PMC Articles for MedGen (Select 369409) - PMC

Select item 82723691.

Atypical histological abnormalities in an adult patient with nephronophthisis harboring NPHP1 deletion: a case report

Maiko Akira, Hitoshi Suzuki, Arisa Ikeda, Masako Iwasaki, Daisuke Honda, Hisatsugu Takahara, Hisaki Rinno, Shigeki Tomita, Yusuke Suzuki

BMC Nephrol. 2021; 22: 261. Published online 2021 Jul 10. doi: 10.1186/s12882-021-02466-z

Correction in:: BMC Nephrol. 2023; 24: 327.

PMCID:: PMC8272369

Article PDF–1.1M

Select item 68902032.

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

Article PDF–1.3M

Select item 61232743.

GLIS1–3 transcription factors: critical roles in the regulation of multiple physiological processes and diseases

Anton M. Jetten

Cell Mol Life Sci. 2018 Oct; 75(19): 3473–3494. Published online 2018 May 19. doi: 10.1007/s00018-018-2841-9

PMCID:: PMC6123274

Article PDF–1.8M

Select item 55840744.

Loss of Glis2/NPHP7 causes kidney epithelial cell senescence and suppresses cyst growth in the Kif3a mouse model of cystic kidney disease

Dongmei Lu, Alysha Rauhauser, Binghua Li, Chongyu Ren, Kayla McEnery, Jili Zhu, Moumita Chaki, Komal Vadnagara, Sarah Elhadi, Anton M. Jetten, Peter Igarashi, Massimo Attanasio

Kidney Int. Author manuscript; available in PMC 2017 Sep 5.

Published in final edited form as: Kidney Int. 2016 Jun; 89(6): 1307–1323. doi: 10.1016/j.kint.2016.03.006

PMCID:: PMC5584074

Article PDF–1.4M

Select item 49300995.

The C175R mutation alters nuclear localization and transcriptional activity of the nephronophthisis NPHP7 gene product

Haribaskar Ramachandran, Toma A Yakulov, Christina Engel, Barbara Müller, Gerd Walz

Eur J Hum Genet. 2016 May; 24(5): 774–778. Published online 2015 Sep 16. doi: 10.1038/ejhg.2015.199

PMCID:: PMC4930099

Article PDF–942K

Select item 46438346.

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

Jan Halbritter, Jonathan D. Porath, Katrina A. Diaz, Daniela A. Braun, Stefan Kohl, Moumita Chaki, Susan J. Allen, Neveen A. Soliman, Friedhelm Hildebrandt, Edgar A. Otto

Hum Genet. Author manuscript; available in PMC 2015 Nov 13.

Published in final edited form as: Hum Genet. 2013 Aug; 132(8): 865–884. Published online 2013 Apr 5. doi: 10.1007/s00439-013-1297-0

PMCID:: PMC4643834

Article PDF–847K

Select item 44711957.

SUMOylation Blocks the Ubiquitin-Mediated Degradation of the Nephronophthisis Gene Product Glis2/NPHP7

Haribaskar Ramachandran, Konstantin Herfurth, Rudolf Grosschedl, Tobias Schäfer, Gerd Walz

PLoS One. 2015; 10(6): e0130275. Published online 2015 Jun 17. doi: 10.1371/journal.pone.0130275

PMCID:: PMC4471195

Article PDF–2.8M

Select item 41545428.

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

Article PDF–230K

Select item 39616649.

Interaction with the Bardet-Biedl Gene Product TRIM32/BBS11 Modifies the Half-life and Localization of Glis2/NPHP7

Haribaskar Ramachandran, Tobias Schäfer, Yunhee Kim, Konstantin Herfurth, Sylvia Hoff, Soeren S. Lienkamp, Albrecht Kramer-Zucker, Gerd Walz

J Biol Chem. 2014 Mar 21; 289(12): 8390–8401. Published online 2014 Feb 5. doi: 10.1074/jbc.M113.534024

PMCID:: PMC3961664

Article PDF–2.3M

Select item 391304310.

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 379981611.

Kristin Lichti-Kaiser, Gary ZeRuth, Hong Soon Kang, Shivakumar Vasanth, Anton M. Jetten

Vitam Horm. Author manuscript; available in PMC 2013 Oct 19.

Published in final edited form as: Vitam Horm. 2012; 88: 141–171. doi: 10.1016/B978-0-12-394622-5.00007-9

PMCID:: PMC3799816

Article PDF–1.4M

Select item 377199412.

A Complex of BBS1 and NPHP7 Is Required for Cilia Motility in Zebrafish

Yun Hee Kim, Daniel Epting, Krasimir Slanchev, Christina Engel, Gerd Walz, Albrecht Kramer-Zucker

PLoS One. 2013; 8(9): e72549. Published online 2013 Sep 12. doi: 10.1371/journal.pone.0072549

PMCID:: PMC3771994

Article PDF–2.2M

Select item 318899213.

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

Article PDF–463K

Select item 303932414.

Identification of Nuclear Localization, DNA Binding, and Transactivating Mechanisms of Krüppel-like Zinc Finger Protein Gli-Similar 2 (Glis2)

Shivakumar Vasanth, Gary ZeRuth, Hong Soon Kang, Anton M. Jetten

J Biol Chem. 2011 Feb 11; 286(6): 4749–4759. Published online 2010 Dec 2. doi: 10.1074/jbc.M110.165951

PMCID:: PMC3039324

Article PDF–3.6M

Select item 299688215.

Hong Soon Kang, Gary ZeRuth, Kristin Lichti-Kaiser, Shivakumar Vasanth, Zhengyu Yin, Yong-Sik Kim, Anton M. Jetten

Histol Histopathol. Author manuscript; available in PMC 2010 Dec 3.

Published in final edited form as: Histol Histopathol. 2010 Nov; 25(11): 1481–1496. doi: 10.14670/hh-25.1481

PMCID:: PMC2996882

Article PDF–1.4M

Select item 289401216.

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Enza Maria Valente, Clare V. Logan, Soumaya Mougou-Zerelli, Jeong Ho Lee, Jennifer L. Silhavy, Francesco Brancati, Miriam Iannicelli, Lorena Travaglini, Sveva Romani, Barbara Illi, Matthew Adams, Katarzyna Szymanska, Annalisa Mazzotta, Ji Eun Lee, Jerlyn C. Tolentino, Dominika Swistun, Carmelo D. Salpietro, Carmelo Fede, Stacey Gabriel, Carsten Russ, Kristian Cibulskis, Carrie Sougnez, Friedhelm Hildebrandt, Edgar A. Otto, Susanne Held, Bill H. Diplas, Erica Davis, Mario Mikula, Charles M. Strom, Bruria Ben-Ze’ev, Dorit Lev, Tally Lerman Sagie, Marina Michelson, Yuval Yaron, Amanda Krause, Eugen Boltshauser, Nadia Elkhartoufi, Joelle Roume, Stavit Shalev, Arnold Munnich, Sophie Saunier, Chris Inglehearn, Ali Saad, Adila Alkindy, Sophie Thomas, Michel Vekemans, Bruno Dallapiccola, Nicholas Katsanis, Colin A. Johnson, Tania Attié-Bitach, Joseph G. Gleeson

Nat Genet. Author manuscript; available in PMC 2011 Jan 1.

Published in final edited form as: Nat Genet. 2010 Jul; 42(7): 619–625. Published online 2010 May 30. doi: 10.1038/ng.594

PMCID:: PMC2894012

Article PDF–2.5M

Select item 280737917.

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 226841118.

Krüppel-Like Zinc Finger Protein Glis2 Is Essential for the Maintenance of Normal Renal Functions

Yong-Sik Kim, Hong Soon Kang, Ronald Herbert, Ju Youn Beak, Jennifer B. Collins, Sherry F. Grissom, Anton M. Jetten

Mol Cell Biol. 2008 Apr; 28(7): 2358–2367. Published online 2008 Jan 28. doi: 10.1128/MCB.01722-07

PMCID:: PMC2268411

Article PDF–848K

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