Researchers – Publications – Kidney and urinary tract anomalies

SLC20A1 Is Involved in Urinary Tract and Urorectal Development.

 

Rieke JM, Zhang R, Braun D, Yilmaz Ö, Japp AS, Lopes FM, Pleschka M, Hilger AC, Schneider S, Newman WG, Beaman GM, Nordenskjöld A, Ebert AK, Promm M, Rösch WH, Stein R, Hirsch K, Schäfer FM, Schmiedeke E, Boemers TM, Lacher M, Kluth D, Gosemann JH, Anderberg M, Barker G, Holmdahl G, Läckgren G, Keene D, Cervellione RM, Giorgio E, Di Grazia M, Feitz WFJ, Marcelis CLM, Van Rooij IALM, Bökenkamp A, Beckers GMA, Keegan CE, Sharma A, Dakal TC, Wittler L, Grote P, Zwink N, Jenetzky E, Brusco A, Thiele H, Ludwig M, Schweizer U, Woolf AS, Odermatt B, Reutter H. SLC20A1 Is Involved in Urinary Tract and Urorectal Development. Front Cell Dev Biol 2020;8:567.

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The ANTENATAL multicentre study to predict postnatal renal outcome in foetuses with posterior urethral valves: objectives and design

Buffin-Meyer B, Klein J, van der Zanden LFM, Levtchenko E, Moulos, P, Lounis N, Conte-Auriol F, Hindryckx A, Wühl E, Persico N, Oepkes D, Schreuder MF, Tkaczyk M, Ariceta G, Fossum M, Parvex P, Feitz W, Olsen H, Montini G, Decramer S, Schanstra JP, ANTENATAL consortium. Clin Kidney J 2019;sfz107:1-9.

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Rare Variants in BNC2 are implicated in autosomal-dominant congenital lower urinary-tract obstruction.

 

Kolvenbach CM, Dworschak GC, Frese S, Japp AS, Schuster P, Wenzlitschke N, Yilmaz O, Lopes FM, Pryalukhin A, Schierbaum L, van der Zanden LFM, Kause F, Schneider R, Taranta-Janusz K, Szczepanska M, Pawlaczyk K, Newman WG, Beaman GM, Stuart HM, Cervellione RM, Feitz WFJ, van Rooij I, Schreuder MF, Steffens M, Weber S, Merz WM, Feldkotter M, Hoppe B, Thiele H, Altmuller J, Berg C, Kristiansen G, Ludwig M, Reutter H, Woolf AS, Hildebrandt F, Grote P, Zaniew M, Odermatt B, Hilger AC. Am J Hum Genet 2019 2;104:994-1006.

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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;192:27-36.

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Sox11 gene disruption causes congenital anomalies of the kidney and urinary tract (CAKUT).

Neirijnck Y, Reginensi A, Renkema KY, Massa F, Kozlov VM, Dhib H, Bongers EM, Feitz WF, van Eerde AM, Lefebvre V, Knoers NV, Tabatabaei M, McNeill H, Schaefer S, Wegner M, Sock E, Schedl A. Kidney Int 2018;93:1142-1153.

 

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, Schulp AJ, van Gassen KL, Giles RH, van Rooij IALM, Beales PL, Roepman R, Arts HH, Bongers EMHF, Renkema KY, Knoers NVAM, van Reeuwijk J, Lilien MR. Pediatr Nephrol 2018;33:1701-12.

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Maternal risk factors involved in specific congenital anomalies of the kidney and urinary tract: a case-control study.

Groen In 't Woud S, Renkema KY, Schreuder MF, Wijers CH, van der Zanden LF, Knoers NV, Feitz WF, Bongers EM, Roeleveld N, van Rooij IA. Birth Defects Res A Clin Mol Teratol 2016;106:596-603.

 

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;89:476-486.

 

Wnt5a Deficiency Leads to Anomalies in Ureteric Tree Development, Tubular Epithelial Cell Organization and Basement Membrane Integrity Pointing to a Role in Kidney Collecting Duct Patterning.

Pietilä I, Prunskaite-Hyyryläinen R, Kaisto S, Tika E, van Eerde AM, Salo AM, Garma L, Miinalainen I, Feitz WF, Bongers EM, Juffer A, Knoers NV, Renkema KY, Myllyharju J, Vainio SJ. PLoS One 2016;21;11:e0147171.

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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;4:8.

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Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.

Hwang DY, Kohl S, Fan X, Vivante A, Chan S, Dworschak GC, Schulz J, van Eerde AM, Hilger AC, Gee HY, Pennimpede T, Herrmann BG, van de Hoek G, Renkema KY, Schell C, Huber TB, Reutter HM, Soliman NA, Stajic N, Bogdanovic R, Kehinde EO, Lifton RP, Tasic V, Lu W, Hildebrandt F. Hum Genet 2015;134:905-916.

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Diabetes-Induced Congenital Anomalies of the Kidney and Urinary Tract (CAKUT): Nurture and Nature at Work?

Renkema KY, Verhaar MC, Knoers NV. Am J Kidney Dis 2015;65:644-646.

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Whole exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association.

Saisawat P, Kohl S, Hilger A, Hwang DY, Gee HY, Dworschak G, Tasic V, Pennimpede T, Natarajan S, Sperry E, Matassa D, Bogdanovic R, de Blaauw I, Marcelis C, Wijers C, Bartels E, Schmiedeke E, Schmidt D, Maerzheuser S, Grasshoff-Der S, Holland-Cunz S, Ludwig M, Noethen M, Draaken M, Brosens E, Heij H, Tibboel D, Herrmann B, Solomon B, de Klein A, van Rooij I, Esposito F, Reutter H, Hildebrandt F. Kidney Int  2014;85:1310-7.

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Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT).

Renkema KY, Winyard PJ, Skovorodkin IN, Levtchenko E, Hindryckx A, Jeanpierre C, Weber S, Salomon R, Antignac C, Vainio S, Schedl A, Schaefer F, Knoers NV, Bongers EM; EUCAKUT consortium.  Nephrol Dial Transplant 2011;26:3843-3851.

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Association between maternal diabetes and renal malformations in the offspring: more than environmental factors.

Schreuder MF, Renkema KY. Birth Defects Res A Clin Mol Teratol 2011;91:125.

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