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Items: 1 to 20 of 38

1.
A case report of NPHP1 deletion in Chinese twins with nephronophthisis
Feng Chen, Limeng Dai, Jun Zhang, Furong Li, Jinbo Cheng, Jinghong Zhao, Bo Zhang
BMC Med Genet. 2020; 21: 84. Published online 2020 Apr 19. doi: 10.1186/s12881-020-01025-x
PMCID:
PMC7168837
AbstractArticlePDF–744K
2.
Two novel homozygous mutations in NPHP1 lead to late onset end-stage renal disease: a case report of an adult nephronophthisis in a Chinese intermarriage family
Yiting Wang, Feng Chen, Jiali Wang, Yingwang Zhao, Fang Liu
BMC Nephrol. 2019; 20: 173. Published online 2019 May 16. doi: 10.1186/s12882-019-1372-4
PMCID:
PMC6524295
AbstractArticlePDF–972K
3.
NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD
Rozemarijn Snoek, Jessica van Setten, Brendan J. Keating, Ajay K. Israni, Pamala A. Jacobson, William S. Oetting, Arthur J. Matas, Roslyn B. Mannon, Zhongyang Zhang, Weijia Zhang, Ke Hao, Barbara Murphy, Roman Reindl-Schwaighofer, Andreas Heinzl, Rainer Oberbauer, Ondrej Viklicky, Peter J. Conlon, Caragh P. Stapleton, Stephan J.L. Bakker, Harold Snieder, Edith D.J. Peters, Bert van der Zwaag, Nine V.A.M. Knoers, Martin H. de Borst, Albertien M. van Eerde
J Am Soc Nephrol. 2018 Jun; 29(6): 1772–1779. Published online 2018 Apr 13. doi: 10.1681/ASN.2017111200
PMCID:
PMC6054334
AbstractArticle
4.
Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates
Bo Yuan, Pengfei Liu, Aditya Gupta, Christine R. Beck, Anusha Tejomurtula, Ian M. Campbell, Tomasz Gambin, Alexandra D. Simmons, Marjorie A. Withers, R. Alan Harris, Jeffrey Rogers, David C. Schwartz, James R. Lupski
PLoS Genet. 2015 Dec; 11(12): e1005686. Published online 2015 Dec 7. doi: 10.1371/journal.pgen.1005686
PMCID:
PMC4671654
AbstractArticlePDF–6.0M
5.
Characterization of the NPHP1 Locus: Mutational Mechanism Involved in Deletions in Familial Juvenile Nephronophthisis
Sophie Saunier, Joaquim Calado, France Benessy, Flora Silbermann, Roland Heilig, Jean Weissenbach, Corinne Antignac
Am J Hum Genet. 2000 Mar; 66(3): 778–789. Published online 2000 Mar 2. doi: 10.1086/302819
PMCID:
PMC1288163
AbstractArticlePDF–2.5M
6.
The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis Is Present in a Subset of Individuals with Joubert Syndrome
Melissa A. Parisi, Craig L. Bennett, Melissa L. Eckert, William B. Dobyns, Joseph G. Gleeson, Dennis W. W. Shaw, Ruth McDonald, Allison Eddy, Phillip F. Chance, Ian A. Glass
Am J Hum Genet. 2004 Jul; 75(1): 82–91. Published online 2004 May 11. doi: 10.1086/421846
PMCID:
PMC1182011
AbstractArticlePDF–393K
7.
C/EBPβ介导NPHP1敲低的肾小管上皮细胞TNF-α通路下游炎症因子的表达
黄 丹梅, 刘 雅清, 李 丹彤, 张 静兰, 杨 翌晨, 孙 良忠
Nan Fang Yi Ke Da Xue Xue Bao. 2024 Jan 20; 44(1): 156–165. Chinese. doi: 10.12122/j.issn.1673-4254.2024.01.18
PMCID:
PMC10878891
AbstractArticlePDF–2.5M
8.
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
9.
Clinical Characterization and NPHP1 Mutations in Nephronophthisis and Associated Ciliopathies: A Single Center Experience
Neveen A. Soliman, Friedhelm Hildebrandt, Edgar A. Otto, Marwa M. Nabhan, Susan J. Allen, Ahmed M. Badr, Maha Sheba, Sawsan Fadda, Ghada Gawdat, Hassan El-Kiky
Saudi J Kidney Dis Transpl. Author manuscript; available in PMC 2014 Sep 4.
Published in final edited form as: Saudi J Kidney Dis Transpl. 2012 Sep; 23(5): 1090–1098. doi: 10.4103/1319-2442.100968
PMCID:
PMC4154542
AbstractArticlePDF–230K
10.
Genome-wide analysis of copy number variants in age-related macular degeneration
Kacie J. Meyer, Lea K. Davis, Emily I. Schindler, John S. Beck, Danielle S. Rudd, A. Jason Grundstad, Todd E. Scheetz, Terry A. Braun, John H. Fingert, Wallace L. Alward, Young H. Kwon, James C. Folk, Stephen R. Russell, Thomas H. Wassink, Edwin M. Stone, Val C. Sheffield
Hum Genet. Author manuscript; available in PMC 2013 Apr 1.
Published in final edited form as: Hum Genet. 2011 Jan; 129(1): 91–100. Published online 2010 Oct 28. doi: 10.1007/s00439-010-0904-6
PMCID:
PMC3613489
AbstractArticlePDF–1.1M
11.
Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion
Julia Hoefele, Ahmet Nayir, Anita Imm, Susan J. Allen, Edgar A. Otto, Friedhelm Hildebrandt
Pediatr Nephrol. Author manuscript; available in PMC 2012 Jun 1.
Published in final edited form as: Pediatr Nephrol. 2011 Jun; 26(6): 967–971. Published online 2011 Jan 22. doi: 10.1007/s00467-011-1761-9
PMCID:
PMC3342573
AbstractArticlePDF–1.0M
12.
The Centrosomal Kinase Plk1 Localizes to the Transition Zone of Primary Cilia and Induces Phosphorylation of Nephrocystin-1
Tamina Seeger-Nukpezah, Max C. Liebau, Katja Höpker, Tobias Lamkemeyer, Thomas Benzing, Erica A. Golemis, Bernhard Schermer
PLoS One. 2012; 7(6): e38838. Published online 2012 Jun 11. doi: 10.1371/journal.pone.0038838
PMCID:
PMC3372538
AbstractArticlePDF–3.5M
13.
Nephrocystin-4 Regulates Pyk2-induced Tyrosine Phosphorylation of Nephrocystin-1 to Control Targeting to Monocilia
Max C. Liebau, Katja Höpker, Roman U. Müller, Ingolf Schmedding, Sibylle Zank, Benjamin Schairer, Francesca Fabretti, Martin Höhne, Malte P. Bartram, Claudia Dafinger, Matthias Hackl, Volker Burst, Sandra Habbig, Hanswalter Zentgraf, Andree Blaukat, Gerd Walz, Thomas Benzing, Bernhard Schermer
J Biol Chem. 2011 Apr 22; 286(16): 14237–14245. Published online 2011 Feb 28. doi: 10.1074/jbc.M110.165464
PMCID:
PMC3077625
AbstractArticlePDF–3.1M
14.
Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome
Anna Lindstrand, Erica E. Davis, Claudia M.B. Carvalho, Davut Pehlivan, Jason R. Willer, I-Chun Tsai, Subhadra Ramanathan, Craig Zuppan, Aniko Sabo, Donna Muzny, Richard Gibbs, Pengfei Liu, Richard A. Lewis, Eyal Banin, James R. Lupski, Robin Clark, Nicholas Katsanis
Am J Hum Genet. 2014 May 1; 94(5): 745–754. doi: 10.1016/j.ajhg.2014.03.017
PMCID:
PMC4067552
AbstractArticlePDF–1.7M
15.
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics
Claudia Dafinger, Max Christoph Liebau, Solaf Mohamed Elsayed, Yorck Hellenbroich, Eugen Boltshauser, Georg Christoph Korenke, Francesca Fabretti, Andreas Robert Janecke, Inga Ebermann, Gudrun Nürnberg, Peter Nürnberg, Hanswalter Zentgraf, Friederike Koerber, Klaus Addicks, Ezzat Elsobky, Thomas Benzing, Bernhard Schermer, Hanno Jörn Bolz
J Clin Invest. 2011 Jul 1; 121(7): 2662–2667. Published online 2011 Jun 1. doi: 10.1172/JCI43639
PMCID:
PMC3223820
AbstractArticlePDF–3.6M
16.
Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6
Marion Delous, Nathan E. Hellman, Helori-Maël Gaudé, Flora Silbermann, André Le Bivic, Rémi Salomon, Corinne Antignac, Sophie Saunier
Hum Mol Genet. 2009 Dec 15; 18(24): 4711–4723. Published online 2009 Sep 14. doi: 10.1093/hmg/ddp434
PMCID:
PMC2778369
AbstractArticlePDF–773K
17.
A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution
Edgar Otto, Julia Hoefele, Rainer Ruf, Adelheid M. Mueller, Karl S. Hiller, Matthias T. F. Wolf, Maria J. Schuermann, Achim Becker, Ralf Birkenhäger, Ralf Sudbrak, Hans C. Hennies, Peter Nürnberg, Friedhelm Hildebrandt
Am J Hum Genet. 2002 Nov; 71(5): 1161–1167. Published online 2002 Aug 29. doi: 10.1086/344395
Correction in:
Am J Hum Genet. 2002 Dec; 71(6): 1489.
PMCID:
PMC385091
AbstractArticlePDF–649K
18.
The Joubert Syndrome-associated Missense Mutation (V443D) in the Abelson-helper Integration Site 1 (AHI1) Protein Alters Its Localization and Protein-Protein Interactions
Karina Tuz, Yi-Chun Hsiao, Oscar Juárez, Bingxing Shi, Erin Y. Harmon, Ian G. Phelps, Michelle R. Lennartz, Ian A. Glass, Dan Doherty, Russell J. Ferland
J Biol Chem. 2013 May 10; 288(19): 13676–13694. Published online 2013 Mar 26. doi: 10.1074/jbc.M112.420786
PMCID:
PMC3650405
AbstractArticlePDF–4.7M
19.
Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia
Bernhard Schermer, Katja Höpker, Heymut Omran, Cristina Ghenoiu, Manfred Fliegauf, Andrea Fekete, Judit Horvath, Michael Köttgen, Matthias Hackl, Stefan Zschiedrich, Tobias B Huber, Albrecht Kramer-Zucker, Hanswalter Zentgraf, Andree Blaukat, Gerd Walz, Thomas Benzing
EMBO J. 2005 Dec 21; 24(24): 4415–4424. Published online 2005 Nov 24. doi: 10.1038/sj.emboj.7600885
PMCID:
PMC1356326
AbstractArticlePDF–866K
20.
Nephrocystin interacts with Pyk2, p130Cas, and tensin and triggers phosphorylation of Pyk2
Thomas Benzing, Peter Gerke, Katja Höpker, Friedhelm Hildebrandt, Emily Kim, Gerd Walz
Proc Natl Acad Sci U S A. 2001 Aug 14; 98(17): 9784–9789. Published online 2001 Aug 7. doi: 10.1073/pnas.171269898
PMCID:
PMC55530
AbstractArticlePDF–462K

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