R
Rachel H. Giles
Researcher at Utrecht University
Publications - 164
Citations - 13542
Rachel H. Giles is an academic researcher from Utrecht University. The author has contributed to research in topics: Cilium & Cancer. The author has an hindex of 51, co-authored 146 publications receiving 11266 citations. Previous affiliations of Rachel H. Giles include Leiden University & Leiden University Medical Center.
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Journal ArticleDOI
Caught up in a Wnt storm: Wnt signaling in cancer.
TL;DR: This review considers the spectra of tumors arising from active Wnt signaling and attempts to place perspective on recent data that begin to elucidate the mechanisms prompting uncontrolled cell growth following induction of Wnt signalling.
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Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP
Fred Petrif,Rachel H. Giles,Hans G. Dauwerse,Jasper J. Saris,Raoul C.M. Hennekam,Mitsuo Masuno,Niels Tommerup,Gert-Jan B. van Ommen,Richard H. Goodman,Dorien J.M. Peters,Martijn H. Breuning +10 more
TL;DR: It is proposed that the loss of one functional copy of the CBP gene underlies the developmental abnormalities in RTS and possibly the propensity for malignancy.
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European Association of Urology Guidelines on Renal Cell Carcinoma: The 2019 Update.
Börje Ljungberg,Laurance Albiges,Yasmin Abu-Ghanem,Karim Bensalah,Saeed Dabestani,Sergio Fernández-Pello,Rachel H. Giles,Fabian Hofmann,Milan Hora,Markus A. Kuczyk,Teele Kuusk,Thomas B. Lam,Lorenzo Marconi,Axel S. Merseburger,Thomas Powles,Michael Staehler,Rana Tahbaz,Alessandro Volpe,Axel Bex +18 more
TL;DR: These guidelines provide the most reliable contemporary evidence base for the management of RCC in 2019 and are thoroughly evaluated to establish international standards for the care of kidney cancer patients.
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Mutations in the APC tumour suppressor gene cause chromosomal instability
Riccardo Fodde,Jeroen Kuipers,Jeroen Kuipers,Carla Rosenberg,Ron Smits,Menno F. Kielman,Claudia Gaspar,Johan H. van Es,Cor Breukel,Joop Wiegant,Rachel H. Giles,Hans Clevers +11 more
TL;DR: It is concluded that loss of APC sequences that lie C-terminal to the β-catenin regulatory domain contributes to chromosomal instability in colorectal cancer.
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Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways
Liyun Sang,Julie J. Miller,Kevin C. Corbit,Rachel H. Giles,Matthew J. Brauer,Edgar A. Otto,Lisa M. Baye,Xiaohui Wen,Suzie J. Scales,Mandy Kwong,Erik Huntzicker,Mindan K. Sfakianos,Wendy Sandoval,J. Fernando Bazan,Priya Kulkarni,Francesc R. Garcia-Gonzalo,Allen D. Seol,John F. O'Toole,Susanne Held,Heiko Reutter,William S. Lane,Muhammad Rafiq,Abdul Noor,Muhammad Ansar,Akella Radha Rama Devi,Val C. Sheffield,Val C. Sheffield,Diane C. Slusarski,John B. Vincent,Dan Doherty,Friedhelm Hildebrandt,Friedhelm Hildebrandt,Jeremy F. Reiter,Peter K. Jackson +33 more
TL;DR: This study further illustrates the power of linking proteomic networks and human genetics to uncover critical disease pathways and identified ATXN10 and TCTN2 as new NPHP-JBTS genes, and the Tctn2 mouse knockout shows neural tube and Hedgehog signaling defects.