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Items: 1 to 20 of 33

1.
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
Laura R Claus, Chuan Chen, Jennifer Stallworth, Joshua L Turner, Gisela G. Slaats, Alexandra L Hawks, Holly Mabillard, Sarah R. Senum, Sujata Srikanth, Heather Flanagan-Steet, Raymond J. Louie, Josh Silver, Jordan Lerner-Ellis, Chantal Morel, Chloe Mighton, Frank Sleutels, Marjon van Slegtenhorst, Tjakko van Ham, Alice S. Brooks, Eiske M. Dorresteijn, Tahsin Stefan Barakat, Karin Dahan, Nathalie Demoulin, Eric Jean Goffin, Eric Olinger, Genomics England Research Consortium, Martin Larsen, Jens Michael Hertz, Marc R. Lilien, Lena Obeidová, Tomas Seeman, Hillarey K Stone, Larissa Kerecuk, Mihai Gurgu, Fjodor A Yousef Yengej, Carola ME Ammerlaan, Maarten B Rookmaaker, Christian Hanna, R. Curtis Rogers, Karen Duran, Edith Peters, John A. Sayer, Gijs van Haaften, Peter C. Harris, Kun Ling, Jennifer M. Mason, Albertien M. van Eerde, Richard Steet
Kidney Int. Author manuscript; available in PMC 2024 Nov 1.
Published in final edited form as: Kidney Int. 2023 Nov; 104(5): 995–1007. Published online 2023 Aug 19. doi: 10.1016/j.kint.2023.07.021
PMCID:
PMC10592035
AbstractArticlePDF–1.9M
2.
Caspase-1 and the inflammasome promote polycystic kidney disease progression
Katherine I. Swenson-Fields, Christopher J. Ward, Micaila E. Lopez, Shaneann Fross, Anna L. Heimes Dillon, James D. Meisenheimer, Adib J. Rabbani, Emily Wedlock, Malay K. Basu, Kyle P. Jansson, Peter S. Rowe, Jason R. Stubbs, Darren P. Wallace, Michael P. Vitek, Timothy A. Fields
Front Mol Biosci. 2022; 9: 971219. Published online 2022 Nov 29. doi: 10.3389/fmolb.2022.971219
PMCID:
PMC9745047
AbstractArticlePDF–3.3M
3.
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
4.
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
AbstractArticlePDF–1.3M
5.
NEK8 regulates DNA damage-induced RAD51 foci formation and replication fork protection
Antonio Abeyta, Maria Castella, Celine Jacquemont, Toshiyasu Taniguchi
Cell Cycle. 2017; 16(4): 335–347. Published online 2016 Nov 28. doi: 10.1080/15384101.2016.1259038
PMCID:
PMC5324754
AbstractArticlePDF–1.2M
6.
Reduction of ciliary length through pharmacologic or genetic inhibition of CDK5 attenuates polycystic kidney disease in a model of nephronophthisis
Hervé Husson, Sarah Moreno, Laurie A. Smith, Mandy M. Smith, Ryan J. Russo, Rose Pitstick, Mikhail Sergeev, Steven R. Ledbetter, Nikolay O. Bukanov, Monica Lane, Kate Zhang, Katy Billot, George Carlson, Jagesh Shah, Laurent Meijer, David R. Beier, Oxana Ibraghimov-Beskrovnaya
Hum Mol Genet. 2016 Jun 1; 25(11): 2245–2255. Published online 2016 Apr 5. doi: 10.1093/hmg/ddw093
PMCID:
PMC5081056
AbstractArticlePDF–1.0M
7.
High-resolution genetic localization of a modifying locus affecting disease severity in the juvenile cystic kidneys (jck) mouse model of polycystic kidney disease
David R. Beier
Mamm Genome. Author manuscript; available in PMC 2016 Sep 28.
Published in final edited form as: Mamm Genome. 2016 Jun; 27(5-6): 191–199. Published online 2016 Apr 25. doi: 10.1007/s00335-016-9633-z
PMCID:
PMC5039125
AbstractArticlePDF–581K
8.
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation
Valentina Grampa, Marion Delous, Mohamad Zaidan, Gweltas Odye, Sophie Thomas, Nadia Elkhartoufi, Emilie Filhol, Olivier Niel, Flora Silbermann, Corinne Lebreton, Sophie Collardeau-Frachon, Isabelle Rouvet, Jean-Luc Alessandri, Louise Devisme, Anne Dieux-Coeslier, Marie-Pierre Cordier, Yline Capri, Suonavy Khung-Savatovsky, Sabine Sigaudy, Rémi Salomon, Corinne Antignac, Marie-Claire Gubler, Alexandre Benmerah, Fabiola Terzi, Tania Attié-Bitach, Cécile Jeanpierre, Sophie Saunier
PLoS Genet. 2016 Mar; 12(3): e1005894. Published online 2016 Mar 11. doi: 10.1371/journal.pgen.1005894
PMCID:
PMC4788435
AbstractArticlePDF–5.8M
9.
Global genetic analysis in mice unveils central role for cilia in congenital heart disease
You Li, Nikolai T. Klena, George C Gabriel, Xiaoqin Liu, Andrew J. Kim, Kristi Lemke, Yu Chen, Bishwanath Chatterjee, William Devine, Rama Rao Damerla, Chien-fu Chang, Hisato Yagi, Jovenal T. San Agustin, Mohamed Thahir, Shane Anderton, Caroline Lawhead, Anita Vescovi, Herbert Pratt, Judy Morgan, Leslie Haynes, Cynthia L. Smith, Janan T. Eppig, Laura Reinholdt, Richard Francis, Linda Leatherbury, Madhavi K. Ganapathiraju, Kimimasa Tobita, Gregory J. Pazour, Cecilia W. Lo
Nature. Author manuscript; available in PMC 2015 Nov 28.
Published in final edited form as: Nature. 2015 May 28; 521(7553): 520–524. Published online 2015 Mar 25. doi: 10.1038/nature14269
PMCID:
PMC4617540
AbstractArticlePDF–518K
10.
ANKS6 is the critical activator of NEK8 kinase in embryonic situs determination and organ patterning
Peter G. Czarnecki, George C. Gabriel, Danielle K. Manning, Mikhail Sergeev, Kristi Lemke, Nikolai T. Klena, Xiaoqin Liu, Yu Chen, You Li, Jovenal T. San Agustin, Maija K. Garnaas, Richard J. Francis, Kimimasa Tobita, Wolfram Goessling, Gregory J. Pazour, Cecilia W. Lo, David R. Beier, Jagesh V. Shah
Nat Commun. Author manuscript; available in PMC 2015 Jul 20.
Published in final edited form as: Nat Commun. 2015; 6: 6023. Published online 2015 Jan 20. doi: 10.1038/ncomms7023
PMCID:
PMC4361001
AbstractArticlePDF–3.3M
11.
Downregulating Hedgehog Signaling Reduces Renal Cystogenic Potential of Mouse Models
Pamela V. Tran, George C. Talbott, Annick Turbe-Doan, Damon T. Jacobs, Michael P. Schonfeld, Luciane M. Silva, Anindita Chatterjee, Mary Prysak, Bailey A. Allard, David R. Beier
J Am Soc Nephrol. 2014 Oct; 25(10): 2201–2212. Published online 2014 Apr 3. doi: 10.1681/ASN.2013070735
PMCID:
PMC4178433
AbstractArticle
12.
Role of TGF-β in a Mouse Model of High Turnover Renal Osteodystrophy
Shiguang Liu, Wenping Song, Joseph H Boulanger, Wen Tang, Yves Sabbagh, Brian Kelley, Russell Gotschall, Susan Ryan, Lucy Phillips, Katie Malley, Xiaohong Cao, Tai-He Xia, Gehua Zhen, Xu Cao, Hong Ling, Paul C Dechow, Teresita M Bellido, Steven R Ledbetter, Susan C Schiavi
J Bone Miner Res. Author manuscript; available in PMC 2014 Jul 1.
Published in final edited form as: J Bone Miner Res. 2014 May; 29(5): 1141–1157. doi: 10.1002/jbmr.2120
PMCID:
PMC4076799
AbstractArticlePDF–1.6M
13.
Novel Protein Interactions with Endoglin and Activin Receptor-like Kinase 1: Potential Role in Vascular Networks
Guoxiong Xu, Miriam Barrios-Rodiles, Mirjana Jerkic, Andrei L. Turinsky, Robert Nadon, Sonia Vera, Despina Voulgaraki, Jeffrey L. Wrana, Mourad Toporsian, Michelle Letarte
Mol Cell Proteomics. 2014 Feb; 13(2): 489–502. Published online 2013 Dec 7. doi: 10.1074/mcp.M113.033464
PMCID:
PMC3916649
AbstractArticlePDF–4.1M
14.
NEK8 Links the ATR-regulated Replication Stress Response and S-phase CDK Activity to Renal Ciliopathies
Hyo Jei Claudia Choi, Jia-Ren Lin, Jean-Baptiste Vannier, Gisela G. Slaats, Andrew C. Kile, Renee D. Paulsen, Danielle K. Manning, David R. Beier, Rachel H. Giles, Simon J. Boulton, Karlene A. Cimprich
Mol Cell. Author manuscript; available in PMC 2014 Aug 22.
Published in final edited form as: Mol Cell. 2013 Aug 22; 51(4): 423–439. doi: 10.1016/j.molcel.2013.08.006
PMCID:
PMC3790667
AbstractArticlePDF–3.4M
15.
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
16.
Inhibition of glucosylceramide accumulation results in effective blockade of polycystic kidney disease in mouse models
Thomas A Natoli, Laurie A Smith, Kelly A Rogers, Bing Wang, Svetlana Komarnitsky, Yeva Budman, Alexei Belenky, Nikolay O Bukanov, William R Dackowski, Hervé Husson, Ryan J Russo, James A Shayman, Steven R Ledbetter, John P Leonard, Oxana Ibraghimov-Beskrovnaya
Nat Med. Author manuscript; available in PMC 2013 May 21.
Published in final edited form as: Nat Med. 2010 Jul; 16(7): 788–792. Published online 2010 Jun 20. doi: 10.1038/nm.2171
PMCID:
PMC3660226
ArticlePDF–1.7M
17.
Loss of the Ciliary Kinase Nek8 Causes Left-Right Asymmetry Defects
Danielle K. Manning, Mikhail Sergeev, Roy G. van Heesbeen, Michael D. Wong, Jin-Hee Oh, Yan Liu, R. Mark Henkelman, Iain Drummond, Jagesh V. Shah, David R. Beier
J Am Soc Nephrol. 2012 Dec 28; 24(1): 100–112. Published online 2012 Dec 28. doi: 10.1681/ASN.2012050490
PMCID:
PMC3537214
AbstractArticle
18.
A novel mutation causing nephronophthisis in the Lewis polycystic kidney rat localises to a conserved RCC1 domain in Nek8
John K McCooke, Rudi Appels, Roberto A Barrero, Alice Ding, Justyna E Ozimek-Kulik, Mathew I Bellgard, Grant Morahan, Jacqueline K Phillips
BMC Genomics. 2012; 13: 393. Published online 2012 Aug 16. doi: 10.1186/1471-2164-13-393
PMCID:
PMC3441220
AbstractArticlePDF–1.7M
19.
Mapping the Nephronophthisis-Joubert-Meckel-Gruber Protein Network Reveals Ciliopathy Disease Genes and Pathways
Liyun Sang, Julie J. Miller, Kevin C. Corbit, Rachel H. Giles, Matthew J. Brauer, Edgar A. Otto, Lisa M. Baye, Xiaohui Wen, Suzie J. Scales, Mandy Kwong, Erik G. Huntzicker, Mindan K. Sfakianos, Wendy Sandoval, J. Fernando Bazan, Priya Kulkarni, Francesc R. Garcia-Gonzalo, Allen D. Seol, John F. O'Toole, Susanne Held, Heiko M. Reutter, William S. Lane, Muhammad Arshad Rafiq, Abdul Noor, Muhammad Ansar, Akella Radha Rama Devi, Val C. Sheffield, Diane C. Slusarski, John B. Vincent, Daniel A. Doherty, Friedhelm Hildebrandt, Jeremy F. Reiter, Peter K. Jackson
Cell. Author manuscript; available in PMC 2012 Jun 26.
Published in final edited form as: Cell. 2011 May 13; 145(4): 513–528. doi: 10.1016/j.cell.2011.04.019
PMCID:
PMC3383065
AbstractArticlePDF–2.0M
20.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M

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