PMC Articles for MedGen (Select 461769) - PMC

Select item 104327131.

Mutational burden of XPNPEP3 leads to defects in mitochondrial complex I and cilia in NPHPL1

Lingxiao Tong, Jia Rao, Chenxi Yang, Jie Xu, Yijun Lu, Yuchen Zhang, Xiaohui Cang, Shanshan Xie, Jianhua Mao, Pingping Jiang

iScience. 2023 Aug 18; 26(8): 107446. Published online 2023 Jul 23. doi: 10.1016/j.isci.2023.107446

PMCID:: PMC10432713

Abstract Article PDF–5.8M

Select item 28279512.

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

John F. O’Toole, Yangjian Liu, Erica E. Davis, Christopher J. Westlake, Massimo Attanasio, Edgar A. Otto, Dominik Seelow, Gudrun Nurnberg, Christian Becker, Matti Nuutinen, Mikko Kärppä, Jaakko Ignatius, Johanna Uusimaa, Salla Pakanen, Elisa Jaakkola, Lambertus P. van den Heuvel, Henry Fehrenbach, Roger Wiggins, Meera Goyal, Weibin Zhou, Matthias T.F. Wolf, Eric Wise, Juliana Helou, Susan J. Allen, Carlos A. Murga-Zamalloa, Shazia Ashraf, Moumita Chaki, Saskia Heeringa, Gil Chernin, Bethan E. Hoskins, Hassan Chaib, Joseph Gleeson, Takehiro Kusakabe, Takako Suzuki, R. Elwyn Isaac, Lynne M. Quarmby, Bryan Tennant, Hisashi Fujioka, Hannu Tuominen, Ilmo Hassinen, Hellevi Lohi, Judith L. van Houten, Agnes Rotig, John A. Sayer, Boris Rolinski, Peter Freisinger, Sethu M. Madhavan, Martina Herzer, Florence Madignier, Holger Prokisch, Peter Nurnberg, Peter Jackson, Hemant Khanna, Nicholas Katsanis, Friedhelm Hildebrandt

J Clin Invest. 2010 Mar 1; 120(3): 791–802. Published online 2010 Feb 22. doi: 10.1172/JCI40076

Correction in:: J Clin Invest. 2010 Apr 1; 120(4): 1362.

PMCID:: PMC2827951

Abstract Article PDF–4.0M

Select item 76015413.

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 39130434.

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

Abstract Article PDF–3.0M

Select item 36653985.

Mutation of the Mg²⁺ Transporter SLC41A1 Results in a Nephronophthisis-Like Phenotype

Toby W. Hurd, Edgar A. Otto, Eikan Mishima, Heon Yung Gee, Hana Inoue, Masato Inazu, Hideomi Yamada, Jan Halbritter, George Seki, Masato Konishi, Weibin Zhou, Tsutomo Yamane, Satoshi Murakami, Gianluca Caridi, Gianmarco Ghiggeri, Takaaki Abe, Friedhelm Hildebrandt

J Am Soc Nephrol. 2013 May 31; 24(6): 967–977. Published online 2013 May 9. doi: 10.1681/ASN.2012101034

PMCID:: PMC3665398

Abstract Article

Select item 28279716.

Lights on for aminopeptidases in cystic kidney disease

Erwin P. Böttinger

J Clin Invest. 2010 Mar 1; 120(3): 660–663. Published online 2010 Feb 22. doi: 10.1172/JCI42378

PMCID:: PMC2827971

Abstract Article PDF–1017K

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