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Select item 90927931.

The correlation between promoter hypermethylation of VDR, CLDN, and CasR genes and recurrent stone formation

Fatemeh Khatami, Alireza Gorji, Mahdi Khoshchehreh, Rahil Mashhadi, Mahin Ahmadi Pishkuhi, Alireza Khajavi, Alireza Namazi Shabestari, Seyed Mohammad Kazem Aghamir

BMC Med Genomics. 2022; 15: 109. Published online 2022 May 11. doi: 10.1186/s12920-022-01265-1

PMCID:: PMC9092793

Abstract Article PDF–1.9M

Select item 71699832.

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 67696963.

Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant

Tomohiro Kitano, Shin-ichiro Kitajiri, Shin-ya Nishio, Shin-ichi Usami

Int J Mol Sci. 2019 Sep; 20(18): 4579. Published online 2019 Sep 16. doi: 10.3390/ijms20184579

PMCID:: PMC6769696

Abstract Article PDF–2.2M

Select item 62188164.

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 58190315.

Mutations in OTOF, CLDN14 & SLC26A4 genes as major causes of hearing impairment in Dhadkai village, Jammu & Kashmir, India

Nishtha Pandey, Tabassum Rashid, Rajeev Jalvi, Meenakshi Sharma, Raghunath Rangasayee, Khurshid Iqbal Andrabi, Anuranjan Anand

Indian J Med Res. 2017 Oct; 146(4): 489–497. doi: 10.4103/ijmr.IJMR_635_15

PMCID:: PMC5819031

Abstract Article PDF–1.2M

Select item 52728056.

Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome

Rabia Faridi, Atteeq U. Rehman, Robert J. Morell, Penelope L. Friedman, Leigh Demain, Sana Zahra, Asma Ali Khan, Dalia Tohlob, Muhammad Zaman Assir, Glenda Beaman, Shaheen N. Khan, William G. Newman, Sheikh Riazuddin, Thomas B. Friedman

Clin Genet. Author manuscript; available in PMC 2018 Feb 1.

Published in final edited form as: Clin Genet. 2017 Feb; 91(2): 328–332. Published online 2016 Nov 16. doi: 10.1111/cge.12867

PMCID:: PMC5272805

Abstract Article PDF–583K

Select item 52152847.

A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect

Justin A. Pater, Tammy Benteau, Anne Griffin, Cindy Penney, Susan G. Stanton, Sarah Predham, Bernadine Kielley, Jessica Squires, Jiayi Zhou, Quan Li, Nelly Abdelfatah, Darren D. O’Rielly, Terry-Lynn Young

Hum Genet. 2017; 136(1): 107–118. Published online 2016 Nov 12. doi: 10.1007/s00439-016-1746-7

PMCID:: PMC5215284

Abstract Article PDF–5.4M

Select item 48487628.

Pooled‐matrix protein interaction screens using Barcode Fusion Genetics

Nozomu Yachie, Evangelia Petsalaki, Joseph C Mellor, Jochen Weile, Yves Jacob, Marta Verby, Sedide B Ozturk, Siyang Li, Atina G Cote, Roberto Mosca, Jennifer J Knapp, Minjeong Ko, Analyn Yu, Marinella Gebbia, Nidhi Sahni, Song Yi, Tanya Tyagi, Dayag Sheykhkarimli, Jonathan F Roth, Cassandra Wong, Louai Musa, Jamie Snider, Yi‐Chun Liu, Haiyuan Yu, Pascal Braun, Igor Stagljar, Tong Hao, Michael A Calderwood, Laurence Pelletier, Patrick Aloy, David E Hill, Marc Vidal, Frederick P Roth

Mol Syst Biol. 2016 Apr; 12(4): 863. Published online 2016 Apr 23. doi: 10.15252/msb.20156660

PMCID:: PMC4848762

Abstract Article PDF–2.8M

Select item 47407669.

A Common Variant in CLDN14 is Associated with Primary Biliary Cirrhosis and Bone Mineral Density

Ruqi Tang, Yiran Wei, Zhiqiang Li, Haoyan Chen, Qi Miao, Zhaolian Bian, Haiyan Zhang, Qixia Wang, Zhaoyue Wang, Min Lian, Fan Yang, Xiang Jiang, Yue Yang, Enling Li, Michael F. Seldin, M. Eric Gershwin, Wilson Liao, Yongyong Shi, Xiong Ma

Sci Rep. 2016; 6: 19877. Published online 2016 Feb 4. doi: 10.1038/srep19877

PMCID:: PMC4740766

Abstract Article PDF–787K

Select item 448096810.

Polymorphisms in CaSR and CLDN14 Genes Associated with Increased Risk of Kidney Stone Disease in Patients from the Eastern Part of India

Manalee Guha, Biswabandhu Bankura, Sudakshina Ghosh, Arup Kumar Pattanayak, Saurabh Ghosh, Dilip Kumar Pal, Anurag Puri, Anup Kumar Kundu, Madhusudan Das

PLoS One. 2015; 10(6): e0130790. Published online 2015 Jun 24. doi: 10.1371/journal.pone.0130790

PMCID:: PMC4480968

Abstract Article PDF–359K

Select item 394352111.

Multistage genome-wide association meta-analyses identified two new loci for bone mineral density

Lei Zhang, Hyung Jin Choi, Karol Estrada, Paul J. Leo, Jian Li, Yu-Fang Pei, Yinping Zhang, Yong Lin, Hui Shen, Yao-Zhong Liu, Yongjun Liu, Yingchun Zhao, Ji-Gang Zhang, Qing Tian, Yu-ping Wang, Yingying Han, Shu Ran, Rong Hai, Xue-Zhen Zhu, Shuyan Wu, Han Yan, Xiaogang Liu, Tie-Lin Yang, Yan Guo, Feng Zhang, Yan-fang Guo, Yuan Chen, Xiangding Chen, Lijun Tan, Lishu Zhang, Fei-Yan Deng, Hongyi Deng, Fernando Rivadeneira, Emma L Duncan, Jong Young Lee, Bok Ghee Han, Nam H. Cho, Geoffrey C. Nicholson, Eugene McCloskey, Richard Eastell, Richard L. Prince, John A. Eisman, Graeme Jones, Ian R. Reid, Philip N. Sambrook, Elaine M. Dennison, Patrick Danoy, Laura M. Yerges-Armstrong, Elizabeth A. Streeten, Tian Hu, Shuanglin Xiang, Christopher J. Papasian, Matthew A. Brown, Chan Soo Shin, André G. Uitterlinden, Hong-Wen Deng

Hum Mol Genet. 2014 Apr 1; 23(7): 1923–1933. Published online 2013 Nov 17. doi: 10.1093/hmg/ddt575

PMCID:: PMC3943521

Abstract Article PDF–415K

Select item 393717712.

The distinct expression patterns of claudin-10, -14, -17 and E-cadherin between adjacent non-neoplastic tissues and gastric cancer tissues

Man Gao, Wei Li, Haiming Wang, Guanjun Wang

Diagn Pathol. 2013; 8: 205. Published online 2013 Dec 10. doi: 10.1186/1746-1596-8-205

PMCID:: PMC3937177

Abstract Article PDF–992K

Select item 375330013.

Frequency of Rare Allelic Variation in Candidate Genes among Individuals with Low and High Urinary Calcium Excretion

Hakan R. Toka, Giulio Genovese, David B. Mount, Martin R. Pollak, Gary C. Curhan

PLoS One. 2013; 8(8): e71885. Published online 2013 Aug 26. doi: 10.1371/journal.pone.0071885

PMCID:: PMC3753300

Abstract Article PDF–604K

Select item 359611714.

Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population

Zil-e-Huma Bashir, Noreen Latief, Inna A. Belyantseva, Farheena Iqbal, S. Amer Riazuddin, Shaheen N. Khan, Thomas B. Friedman, Sheikh Riazuddin, Saima Riazuddin

J Hum Genet. Author manuscript; available in PMC 2013 Aug 1.

Published in final edited form as: J Hum Genet. 2013 Feb; 58(2): 102–108. Published online 2012 Dec 13. doi: 10.1038/jhg.2012.143

Correction in:: volume 58 on page 641

PMCID:: PMC3596117

Abstract Article PDF–1.3M

Select item 356826515.

The Impact of Ancestry and Common Genetic Variants on QT Interval in African Americans

J. Gustav Smith, Christy L. Avery, Daniel S. Evans, Michael A. Nalls, Yan A. Meng, Erin N. Smith, Cameron Palmer, Toshiko Tanaka, Reena Mehra, Anne M. Butler, Taylor Young, Sarah G. Buxbaum, Kathleen F. Kerr, Gerald S. Berenson, Renate B. Schnabel, Guo Li, Patrick T. Ellinor, Jared W. Magnani, Wei Chen, Joshua C. Bis, J. David Curb, Wen-Chi Hsueh, Jerome I. Rotter, Yongmei Liu, Anne B. Newman, Marian C. Limacher, Kari E. North, Alexander P. Reiner, P. Miguel Quibrera, Nicholas J. Schork, Andrew B. Singleton, Bruce M. Psaty, Elsayed Z. Soliman, Allen J. Solomon, Sathanur R. Srinivasan, Alvaro Alonso, Robert Wallace, Susan Redline, Zhu-Ming Zhang, Wendy S. Post, Alan B. Zonderman, Herman A. Taylor, Sarah S. Murray, Luigi Ferrucci, Dan E. Arking, Michele K. Evans, Ervin R. Fox, Nona Sotoodehnia, Susan R. Heckbert, Eric A. Whitsel, Christopher Newton-Cheh

Circ Cardiovasc Genet. Author manuscript; available in PMC 2013 Dec 1.

Published in final edited form as: Circ Cardiovasc Genet. 2012 Dec; 5(6): 647–655. Published online 2012 Nov 19. doi: 10.1161/CIRCGENETICS.112.962787

PMCID:: PMC3568265

Abstract Article PDF–523K

Select item 355155116.

Human Claudin-8 and -14 Are Receptors Capable of Conveying the Cytotoxic Effects of Clostridium perfringens Enterotoxin

Archana Shrestha, Bruce A. McClane

mBio. 2013 Jan-Feb; 4(1): e00594-12. Published online 2013 Jan 15. doi: 10.1128/mBio.00594-12

PMCID:: PMC3551551

Abstract Article PDF–1.8M

Select item 327611417.

Novel CLDN14 Mutations in Pakistani Families With Autosomal Recessive Non-Syndromic Hearing Loss

Kwanghyuk Lee, Muhammad Ansar, Paula B. Andrade, Bushra Khan, Regie Lyn P. Santos-Cortez, Wasim Ahmad, Suzanne M. Leal

Am J Med Genet A. Author manuscript; available in PMC 2012 Feb 9.

Published in final edited form as: Am J Med Genet A. 2012 Feb; 158A(2): 315–321. Published online 2012 Jan 13. doi: 10.1002/ajmg.a.34407

PMCID:: PMC3276114

Abstract Article PDF–1.4M

Select item 317805918.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 299207419.

Mutations in CLDN14 are associated with different hearing thresholds

Rasheeda Bashir, Amara Fatima, Sadaf Naz

J Hum Genet. Author manuscript; available in PMC 2011 May 1.

Published in final edited form as: J Hum Genet. 2010 Nov; 55(11): 767–770. Published online 2010 Sep 2. doi: 10.1038/jhg.2010.104

PMCID:: PMC2992074

Abstract Article PDF–552K

Select item 295285720.

Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters

Hans-Jörg Warnatz, Robert Querfurth, Anna Guerasimova, Xi Cheng, Stefan A. Haas, Andrew L. Hufton, Thomas Manke, Dominique Vanhecke, Wilfried Nietfeld, Martin Vingron, Michal Janitz, Hans Lehrach, Marie-Laure Yaspo

Nucleic Acids Res. 2010 Oct; 38(18): 6112–6123. Published online 2010 May 21. doi: 10.1093/nar/gkq402

PMCID:: PMC2952857

Abstract Article PDF–4.0M

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