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Select item 72068161.

A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family

Sher Alam Khan, Muhammad Adnan Khan, Nazif Muhammad, Hina Bashir, Niamat Khan, Noor Muhammad, Rüstem Yilmaz, Saadullah Khan, Naveed Wasif

BMC Med Genet. 2020; 21: 97. Published online 2020 May 7. doi: 10.1186/s12881-020-01038-6

PMCID:: PMC7206816

Article PDF–1001K

Select item 52150842.

Reduced Protein Expression of the Na⁺/Ca²⁺+K⁺-Exchanger (SLC24A4) in Apical Plasma Membranes of Maturation Ameloblasts of Fluorotic Mice

A. L. J. J. Bronckers, R. Jalali, J. Lytton

Calcif Tissue Int. 2017; 100(1): 80–86. Published online 2016 Oct 17. doi: 10.1007/s00223-016-0197-4

PMCID:: PMC5215084

Article PDF–2.1M

Select item 79490853.

Calmodulin binds and modulates K⁺-dependent Na⁺/Ca²⁺-exchanger isoform 4, NCKX4

Stephanie Thibodeau, Weidong Yang, Sunita Sharma, Jonathan Lytton

J Biol Chem. 2021 Jan-Jun; 296: 100092. Published online 2020 Nov 23. doi: 10.1074/jbc.RA120.015037

PMCID:: PMC7949085

Article PDF–3.6M

Select item 74857774.

Association between brown eye colour in rs12913832:GG individuals and SNPs in TYR, TYRP1, and SLC24A4

Olivia S. Meyer, Maja M. B. Lunn, Sara L. Garcia, Anne B. Kjærbye, Niels Morling, Claus Børsting, Jeppe D. Andersen

PLoS One. 2020; 15(9): e0239131. Published online 2020 Sep 11. doi: 10.1371/journal.pone.0239131

PMCID:: PMC7485777

Article PDF–804K

Select item 49332275.

A Functional Study of Mutations in K⁺-dependent Na⁺-Ca²⁺ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism

Ali H. Jalloul, Tatiana P. Rogasevskaia, Robert T. Szerencsei, Paul P. M. Schnetkamp

J Biol Chem. 2016 Jun 17; 291(25): 13113–13123. Published online 2016 Apr 25. doi: 10.1074/jbc.M116.728824

PMCID:: PMC4933227

Article PDF–3.5M

Select item 35672746.

Identification of Mutations in SLC24A4, Encoding a Potassium-Dependent Sodium/Calcium Exchanger, as a Cause of Amelogenesis Imperfecta

David A. Parry, James A. Poulter, Clare V. Logan, Steven J. Brookes, Hussain Jafri, Christopher H. Ferguson, Babra M. Anwari, Yasmin Rashid, Haiqing Zhao, Colin A. Johnson, Chris F. Inglehearn, Alan J. Mighell

Am J Hum Genet. 2013 Feb 7; 92(2): 307–312. doi: 10.1016/j.ajhg.2013.01.003

PMCID:: PMC3567274

Article PDF–594K

Select item 30126637.

Reverse mode Na⁺/Ca²⁺exchange mediated by STIM1 contributes to Ca²⁺influx in airway smooth muscle following agonist stimulation

Bo Liu, Samantha E Peel, Jane Fox, Ian P Hall

Respir Res. 2010; 11(1): 168. Published online 2010 Dec 2. doi: 10.1186/1465-9921-11-168

PMCID:: PMC3012663

Article PDF–860K

Select item 43443678.

Association of Brain DNA Methylation in SORL1, ABCA7, HLA-DRB5, SLC24A4, and BIN1 With Pathological Diagnosis of Alzheimer Disease

Lei Yu, Lori B. Chibnik, Gyan P. Srivastava, Nathalie Pochet, Jingyun Yang, Jishu Xu, James Kozubek, Nikolaus Obholzer, Sue E. Leurgans, Julie A. Schneider, Alexander Meissner, Philip L. De Jager, David A. Bennett

JAMA Neurol. Author manuscript; available in PMC 2016 Jan 1.

Published in final edited form as: JAMA Neurol. 2015 Jan 1; 72(1): 15–24. doi: 10.1001/jamaneurol.2014.3049

PMCID:: PMC4344367

Article PDF–1.3M

Select item 41075429.

STIM1 and SLC24A4 Are Critical for Enamel Maturation

S. Wang, M. Choi, A.S. Richardson, B.M. Reid, F. Seymen, M. Yildirim, E. Tuna, K. Gençay, J.P. Simmer, J.C. Hu

J Dent Res. 2014 Jul; 93(7 Suppl): 94S–100S. doi: 10.1177/0022034514527971

PMCID:: PMC4107542

Article PDF–1.1M

Select item 270210010.

A Genome-Wide Association Study of Hypertension and Blood Pressure in African Americans

Adebowale Adeyemo, Norman Gerry, Guanjie Chen, Alan Herbert, Ayo Doumatey, Hanxia Huang, Jie Zhou, Kerrie Lashley, Yuanxiu Chen, Michael Christman, Charles Rotimi

PLoS Genet. 2009 Jul; 5(7): e1000564. Published online 2009 Jul 17. doi: 10.1371/journal.pgen.1000564

PMCID:: PMC2702100

Article PDF–485K

Select item 236744911.

A Genome-Wide Association Study Identifies Novel Alleles Associated with Hair Color and Skin Pigmentation

Jiali Han, Peter Kraft, Hongmei Nan, Qun Guo, Constance Chen, Abrar Qureshi, Susan E. Hankinson, Frank B. Hu, David L. Duffy, Zhen Zhen Zhao, Nicholas G. Martin, Grant W. Montgomery, Nicholas K. Hayward, Gilles Thomas, Robert N. Hoover, Stephen Chanock, David J. Hunter

PLoS Genet. 2008 May; 4(5): e1000074. Published online 2008 May 16. doi: 10.1371/journal.pgen.1000074

PMCID:: PMC2367449

Article PDF–240K

Select item 367205912.

Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma

David L. Duffy, Z. Z. Zhao, Richard A. Sturm, Nicholas K. Hayward, Nicholas G. Martin, Grant W. Montgomery

J Invest Dermatol. Author manuscript; available in PMC 2013 Jun 4.

Published in final edited form as: J Invest Dermatol. 2010 Feb; 130(2): 520–528. Published online 2009 Aug 27. doi: 10.1038/jid.2009.258

PMCID:: PMC3672059

Article PDF–607K

Select item 369097113.

Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans

Mingfeng Zhang, Fengju Song, Liming Liang, Hongmei Nan, Jiangwen Zhang, Hongliang Liu, Li-E. Wang, Qingyi Wei, Jeffrey E. Lee, Christopher I. Amos, Peter Kraft, Abrar A. Qureshi, Jiali Han

Hum Mol Genet. 2013 Jul 15; 22(14): 2948–2959. Published online 2013 Apr 1. doi: 10.1093/hmg/ddt142

PMCID:: PMC3690971

Article PDF–208K

Select item 320295914.

Genome-Wide Association Scan for Survival on Dialysis in African-Americans with Type 2 Diabetes

Mariana Murea, Lingyi Lu, Lijun Ma, Pamela J. Hicks, Jasmin Divers, Caitrin W. McDonough, Carl D. Langefeld, Donald W. Bowden, Barry I. Freedman

Am J Nephrol. 2011 Jun; 33(6): 502–509. Published online 2011 May 5. doi: 10.1159/000327985

PMCID:: PMC3202959

Article PDF–425K

Select item 289181115.

Web-Based, Participant-Driven Studies Yield Novel Genetic Associations for Common Traits

Nicholas Eriksson, J. Michael Macpherson, Joyce Y. Tung, Lawrence S. Hon, Brian Naughton, Serge Saxonov, Linda Avey, Anne Wojcicki, Itsik Pe'er, Joanna Mountain

PLoS Genet. 2010 Jun; 6(6): e1000993. Published online 2010 Jun 24. doi: 10.1371/journal.pgen.1000993

PMCID:: PMC2891811

Article PDF–2.1M

Select item 389625916.

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer’s disease

Jean-Charles Lambert, Carla A Ibrahim-Verbaas, Denise Harold, Adam C Naj, Rebecca Sims, Céline Bellenguez, Gyungah Jun, Anita L DeStefano, Joshua C Bis, Gary W Beecham, Benjamin Grenier-Boley, Giancarlo Russo, Tricia A Thornton-Wells, Nicola Jones, Albert V Smith, Vincent Chouraki, Charlene Thomas, M Arfan Ikram, Diana Zelenika, Badri N Vardarajan, Yoichiro Kamatani, Chiao-Feng Lin, Amy Gerrish, Helena Schmidt, Brian Kunkle, Melanie L Dunstan, Agustin Ruiz, Marie-Thérèse Bihoreau, Seung-Hoan Choi, Christiane Reitz, Florence Pasquier, Paul Hollingworth, Alfredo Ramirez, Olivier Hanon, Annette L Fitzpatrick, Joseph D Buxbaum, Dominique Campion, Paul K Crane, Clinton Baldwin, Tim Becker, Vilmundur Gudnason, Carlos Cruchaga, David Craig, Najaf Amin, Claudine Berr, Oscar L Lopez, Philip L De Jager, Vincent Deramecourt, Janet A Johnston, Denis Evans, Simon Lovestone, Luc Letenneur, Francisco J Morón, David C Rubinsztein, Gudny Eiriksdottir, Kristel Sleegers, Alison M Goate, Nathalie Fiévet, Matthew J Huentelman, Michael Gill, Kristelle Brown, M Ilyas Kamboh, Lina Keller, Pascale Barberger-Gateau, Bernadette McGuinness, Eric B Larson, Robert Green, Amanda J Myers, Carole Dufouil, Stephen Todd, David Wallon, Seth Love, Ekaterina Rogaeva, John Gallacher, Peter St George-Hyslop, Jordi Clarimon, Alberto Lleo, Anthony Bayer, Debby W Tsuang, Lei Yu, Magda Tsolaki, Paola Bossù, Gianfranco Spalletta, Petroula Proitsi, John Collinge, Sandro Sorbi, Florentino Sanchez-Garcia, Nick C Fox, John Hardy, Maria Candida Deniz Naranjo, Paolo Bosco, Robert Clarke, Carol Brayne, Daniela Galimberti, Michelangelo Mancuso, Fiona Matthews, European Alzheimer’s disease Initiative (EADI), Genetic and Environmental Risk in Alzheimer’s Disease (GERAD), Alzheimer’s Disease Genetic Consortium (ADGC), Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE), Susanne Moebus, Patrizia Mecocci, Maria Del Zompo, Wolfgang Maier, Harald Hampel, Alberto Pilotto, Maria Bullido, Francesco Panza, Paolo Caffarra, Benedetta Nacmias, John R Gilbert, Manuel Mayhaus, Lars Lannfelt, Hakon Hakonarson, Sabrina Pichler, Minerva M Carrasquillo, Martin Ingelsson, Duane Beekly, Victoria Alvarez, Fanggeng Zou, Otto Valladares, Steven G Younkin, Eliecer Coto, Kara L Hamilton-Nelson, Wei Gu, Cristina Razquin, Pau Pastor, Ignacio Mateo, Michael J Owen, Kelley M Faber, Palmi V Jonsson, Onofre Combarros, Michael C O’Donovan, Laura B Cantwell, Hilkka Soininen, Deborah Blacker, Simon Mead, Thomas H Mosley, Jr, David A Bennett, Tamara B Harris, Laura Fratiglioni, Clive Holmes, Renee F A G de Bruijn, Peter Passmore, Thomas J Montine, Karolien Bettens, Jerome I Rotter, Alexis Brice, Kevin Morgan, Tatiana M Foroud, Walter A Kukull, Didier Hannequin, John F Powell, Michael A Nalls, Karen Ritchie, Kathryn L Lunetta, John S K Kauwe, Eric Boerwinkle, Matthias Riemenschneider, Mercè Boada, Mikko Hiltunen, Eden R Martin, Reinhold Schmidt, Dan Rujescu, Li-san Wang, Jean-François Dartigues, Richard Mayeux, Christophe Tzourio, Albert Hofman, Markus M Nöthen, Caroline Graff, Bruce M Psaty, Lesley Jones, Jonathan L Haines, Peter A Holmans, Mark Lathrop, Margaret A Pericak-Vance, Lenore J Launer, Lindsay A Farrer, Cornelia M van Duijn, Christine Van Broeckhoven, Valentina Moskvina, Sudha Seshadri, Julie Williams, Gerard D Schellenberg, Philippe Amouyel

Nat Genet. Author manuscript; available in PMC 2014 Jun 1.

Published in final edited form as: Nat Genet. 2013 Dec; 45(12): 1452–1458. Published online 2013 Oct 27. doi: 10.1038/ng.2802