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Items: 1 to 20 of 27

1.
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
AbstractArticlePDF–1.9M
2.
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
AbstractArticlePDF–5.4M
3.
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
AbstractArticlePDF–2.2M
4.
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
AbstractArticle
5.
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
AbstractArticlePDF–1.2M
6.
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
AbstractArticlePDF–583K
7.
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
AbstractArticlePDF–5.4M
8.
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
AbstractArticlePDF–2.8M
9.
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
AbstractArticlePDF–787K
10.
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
AbstractArticlePDF–359K
11.
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
AbstractArticlePDF–415K
12.
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
AbstractArticlePDF–992K
13.
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
AbstractArticlePDF–604K
14.
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
AbstractArticlePDF–1.3M
15.
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
AbstractArticlePDF–523K
16.
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
AbstractArticlePDF–1.8M
17.
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
AbstractArticlePDF–1.4M
18.
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
AbstractArticlePDF–1.0M
19.
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
AbstractArticlePDF–552K
20.
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
AbstractArticlePDF–4.0M

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