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Items: 1 to 20 of 466

1.
Risk factors of congenital anomalies of the kidney and urinary tract (CAKUT): Exposure to mobile phones during pregnancy
Kübra ÇELEĞEN, Esra ÖZGÜL, Zeynep YEŞİLDAĞ, Erdem Yusuf ÇAMIRCI, Mehmet ÇELEĞEN, Aysegül BÜKÜLMEZ
Turk J Med Sci. 2024; 54(1): 291–300. Published online 2023 Nov 18. doi: 10.55730/1300-0144.5790
PMCID:
PMC11031154
AbstractArticlePDF–479K
2.
Spatio-Temporal Expression Pattern of CAKUT Candidate Genes DLG1 and KIF12 during Human Kidney Development
Daniela Veljačić Visković, Mirela Lozić, Martina Vukoja, Violeta Šoljić, Katarina Vukojević, Merica Glavina Durdov, Natalija Filipović, Bernarda Lozić
Biomolecules. 2023 Feb; 13(2): 340. Published online 2023 Feb 9. doi: 10.3390/biom13020340
PMCID:
PMC9953652
AbstractArticlePDF–5.4M
3.
CAKUT: A Pediatric and Evolutionary Perspective on the Leading Cause of CKD in Childhood
Robert L. Chevalier
Pediatr Rep. 2023 Mar; 15(1): 143–153. Published online 2023 Feb 10. doi: 10.3390/pediatric15010012
PMCID:
PMC9944871
AbstractArticlePDF–593K
4.
PTHrP-related Hypercalcaemia in Infancy and Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)
Nardeen Kodous, Guido Filler, Ajay Parkash Sharma, Tamara Angela Van Hooren
Can J Kidney Health Dis. 2015; 2: 21. Published online 2015 May 11. doi: 10.1186/s40697-015-0052-y
PMCID:
PMC4445997
AbstractArticlePDF–1.0M
5.
CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations
Nina Mann, Franziska Kause, Erik K. Henze, Anant Gharpure, Shirlee Shril, Dervla M. Connaughton, Makiko Nakayama, Verena Klämbt, Amar J. Majmundar, Chen-Han W. Wu, Caroline M. Kolvenbach, Rufeng Dai, Jing Chen, Amelie T. van der Ven, Hadas Ityel, Madeleine J. Tooley, Jameela A. Kari, Lucy Bownass, Sherif El Desoky, Elisa De Franco, Mohamed Shalaby, Velibor Tasic, Stuart B. Bauer, Richard S. Lee, Jonathan M. Beckel, Weiqun Yu, Shrikant M. Mane, Richard P. Lifton, Heiko Reutter, Sian Ellard, Ryan E. Hibbs, Toshimitsu Kawate, Friedhelm Hildebrandt
Am J Hum Genet. 2019 Dec 5; 105(6): 1286–1293. Published online 2019 Nov 7. doi: 10.1016/j.ajhg.2019.10.004
PMCID:
PMC6904809
AbstractArticlePDF–1.0M
6.
Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT)
Maria M. Rodriguez
Fetal Pediatr Pathol. 2014 Dec; 33(5-6): 293–320. Published online 2014 Oct 14. doi: 10.3109/15513815.2014.959678
PMCID:
PMC4266037
AbstractArticlePDF–10M
7.
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)
Korbinian M. Riedhammer, Thanh-Minh T. Nguyen, Can Koşukcu, Julia Calzada-Wack, Yong Li, Nurit Assia Batzir, Seha Saygılı, Vera Wimmers, Gwang-Jin Kim, Marialena Chrysanthou, Zeineb Bakey, Efrat Sofrin-Drucker, Markus Kraiger, Adrián Sanz-Moreno, Oana V. Amarie, Birgit Rathkolb, Tanja Klein-Rodewald, Lillian Garrett, Sabine M. Hölter, Claudia Seisenberger, Stefan Haug, Pascal Schlosser, Susan Marschall, Wolfgang Wurst, Helmut Fuchs, Valerie Gailus-Durner, Matthias Wuttke, Martin Hrabe de Angelis, Jasmina Ćomić, Özlem Akgün Doğan, Yasemin Özlük, Mehmet Taşdemir, Ayşe Ağbaş, Nur Canpolat, Naama Orenstein, Salim Çalışkan, Ruthild G. Weber, Carsten Bergmann, Cecile Jeanpierre, Sophie Saunier, Tze Y. Lim, Friedhelm Hildebrandt, Bader Alhaddad, Lina Basel-Salmon, Yael Borovitz, Kaman Wu, Dinu Antony, Julia Matschkal, Christian W. Schaaf, Lutz Renders, Christoph Schmaderer, Manuel Rogg, Christoph Schell, Thomas Meitinger, Uwe Heemann, Anna Köttgen, Sebastian J. Arnold, Fatih Ozaltin, Miriam Schmidts, Julia Hoefele
Kidney Int. 2024 Apr; 105(4): 844–864. doi: 10.1016/j.kint.2023.11.032
PMCID:
PMC10957342
AbstractArticle
8.
Comparative Study Between Functional MR Urography and Renal Scintigraphy to Evaluate Drainage Curves and Split Renal Function in Children With Congenital Anomalies of Kidney and Urinary Tract (CAKUT)
Maria Beatrice Damasio, Monica Bodria, Michael Dolores, Emmanuel Durand, Fiammetta Sertorio, Michela C. Y. Wong, Jean-Nicolas Dacher, Adnan Hassani, Angela Pistorio, Girolamo Mattioli, Gianmichele Magnano, Pierre H. Vivier
Front Pediatr. 2019; 7: 527. Published online 2020 Jan 28. doi: 10.3389/fped.2019.00527
PMCID:
PMC6997479
AbstractArticlePDF–734K
9.
Whole exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association
Pawaree Saisawat, Stefan Kohl, Alina C. Hilger, Daw-Yang Hwang, Heon Yung Gee, Gabriel C. Dworschak, Velibor Tasic, Tracie Pennimpede, Sivakumar Natarajan, Ethan Sperry, Danilo S. Matassa, Nataša Stajic, Radovan Bogdanovic, Ivo de Blaauw, Carlo L.M. Marcelis, Charlotte H.W. Wijers, Enrika Bartels, Eberhard Schmiedeke, Dominik Schmidt, Stefanie Mäzheuser, Sabine Grasshoff-Derr, Stefan Holland-Cunz, Michael Ludwig, Markus M. Nöhen, Markus Draaken, Erwin Brosens, Hugo Heij, Dick Tibboel, Bernhard G. Herrmann, Benjamin D. Solomon, Annelies de Klein, Iris A.L.M. van Rooij, Franca Esposito, Heiko M. Reutter, Friedhelm Hildebrandt
Kidney Int. Author manuscript; available in PMC 2014 Dec 1.
Published in final edited form as: Kidney Int. 2014 Jun; 85(6): 1310–1317. Published online 2013 Oct 23. doi: 10.1038/ki.2013.417
PMCID:
PMC3997628
AbstractArticlePDF–2.8M
10.
PAX2 and CAKUT Phenotypes: Report on Two New Variants and a Review of Mutations from the Leiden Open Variation Database
Susanna Negrisolo, Elisa Benetti
Int J Mol Sci. 2023 Feb; 24(4): 4165. Published online 2023 Feb 19. doi: 10.3390/ijms24044165
PMCID:
PMC9962628
AbstractArticlePDF–4.8M
11.
Prenatal genetic considerations of congenital anomalies of the kidney and urinary tract (CAKUT)
Asha N. Talati, Carolyn M. Webster, Neeta L. Vora
Prenat Diagn. Author manuscript; available in PMC 2020 Jun 4.
Published in final edited form as: Prenat Diagn. 2019 Aug; 39(9): 679–692. Published online 2019 Aug 5. doi: 10.1002/pd.5536
PMCID:
PMC7272185
AbstractArticlePDF–1.2M
12.
Aberrations in FGFR1, FGFR2, and RIP5 Expression in Human Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)
Nela Kelam, Anita Racetin, Mirjana Polović, Benjamin Benzon, Marin Ogorevc, Katarina Vukojević, Merica Glavina Durdov, Ana Dunatov Huljev, Ivana Kuzmić Prusac, Davor Čarić, Fila Raguž, Sandra Kostić
Int J Mol Sci. 2022 Dec; 23(24): 15537. Published online 2022 Dec 8. doi: 10.3390/ijms232415537
PMCID:
PMC9779456
AbstractArticlePDF–4.1M
13.
To Bud or not to Bud: The RET perspective in CAKUT
T. Keefe Davis, Masato Hoshi, Sanjay Jain
Pediatr Nephrol. Author manuscript; available in PMC 2015 Apr 1.
Published in final edited form as: Pediatr Nephrol. 2014 Apr; 29(4): 597–608. doi: 10.1007/s00467-013-2606-5
PMCID:
PMC3952039
AbstractArticlePDF–1.9M
14.
Spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) including renal parenchymal malformations during fetal life and the implementation of prenatal exome sequencing (WES)
Josefine Theresia Koenigbauer, Laura Fangmann, Charlotte Reinhardt, Alexander Weichert, Wolfgang Henrich, Biskup Saskia, Heinz-Peter Gabriel
Arch Gynecol Obstet. 2024; 309(6): 2613–2622. Published online 2023 Aug 3. doi: 10.1007/s00404-023-07165-8
PMCID:
PMC11147883
AbstractArticlePDF–1.0M
15.
MicroRNAs: potential regulators of renal development genes that contribute to CAKUT
April K. Marrone, Jacqueline Ho
Pediatr Nephrol. Author manuscript; available in PMC 2015 Apr 1.
Published in final edited form as: Pediatr Nephrol. 2014 Apr; 29(4): 565–574. Published online 2013 Sep 3. doi: 10.1007/s00467-013-2599-0
PMCID:
PMC3944105
AbstractArticlePDF–683K
16.
Expression of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) Candidate Genes EDA2R, PCDH9, and TRAF7 in Normal Human Kidney Development and CAKUT
Jelena Kelam, Nela Kelam, Natalija Filipović, Luka Komić, Anita Racetin, Dora Komić, Sandra Kostić, Ivana Kuzmić Prusac, Katarina Vukojević
Genes (Basel) 2024 Jun; 15(6): 702. Published online 2024 May 28. doi: 10.3390/genes15060702
PMCID:
PMC11203332
AbstractArticlePDF–23M
17.
Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis
Pawaree Saisawat, Velibor Tasic, Virginia Vega-Warner, Elijah O. Kehinde, Barbara Günther, Rannar Airik, Jeffrey W. Innis, Bethan E. Hoskins, Julia Hoefele, Edgar A. Otto, Friedhelm Hildebrandt
Kidney Int. Author manuscript; available in PMC 2013 Nov 21.
Published in final edited form as: Kidney Int. 2012 Jan; 81(2): 10.1038/ki.2011.315. Published online 2011 Sep 7. doi: 10.1038/ki.2011.315
PMCID:
PMC3836012
AbstractArticlePDF–1.0M
18.
Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes–Brocks syndrome 2
Anne Christians, Esra Kesdiren, Imke Hennies, Alejandro Hofmann, Mark-Oliver Trowe, Frank Brand, Helge Martens, Ann Christin Gjerstad, Zoran Gucev, Matthias Zirngibl, Robert Geffers, Tomáš Seeman, Heiko Billing, Anna Bjerre, Velibor Tasic, Andreas Kispert, Benno Ure, Dieter Haffner, Jens Dingemann, Ruthild G. Weber
Hum Genet. 2023; 142(1): 73–88. Published online 2022 Sep 6. doi: 10.1007/s00439-022-02481-6
PMCID:
PMC9839807
AbstractArticlePDF–3.6M
19.
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans
Thomas M. Kitzler, Ronen Schneider, Stefan Kohl, Caroline M. Kolvenbach, Dervla M. Connaughton, Rufeng Dai, Nina Mann, Makiko Nakayama, Amar J. Majmundar, Chen-Han W. Wu, Jameela A. Kari, Sherif M. El Desoky, Prabha Senguttuvan, Radovan Bogdanovic, Natasa Stajic, Zaheer Valivullah, Monkol Lek, Shrikant Mane, Richard P. Lifton, Velibor Tasic, Shirlee Shril, Friedhelm Hildebrandt
Hum Genet. Author manuscript; available in PMC 2020 Oct 1.
Published in final edited form as: Hum Genet. 2019 Oct; 138(10): 1105–1115. Published online 2019 Jun 22. doi: 10.1007/s00439-019-02042-4
PMCID:
PMC6745245
AbstractArticlePDF–1.0M
20.
A preliminary study of the miRNA restitution effect on CNV-induced miRNA downregulation in CAKUT
Kristina Mitrovic, Ivan Zivotic, Ivana Kolic, Jelena Zakula, Maja Zivkovic, Aleksandra Stankovic, Ivan Jovanovic
BMC Genomics. 2024; 25: 218. Published online 2024 Feb 27. doi: 10.1186/s12864-024-10121-8
PMCID:
PMC10900603
AbstractArticlePDF–2.5M

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