PMC Links for Gene (Select 10686) - PMC

Select item 67238561.

In-Depth Bioinformatic Study of the CLDN16 Gene and Protein: Prediction of Subcellular Localization to Mitochondria

Erasmia Rouka, Vassilios Liakopoulos, Konstantinos I. Gourgoulianis, Chrissi Hatzoglou, Sotirios G. Zarogiannis

Medicina (Kaunas) 2019 Aug; 55(8): 409. Published online 2019 Jul 26. doi: 10.3390/medicina55080409

PMCID:: PMC6723856

Select item 63257642.

Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations

Ana Perdomo-Ramirez, Marian de Armas-Ortiz, Elena Ramos-Trujillo, Lorena Suarez-Artiles, Felix Claverie-Martin

BMC Med Genet. 2019; 20: 6. Published online 2019 Jan 8. doi: 10.1186/s12881-018-0713-7

PMCID:: PMC6325764

Abstract Article PDF–1.4M

Select item 38674153.

A novel CLDN16 mutation in a large family with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis

Asma Deeb, Salima Atia Abood, Job Simon, Hormazdiar Dastoor, Simon HS Pearce, John A Sayer

BMC Res Notes. 2013; 6: 527. Published online 2013 Dec 10. doi: 10.1186/1756-0500-6-527

PMCID:: PMC3867415

Abstract Article PDF–976K

Select item 25623704.

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC): Compound heterozygous mutation in the claudin 16 (CLDN16) gene

Geeta Hampson, Martin A Konrad, John Scoble

BMC Nephrol. 2008; 9: 12. Published online 2008 Sep 24. doi: 10.1186/1471-2369-9-12

PMCID:: PMC2562370

Abstract Article PDF–1.5M

Select item 23910305.

CLDN16 Genotype Predicts Renal Decline in Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis

Martin Konrad, Jianghui Hou, Stefanie Weber, Jörg Dötsch, Jameela A. Kari, Tomas Seeman, Eberhard Kuwertz-Bröking, Amira Peco-Antic, Velibor Tasic, Katalin Dittrich, Hammad O. Alshaya, Rodo O. von Vigier, Sabina Gallati, Daniel A. Goodenough, André Schaller

J Am Soc Nephrol. 2008 Jan; 19(1): 171–181. doi: 10.1681/ASN.2007060709

PMCID:: PMC2391030

Abstract Article

Select item 13954786.

Disease-associated mutations affect intracellular traffic and paracellular Mg²⁺ transport function of Claudin-16

P. Jaya Kausalya, Salah Amasheh, Dorothee Günzel, Henrik Wurps, Dominik Müller, Michael Fromm, Walter Hunziker

J Clin Invest. 2006 Apr 3; 116(4): 878–891. Published online 2006 Mar 9. doi: 10.1172/JCI26323

PMCID:: PMC1395478

Abstract Article PDF–7.2M

Select item 33382847.

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 11803958.

A Novel Claudin 16 Mutation Associated with Childhood Hypercalciuria Abolishes Binding to ZO-1 and Results in Lysosomal Mistargeting

Dominik Müller, P. Jaya Kausalya, Felix Claverie-Martin, Iwan C. Meij, Paul Eggert, Victor Garcia-Nieto, Walter Hunziker

Am J Hum Genet. 2003 Dec; 73(6): 1293–1301. Published online 2003 Nov 18. doi: 10.1086/380418

PMCID:: PMC1180395

Abstract Article PDF–745K

Select item 62806579.

Sex-Specific Genetic Predictors of Alzheimer’s Disease Biomarkers

Yuetiva Deming, Logan Dumitrescu, Lisa L. Barnes, Madhav Thambisetty, Brian Kunkle, Katherine A. Gifford, William S. Bush, Lori B. Chibnik, Shubhabrata Mukherjee, Philip L. De Jager, Walter Kukull, Matt Huentelman, Paul K. Crane, Susan M. Resnick, C. Dirk Keene, Thomas J. Montine, Gerard D. Schellenberg, Jonathan L. Haines, Henrik Zetterberg, Kaj Blennow, Eric B. Larson, Sterling C. Johnson, Marilyn Albert, Abhay Moghekar, Jorge L. del Aguila, Maria Victoria Fernandez, John Budde, Jason Hassenstab, Anne M. Fagan, Matthias Riemenschneider, Ronald C. Petersen, Lennart Minthon, Michael J. Chao, Vivianna M. Van Deerlin, Virginia M-Y Lee, Leslie M. Shaw, John Q. Trojanowski, Elaine R. Peskind, Gail Li, Lea K. Davis, Julia M. Sealock, Nancy J. Cox, Alzheimer’s Disease Neuroimaging Initiative (ADNI), The Alzheimer Disease Genetics Consortium (ADGC), Alison M. Goate, David A. Bennett, Julie A. Schneider, Angela L. Jefferson, Carlos Cruchaga, Timothy J. Hohman

Acta Neuropathol. Author manuscript; available in PMC 2019 Dec 1.

Published in final edited form as: Acta Neuropathol. 2018 Dec; 136(6): 857–872. Published online 2018 Jul 2. doi: 10.1007/s00401-018-1881-4

PMCID:: PMC6280657

Abstract Article PDF–820K

Select item 621881610.

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 554604111.

The RING finger- and PDZ domain-containing protein PDZRN3 controls localization of the Mg²⁺ regulator claudin-16 in renal tube epithelial cells

Kana Marunaka, Chisa Furukawa, Naoko Fujii, Toru Kimura, Takumi Furuta, Toshiyuki Matsunaga, Satoshi Endo, Hajime Hasegawa, Naohiko Anzai, Yasuhiro Yamazaki, Masahiko Yamaguchi, Akira Ikari

J Biol Chem. 2017 Aug 4; 292(31): 13034–13044. Published online 2017 Jun 16. doi: 10.1074/jbc.M117.779405

PMCID:: PMC5546041

Abstract Article PDF–4.4M

Select item 403632312.

Tight Junctional Localization of Claudin-16 Is Regulated by Syntaxin 8 in Renal Tubular Epithelial Cells

Akira Ikari, Chie Tonegawa, Ayumi Sanada, Toru Kimura, Hideki Sakai, Hisayoshi Hayashi, Hajime Hasegawa, Masahiko Yamaguchi, Yasuhiro Yamazaki, Satoshi Endo, Toshiyuki Matsunaga, Junko Sugatani

J Biol Chem. 2014 May 9; 289(19): 13112–13123. Published online 2014 Mar 21. doi: 10.1074/jbc.M113.541193

PMCID:: PMC4036323

Abstract Article PDF–4.3M

Select item 334333413.

Claudin-14 regulates renal Ca⁺⁺ transport in response to CaSR signalling via a novel microRNA pathway

Yongfeng Gong, Vijayaram Renigunta, Nina Himmerkus, Jiaqi Zhang, Aparna Renigunta, Markus Bleich, Jianghui Hou

EMBO J. 2012 Apr 18; 31(8): 1999–2012. Published online 2012 Feb 28. doi: 10.1038/emboj.2012.49

PMCID:: PMC3343334

Abstract Article PDF–2.2M

Select item 274576014.

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 464794115.

hORFeome v3.1: A resource of human open reading frames representing over 10,000 human genes

Philippe Lamesch, Ning Li, Stuart Milstein, Changyu Fan, Tong Hao, Gabor Szabo, Zhenjun Hu, Kavitha Venkatesan, Graeme Bethel, Paul Martin, Jane Rogers, Stephanie Lawlor, Stuart McLaren, Amélie Dricot, Heather Borick, Michael E. Cusick, Jean Vandenhaute, Ian Dunham, David E. Hill, Marc Vidal

Genomics. 2007 Mar; 89(3): 307–315. doi: 10.1016/j.ygeno.2006.11.012

PMCID:: PMC4647941

Abstract Article

Select item 319082616.

Interactions of Pathological Hallmark Proteins: TUBULIN POLYMERIZATION PROMOTING PROTEIN/p25, β-AMYLOID, AND α-SYNUCLEIN

Judit Oláh, Orsolya Vincze, Dezső Virók, Dóra Simon, Zsolt Bozsó, Natália Tőkési, István Horváth, Emma Hlavanda, János Kovács, Anna Magyar, Mária Szűcs, Ferenc Orosz, Botond Penke, Judit Ovádi

J Biol Chem. 2011 Sep 30; 286(39): 34088–34100. Published online 2011 Aug 8. doi: 10.1074/jbc.M111.243907