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Select item 109429411.

Ocular manifestations of renal ciliopathies

Omar Salehi, Heather Mack, Deb Colville, Debbie Lewis, Judy Savige

Pediatr Nephrol. 2024; 39(5): 1327–1346. Published online 2023 Aug 30. doi: 10.1007/s00467-023-06096-5

PMCID:: PMC10942941

Abstract Article PDF–1.4M

Select item 103589922.

Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease

Magdaléna Neřoldová, Elżbieta Ciara, Janka Slatinská, Soňa Fraňková, Petra Lišková, Radana Kotalová, Janka Globinovská, Markéta Šafaříková, Lucie Pfeiferová, Hana Zůnová, Lenka Mrázová, Viktor Stránecký, Alena Vrbacká, Ondřej Fabián, Eva Sticová, Daniela Skanderová, Jan Šperl, Marta Kalousová, Tomáš Zima, Milan Macek, Joanna Pawlowska, A. S. Knisely, Stanislav Kmoch, Milan Jirsa

PLoS One. 2023; 18(7): e0288907. Published online 2023 Jul 20. doi: 10.1371/journal.pone.0288907

PMCID:: PMC10358992

Abstract Article PDF–2.0M

Select item 100602853.

Genotype and phenotype analysis and transplantation strategy in children with kidney failure caused by NPHP

Jianyi Li, Xiaojun Su, Huanxi Zhang, Wenrui Wu, Jianming Li, Yanxu Chen, Jun Li, Qian Fu, Chenglin Wu, Xuhui Zhong, Changxi Wang, Longshan Liu

Pediatr Nephrol. 2023; 38(5): 1609–1620. Published online 2022 Oct 13. doi: 10.1007/s00467-022-05763-3

PMCID:: PMC10060285

Abstract Article PDF–2.0M

Select item 97593344.

Clock genes rescue nphp mutations in zebrafish

Nicolas Kayser, Friedemann Zaiser, Anna C Veenstra, Hui Wang, Burulca Göcmen, Priska Eckert, Henriette Franz, Anna Köttgen, Gerd Walz, Toma A Yakulov

Hum Mol Genet. 2022 Dec 15; 31(24): 4143–4158. Published online 2022 Jul 21. doi: 10.1093/hmg/ddac160

PMCID:: PMC9759334

Abstract Article PDF–1.9M

Select item 76909485.

Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment

Ria Schönauer, Wenjun Jin, Anastasia Ertel, Melanie Nemitz-Kliemchen, Nydia Panitz, Elena Hantmann, Anna Seidel, Daniela A. Braun, Shirlee Shril, Matthias Hansen, Khurrum Shahzad, Richard Sandford, Sophie Saunier, Alexandre Benmerah, Carsten Bergmann, Friedhelm Hildebrandt, Jan Halbritter

Kidney Int. Author manuscript; available in PMC 2021 Apr 1.

Published in final edited form as: Kidney Int. 2020 Oct; 98(4): 958–969. Published online 2020 Jun 4. doi: 10.1016/j.kint.2020.05.027

PMCID:: PMC7690948

Abstract Article PDF–1.3M

Select item 76015416.

Whole Exome Sequencing Reveals a XPNPEP3 Novel Mutation Causing Nephronophthisis in a Pediatric Patient

Rasoul Alizadeh, Sanaz Jamshidi, Mohammad Keramatipour, Parisa Moeinian, Rozita Hosseini, Hasan Otukesh, Saeed Talebi

Iran Biomed J. 2020 Nov; 24(6): 405–408. Published online 2020 May 31. doi: 10.29252/ibj.24.6.400

PMCID:: PMC7601541

Abstract Article PDF–755K

Select item 71688377.

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

Abstract Article PDF–744K

Select item 65242958.

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

Abstract Article PDF–972K

Select item 61753669.

Nephronophthisis: A review of genotype–phenotype correlation

Fenglan Luo, Yu‐Hong Tao

Nephrology (Carlton) 2018 Oct; 23(10): 904–911. Published online 2018 Jun 21. doi: 10.1111/nep.13393

PMCID:: PMC6175366

Abstract Article PDF–439K

Select item 585267510.

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

Abstract Article PDF–75K

Select item 571826311.

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

Abstract Article

Select item 529475412.

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis

Maxence S. Macia, Jan Halbritter, Marion Delous, Cecilie Bredrup, Arthur Gutter, Emilie Filhol, Anne E.C. Mellgren, Sabine Leh, Albane Bizet, Daniela A. Braun, Heon Y. Gee, Flora Silbermann, Charline Henry, Pauline Krug, Christine Bole-Feysot, Patrick Nitschké, Dominique Joly, Philippe Nicoud, André Paget, Heidi Haugland, Damien Brackmann, Nayir Ahmet, Richard Sandford, Nurcan Cengiz, Per M. Knappskog, Helge Boman, Bolan Linghu, Fan Yang, Edward J. Oakeley, Pierre Saint Mézard, Andreas W. Sailer, Stefan Johansson, Eyvind Rødahl, Sophie Saunier, Friedhelm Hildebrandt, Alexandre Benmerah

Am J Hum Genet. 2017 Feb 2; 100(2): 323–333. Published online 2017 Jan 12. doi: 10.1016/j.ajhg.2016.12.011

Correction in:: Am J Hum Genet. 2017 Feb 2; 100(2): 372.

PMCID:: PMC5294754

Abstract Article PDF–3.3M

Select item 508766113.

Drosophila sensory cilia lacking MKS proteins exhibit striking defects in development but only subtle defects in adults

Metta B. Pratt, Joshua S. Titlow, Ilan Davis, Amy R. Barker, Helen R. Dawe, Jordan W. Raff, Helio Roque

J Cell Sci. 2016 Oct 15; 129(20): 3732–3743. doi: 10.1242/jcs.194621

PMCID:: PMC5087661

Abstract Article

Select item 460918514.

Formation of the transition zone by Mks5/Rpgrip1L establishes a ciliary zone of exclusion (CIZE) that compartmentalises ciliary signalling proteins and controls PIP₂ ciliary abundance

Victor L Jensen, Chunmei Li, Rachel V Bowie, Lara Clarke, Swetha Mohan, Oliver E Blacque, Michel R Leroux

EMBO J. 2015 Oct 14; 34(20): 2537–2556. Published online 2015 Sep 21. doi: 10.15252/embj.201488044

PMCID:: PMC4609185

Abstract Article PDF–2.7M

Select item 442248915.

Nephronophthisis and related syndromes

Matthias T.F. Wolf

Curr Opin Pediatr. Author manuscript; available in PMC 2016 Apr 1.

Published in final edited form as: Curr Opin Pediatr. 2015 Apr; 27(2): 201–211. doi: 10.1097/MOP.0000000000000194

PMCID:: PMC4422489

Abstract Article PDF–767K

Select item 415454216.

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

Abstract Article PDF–230K

Select item 385496917.

Active Transport and Diffusion Barriers Restrict Joubert Syndrome-Associated ARL13B/ARL-13 to an Inv-like Ciliary Membrane Subdomain

Sebiha Cevik, Anna A. W. M. Sanders, Erwin Van Wijk, Karsten Boldt, Lara Clarke, Jeroen van Reeuwijk, Yuji Hori, Nicola Horn, Lisette Hetterschijt, Anita Wdowicz, Andrea Mullins, Katarzyna Kida, Oktay I. Kaplan, Sylvia E. C. van Beersum, Ka Man Wu, Stef J. F. Letteboer, Dorus A. Mans, Toshiaki Katada, Kenji Kontani, Marius Ueffing, Ronald Roepman, Hannie Kremer, Oliver E. Blacque

PLoS Genet. 2013 Dec; 9(12): e1003977. Published online 2013 Dec 5. doi: 10.1371/journal.pgen.1003977

PMCID:: PMC3854969

Abstract Article PDF–2.6M

Select item 349582818.

Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment

Dapeng Zhang, L. Aravind

Cell Cycle. 2012 Oct 15; 11(20): 3861–3875. doi: 10.4161/cc.22068

PMCID:: PMC3495828

Abstract Article PDF–3.9M

Select item 318899219.

Increased hedgehog signaling in postnatal kidney results in aberrant activation of nephron developmental programs

Binghua Li, Alysha A. Rauhauser, Julie Dai, Ramanavelan Sakthivel, Peter Igarashi, Anton M. Jetten, Massimo Attanasio

Hum Mol Genet. 2011 Nov 1; 20(21): 4155–4166. Published online 2011 Aug 4. doi: 10.1093/hmg/ddr339

PMCID:: PMC3188992

Abstract Article PDF–463K

Select item 313104020.

Assessing the pathogenic potential of human Nephronophthisis disease-associated NPHP-4 missense mutations in C. elegans

Svetlana V. Masyukova, Marlene E. Winkelbauer, Corey L. Williams, Jay N. Pieczynski, Bradley K. Yoder

Hum Mol Genet. 2011 Aug 1; 20(15): 2942–2954. Published online 2011 May 5. doi: 10.1093/hmg/ddr198

PMCID:: PMC3131040

Abstract Article PDF–433K

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