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Items: 1 to 20 of 38

1.
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
2.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
3.
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
4.
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
5.
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
6.
Targeted deletion of the AAA-ATPase Ruvbl1 in mice disrupts ciliary integrity and causes renal disease and hydrocephalus
Claudia Dafinger, Markus M. Rinschen, Lori Borgal, Carolin Ehrenberg, Sander G. Basten, Mareike Franke, Martin Höhne, Manfred Rauh, Heike Göbel, Wilhelm Bloch, F. Thomas Wunderlich, Dorien J. M. Peters, Dirk Tasche, Tripti Mishra, Sandra Habbig, Jörg Dötsch, Roman-Ulrich Müller, Jens C. Brüning, Thorsten Persigehl, Rachel H. Giles, Thomas Benzing, Bernhard Schermer, Max C. Liebau
Exp Mol Med. 2018 Jun; 50(6): 1–17. Published online 2018 Jun 28. doi: 10.1038/s12276-018-0108-z
PMCID:
PMC6026120
AbstractArticlePDF–2.8M
7.
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
8.
Architecture of the human interactome defines protein communities and disease networks
Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper
Nature. Author manuscript; available in PMC 2017 Nov 17.
Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366
PMCID:
PMC5531611
AbstractArticlePDF–2.7M
9.
Gsk3β and Tomm20 are substrates of the SCFFbxo7/PARK15 ubiquitin ligase associated with Parkinson's disease
Felipe Roberti Teixeira, Suzanne J. Randle, Shachi P. Patel, Tycho E.T. Mevissen, Grasilda Zenkeviciute, Tie Koide, David Komander, Heike Laman
Biochem J. 2016 Oct 15; 473(20): 3563–3580. Prepublished online 2016 Aug 8. Published online 2016 Oct 11. doi: 10.1042/BCJ20160387
PMCID:
PMC5260939
AbstractArticlePDF–1.1M
10.
A dynamic protein interaction landscape of the human centrosome-cilium interface
Gagan D. Gupta, Étienne Coyaud, João Gonçalves, Bahareh A. Mojarad, Yi Liu, Qianzhu Wu, Ladan Gheiratmand, David Comartin, Johnny M. Tkach, Sally W.T. Cheung, Mikhail Bashkurov, Monica Hasegan, James D. Knight, Zhen-Yuan Lin, Markus Schueler, Friedhelm Hildebrandt, Jason Moffat, Anne-Claude Gingras, Brian Raught, Laurence Pelletier
Cell. Author manuscript; available in PMC 2016 Dec 3.
Published in final edited form as: Cell. 2015 Dec 3; 163(6): 1484–1499. doi: 10.1016/j.cell.2015.10.065
PMCID:
PMC5089374
AbstractArticlePDF–1.5M
11.
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group
Nat Commun. 2016; 7: 11491. Published online 2016 May 13. doi: 10.1038/ncomms11491
PMCID:
PMC4869170
AbstractArticlePDF–2.0M
12.
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
13.
hORFeome v3.1: A resource of human open reading frames representing over 10,000 human genes
Philippe Lamesch, Ning Li, Stuart Milstein, Changyu Fan, Tong Hao, Gabor Szabo, Zhenjun Hu, Kavitha Venkatesan, Graeme Bethel, Paul Martin, Jane Rogers, Stephanie Lawlor, Stuart McLaren, Amélie Dricot, Heather Borick, Michael E. Cusick, Jean Vandenhaute, Ian Dunham, David E. Hill, Marc Vidal
Genomics. 2007 Mar; 89(3): 307–315. doi: 10.1016/j.ygeno.2006.11.012
PMCID:
PMC4647941
AbstractArticle
14.
Preferred SH3 Domain Partners of ADAM Metalloproteases Include Shared and ADAM-Specific SH3 Interactions
Iivari Kleino, Annika Järviluoma, Jussi Hepojoki, Ari Pekka Huovila, Kalle Saksela
PLoS One. 2015; 10(3): e0121301. Published online 2015 Mar 31. doi: 10.1371/journal.pone.0121301
PMCID:
PMC4380453
AbstractArticlePDF–2.3M
15.
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
16.
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
17.
Mutation Analysis of 18 Nephronophthisis-associated Ciliopathy Disease Genes using a DNA Pooling and Next-Generation Sequencing Strategy
Edgar A. Otto, Gokul Ramaswami, Sabine Janssen, Moumita Chaki, Susan J. Allen, Weibin Zhou, Rannar Airik, Toby W. Hurd, Amiya K. Ghosh, Matthias T. Wolf, Bernd Hoppe, Thomas J. Neuhaus, Detlef Bockenhauer, David V. Milford, Neveen A. Soliman, the GPN Study Group, Corinne Antignac, Sophie Saunier, Colin A. Johnson, Friedhelm Hildebrandt
J Med Genet. Author manuscript; available in PMC 2014 Feb 4.
Published in final edited form as: J Med Genet. 2011 Feb; 48(2): 105–116. Published online 2010 Nov 10. doi: 10.1136/jmg.2010.082552
Correction in:
J Med Genet. 2015 Dec; 52(12): 866.
PMCID:
PMC3913043
AbstractArticlePDF–3.0M
18.
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
19.
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
20.
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

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