterization of the in vitro expressed autoimmune rippling muscle disease immunogenic domain of human titin encoded by TTN exons 248–249 ⬇️

scientific article published on June 29, 2011

CiliaCarta: An integrated and validated compendium of ciliary genes

scientific article published on 16 May 2019

Clear cell chondrosarcoma in Von Hippel-Lindau disease

scientific article published on 01 January 2020

Conjunction dysfunction: CBP/p300 in human disease.

scientific article published in May 1998

Control of Angiogenesis via a VHL/miR-212/132 Axis

scientific article published on 19 April 2020

DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling

scientific article

DL-propargylglycine reduces blood pressure and renal injury but increases kidney weight in angiotensin-II infused rats

scientific article published on 17 July 2015

DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome

scientific article

DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport ⬇️

scientific article published on 7 December 2017

Detection of CBP rearrangements in acute myelogenous leukemia with t(8;16) ⬇️

scientific article published on December 1, 1997

Do Human Chromosomal Bands 16p13 and 22q11-13 Share Ancestral Origins? ⬇️

scientific article (publication date: October 1998)

European Association of Urology Guidelines for Clear Cell Renal Cancers That Are Resistant to Vascular Endothelial Growth Factor Receptor-Targeted Therapy

scientific article published on 24 June 2016

Ex vivo exposure of bone marrow from chronic kidney disease donor rats to pravastatin limits renal damage in recipient rats with chronic kidney disease

scientific article published on 15 April 2015

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

scientific article

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes ⬇️

scientific article published on 13 March 2017

Functional aspects of primary cilia in signaling, cell cycle and tumorigenesis ⬇️

scientific article published on April 29, 2013

Genetic, environmental, and epigenetic factors involved in CAKUT.

scientific article published on 18 August 2015

Human embryonic mesenchymal stem cell-derived conditioned medium rescues kidney function in rats with established chronic kidney disease

scientific article (publication date: 2012)

Impaired autophagy bridges lysosomal storage disease and epithelial dysfunction in the kidney.

scientific article published on 11 January 2018

Joubert syndrome: genotyping a Northern European patient cohort

scientific article

KOUNCIL: Kidney-Oriented Understanding of Correcting Ciliopathies.

scientific article published on 13 July 2015

Late release of circulating endothelial cells and endothelial progenitor cells after chemotherapy predicts response and survival in cancer patients

scientific article

Lithium causes G2 arrest of renal principal cells

scientific article published on 09 January 2014

MKS1 regulates ciliary INPP5E levels in Joubert syndrome

scientific article published on 21 October 2015

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways

scientific article

Mutations in LRRC50 predispose zebrafish and humans to seminomas

scientific article

Nephronophthisis-associated CEP164 regulates cell cycle progression, apoptosis and epithelial-to-mesenchymal transition

scientific article (publication date: October 2014)

Next-generation sequencing for research and diagnostics in kidney disease

scientific article

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

scientific article published on 29 July 2015

Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT.

scientific article published in February 2016

Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility ⬇️

scientific article published on 20 December 2016

Reduced cilia frequencies in human renal cell carcinomas versus neighboring parenchymal tissue ⬇️

scientific article published on January 31, 2013

Regulation of E2F1 by the von Hippel-Lindau tumour suppressor protein predicts survival in renal cell cancer patients

scientific article published in September 2013

Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling

scientific article

Ribosomal protein mutations induce autophagy through S6 kinase inhibition of the insulin pathway

scientific article

Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis ⬇️

scientific article published on 6 November 2015

TCF21 hypermethylation regulates renal tumor cell clonogenic proliferation and migration

scientific article published on 27 October 2017

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome ⬇️

scientific journal article

Targeted deletion of the AAA-ATPase Ruvbl1 in mice disrupts ciliary integrity and causes renal disease and hydrocephalus.

scientific article published on 28 June 2018

Targeting the Endothelin Axis with Atrasentan, in combination with IFN-alpha, in metastatic renal cell carcinoma ⬇️

scientific article published on January 3, 2012

The SYSCILIA gold standard (SCGSv1) of known ciliary components and its applications within a systems biology consortium

scientific article published on 31 May 2013

The centrosomal OFD1 protein interacts with the translation machinery and regulates the synthesis of specific targets

scientific article

The expanding phenotypic spectra of kidney diseases: insights from genetic studies

scientific article

The first prospective trial for von Hippel-Lindau disease: pazopanib

scientific article published on 17 September 2018

The more we know, the more we have to discover: an exciting future for understanding cilia and ciliopathies

scientific article

The serine-threonine kinase LKB1 is essential for survival under energetic stress in zebrafish ⬇️

scientific article published on March 15, 2011

The von Hippel-Lindau Gene Is Required to Maintain Renal Proximal Tubule and Glomerulus Integrity in Zebrafish Larvae

scientific article published on 17 January 2018

The von Hippel-Lindau tumour suppressor interacts with microtubules through kinesin-2

scientific journal article

Unshrouding the human genome. The Human Genome Organization's Human Genome meeting. Turin, Italy, 27-30 March 1998

scientific article published on 01 June 1998

Update: CBP/p300 transgenic mice ⬇️

scientific article published on June 1, 1998

Updated European Association of Urology Guidelines Recommendations for the Treatment of First-line Metastatic Clear Cell Renal Cancer

scientific article

Updated European Association of Urology Guidelines for Cytoreductive Nephrectomy in Patients with Synchronous Metastatic Clear-cell Renal Cell Carcinoma

scientific article published on 31 August 2018

Urine-derived Renal Epithelial Cells (URECs) as a source of biomaterial from ciliopathy patients for functional studies and diagnostics.

scientific article

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