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Select item 41214751.

Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability

Marion Failler, Heon Yung Gee, Pauline Krug, Kwangsic Joo, Jan Halbritter, Lilya Belkacem, Emilie Filhol, Jonathan D. Porath, Daniela A. Braun, Markus Schueler, Amandine Frigo, Olivier Alibeu, Cécile Masson, Karine Brochard, Bruno Hurault de Ligny, Robert Novo, Christine Pietrement, Hulya Kayserili, Rémi Salomon, Marie-Claire Gubler, Edgar A. Otto, Corinne Antignac, Joon Kim, Alexandre Benmerah, Friedhelm Hildebrandt, Sophie Saunier

Am J Hum Genet. 2014 Jun 5; 94(6): 905–914. doi: 10.1016/j.ajhg.2014.05.002

PMCID:: PMC4121475

Abstract Article PDF–2.8M

Select item 44224892.

Nephronophthisis and related syndromes

Matthias T.F. Wolf

Curr Opin Pediatr. Author manuscript; available in PMC 2016 Apr 1.

Published in final edited form as: Curr Opin Pediatr. 2015 Apr; 27(2): 201–211. doi: 10.1097/MOP.0000000000000194

PMCID:: PMC4422489

Abstract Article PDF–767K

Select item 16480333.

Medullary Cystic Disease and Juvenile Nephronophthisis in Separate Members of the Same Family

M. J. Sworn, A. J. Eisinger

Arch Dis Child. 1972 Apr; 47(252): 278–281. doi: 10.1136/adc.47.252.278

PMCID:: PMC1648033

Summary Page Browse PDF–982K

Select item 16824794.

Mapping of a gene for familial juvenile nephronophthisis: Refining the map and defining flanking markers on chromosome 2

Friedhelm Hildebrandt, Iva Singh-Sawhney, Birgit Schnieders, Linda Centofante, Heymut Omran, Andreas Pohlmann, Cornelius Schmaltz, Horst Wedekind, Christian Schubotz, Corinne Antignac, James L. Weber, Matthias Brandis

Am J Hum Genet. 1993 Dec; 53(6): 1256–1261.

PMCID:: PMC1682479

Summary Page Browse PDF–1.0M

Select item 25632305.

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome

M A Parisi, D Doherty, M L Eckert, D W W Shaw, H Ozyurek, S Aysun, O Giray, A Al Swaid, S Al Shahwan, N Dohayan, E Bakhsh, O S Indridason, W B Dobyns, C L Bennett, P F Chance, I A Glass

J Med Genet. 2006 Apr; 43(4): 334–339. Published online 2005 Sep 9. doi: 10.1136/jmg.2005.036608

PMCID:: PMC2563230

Abstract Article PDF–307K

Select item 27426396.

Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in Southern India

Periasamy Sundaresan, P. Vijayalakshmi, Stewart Thompson, Audrey C. Ko, John H. Fingert, Edwin M. Stone

Mol Vis. 2009; 15: 1781–1787. Published online 2009 Sep 4.

PMCID:: PMC2742639

Abstract Article PDF–1.7M

Select item 28959857.

Impaired Wnt–β-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy

Madeline A Lancaster, Carrie M Louie, Jennifer L Silhavy, Louis Sintasath, Marvalyn DeCambre, Sanjay K Nigam, Karl Willert, Joseph G Gleeson

Nat Med. Author manuscript; available in PMC 2010 Jul 2.

Published in final edited form as: Nat Med. 2009 Sep; 15(9): 1046–1054. Published online 2009 Aug 30. doi: 10.1038/nm.2010

PMCID:: PMC2895985

Abstract Article PDF–1.6M

Select item 29187818.

Novel TMEM67 Mutations and Genotype-phenotype Correlates in Meckelin-related Ciliopathies

Miriam Iannicelli, Francesco Brancati, Soumaya Mougou-Zerelli, Annalisa Mazzotta, Sophie Thomas, Nadia Elkhartoufi, Lorena Travaglini, Céline Gomes, Gian Luigi Ardissino, Enrico Bertini, Eugen Boltshauser, Pierangela Castorina, Stefano D'Arrigo, Rita Fischetto, Brigitte Leroy, Philippe Loget, Maryse Bonnière, Lena Starck, Julia Tantau, Barbara Gentilin, Silvia Majore, Dominika Swistun, Elizabeth Flori, Faustina Lalatta, Chiara Pantaleoni, Johannes.Penzien, Paola Grammatico, the International JSRD Study Group, Bruno Dallapiccola, Joseph G. Gleeson, Tania Attie-Bitach, Enza Maria Valente

Hum Mutat. Author manuscript; available in PMC 2011 May 1.

Published in final edited form as: Hum Mutat. 2010 May; 31(5): E1319–E1331. doi: 10.1002/humu.21239

PMCID:: PMC2918781

Abstract Article PDF–166K

Select item 31310409.

Assessing the pathogenic potential of human Nephronophthisis disease-associated NPHP-4 missense mutations in C. elegans

Svetlana V. Masyukova, Marlene E. Winkelbauer, Corey L. Williams, Jay N. Pieczynski, Bradley K. Yoder

Hum Mol Genet. 2011 Aug 1; 20(15): 2942–2954. Published online 2011 May 5. doi: 10.1093/hmg/ddr198

PMCID:: PMC3131040

Abstract Article PDF–433K

Select item 343383510.

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

Moumita Chaki, Rannar Airik, Amiya K. Ghosh, Rachel H. Giles, Rui Chen, Gisela G. Slaats, Hui Wang, Toby W. Hurd, Weibin Zhou, Andrew Cluckey, Heon-Yung Gee, Gokul Ramaswami, Chen-Jei Hong, Bruce A. Hamilton, Igor Červenka, Ranjani Sri Ganji, Vitezslav Bryja, Heleen H. Arts, Jeroen van Reeuwijk, Machteld M. Oud, Stef J.F. Letteboer, Ronald Roepman, Hervé Husson, Oxana Ibraghimov-Beskrovnaya, Takayuki Ysunaga, Gerd Walz, Lorraine Eley, John A. Sayer, Bernhard Schermer, Max C. Liebau, Thomas Benzing, Stephanie Le Corre, Iain Drummond, Jaap A. Joles, Sabine Janssen, Susan J. Allen, Sivakumar Natarajan, John F. O Toole, Massimo Attanasio, Sophie Saunier, Corinne Antignac, Robert K. Koenekoop, Huanan Ren, Irma Lopez, Ahmet Nayir, Corinne Stoetzel, Helene Dollfus, Rustin Massoudi, Joseph G. Gleeson, Sharon P. Andreoli, Dan G. Doherty, Anna Lindstrad, Christelle Golzio, Nicholas Katsanis, Lars Pape, Emad B. Abboud, Ali A. Al-Rajhi, Richard A. Lewis, James R. Lupski, Heymut Omran, Eva Lee, Shaohui Wang, JoAnn M. Sekiguchi, Rudel Saunders, Colin A. Johnson, Elizabeth Garner, Katja Vanselow, Jens S. Andersen, Joseph Shlomai, Gudrun Nurnberg, Peter Nurnberg, Shawn Levy, Agata Smogorzewska, Edgar A. Otto, Friedhelm Hildebrandt

Cell. Author manuscript; available in PMC 2013 Feb 3.

Published in final edited form as: Cell. 2012 Aug 3; 150(3): 533–548. doi: 10.1016/j.cell.2012.06.028

PMCID:: PMC3433835

Abstract Article PDF–4.7M

Select item 366539811.

Mutation of the Mg²⁺ Transporter SLC41A1 Results in a Nephronophthisis-Like Phenotype

Toby W. Hurd, Edgar A. Otto, Eikan Mishima, Heon Yung Gee, Hana Inoue, Masato Inazu, Hideomi Yamada, Jan Halbritter, George Seki, Masato Konishi, Weibin Zhou, Tsutomo Yamane, Satoshi Murakami, Gianluca Caridi, Gianmarco Ghiggeri, Takaaki Abe, Friedhelm Hildebrandt

J Am Soc Nephrol. 2013 May 31; 24(6): 967–977. Published online 2013 May 9. doi: 10.1681/ASN.2012101034

PMCID:: PMC3665398

Abstract Article

Select item 420758712.

Nephronophthisis-Associated CEP164 Regulates Cell Cycle Progression, Apoptosis and Epithelial-to-Mesenchymal Transition

Gisela G. Slaats, Amiya K. Ghosh, Lucas L. Falke, Stéphanie Le Corre, Indra A. Shaltiel, Glenn van de Hoek, Timothy D. Klasson, Marijn F. Stokman, Ive Logister, Marianne C. Verhaar, Roel Goldschmeding, Tri Q. Nguyen, Iain A. Drummond, Friedhelm Hildebrandt, Rachel H. Giles

PLoS Genet. 2014 Oct; 10(10): e1004594. Published online 2014 Oct 23. doi: 10.1371/journal.pgen.1004594

PMCID:: PMC4207587

Abstract Article PDF–3.9M

Select item 424091413.

ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies

Carsten Bergmann

Pediatr Nephrol. 2015; 30(1): 15–30. Published online 2014 Mar 1. doi: 10.1007/s00467-013-2706-2

PMCID:: PMC4240914

Abstract Article PDF–3.1M

Select item 1048407714.

不同基因突变致肾单位肾痨及相关综合征患儿临床表型特点及基因分析

赵雪, 蒋丽君, 戎赞华, 窦志艳, 苏庆晓, 梁钰珩, 齐兴杰

Zhongguo Dang Dai Er Ke Za Zhi. 2023 Aug 15; 25(8): 831–836. Chinese. doi: 10.7499/j.issn.1008-8830.2303020

PMCID:: PMC10484077

Abstract Article PDF–794K

Select item 505252315.

Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum

Maleeha Maria, Ideke J. C. Lamers, Miriam Schmidts, Muhammad Ajmal, Sulman Jaffar, Ehsan Ullah, Bilal Mustafa, Shakeel Ahmad, Katia Nazmutdinova, Bethan Hoskins, Erwin van Wijk, Linda Koster-Kamphuis, Muhammad Imran Khan, Phil L. Beales, Frans P. M. Cremers, Ronald Roepman, Maleeha Azam, Heleen H. Arts, Raheel Qamar

Sci Rep. 2016; 6: 34764. Published online 2016 Oct 6. doi: 10.1038/srep34764

PMCID:: PMC5052523

Abstract Article PDF–728K

Select item 557655516.

Protein interaction analysis provides a map of the spatial and temporal organization of the ciliary gating zone

Daisuke Takao, Liang Wang, Allison Boss, Kristen J. Verhey

Curr Biol. Author manuscript; available in PMC 2018 Aug 7.

Published in final edited form as: Curr Biol. 2017 Aug 7; 27(15): 2296–2306.e3. Published online 2017 Jul 20. doi: 10.1016/j.cub.2017.06.044

PMCID:: PMC5576555

Abstract Article PDF–1.1M

Select item 571827317.

Prospective Evaluation of Kidney Disease in Joubert Syndrome

Leah R. Fleming, Daniel A. Doherty, Melissa A. Parisi, Ian A. Glass, Joy Bryant, Roxanne Fischer, Baris Turkbey, Peter Choyke, Kailash Daryanani, Meghana Vemulapalli, James C. Mullikin, May Christine Malicdan, Thierry Vilboux, John A. Sayer, William A. Gahl, Meral Gunay-Aygun

Clin J Am Soc Nephrol. 2017 Dec 7; 12(12): 1962–1973. Published online 2017 Nov 16. doi: 10.2215/CJN.05660517

PMCID:: PMC5718273

Abstract Article

Select item 585267518.

Gene mutations analysis in Iranian children with Nephronophthisis: A two-Centre Study

Alaleh Gheissari, Maryam Harandavar, Friedhelm Hildebrandt, Daniela A Braun, Maryam Sedghi, Nastaran Parsi, Alireza Merrikhi, Yahya Madihi, Farzaneh Aghamohammadi

Iran J Kidney Dis. Author manuscript; available in PMC 2018 Mar 15.

Published in final edited form as: Iran J Kidney Dis. 2015 Mar; 9(2): 119–125.

PMCID:: PMC5852675

Abstract Article PDF–75K

Select item 606844619.

Cilia‐localized LKB1 regulates chemokine signaling, macrophage recruitment, and tissue homeostasis in the kidney

Amandine Viau, Frank Bienaimé, Kamile Lukas, Abhijeet P Todkar, Manuel Knoll, Toma A Yakulov, Alexis Hofherr, Oliver Kretz, Martin Helmstädter, Wilfried Reichardt, Simone Braeg, Tom Aschman, Annette Merkle, Dietmar Pfeifer, Verónica I Dumit, Marie‐Claire Gubler, Roland Nitschke, Tobias B Huber, Fabiola Terzi, Jörn Dengjel, Florian Grahammer, Michael Köttgen, Hauke Busch, Melanie Boerries, Gerd Walz, Antigoni Triantafyllopoulou, E Wolfgang Kuehn

EMBO J. 2018 Aug 1; 37(15): e98615. Published online 2018 Jun 19. doi: 10.15252/embj.201798615

PMCID:: PMC6068446

Abstract Article PDF–3.0M

Select item 639092520.

Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS

Tony Yao, Khalil Udwan, Rohan John, Akanchaya Rana, Amirreza Haghighi, Lizhen Xu, Saidah Hack, Heather N. Reich, Michelle Adrienne Hladunewich, Daniel C. Cattran, Andrew D. Paterson, York Pei, Moumita Barua

Clin J Am Soc Nephrol. 2019 Feb 7; 14(2): 213–223. Published online 2019 Jan 15. doi: 10.2215/CJN.08750718

PMCID:: PMC6390925

Abstract Article

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