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Items: 1 to 20 of 28

1.
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
ArticlePDF–794K
2.
Biallelic variants in CEP164 cause a motile ciliopathy‐like syndrome
Laura A. Devlin, Janice Coles, Claire L. Jackson, Miguel Barroso‐Gil, Ben Green, Woolf T. Walker, N. Simon Thomas, James Thompson, Simon A. Rock, Ruxandra Neatu, Laura Powell, Elisa Molinari, Genomics England Research Consortium, Ian J. Wilson, Heather J. Cordell, Eric Olinger, Colin G. Miles, John A. Sayer, Gabrielle Wheway, Jane S. Lucas
Clin Genet. 2023 Mar; 103(3): 330–334. Published online 2022 Nov 3. doi: 10.1111/cge.14251
PMCID:
PMC10099168
ArticlePDF–2.2M
3.
Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants
Jun Wang, Holly R. Thomas, Robert G. Thompson, Stephanie C. Waldrep, Joseph Fogerty, Ping Song, Zhang Li, Yongjie Ma, Peu Santra, Jonathan D. Hoover, Nan Cher Yeo, Iain A. Drummond, Bradley K. Yoder, Jeffrey D. Amack, Brian Perkins, John M. Parant
Dis Model Mech. 2022 Dec 1; 15(12): dmm049568. Published online 2022 Dec 19. doi: 10.1242/dmm.049568
PMCID:
PMC9844136
Article
4.
Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis
Lena Obeidova, Tomas Seeman, Filip Fencl, Kveta Blahova, Jan Hojny, Veronika Elisakova, Jana Reiterova, Jitka Stekrova
PLoS One. 2020; 15(6): e0235071. Published online 2020 Jun 23. doi: 10.1371/journal.pone.0235071
PMCID:
PMC7310724
ArticlePDF–563K
5.
Embryonic and foetal expression patterns of the ciliopathy gene CEP164
L. A. Devlin, S. A. Ramsbottom, L. M. Overman, S. N. Lisgo, G. Clowry, E. Molinari, L. Powell, C. G. Miles, J. A. Sayer
PLoS One. 2020; 15(1): e0221914. Published online 2020 Jan 28. doi: 10.1371/journal.pone.0221914
PMCID:
PMC6986751
ArticlePDF–5.0M
6.
Defects in ciliary localization of Nek8 is associated with cystogenesis
Melissa L. Trapp, Alevtina Galtseva, Danielle K. Manning, David R. Beier, Norman D. Rosenblum, Lynne M. Quarmby
Pediatr Nephrol. Author manuscript; available in PMC 2019 Dec 3.
Published in final edited form as: Pediatr Nephrol. 2008 Mar; 23(3): 377–387. Published online 2008 Jan 9. doi: 10.1007/s00467-007-0692-y
PMCID:
PMC6890203
ArticlePDF–1.3M
7.
Roscovitine blocks collecting duct cyst growth in Cep164-deficient kidneys
Rannar Airik, Merlin Airik, Markus Schueler, Carlton M. Bates, Friedhelm Hildebrandt
Kidney Int. Author manuscript; available in PMC 2020 Aug 1.
Published in final edited form as: Kidney Int. 2019 Aug; 96(2): 320–326. Published online 2019 May 8. doi: 10.1016/j.kint.2019.04.014
PMCID:
PMC6650321
ArticlePDF–1009K
8.
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
Article
9.
The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development
Sylvia Hoff, Daniel Epting, Nathalie Falk, Sophie Schroda, Daniela A. Braun, Jan Halbritter, Friedhelm Hildebrandt, Albrecht Kramer-Zucker, Carsten Bergmann, Gerd Walz, Soeren S. Lienkamp
J Biol Chem. 2018 Sep 28; 293(39): 15243–15255. Published online 2018 Aug 15. doi: 10.1074/jbc.RA117.000847
PMCID:
PMC6166740
ArticlePDF–4.2M
10.
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
ArticlePDF–3.0M
11.
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
ArticlePDF–75K
12.
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
Article
13.
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
ArticlePDF–1.1M
14.
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
ArticlePDF–728K
15.
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
ArticlePDF–767K
16.
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
ArticlePDF–3.1M
17.
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
ArticlePDF–3.9M
18.
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
ArticlePDF–2.8M
19.
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
Article
20.
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
ArticlePDF–4.7M

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