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Items: 1 to 50 of 98

1.

A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling.

Frikstad KM, Molinari E, Thoresen M, Ramsbottom SA, Hughes F, Letteboer SJF, Gilani S, Schink KO, Stokke T, Geimer S, Pedersen LB, Giles RH, Akhmanova A, Roepman R, Sayer JA, Patzke S.

Cell Rep. 2019 Aug 13;28(7):1907-1922.e6. doi: 10.1016/j.celrep.2019.07.025.

2.

Comprehensive characterization of a Canadian cohort of von Hippel-Lindau disease patients.

Salama Y, Albanyan S, Szybowska M, Bullivant G, Gallinger B, Giles RH, Asa S, Badduke C, Chiorean A, Druker H, Ezzat S, Hannah-Shmouni F, Hernandez KG, Inglese C, Jani P, Kaur Y, Krema H, Krimus L, Laperriere N, Lichner Z, Mete O, Sit M, Zadeh G, Jewett MAS, Malkin D, Stockley T, Wasserman JD, Xu W, Schachter NF, Kim RH.

Clin Genet. 2019 Aug 1. doi: 10.1111/cge.13613. [Epub ahead of print]

PMID:
31368132
3.

Management of Sporadic Renal Angiomyolipomas: A Systematic Review of Available Evidence to Guide Recommendations from the European Association of Urology Renal Cell Carcinoma Guidelines Panel.

Fernández-Pello S, Hora M, Kuusk T, Tahbaz R, Dabestani S, Abu-Ghanem Y, Albiges L, Giles RH, Hofmann F, Kuczyk MA, Lam TB, Marconi L, Merseburger AS, Powles T, Staehler M, Volpe A, Ljungberg B, Bex A, Bensalah K.

Eur Urol Oncol. 2019 Jun 3. pii: S2588-9311(19)30054-9. doi: 10.1016/j.euo.2019.04.005. [Epub ahead of print] Review.

PMID:
31171501
4.

Updated European Association of Urology Guidelines on Renal Cell Carcinoma: Immune Checkpoint Inhibition Is the New Backbone in First-line Treatment of Metastatic Clear-cell Renal Cell Carcinoma.

Albiges L, Powles T, Staehler M, Bensalah K, Giles RH, Hora M, Kuczyk MA, Lam TB, Ljungberg B, Marconi L, Merseburger AS, Volpe A, Abu-Ghanem Y, Dabestani S, Fernández-Pello S, Hofmann F, Kuusk T, Tahbaz R, Bex A.

Eur Urol. 2019 Aug;76(2):151-156. doi: 10.1016/j.eururo.2019.05.022.

PMID:
31151678
5.

CiliaCarta: An integrated and validated compendium of ciliary genes.

van Dam TJP, Kennedy J, van der Lee R, de Vrieze E, Wunderlich KA, Rix S, Dougherty GW, Lambacher NJ, Li C, Jensen VL, Leroux MR, Hjeij R, Horn N, Texier Y, Wissinger Y, van Reeuwijk J, Wheway G, Knapp B, Scheel JF, Franco B, Mans DA, van Wijk E, Képès F, Slaats GG, Toedt G, Kremer H, Omran H, Szymanska K, Koutroumpas K, Ueffing M, Nguyen TT, Letteboer SJF, Oud MM, van Beersum SEC, Schmidts M, Beales PL, Lu Q, Giles RH, Szklarczyk R, Russell RB, Gibson TJ, Johnson CA, Blacque OE, Wolfrum U, Boldt K, Roepman R, Hernandez-Hernandez V, Huynen MA.

PLoS One. 2019 May 16;14(5):e0216705. doi: 10.1371/journal.pone.0216705. eCollection 2019.

6.

European Association of Urology Guidelines on Renal Cell Carcinoma: The 2019 Update.

Ljungberg B, Albiges L, Abu-Ghanem Y, Bensalah K, Dabestani S, Fernández-Pello S, Giles RH, Hofmann F, Hora M, Kuczyk MA, Kuusk T, Lam TB, Marconi L, Merseburger AS, Powles T, Staehler M, Tahbaz R, Volpe A, Bex A.

Eur Urol. 2019 May;75(5):799-810. doi: 10.1016/j.eururo.2019.02.011. Epub 2019 Feb 23.

PMID:
30803729
7.

Imaging in Suspected Renal-Cell Carcinoma: Systematic Review.

Vogel C, Ziegelmüller B, Ljungberg B, Bensalah K, Bex A, Canfield S, Giles RH, Hora M, Kuczyk MA, Merseburger AS, Powles T, Albiges L, Stewart F, Volpe A, Graser A, Schlemmer M, Yuan C, Lam T, Staehler M.

Clin Genitourin Cancer. 2019 Apr;17(2):e345-e355. doi: 10.1016/j.clgc.2018.07.024. Epub 2018 Aug 11.

PMID:
30528378
8.

Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.

Reilly ML, Stokman MF, Magry V, Jeanpierre C, Alves M, Paydar M, Hellinga J, Delous M, Pouly D, Failler M, Martinovic J, Loeuillet L, Leroy B, Tantau J, Roume J, Gregory-Evans CY, Shan X, Filges I, Allingham JS, Kwok BH, Saunier S, Giles RH, Benmerah A.

Hum Mol Genet. 2019 Mar 1;28(5):778-795. doi: 10.1093/hmg/ddy381.

PMID:
30388224
9.

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

Giles RH, Gläsker S.

Lancet Oncol. 2018 Oct;19(10):1267-1269. doi: 10.1016/S1470-2045(18)30533-3. Epub 2018 Sep 17. No abstract available.

PMID:
30236512
10.

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 Use Does not Change Evidence-based Guideline Recommendations.

Bex A, Albiges L, Staehler M, Bensalah K, Giles RH, Dabestani S, Hofmann F, Hora M, Kuczyk MA, Lam TB, Marconi L, Merseburger AS, Fernández-Pello S, Tahbaz R, Abu-Ghanem Y, Volpe A, Ljungberg B, Escudier B, Powles T.

Eur Urol. 2018 Dec;74(6):849-851. doi: 10.1016/j.eururo.2018.08.029. Epub 2018 Sep 7. No abstract available.

PMID:
30201510
11.

Von Hippel-Lindau Syndrome.

van Leeuwaarde RS, Ahmad S, Links TP, Giles RH.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2000 May 17 [updated 2018 Sep 6].

12.

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

Bex A, Albiges L, Ljungberg B, Bensalah K, Dabestani S, Giles RH, Hofmann F, Hora M, Kuczyk MA, Lam TB, Marconi L, Merseburger AS, Fernández-Pello S, Tahbaz R, Abu-Ghanem Y, Staehler M, Volpe A, Powles T.

Eur Urol. 2018 Dec;74(6):805-809. doi: 10.1016/j.eururo.2018.08.008. Epub 2018 Aug 31.

PMID:
30177291
13.

Changes in the urinary extracellular vesicle proteome are associated with nephronophthisis-related ciliopathies.

Stokman MF, Bijnsdorp IV, Schelfhorst T, Pham TV, Piersma SR, Knol JC, Giles RH, Bongers EMHF, Knoers NVAM, Lilien MR, Jiménez CR, Renkema KY.

J Proteomics. 2019 Feb 10;192:27-36. doi: 10.1016/j.jprot.2018.07.008. Epub 2018 Jul 30.

14.

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

Albanyan S, Giles RH, Gimeno EM, Silver J, Murphy J, Faghfoury H, Morel CF, Machado J, Kim RH.

Eur J Med Genet. 2019 Mar;62(3):177-181. doi: 10.1016/j.ejmg.2018.07.006. Epub 2018 Jul 10.

PMID:
30006056
15.

Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.

Stokman MF, van der Zwaag B, van de Kar NCAJ, van Haelst MM, van Eerde AM, van der Heijden JW, Kroes HY, Ippel E, Schulp AJA, van Gassen KL, van Rooij IALM, Giles RH, Beales PL, Roepman R, Arts HH, Bongers EMHF, Renkema KY, Knoers NVAM, van Reeuwijk J, Lilien MR.

Pediatr Nephrol. 2018 Oct;33(10):1701-1712. doi: 10.1007/s00467-018-3958-7. Epub 2018 Jul 5.

16.

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

Dafinger C, Rinschen MM, Borgal L, Ehrenberg C, Basten SG, Franke M, Höhne M, Rauh M, Göbel H, Bloch W, Wunderlich FT, Peters DJM, Tasche D, Mishra T, Habbig S, Dötsch J, Müller RU, Brüning JC, Persigehl T, Giles RH, Benzing T, Schermer B, Liebau MC.

Exp Mol Med. 2018 Jun 28;50(6):75. doi: 10.1038/s12276-018-0108-z.

17.

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

Grünwald V, Eberhardt B, Bex A, Flörcken A, Gauler T, Derlin T, Panzica M, Dürr HR, Grötz KA, Giles RH, von Falck C, Graser A, Muacevic A, Staehler M.

Nat Rev Urol. 2018 Aug;15(8):511-521. doi: 10.1038/s41585-018-0034-9. Review.

PMID:
29904105
18.

The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis.

Renkema KY, Giles RH, Lilien MR, Beales PL, Roepman R, Oud MM, Arts HH, Knoers NVAM.

Front Pediatr. 2018 May 7;6:131. doi: 10.3389/fped.2018.00131. eCollection 2018.

19.

Adjuvant Vascular Endothelial Growth Factor-targeted Therapy in Renal Cell Carcinoma: A Systematic Review and Pooled Analysis.

Sun M, Marconi L, Eisen T, Escudier B, Giles RH, Haas NB, Harshman LC, Quinn DI, Larkin J, Pal SK, Powles T, Ryan CW, Sternberg CN, Uzzo R, Choueiri TK, Bex A.

Eur Urol. 2018 Nov;74(5):611-620. doi: 10.1016/j.eururo.2018.05.002. Epub 2018 May 18.

PMID:
29784193
20.

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

van Rooijen E, van de Hoek G, Logister I, Ajzenberg H, Knoers NVAM, van Eeden F, Voest EE, Schulte-Merker S, Giles RH.

Nephron. 2018;138(4):310-323. doi: 10.1159/000484096. Epub 2018 Jan 17.

21.

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

Festa BP, Chen Z, Berquez M, Debaix H, Tokonami N, Prange JA, Hoek GV, Alessio C, Raimondi A, Nevo N, Giles RH, Devuyst O, Luciani A.

Nat Commun. 2018 Jan 11;9(1):161. doi: 10.1038/s41467-017-02536-7.

22.

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

Hartill VL, van de Hoek G, Patel MP, Little R, Watson CM, Berry IR, Shoemark A, Abdelmottaleb D, Parkes E, Bacchelli C, Szymanska K, Knoers NV, Scambler PJ, Ueffing M, Boldt K, Yates R, Winyard PJ, Adler B, Moya E, Hattingh L, Shenoy A, Hogg C, Sheridan E, Roepman R, Norris D, Mitchison HM, Giles RH, Johnson CA.

Hum Mol Genet. 2018 Feb 1;27(3):529-545. doi: 10.1093/hmg/ddx422.

23.

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

Powles T, Albiges L, Staehler M, Bensalah K, Dabestani S, Giles RH, Hofmann F, Hora M, Kuczyk MA, Lam TB, Marconi L, Merseburger AS, Fernández-Pello S, Tahbaz R, Volpe A, Ljungberg B, Bex A.

Eur Urol. 2017 Dec 7. pii: S0302-2838(17)31001-1. doi: 10.1016/j.eururo.2017.11.016. [Epub ahead of print]

PMID:
29223605
24.

TCF21 hypermethylation regulates renal tumor cell clonogenic proliferation and migration.

Gooskens SL, Klasson TD, Gremmels H, Logister I, Pieters R, Perlman EJ, Giles RH, van den Heuvel-Eibrink MM.

Mol Oncol. 2018 Feb;12(2):166-179. doi: 10.1002/1878-0261.12149. Epub 2017 Dec 14.

25.

Recommendations for the Management of Rare Kidney Cancers.

Giles RH, Choueiri TK, Heng DY, Albiges L, Hsieh JJ, Linehan WM, Pal S, Maskens D, Paseman B, Jonasch E, Malouf G, Molina AM, Pickering L, Shuch B, Srinivas S, Srinivasan R, Tannir NM, Bex A.

Eur Urol. 2017 Dec;72(6):974-983. doi: 10.1016/j.eururo.2017.06.040. Epub 2017 Jul 16. Review.

PMID:
28720391
26.

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

Iaconis D, Monti M, Renda M, van Koppen A, Tammaro R, Chiaravalli M, Cozzolino F, Pignata P, Crina C, Pucci P, Boletta A, Belcastro V, Giles RH, Surace EM, Gallo S, Pende M, Franco B.

Sci Rep. 2017 Apr 27;7(1):1224. doi: 10.1038/s41598-017-01156-x.

27.

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

Bruel AL, Franco B, Duffourd Y, Thevenon J, Jego L, Lopez E, Deleuze JF, Doummar D, Giles RH, Johnson CA, Huynen MA, Chevrier V, Burglen L, Morleo M, Desguerres I, Pierquin G, Doray B, Gilbert-Dussardier B, Reversade B, Steichen-Gersdorf E, Baumann C, Panigrahi I, Fargeot-Espaliat A, Dieux A, David A, Goldenberg A, Bongers E, Gaillard D, Argente J, Aral B, Gigot N, St-Onge J, Birnbaum D, Phadke SR, Cormier-Daire V, Eguether T, Pazour GJ, Herranz-Pérez V, Goldstein JS, Pasquier L, Loget P, Saunier S, Mégarbané A, Rosnet O, Leroux MR, Wallingford JB, Blacque OE, Nachury MV, Attie-Bitach T, Rivière JB, Faivre L, Thauvin-Robinet C.

J Med Genet. 2017 Jun;54(6):371-380. doi: 10.1136/jmedgenet-2016-104436. Epub 2017 Mar 13. Review.

28.

Changing Current Practice in Urology: Improving Guideline Development and Implementation Through Stakeholder Engagement.

MacLennan SJ, MacLennan S, Bex A, Catto JWF, De Santis M, Glaser AW, Ljungberg B, N'Dow J, Plass K, Trapero-Bertran M, Van Poppel H, Wright P, Giles RH.

Eur Urol. 2017 Aug;72(2):161-163. doi: 10.1016/j.eururo.2017.02.008. Epub 2017 Feb 22.

PMID:
28237788
29.

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

Litchfield K, Levy M, Dudakia D, Proszek P, Shipley C, Basten S, Rapley E, Bishop DT, Reid A, Huddart R, Broderick P, Castro DG, O'Connor S, Giles RH, Houlston RS, Turnbull C.

Nat Commun. 2016 Dec 20;7:13840. doi: 10.1038/ncomms13840.

30.

Updated European Association of Urology Guidelines Regarding Adjuvant Therapy for Renal Cell Carcinoma.

Bex A, Albiges L, Ljungberg B, Bensalah K, Dabestani S, Giles RH, Hofmann F, Hora M, Kuczyk MA, Lam TB, Marconi L, Merseburger AS, Staehler M, Volpe A, Powles T.

Eur Urol. 2017 May;71(5):719-722. doi: 10.1016/j.eururo.2016.11.034. Epub 2016 Dec 13.

PMID:
27986369
31.

A Systematic Review and Meta-analysis Comparing the Effectiveness and Adverse Effects of Different Systemic Treatments for Non-clear Cell Renal Cell Carcinoma.

Fernández-Pello S, Hofmann F, Tahbaz R, Marconi L, Lam TB, Albiges L, Bensalah K, Canfield SE, Dabestani S, Giles RH, Hora M, Kuczyk MA, Merseburger AS, Powles T, Staehler M, Volpe A, Ljungberg B, Bex A.

Eur Urol. 2017 Mar;71(3):426-436. doi: 10.1016/j.eururo.2016.11.020. Epub 2016 Dec 8. Review.

PMID:
27939075
32.

Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome).

Monroe GR, Kappen IF, Stokman MF, Terhal PA, van den Boogaard MH, Savelberg SM, van der Veken LT, van Es RJ, Lens SM, Hengeveld RC, Creton MA, Janssen NG, Mink van der Molen AB, Ebbeling MB, Giles RH, Knoers NV, van Haaften G.

Eur J Hum Genet. 2016 Dec;24(12):1752-1760. doi: 10.1038/ejhg.2016.103. Epub 2016 Aug 17.

33.

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

Stokman MF, Renkema KY, Giles RH, Schaefer F, Knoers NV, van Eerde AM.

Nat Rev Nephrol. 2016 Aug;12(8):472-83. doi: 10.1038/nrneph.2016.87. Epub 2016 Jul 4. Review.

PMID:
27374918
34.

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

Powles T, Staehler M, Ljungberg B, Bensalah K, Canfield SE, Dabestani S, Giles RH, Hofmann F, Hora M, Kuczyk MA, Lam T, Marconi L, Merseburger AS, Volpe A, Bex A.

Eur Urol. 2016 Nov;70(5):705-706. doi: 10.1016/j.eururo.2016.06.009. Epub 2016 Jun 24.

PMID:
27349614
35.

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

Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y, van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ, Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ, Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B, Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM, Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E, Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ, Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U, Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB, Roepman R; UK10K Rare Diseases Group.

Nat Commun. 2016 May 13;7:11491. doi: 10.1038/ncomms11491.

36.

Von Hippel-Lindau Disease: Genetics and Role of Genetic Counseling in a Multiple Neoplasia Syndrome.

Nielsen SM, Rhodes L, Blanco I, Chung WK, Eng C, Maher ER, Richard S, Giles RH.

J Clin Oncol. 2016 Jun 20;34(18):2172-81. doi: 10.1200/JCO.2015.65.6140. Epub 2016 Apr 25. Review. Erratum in: J Clin Oncol. 2016 Oct 10;34(29):3588.

PMID:
27114602
37.

De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia.

Stokman MF, Oud MM, van Binsbergen E, Slaats GG, Nicolaou N, Renkema KY, Nijman IJ, Roepman R, Giles RH, Arts HH, Knoers NV, van Haelst MM.

Am J Med Genet A. 2016 Jun;170(6):1566-9. doi: 10.1002/ajmg.a.37598. Epub 2016 Feb 19.

PMID:
26892345
38.

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

Lambacher NJ, Bruel AL, van Dam TJ, Szymańska K, Slaats GG, Kuhns S, McManus GJ, Kennedy JE, Gaff K, Wu KM, van der Lee R, Burglen L, Doummar D, Rivière JB, Faivre L, Attié-Bitach T, Saunier S, Curd A, Peckham M, Giles RH, Johnson CA, Huynen MA, Thauvin-Robinet C, Blacque OE.

Nat Cell Biol. 2016 Jan;18(1):122-31. doi: 10.1038/ncb3273. Epub 2015 Nov 23.

39.

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

Slaats GG, Wheway G, Foletto V, Szymanska K, van Balkom BW, Logister I, Den Ouden K, Keijzer-Veen MG, Lilien MR, Knoers NV, Johnson CA, Giles RH.

J Cell Sci. 2015 Dec 15;128(24):4550-9. doi: 10.1242/jcs.176065. Epub 2015 Nov 6.

40.

MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

Slaats GG, Isabella CR, Kroes HY, Dempsey JC, Gremmels H, Monroe GR, Phelps IG, Duran KJ, Adkins J, Kumar SA, Knutzen DM, Knoers NV, Mendelsohn NJ, Neubauer D, Mastroyianni SD, Vogt J, Worgan L, Karp N, Bowdin S, Glass IA, Parisi MA, Otto EA, Johnson CA, Hildebrandt F, van Haaften G, Giles RH, Doherty D.

J Med Genet. 2016 Jan;53(1):62-72. doi: 10.1136/jmedgenet-2015-103250. Epub 2015 Oct 21.

41.

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

Nicolaou N, Pulit SL, Nijman IJ, Monroe GR, Feitz WF, Schreuder MF, van Eerde AM, de Jong TP, Giltay JC, van der Zwaag B, Havenith MR, Zwakenberg S, van der Zanden LF, Poelmans G, Cornelissen EA, Lilien MR, Franke B, Roeleveld N, van Rooij IA, Cuppen E, Bongers EM, Giles RH, Knoers NV, Renkema KY.

Kidney Int. 2016 Feb;89(2):476-86.

PMID:
26489027
42.

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

Slaats GG, Saldivar JC, Bacal J, Zeman MK, Kile AC, Hynes AM, Srivastava S, Nazmutdinova J, den Ouden K, Zagers MS, Foletto V, Verhaar MC, Miles C, Sayer JA, Cimprich KA, Giles RH.

J Clin Invest. 2015 Sep;125(9):3657-66. doi: 10.1172/JCI80657. Epub 2015 Aug 24.

43.

Genetic, environmental, and epigenetic factors involved in CAKUT.

Nicolaou N, Renkema KY, Bongers EM, Giles RH, Knoers NV.

Nat Rev Nephrol. 2015 Dec;11(12):720-31. doi: 10.1038/nrneph.2015.140. Epub 2015 Aug 18. Review.

PMID:
26281895
44.

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.

Bartels M, van der Zalm MM, van Oirschot BA, Lee FS, Giles RH, Kruip MJ, Gitz-Francois JJ, Van Solinge WW, Bierings M, van Wijk R.

Hum Mutat. 2015 Nov;36(11):1039-42. doi: 10.1002/humu.22846. Epub 2015 Aug 17.

PMID:
26224408
45.

Nephronophthisis: should we target cysts or fibrosis?

Slaats GG, Lilien MR, Giles RH.

Pediatr Nephrol. 2016 Apr;31(4):545-54. doi: 10.1007/s00467-015-3162-y. Epub 2015 Jul 29. Review.

PMID:
26219413
46.

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

Oosterhuis NR, Frenay AR, Wesseling S, Snijder PM, Slaats GG, Yazdani S, Fernandez BO, Feelisch M, Giles RH, Verhaar MC, Joles JA, van Goor H.

Nitric Oxide. 2015 Sep 15;49:56-66. doi: 10.1016/j.niox.2015.07.001. Epub 2015 Jul 17.

PMID:
26192363
47.

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics, Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA.

Nat Cell Biol. 2015 Aug;17(8):1074-1087. doi: 10.1038/ncb3201. Epub 2015 Jul 13.

48.

Non-invasive sources of cells with primary cilia from pediatric and adult patients.

Ajzenberg H, Slaats GG, Stokman MF, Arts HH, Logister I, Kroes HY, Renkema KY, van Haelst MM, Terhal PA, van Rooij IA, Keijzer-Veen MG, Knoers NV, Lilien MR, Jewett MA, Giles RH.

Cilia. 2015 Jun 1;4:8. doi: 10.1186/s13630-015-0017-x. eCollection 2015.

49.

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

Benmerah A, Durand B, Giles RH, Harris T, Kohl L, Laclef C, Meilhac SM, Mitchison HM, Pedersen LB, Roepman R, Swoboda P, Ueffing M, Bastin P.

Cilia. 2015 Mar 31;4:5. doi: 10.1186/s13630-015-0014-0. eCollection 2015.

50.

Are renal ciliopathies (replication) stressed out?

Slaats GG, Giles RH.

Trends Cell Biol. 2015 Jun;25(6):317-9. doi: 10.1016/j.tcb.2015.03.005. Epub 2015 Apr 27. Review.

PMID:
25937400

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