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Items: 1 to 20 of 30

1.
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
AbstractArticlePDF–2.8M
2.
A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping.
N B Haider, R Carmi, H Shalev, V C Sheffield, D Landau
Am J Hum Genet. 1998 Nov; 63(5): 1404–1410. doi: 10.1086/302108
PMCID:
PMC1377550
SummaryPDF–452K
3.
Nephronophthisis gene products display RNA-binding properties and are recruited to stress granules
Luisa Estrada Mallarino, Christina Engel, İbrahim Avşar Ilık, Daniel Maticzka, Florian Heyl, Barbara Müller, Toma A. Yakulov, Jörn Dengjel, Rolf Backofen, Asifa Akhtar, Gerd Walz
Sci Rep. 2020; 10: 15954. Published online 2020 Sep 29. doi: 10.1038/s41598-020-72905-8
PMCID:
PMC7524721
AbstractArticlePDF–7.9M
4.
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination
Edgar A Otto, Bernhard Schermer, Tomoko Obara, John F O'Toole, Karl S Hiller, Adelheid M Mueller, Rainer G Ruf, Julia Hoefele, Frank Beekmann, Daniel Landau, John W Foreman, Judith A Goodship, Tom Strachan, Andreas Kispert, Matthias T Wolf, Marie F Gagnadoux, Hubert Nivet, Corinne Antignac, Gerd Walz, Iain A Drummond, Thomas Benzing, Friedhelm Hildebrandt
Nat Genet. Author manuscript; available in PMC 2013 Aug 2.
Published in final edited form as: Nat Genet. 2003 Aug; 34(4): 413–420. doi: 10.1038/ng1217
PMCID:
PMC3732175
AbstractArticlePDF–795K
5.
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior–Løken syndrome
Juliana Helou, Edgar A Otto, Massimo Attanasio, Susan J Allen, Melissa A Parisi, Ian Glass, Boris Utsch, Seema Hashmi, Elisa Fazzi, Heymut Omran, John F O'Toole, John A Sayer, Friedhelm Hildebrandt
J Med Genet. 2007 Oct; 44(10): 657–663. Published online 2007 Jul 6. doi: 10.1136/jmg.2007.052027
PMCID:
PMC2597962
AbstractArticlePDF–1.2M
6.
Metabolic Phenotyping of Anks3 Depletion in mIMCD-3 cells - a Putative Nephronophthisis Candidate
Manuel Schlimpert, Simon Lagies, Vadym Budnyk, Barbara Müller, Gerd Walz, Bernd Kammerer
Sci Rep. 2018; 8: 9022. Published online 2018 Jun 13. doi: 10.1038/s41598-018-27389-y
PMCID:
PMC5998149
AbstractArticlePDF–3.7M
7.
Inactivation of Invs/Nphp2 in renal epithelial cells drives infantile nephronophthisis like phenotypes in mouse
Yuanyuan Li, Wenyan Xu, Svetlana Makova, Martina Brueckner, Zhaoxia Sun
eLife. 2023; 12: e82395. Published online 2023 Mar 15. doi: 10.7554/eLife.82395
PMCID:
PMC10154023
AbstractArticlePDF–4.6M
8.
Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes
Weicheng Chen, Feifei Wang, Weijia Zeng, Xinyan Zhang, Libing Shen, Yuan Zhang, Xiangyu Zhou
Hum Genomics. 2022; 16: 48. Published online 2022 Oct 22. doi: 10.1186/s40246-022-00421-z
PMCID:
PMC9587637
AbstractArticlePDF–5.0M
9.
Inv Acts as a Molecular Anchor for Nphp3 and Nek8 in the Proximal Segment of Primary Cilia
Dai Shiba, Danielle K. Manning, Hisashi Koga, David R. Beier, Takahiko Yokoyama
Cytoskeleton (Hoboken) Author manuscript; available in PMC 2022 May 26.
Published in final edited form as: Cytoskeleton (Hoboken). 2010 Feb; 67(2): 112–119. doi: 10.1002/cm.20428
PMCID:
PMC9134828
AbstractArticlePDF–724K
10.
Differential requirement of NPHP1 for compartmentalized protein localization during photoreceptor outer segment development and maintenance
Poppy Datta, J. Thomas Cribbs, Seongjin Seo
PLoS One. 2021; 16(5): e0246358. Published online 2021 May 7. doi: 10.1371/journal.pone.0246358
PMCID:
PMC8104407
AbstractArticlePDF–2.2M
11.
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
AbstractArticlePDF–563K
12.
A bell‐shaped pattern of urinary aquaporin‐2‐bearing extracellular vesicle release in an experimental model of nephronophthisis
Nobuyuki Mikoda, Hiroko Sonoda, Sayaka Oshikawa, Yuya Hoshino, Toshiyuki Matsuzaki, Masahiro Ikeda
Physiol Rep. 2019 May; 7(9): e14092. Published online 2019 May 9. doi: 10.14814/phy2.14092
PMCID:
PMC6509436
AbstractArticlePDF–1.0M
13.
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
AbstractArticlePDF–75K
14.
Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies
Jens König, Birgitta Kranz, Sabine König, Karl Peter Schlingmann, Andrea Titieni, Burkhard Tönshoff, Sandra Habbig, Lars Pape, Karsten Häffner, Matthias Hansen, Anja Büscher, Martin Bald, Heiko Billing, Raphael Schild, Ulrike Walden, Tobias Hampel, Hagen Staude, Magdalena Riedl, Norbert Gretz, Martin Lablans, Carsten Bergmann, Friedhelm Hildebrandt, Heymut Omran, Martin Konrad
Clin J Am Soc Nephrol. 2017 Dec 7; 12(12): 1974–1983. Published online 2017 Nov 16. doi: 10.2215/CJN.01280217
PMCID:
PMC5718263
AbstractArticle
15.
Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy
Hee Gyung Kang, Hyun Kyung Lee, Yo Han Ahn, Je-Gun Joung, Jaeyong Nam, Nayoung K D Kim, Jung Min Ko, Min Hyun Cho, Jae Il Shin, Joon Kim, Hye Won Park, Young Seo Park, Il-Soo Ha, Woo Yeong Chung, Dae-Yeol Lee, Su Young Kim, Woong Yang Park, Hae Il Cheong
Exp Mol Med. 2016 Aug; 48(8): e251. Published online 2016 Aug 5. doi: 10.1038/emm.2016.63
PMCID:
PMC5007639
AbstractArticlePDF–610K
16.
Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report
Liru Qiu, Jianhua Zhou
BMC Pediatr. 2016; 16: 44. Published online 2016 Mar 22. doi: 10.1186/s12887-016-0583-0
PMCID:
PMC4802576
AbstractArticlePDF–1.4M
17.
ANKS3 Co-Localises with ANKS6 in Mouse Renal Cilia and Is Associated with Vasopressin Signaling and Apoptosis In Vivo in Mice
Laure Delestré, Zeineb Bakey, Cécilia Prado, Sigrid Hoffmann, Marie-Thérèse Bihoreau, Brigitte Lelongt, Dominique Gauguier
PLoS One. 2015; 10(9): e0136781. Published online 2015 Sep 1. doi: 10.1371/journal.pone.0136781
PMCID:
PMC4556665
AbstractArticlePDF–12M
18.
Mutations in ANKS6 Cause a Nephronophthisis-Like Phenotype with ESRD
Ekim Z. Taskiran, Emine Korkmaz, Safak Gucer, Can Kosukcu, Figen Kaymaz, Cansu Koyunlar, Elizabeth C. Bryda, Moumita Chaki, Dongmei Lu, Komal Vadnagara, Cengiz Candan, Rezan Topaloglu, Franz Schaefer, Massimo Attanasio, Carsten Bergmann, Fatih Ozaltin
J Am Soc Nephrol. 2014 Aug; 25(8): 1653–1661. Published online 2014 Mar 6. doi: 10.1681/ASN.2013060646
PMCID:
PMC4116054
AbstractArticle
19.
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3
Sylvia Hoff, Jan Halbritter, Daniel Epting, Valeska Frank, Thanh-Minh T. Nguyen, Jeroen van Reeuwijk, Christopher Boehlke, Christoph Schell, Takayuki Yasunaga, Martin Helmstädter, Miriam Mergen, Emilie Filhol, Karsten Boldt, Nicola Horn, Marius Ueffing, Edgar A. Otto, Tobias Eisenberger, Mariet W. Elting, Joanna A.E. van Wijk, Detlef Bockenhauer, Neil J. Sebire, Søren Rittig, Mogens Vyberg, Troels Ring, Martin Pohl, Lars Pape, Thomas J. Neuhaus, Neveen A. Soliman Elshakhs, Sarah J. Koon, Peter C. Harris, Florian Grahammer, Tobias B. Huber, E. Wolfgang Kuehn, Albrecht Kramer-Zucker, Hanno J. Bolz, Ronald Roepman, Sophie Saunier, Gerd Walz, Friedhelm Hildebrandt, Carsten Bergmann, Soeren S. Lienkamp
Nat Genet. Author manuscript; available in PMC 2014 Feb 1.
Published in final edited form as: Nat Genet. 2013 Aug; 45(8): 951–956. Published online 2013 Jun 23. doi: 10.1038/ng.2681
PMCID:
PMC3786259
AbstractArticlePDF–1.1M
20.
Ciliopathies
Friedhelm Hildebrandt, Thomas Benzing, Nicholas Katsanis
N Engl J Med. Author manuscript; available in PMC 2013 May 1.
Published in final edited form as: N Engl J Med. 2011 Apr 21; 364(16): 1533–1543. doi: 10.1056/NEJMra1010172
PMCID:
PMC3640822
AbstractArticlePDF–3.1M

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