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Items: 1 to 20 of 64

1.
Differential regulation of MYC expression by PKHD1/Pkhd1 in human and mouse kidneys: phenotypic implications for recessive polycystic kidney disease
Naoe Harafuji, Chaozhe Yang, Maoqing Wu, Girija Thiruvengadam, Heather Gordish-Dressman, R. Griffin Thompson, P. Darwin Bell, Avi Z. Rosenberg, Claudia Dafinger, Max C. Liebau, Zsuzsanna Bebok, Ljubica Caldovic, Lisa M. Guay-Woodford
Front Cell Dev Biol. 2023; 11: 1270980. Published online 2023 Nov 17. doi: 10.3389/fcell.2023.1270980
PMCID:
PMC10731465
ArticlePDF–2.4M
2.
Fibrocystin/Polyductin releases a C-terminal fragment that translocates into mitochondria and suppresses cystogenesis
Rebecca V Walker, Qin Yao, Hangxue Xu, Anthony Maranto, Kristen F Swaney, Sreekumar Ramachandran, Rong Li, Laura Cassina, Brian M Polster, Patricia Outeda, Alessandra Boletta, Terry Watnick, Feng Qian
Nat Commun. 2023; 14: 6513. Published online 2023 Oct 16. doi: 10.1038/s41467-023-42196-4
PMCID:
PMC10579373
ArticlePDF–12M
3.
Fetal renal cystic disease and post-natal follow up—a single center experience
Lorena Botero-Calderon, Anne Lawrence, Natalie O’Toole, Lisa M. Guay-Woodford
Front Pediatr. 2023; 11: 1243504. Published online 2023 Aug 10. doi: 10.3389/fped.2023.1243504
PMCID:
PMC10449118
ArticlePDF–275K
4.
Clinical Characteristics and Courses of Patients With Autosomal Recessive Polycystic Kidney Disease-Mimicking Phenocopies
Abdul A. Halawi, Kathrin Burgmaier, Anja K. Buescher, Ismail Dursun, Florian Erger, Matthias Galiano, Michaela Gessner, Ibrahim Gökce, Djalila Mekahli, Sevgi Mir, Lukasz Obrycki, Rukshana Shroff, Stella Stabouli, Maria Szczepanska, Ana Teixeira, Lutz T. Weber, Andrea Wenzel, Elke Wühl, Katarzyna Zachwieja, Jörg Dötsch, Franz Schaefer, Max C. Liebau
Kidney Int Rep. 2023 Jul; 8(7): 1449–1454. Published online 2023 Apr 13. doi: 10.1016/j.ekir.2023.04.006
PMCID:
PMC10334384
ArticlePDF–376K
5.
Kidney concentrating capacity in children with autosomal recessive polycystic kidney disease is linked to glomerular filtration and hypertension
Tomáš Seeman, Kveta Bláhová, Filip Fencl, Richard Klaus, Bärbel Lange-Sperandio, Gabriela Hrčková, Ĺudmila Podracká
Pediatr Nephrol. 2023; 38(7): 2093–2100. Published online 2022 Dec 20. doi: 10.1007/s00467-022-05834-5
PMCID:
PMC10234879
ArticlePDF–751K
6.
Long-term outcome after combined or sequential liver and kidney transplantation in children with infantile and juvenile primary hyperoxaluria type 1
Sebastian Loos, Markus J. Kemper, Kaja Schmaeschke, Uta Herden, Lutz Fischer, Bernd Hoppe, Tanja Kersnik Levart, Enke Grabhorn, Raphael Schild, Jun Oh, Florian Brinkert
Front Pediatr. 2023; 11: 1157215. Published online 2023 Mar 17. doi: 10.3389/fped.2023.1157215
PMCID:
PMC10064088
ArticlePDF–771K
7.
Exome-First Strategy in Adult Patients With CKD: A Cohort Study
Alice Doreille, Yannis Lombardi, Marine Dancer, Radoslava Lamri, Quentin Testard, Xavier Vanhoye, Anne-Sophie Lebre, Hugo Garcia, Cédric Rafat, Nacera Ouali, Yosu Luque, Hassan Izzedine, Emmanuel Esteve, Alexandre Cez, Camille Petit-Hoang, Hélène François, Armance Marchal, Emmanuel Letavernier, Véronique Frémeaux-Bacchi, Jean-Jacques Boffa, Eric Rondeau, Laure Raymond, Laurent Mesnard
Kidney Int Rep. 2023 Mar; 8(3): 596–605. Published online 2022 Dec 17. doi: 10.1016/j.ekir.2022.12.007
PMCID:
PMC10014383
ArticlePDF–435K
8.
Design of two ongoing clinical trials of tolvaptan in the treatment of pediatric patients with autosomal recessive polycystic kidney disease
Djalila Mekahli, Max C. Liebau, Melissa A. Cadnapaphornchai, Stuart L. Goldstein, Larry A. Greenbaum, Mieczyslaw Litwin, Tomas Seeman, Franz Schaefer, Lisa M. Guay-Woodford
BMC Nephrol. 2023; 24: 33. Published online 2023 Feb 13. doi: 10.1186/s12882-023-03072-x
PMCID:
PMC9926647
ArticlePDF–1.2M
9.
Predominant Liver Cystic Disease in a New Heterozygotic PKHD1 Variant: A Case Report
Jacob D. Van Buren, Jeremy T. Neuman, Richard Sidlow
Am J Case Rep. 2023; 24: e938507-1–e938507-5. Published online 2023 Jan 24. doi: 10.12659/AJCR.938507
PMCID:
PMC9883601
ArticlePDF–965K
10.
Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease
Miranda Durkie, Jiehan Chong, Manoj K. Valluru, Peter C. Harris, Albert C. M. Ong
Genet Med. Author manuscript; available in PMC 2022 Dec 23.
Published in final edited form as: Genet Med. 2021 Apr; 23(4): 689–697. Published online 2020 Nov 10. doi: 10.1038/s41436-020-01026-4
PMCID:
PMC9782736
ArticlePDF–1.1M
11.
Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease
Jens Michael Hertz, Per Svenningsen, Henrik Dimke, Morten Buch Engelund, Hanne Nørgaard, Anita Hansen, Niels Marcussen, Helle Charlotte Thiesson, Carsten Bergmann, Martin J. Larsen
Pediatr Nephrol. 2022; 37(11): 2657–2665. Published online 2022 Feb 24. doi: 10.1007/s00467-022-05441-4
PMCID:
PMC9489574
ArticlePDF–1.0M
12.
Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease
Ramona Ajiri, Kathrin Burgmaier, Nurver Akinci, Ilse Broekaert, Anja Büscher, Ismail Dursun, Ali Duzova, Loai Akram Eid, Marc Fila, Michaela Gessner, Ibrahim Gokce, Laura Massella, Antonio Mastrangelo, Monika Miklaszewska, Larisa Prikhodina, Bruno Ranchin, Nadejda Ranguelov, Rina Rus, Lale Sever, Julia Thumfart, Lutz Thorsten Weber, Elke Wühl, Alev Yilmaz, Jörg Dötsch, Franz Schaefer, Max Christoph Liebau
Kidney Int Rep. 2022 Jul; 7(7): 1643–1652. Published online 2022 May 4. doi: 10.1016/j.ekir.2022.04.095
PMCID:
PMC9263410
ArticlePDF–1.1M
13.
Atypical Clinical Presentation of Autosomal Recessive Polycystic Kidney Mimicking Medullary Sponge Kidney Disease
Emmanuel Letavernier, Madeline Schwoehrer, Marine Livrozet, Camille Saint-Jacques, Laure Raymond, Radoslava Saraeva, Jean-Philippe Haymann, Vincent Frochot, Michel Daudon, Laurent Mesnard
Kidney Int Rep. 2022 Apr; 7(4): 916–919. Published online 2021 Dec 6. doi: 10.1016/j.ekir.2021.11.035
PMCID:
PMC9039475
ArticlePDF–424K
14.
Translational research approaches to study pediatric polycystic kidney disease
Max Christoph Liebau, Djalila Mekahli
Mol Cell Pediatr. 2021 Dec; 8: 20. Published online 2021 Dec 9. doi: 10.1186/s40348-021-00131-x
PMCID:
PMC8660924
ArticlePDF–1.0M
15.
Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD
Kathrin Burgmaier, Samuel Kilian, Klaus Arbeiter, Bahriye Atmis, Anja Büscher, Ute Derichs, Ismail Dursun, Ali Duzova, Loai Akram Eid, Matthias Galiano, Michaela Gessner, Ibrahim Gokce, Karsten Haeffner, Nakysa Hooman, Augustina Jankauskiene, Friederike Körber, Germana Longo, Laura Massella, Djalila Mekahli, Gordana Miloševski-Lomić, Hulya Nalcacioglu, Rina Rus, Rukshana Shroff, Stella Stabouli, Lutz T. Weber, Simone Wygoda, Alev Yilmaz, Katarzyna Zachwieja, Ilona Zagozdzon, Jörg Dötsch, Franz Schaefer, Max Christoph Liebau, The ARegPKD Consortium
Sci Rep. 2021; 11: 21677. Published online 2021 Nov 4. doi: 10.1038/s41598-021-00523-z
PMCID:
PMC8568977
ArticlePDF–1.5M
16.
Magnetic resonance elastography to quantify liver disease severity in autosomal recessive polycystic kidney disease
Erum A. Hartung, Juan S. Calle-Toro, Carolina Maya Lopera, Jessica Wen, Robert H. Carson, Mohini Dutt, Kathryn Howarth, Susan L. Furth, Kassa Darge, Suraj D. Serai
Abdom Radiol (NY) Author manuscript; available in PMC 2022 Feb 1.
Published in final edited form as: Abdom Radiol (NY). 2021 Feb; 46(2): 570–580. Published online 2020 Aug 5. doi: 10.1007/s00261-020-02694-1
PMCID:
PMC8527769
ArticlePDF–897K
17.
Early clinical management of autosomal recessive polycystic kidney disease
Max Christoph Liebau
Pediatr Nephrol. 2021; 36(11): 3561–3570. Published online 2021 Feb 17. doi: 10.1007/s00467-021-04970-8
PMCID:
PMC8497312
ArticlePDF–712K
18.
Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression
Chaozhe Yang, Naoe Harafuji, Amber K. O’Connor, Robert A. Kesterson, Jacob A. Watts, Amar J. Majmundar, Daniela A. Braun, Monkol Lek, Kristen M. Laricchia, Hanan M. Fathy, Shrikant Mane, Shirlee Shril, Friedhelm Hildebrandt, Lisa M. Guay-Woodford
Sci Rep. 2021; 11: 18274. Published online 2021 Sep 14. doi: 10.1038/s41598-021-97046-4
PMCID:
PMC8440558
ArticlePDF–2.8M
19.
Congenital Hepatic Fibrosis and Portal Hypertension in Autosomal Dominant Polycystic Kidney Disease
Kevin O’Brien, Esperanza Font-Montgomery, Linda Lukose, Joy Bryant, Katie Piwnica-Worms, Hailey Edwards, Lauren Riney, Angelica Garcia, Kailash Daryanani, Peter Choyke, Parvathi Mohan, Theo Heller, William A. Gahl, Meral Gunay-Aygun
J Pediatr Gastroenterol Nutr. Author manuscript; available in PMC 2021 Aug 16.
Published in final edited form as: J Pediatr Gastroenterol Nutr. 2012 Jan; 54(1): 83–89. doi: 10.1097/MPG.0b013e318228330c
PMCID:
PMC8366680
ArticlePDF–854K
20.
Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics
Jonathan de Fallois, Ria Schönauer, Johannes Münch, Mato Nagel, Bernt Popp, Jan Halbritter
Front Genet. 2021; 12: 682565. Published online 2021 Jun 25. doi: 10.3389/fgene.2021.682565
PMCID:
PMC8267867
ArticlePDF–1.2M

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