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Select item 107075171.

Expanding Genotype–Phenotype Correlation of CLCNKA and CLCNKB Variants Linked to Hearing Loss

Yejin Yun, Sang Soo Park, Soyoung Lee, Heeyoung Seok, Seongyeol Park, Sang-Yeon Lee

Int J Mol Sci. 2023 Dec; 24(23): 17077. Published online 2023 Dec 3. doi: 10.3390/ijms242317077

PMCID:: PMC10707517

Abstract Article PDF–4.5M

Select item 104641402.

Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions

Nikolai Tschernoster, Florian Erger, Stefan Kohl, Björn Reusch, Andrea Wenzel, Stephen Walsh, Holger Thiele, Christian Becker, Marek Franitza, Malte P. Bartram, Martin Kömhoff, Lena Schumacher, Christian Kukat, Tatiana Borodina, Claudia Quedenau, Peter Nürnberg, Markus M Rinschen, Jan H. Driller, Bjørn P. Pedersen, Karl P. Schlingmann, Bruno Hüttel, Detlef Bockenhauer, Bodo Beck, Janine Altmüller

Genome Med. 2023; 15: 62. Published online 2023 Aug 23. doi: 10.1186/s13073-023-01215-1

PMCID:: PMC10464140

Abstract Article PDF–2.4M

Select item 95442173.

A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis

Qianying Zhao, Qinqin Xiang, Yu Tan, Xiao Xiao, Hanbing Xie, He Wang, Mei Yang, Shanling Liu

Mol Genet Genomic Med. 2022 Oct; 10(10): e2027. Published online 2022 Aug 1. doi: 10.1002/mgg3.2027

PMCID:: PMC9544217

Abstract Article PDF–1.0M

Select item 88421654.

CFTR interactome mapping using the mammalian membrane two‐hybrid high‐throughput screening system

Sang Hyun Lim, Jamie Snider, Liron Birimberg‐Schwartz, Wan Ip, Joana C Serralha, Hugo M Botelho, Miquéias Lopes‐Pacheco, Madalena C Pinto, Mohamed Taha Moutaoufik, Mara Zilocchi, Onofrio Laselva, Mohsen Esmaeili, Max Kotlyar, Anna Lyakisheva, Priscilla Tang, Lucía López Vázquez, Indira Akula, Farzaneh Aboualizadeh, Victoria Wong, Ingrid Grozavu, Teuta Opacak‐Bernardi, Zhong Yao, Meg Mendoza, Mohan Babu, Igor Jurisica, Tanja Gonska, Christine E Bear, Margarida D Amaral, Igor Stagljar

Mol Syst Biol. 2022 Feb; 18(2): e10629. Published online 2022 Feb 14. doi: 10.15252/msb.202110629

PMCID:: PMC8842165

Abstract Article PDF–3.0M

Select item 79994235.

Simultaneous Homozygous Mutations in SLC12A3 and CLCNKB in an Inbred Chinese Pedigree

Lijun Mou, Fengfen Wu

Genes (Basel) 2021 Mar; 12(3): 369. Published online 2021 Mar 5. doi: 10.3390/genes12030369

PMCID:: PMC7999423

Abstract Article PDF–2.1M

Select item 66930936.

A novel CLCNKB mutation in a Chinese girl with classic Bartter syndrome: a case report

Binlu Zhu, Hong Jiang, Meiling Cao, Xueqi Zhao, Hongkun Jiang

BMC Med Genet. 2019; 20: 137. Published online 2019 Aug 13. doi: 10.1186/s12881-019-0869-9

PMCID:: PMC6693093

Abstract Article PDF–1.7M

Select item 55561497.

Functional severity of CLCNKB mutations correlates with phenotypes in patients with classic Bartter's syndrome

Chih‐Jen Cheng, Yi‐Fen Lo, Jen‐Chi Chen, Chou‐Long Huang, Shih‐Hua Lin

J Physiol. 2017 Aug 15; 595(16): 5573–5586. Published online 2017 Jun 27. doi: 10.1113/JP274344

PMCID:: PMC5556149

Abstract Article PDF–1.1M

Select item 47125798.

Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome

Jae Wook Lee, Jeonghwan Lee, Nam Ju Heo, Hae Il Cheong, Jin Suk Han

J Korean Med Sci. 2016 Jan; 31(1): 47–54. Published online 2015 Dec 24. doi: 10.3346/jkms.2016.31.1.47

Correction in:: J Korean Med Sci. 2016 May; 31(5): 827.

PMCID:: PMC4712579

Abstract Article PDF–396K

Select item 46832639.

Carboxyl-terminal Truncations of ClC-Kb Abolish Channel Activation by Barttin Via Modified Common Gating and Trafficking

Gabriel Stölting, Stefanie Bungert-Plümke, Arne Franzen, Christoph Fahlke

J Biol Chem. 2015 Dec 18; 290(51): 30406–30416. Published online 2015 Oct 9. doi: 10.1074/jbc.M115.675827

PMCID:: PMC4683263

Abstract Article PDF–1.4M

Select item 451312910.

Tryptophan Scanning Mutagenesis Identifies the Molecular Determinants of Distinct Barttin Functions

Daniel Wojciechowski, Martin Fischer, Christoph Fahlke

J Biol Chem. 2015 Jul 24; 290(30): 18732–18743. Published online 2015 Jun 10. doi: 10.1074/jbc.M114.625376

PMCID:: PMC4513129

Abstract Article PDF–2.2M

Select item 449807611.

Human CLC-K Channels Require Palmitoylation of Their Accessory Subunit Barttin to Be Functional

Kim Vanessa Steinke, Nataliya Gorinski, Daniel Wojciechowski, Vladimir Todorov, Daria Guseva, Evgeni Ponimaskin, Christoph Fahlke, Martin Fischer

J Biol Chem. 2015 Jul 10; 290(28): 17390–17400. Published online 2015 May 26. doi: 10.1074/jbc.M114.631705

PMCID:: PMC4498076

Abstract Article PDF–1.5M

Select item 384520512.

CLCNKB-T481S and Essential Hypertension in a Ghanaian Population

Saba Sile, Digna R Velez, Niloufar B. Gillani, Tinatin Narsia, Jason H. Moore, Alfred L. George, Jr, Carlos G Vanoye, Scott M Williams

J Hypertens. Author manuscript; available in PMC 2013 Dec 2.

Published in final edited form as: J Hypertens. 2009 Feb; 27(2): 298–304. doi: 10.1097/hjh.0b013e3283140c9e

PMCID:: PMC3845205

Abstract Article PDF–666K

Select item 360452713.

Gitelman or Bartter type 3 syndrome? A case of distal convoluted tubulopathy caused by CLCNKB gene mutation

António José Cruz, Alexandra Castro

BMJ Case Rep. 2013; 2013: bcr2012007929. Published online 2013 Jan 22. doi: 10.1136/bcr-2012-007929

PMCID:: PMC3604527

Abstract Article PDF–133K

Select item 317805914.

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 294516815.

Variation at the NFATC2 Locus Increases the Risk of Thiazolidinedione-Induced Edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) Study

Swneke D. Bailey, Changchun Xie, Ron Do, Alexandre Montpetit, Rafael Diaz, Viswanathan Mohan, Bernard Keavney, Salim Yusuf, Hertzel C. Gerstein, James C. Engert, Sonia Anand, on behalf of the DREAM investigators

Diabetes Care. 2010 Oct; 33(10): 2250–2253. Published online 2010 Jul 13. doi: 10.2337/dc10-0452

PMCID:: PMC2945168

Abstract Article PDF–153K

Select item 293114616.

A regulatory calcium-binding site at the subunit interface of CLC-K kidney chloride channels

Antonella Gradogna, Elena Babini, Alessandra Picollo, Michael Pusch

J Gen Physiol. 2010 Sep; 136(3): 311–323. doi: 10.1085/jgp.201010455

PMCID:: PMC2931146

Abstract Article PDF–3.2M

Select item 286275617.

Haplotype Diversity in Four Genes (CLCNKA, CLCNKB, BSND, NEDD4L) Involved in Renal Salt Reabsorption

Saba Sile, Digna R. Velez, Niloufar B. Gillani, Charles R. Alexander, Alfred L. George, Jr., Scott M. Williams

Hum Hered. 2007 Oct; 65(1): 33–46. Published online 2007 Jul 25. doi: 10.1159/000106060

PMCID:: PMC2862756

Abstract Article PDF–421K

Select item 282576018.

Allelic-Based Gene-Gene Interaction Associated With Quantitative Traits

Jeesun Jung, Bin Sun, Deukwoo Kwon, Daniel L. Koller, Tatiana M. Foroud

Genet Epidemiol. Author manuscript; available in PMC 2010 Feb 22.

Published in final edited form as: Genet Epidemiol. 2009 May; 33(4): 332–343. doi: 10.1002/gepi.20385

PMCID:: PMC2825760

Abstract Article PDF–1.9M

Select item 277583219.

Gene-centric Association Signals for Lipids and Apolipoproteins Identified via the HumanCVD BeadChip

Philippa J. Talmud, Fotios Drenos, Sonia Shah, Tina Shah, Jutta Palmen, Claudio Verzilli, Tom R. Gaunt, Jacky Pallas, Ruth Lovering, Kawah Li, Juan Pablo Casas, Reecha Sofat, Meena Kumari, Santiago Rodriguez, Toby Johnson, Stephen J. Newhouse, Anna Dominiczak, Nilesh J. Samani, Mark Caulfield, Peter Sever, Alice Stanton, Denis C. Shields, on behalf of the ASCOT investigators, Sandosh Padmanabhan, Olle Melander, Claire Hastie, Christian Delles, on behalf of the NORDIL investigators, Shah Ebrahim, Michael G. Marmot, George Davey Smith, Debbie A. Lawlor, Patricia B. Munroe, for the BRIGHT Consortium, Ian N. Day, Mika Kivimaki, John Whittaker, Steve E. Humphries, Aroon D. Hingorani

Am J Hum Genet. 2009 Nov 13; 85(5): 628–642. doi: 10.1016/j.ajhg.2009.10.014

PMCID:: PMC2775832

Abstract Article PDF–2.8M

Select item 261572020.

Disease-Causing Dysfunctions of Barttin in Bartter Syndrome Type IV

Audrey G.H. Janssen, Ute Scholl, Constanze Domeyer, Doreen Nothmann, Ariane Leinenweber, Christoph Fahlke

J Am Soc Nephrol. 2009 Jan; 20(1): 145–153. doi: 10.1681/ASN.2008010102

PMCID:: PMC2615720

Abstract Article

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