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Select item 65860801.

Treatment Potential for Macular Cone Vision in Leber Congenital Amaurosis Due to CEP290 or NPHP5 Mutations: Predictions From Artificial Intelligence

Alexander Sumaroka, Alexandra V. Garafalo, Evelyn P. Semenov, Rebecca Sheplock, Arun K. Krishnan, Alejandro J. Roman, Samuel G. Jacobson, Artur V. Cideciyan

Invest Ophthalmol Vis Sci. 2019 Jun; 60(7): 2551–2562. doi: 10.1167/iovs.19-27156

PMCID:: PMC6586080

Article PDF–2.0M

Select item 59490752.

Identification of a Mutation in CNNM4 by Whole Exome Sequencing in an Amish Family and Functional Link between CNNM4 and IQCB1

Sisi Li, Quansheng Xi, Xiaoyu Zhang, Dong Yu, Lin Li, Zhenyang Jiang, Qiuyun Chen, Qing K. Wang, Elias I. Traboulsi

Mol Genet Genomics. Author manuscript; available in PMC 2019 Jun 1.

Published in final edited form as: Mol Genet Genomics. 2018 Jun; 293(3): 699–710. Published online 2018 Jan 10. doi: 10.1007/s00438-018-1417-6

PMCID:: PMC5949075

Article PDF–1.2M

Select item 58526753.

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

Article PDF–75K

Select item 52911974.

Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation

Louise M. Downs, Erin M. Scott, Artur V. Cideciyan, Simone Iwabe, Valerie Dufour, Kristin L. Gardiner, Sem Genini, Luis Felipe Marinho, Alexander Sumaroka, Mychajlo S. Kosyk, Malgorzata Swider, Geoffrey K. Aguirre, Samuel G. Jacobson, William A. Beltran, Gustavo D. Aguirre

Hum Mol Genet. 2016 Oct 1; 25(19): 4211–4226. Published online 2016 Aug 9. doi: 10.1093/hmg/ddw254

PMCID:: PMC5291197

Article PDF–2.3M

Select item 39528805.

Variations in NPHP5 in Patients With Nonsyndromic Leber Congenital Amaurosis and Senior-Loken Syndrome

Edwin M. Stone, Artur V. Cideciyan, Tomas S. Aleman, Todd E. Scheetz, Alexander Sumaroka, Mary A. Ehlinger, Sharon B. Schwartz, Gerald A. Fishman, Elias I. Traboulsi, Byron L. Lam, Anne B. Fulton, Robert F. Mullins, Val C. Sheffield, Samuel G. Jacobson

Arch Ophthalmol. Author manuscript; available in PMC 2014 Mar 13.

Published in final edited form as: Arch Ophthalmol. 2011 Jan; 129(1): 81–87. doi: 10.1001/archophthalmol.2010.330

PMCID:: PMC3952880

Article PDF–2.0M

Select item 28073796.

Nephronophthisis: Disease Mechanisms of a Ciliopathy

Friedhelm Hildebrandt, Massimo Attanasio, Edgar Otto

J Am Soc Nephrol. Author manuscript; available in PMC 2010 Jan 15.

Published in final edited form as: J Am Soc Nephrol. 2009 Jan; 20(1): 23–35. Published online 2008 Dec 31. doi: 10.1681/ASN.2008050456

PMCID:: PMC2807379

Article PDF–8.8M

Select item 31555207.

Allelic Heterogeneity and Genetic Modifier Loci Contribute to Clinical Variation in Males with X-Linked Retinitis Pigmentosa Due to RPGR Mutations

Abigail T. Fahim, Sara J. Bowne, Lori S. Sullivan, Kaylie D. Webb, Jessica T. Williams, Dianna K. Wheaton, David G. Birch, Stephen P. Daiger

PLoS One. 2011; 6(8): e23021. Published online 2011 Aug 12. doi: 10.1371/journal.pone.0023021

PMCID:: PMC3155520

Article PDF–433K

Select item 41140758.

Polymorphic Variation of RPGRIP1L and IQCB1 as Modifiers of X-Linked Retinitis Pigmentosa Caused by Mutations in RPGR

Abigail T. Fahim, Sara J. Bowne, Lori S. Sullivan, Kaylie D. Webb, Jessica T. Williams, Dianna K. Wheaton, David G. Birch, Stephen P. Daiger

Adv Exp Med Biol. Author manuscript; available in PMC 2014 Jul 29.

Published in final edited form as: Adv Exp Med Biol. 2012; 723: 313–320. doi: 10.1007/978-1-4614-0631-0_41

PMCID:: PMC4114075

Article PDF–543K

Select item 30493619.

Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy

Artur V. Cideciyan, Rivka A. Rachel, Tomas S. Aleman, Malgorzata Swider, Sharon B. Schwartz, Alexander Sumaroka, Alejandro J. Roman, Edwin M. Stone, Samuel G. Jacobson, Anand Swaroop

Hum Mol Genet. 2011 Apr 1; 20(7): 1411–1423. Published online 2011 Jan 18. doi: 10.1093/hmg/ddr022

PMCID:: PMC3049361

Article PDF–879K

Select item 280228110.

Genetic and physical interaction between the NPHP5 and NPHP6 gene products

Tobias Schäfer, Michael Pütz, Soeren Lienkamp, Athina Ganner, Astrid Bergbreiter, Haribaskar Ramachandran, Verena Gieloff, Martin Gerner, Christian Mattonet, Peter G. Czarnecki, John A. Sayer, Edgar A. Otto, Friedhelm Hildebrandt, Albrecht Kramer-Zucker, Gerd Walz

Hum Mol Genet. 2008 Dec 1; 17(23): 3655–3662. Published online 2008 Aug 23. doi: 10.1093/hmg/ddn260

Correction in:: Hum Mol Genet. 2009 Nov 1; 18(21): 4226.

PMCID:: PMC2802281

Article PDF–817K

Select item 636239411.

Deubiquitylase USP9X maintains centriolar satellite integrity by stabilizing pericentriolar material 1 protein

Ke-Jun Han, Zhiping Wu, Chad G. Pearson, Junmin Peng, Kunhua Song, Chang-Wei Liu

J Cell Sci. 2019 Jan 15; 132(2): jcs221663. Published online 2019 Jan 22. doi: 10.1242/jcs.221663

PMCID:: PMC6362394

Article

Select item 544618712.

USP9X counteracts differential ubiquitination of NPHP5 by MARCH7 and BBS11 to regulate ciliogenesis

Arindam Das, Jin Qian, William Y. Tsang

PLoS Genet. 2017 May; 13(5): e1006791. Published online 2017 May 12. doi: 10.1371/journal.pgen.1006791

PMCID:: PMC5446187

Article PDF–2.7M

Select item 394316413.

Whole-Exome Sequencing Identifies ALMS1, IQCB1, CNGA3, and MYO7A Mutations in Patients with Leber Congenital Amaurosis

Xia Wang, Hui Wang, Ming Cao, Zhe Li, Xianfeng Chen, Claire Patenia, Athurva Gore, Emad B. Abboud, Ali A. Al-Rajhi, Richard A. Lewis, James R. Lupski, Graeme Mardon, Kun Zhang, Donna Muzny, Richard A. Gibbs, Rui Chen

Hum Mutat. Author manuscript; available in PMC 2014 Mar 5.

Published in final edited form as: Hum Mutat. 2011 Dec; 32(12): 1450–1459. Published online 2011 Sep 23. doi: 10.1002/humu.21587

PMCID:: PMC3943164

Article PDF–1.5M

Select item 379708814.

Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis

Marine Barbelanne, Jenny Song, Mustafa Ahmadzai, William Y. Tsang

Hum Mol Genet. Author manuscript; available in PMC 2013 Oct 15.

Published in final edited form as: Hum Mol Genet. 2013 Jun 15; 22(12): 2482–2494. Published online 2013 Feb 27. doi: 10.1093/hmg/ddt100

PMCID:: PMC3797088

Article PDF–1.8M

Select item 602612015.

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

Article PDF–2.8M

Select item 438006816.

Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery

Marine Barbelanne, Delowar Hossain, David Puth Chan, Johan Peränen, William Y. Tsang

Hum Mol Genet. 2015 Apr 15; 24(8): 2185–2200. Published online 2014 Dec 30. doi: 10.1093/hmg/ddu738

PMCID:: PMC4380068

Article PDF–1.6M

Select item 578915817.

Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation

Cecinio C. Ronquillo, Christin Hanke-Gogokhia, Monica P. Revelo, Jeanne M. Frederick, Li Jiang, Wolfgang Baehr

FASEB J. 2016 Oct; 30(10): 3400–3412. Published online 2016 Jun 21. doi: 10.1096/fj.201600511R

PMCID:: PMC5789158

Article

Select item 315529918.

Nephrocystins and MKS proteins interact with IFT particle and facilitate transport of selected ciliary cargos

Chengtian Zhao, Jarema Malicki

EMBO J. 2011 Jul 6; 30(13): 2532–2544. Published online 2011 May 20. doi: 10.1038/emboj.2011.165

PMCID:: PMC3155299

Article PDF–2.3M

Select item 391304319.

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

Article PDF–3.0M

Select item 362424920.

A High-Confidence Interaction Map Identifies SIRT1 as a Mediator of Acetylation of USP22 and the SAGA Coactivator Complex

Sean M. Armour, Eric J. Bennett, Craig R. Braun, Xiao-Yong Zhang, Steven B. McMahon, Steven P. Gygi, J. Wade Harper, David A. Sinclair

Mol Cell Biol. 2013 Apr; 33(8): 1487–1502. doi: 10.1128/MCB.00971-12

PMCID:: PMC3624249

Article PDF–3.4M

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