PMC Links for Gene (Select 149461) - PMC

Select item 64339011.

Disease-associated mutations of claudin-19 disrupt retinal neurogenesis and visual function

Shao-Bin Wang, Tao Xu, Shaomin Peng, Deepti Singh, Maryam Ghiassi-Nejad, Ron A. Adelman, Lawrence J. Rizzolo

Commun Biol. 2019; 2: 113. Published online 2019 Mar 25. doi: 10.1038/s42003-019-0355-0

PMCID:: PMC6433901

Select item 35368072.

Claudin-19 Mutations and Clinical Phenotype in Spanish Patients with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis

Félix Claverie-Martín, Víctor García-Nieto, Cesar Loris, Gema Ariceta, Inmaculada Nadal, Laura Espinosa, Ángeles Fernández-Maseda, Montserrat Antón-Gamero, África Avila, Álvaro Madrid, Hilaria González-Acosta, Elizabeth Córdoba-Lanus, Fernando Santos, Marta Gil-Calvo, Mar Espino, Elena García-Martinez, Ana Sanchez, Rafael Muley, RenalTube Group

PLoS One. 2013; 8(1): e53151. Published online 2013 Jan 3. doi: 10.1371/journal.pone.0053151

Correction in:: PLoS One. 2013; 8(10): 10.1371/annotation/25732fb0-ae38-40f6-b8c6-eb4ba94ac996.

PMCID:: PMC3536807

Abstract Article PDF–732K

Select item 30522263.

Renal, Ocular, and Neuromuscular Involvements in Patients with CLDN19 Mutations

Stanislas Faguer, Dominique Chauveau, Pascal Cintas, Ivan Tack, Olivier Cointault, Lionel Rostaing, Rosa Vargas-Poussou, David Ribes

Clin J Am Soc Nephrol. 2011 Feb; 6(2): 355–360. doi: 10.2215/CJN.02870310

PMCID:: PMC3052226

Abstract Article

Select item 79008694.

Knockdown of Claudin-19 in the Retinal Pigment Epithelium Is Accompanied by Slowed Phagocytosis and Increased Expression of SQSTM1

Fanfei Liu, Shaomin Peng, Ron A. Adelman, Lawrence J. Rizzolo

Invest Ophthalmol Vis Sci. 2021 Feb; 62(2): 14. Published online 2021 Feb 16. doi: 10.1167/iovs.62.2.14

PMCID:: PMC7900869

Abstract Article PDF–4.6M

Select item 43631785.

Biophysical Characterization of Interactions between the C-termini of Peripheral Nerve Claudins and the PDZ₁ Domain of Zonula Occludens

Jiawen Wu, Dungeng Peng, Yang Zhang, Zhenwei Lu, Markus Voehler, Charles R. Sanders, Jun Li

Biochem Biophys Res Commun. Author manuscript; available in PMC 2016 Mar 27.

Published in final edited form as: Biochem Biophys Res Commun. 2015 Mar 27; 459(1): 87–93. Published online 2015 Feb 21. doi: 10.1016/j.bbrc.2015.02.075

PMCID:: PMC4363178

Abstract Article PDF–1.1M

Select item 33382846.

Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis: Phenotype–Genotype Correlation and Outcome in 32 Patients with CLDN16 or CLDN19 Mutations

Astrid Godron, Jérôme Harambat, Valérie Boccio, Anne Mensire, Adrien May, Claire Rigothier, Lionel Couzi, Benoit Barrou, Michel Godin, Dominique Chauveau, Stanislas Faguer, Marion Vallet, Pierre Cochat, Philippe Eckart, Geneviève Guest, Vincent Guigonis, Pascal Houillier, Anne Blanchard, Xavier Jeunemaitre, Rosa Vargas-Poussou

Clin J Am Soc Nephrol. 2012 May; 7(5): 801–809. doi: 10.2215/CJN.12841211

PMCID:: PMC3338284

Abstract Article

Select item 16985617.

Mutations in the Tight-Junction Gene Claudin 19 (CLDN19) Are Associated with Renal Magnesium Wasting, Renal Failure, and Severe Ocular Involvement

Martin Konrad, André Schaller, Dominik Seelow, Amit V. Pandey, Siegfried Waldegger, Annegret Lesslauer, Helga Vitzthum, Yoshiro Suzuki, John M. Luk, Christian Becker, Karl P. Schlingmann, Marcel Schmid, Juan Rodriguez-Soriano, Gema Ariceta, Francisco Cano, Ricardo Enriquez, Harald Jüppner, Sevcan A. Bakkaloglu, Matthias A. Hediger, Sabina Gallati, Stephan C. F. Neuhauss, Peter Nürnberg, Stefanie Weber

Am J Hum Genet. 2006 Nov; 79(5): 949–957. Published online 2006 Sep 19. doi: 10.1086/508617

PMCID:: PMC1698561

Abstract Article PDF–4.2M

Select item 62188168.

Claudin-14 Gene Polymorphisms and Urine Calcium Excretion

Teresa Arcidiacono, Marco Simonini, Chiara Lanzani, Lorena Citterio, Erika Salvi, Cristina Barlassina, Donatella Spotti, Daniele Cusi, Paolo Manunta, Giuseppe Vezzoli

Clin J Am Soc Nephrol. 2018 Oct 8; 13(10): 1542–1549. Published online 2018 Sep 19. doi: 10.2215/CJN.01770218

PMCID:: PMC6218816

Abstract Article

Select item 27457609.

The claudins

Madhu Lal-Nag, Patrice J Morin

Genome Biol. 2009; 10(8): 235. Published online 2009 Aug 26. doi: 10.1186/gb-2009-10-8-235

PMCID:: PMC2745760

Abstract Article PDF–391K

Select item 444121510.

Widespread Macromolecular Interaction Perturbations in Human Genetic Disorders

Nidhi Sahni, Song Yi, Mikko Taipale, Juan I. Fuxman Bass, Jasmin Coulombe-Huntington, Fan Yang, Jian Peng, Jochen Weile, Georgios I. Karras, Yang Wang, István A. Kovács, Atanas Kamburov, Irina Krykbaeva, Mandy H. Lam, George Tucker, Vikram Khurana, Amitabh Sharma, Yang-Yu Liu, Nozomu Yachie, Quan Zhong, Yun Shen, Alexandre Palagi, Adriana San-Miguel, Changyu Fan, Dawit Balcha, Amelie Dricot, Daniel M. Jordan, Jennifer M. Walsh, Akash A. Shah, Xinping Yang, Ani Stoyanova, Alex Leighton, Michael A. Calderwood, Yves Jacob, Michael E. Cusick, Kourosh Salehi-Ashtiani, Luke J. Whitesell, Shamil Sunyaev, Bonnie Berger, Albert-László Barabási, Benoit Charloteaux, David E. Hill, Tong Hao, Frederick P. Roth, Yu Xia, Albertha J.M. Walhout, Susan Lindquist, Marc Vidal

Cell. Author manuscript; available in PMC 2016 Apr 23.

Published in final edited form as: Cell. 2015 Apr 23; 161(3): 647–660. doi: 10.1016/j.cell.2015.04.013

PMCID:: PMC4441215

Abstract Article PDF–1.2M

Select item 716998311.

A reference map of the human binary protein interactome

Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood

Nature. Author manuscript; available in PMC 2020 Oct 8.

Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x

PMCID:: PMC7169983

Abstract Article PDF–5.4M

Select item 816503012.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011