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Items: 1 to 20 of 30

1.
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
AbstractArticlePDF–4.5M
2.
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
AbstractArticlePDF–2.4M
3.
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
AbstractArticlePDF–1.0M
4.
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
AbstractArticlePDF–3.0M
5.
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
AbstractArticlePDF–2.1M
6.
Role of PKC in the Regulation of the Human Kidney Chloride Channel ClC-Ka
Andrea Gerbino, Roberta De Zio, Daniela Russo, Luigi Milella, Serena Milano, Giuseppe Procino, Michael Pusch, Maria Svelto, Monica Carmosino
Sci Rep. 2020; 10: 10268. Published online 2020 Jun 24. doi: 10.1038/s41598-020-67219-8
Correction in:
Sci Rep. 2020; 10: 16469.
PMCID:
PMC7314819
AbstractArticlePDF–3.1M
7.
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
8.
Systematic bromodomain protein screens identify homologous recombination and R-loop suppression pathways involved in genome integrity
Jae Jin Kim, Seo Yun Lee, Fade Gong, Anna M. Battenhouse, Daniel R. Boutz, Aarti Bashyal, Samantha T. Refvik, Cheng-Ming Chiang, Blerta Xhemalce, Tanya T. Paull, Jennifer S. Brodbelt, Edward M. Marcotte, Kyle M. Miller
Genes Dev. 2019 Dec 1; 33(23-24): 1751–1774. doi: 10.1101/gad.331231.119
PMCID:
PMC6942044
AbstractArticlePDF–10M
9.
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
AbstractArticlePDF–1.7M
10.
Activation of renal ClC-K chloride channels depends on an intact N terminus of their accessory subunit barttin
Daniel Wojciechowski, Stefan Thiemann, Christina Schaal, Alina Rahtz, Jeanne de la Roche, Birgit Begemann, Toni Becher, Martin Fischer
J Biol Chem. 2018 Jun 1; 293(22): 8626–8637. Published online 2018 Apr 19. doi: 10.1074/jbc.RA117.000860
PMCID:
PMC5986197
AbstractArticlePDF–2.6M
11.
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
AbstractArticlePDF–1.1M
12.
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
AbstractArticlePDF–396K
13.
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
AbstractArticlePDF–1.4M
14.
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
AbstractArticlePDF–2.2M
15.
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
AbstractArticlePDF–1.5M
16.
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
AbstractArticlePDF–666K
17.
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
AbstractArticlePDF–133K
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.
Loss-of-function DNA sequence variant in the CLCNKA chloride channel implicates the cardio-renal axis in interindividual heart failure risk variation
Thomas P. Cappola, Scot J. Matkovich, Wei Wang, Derek van Booven, Mingyao Li, Xuexia Wang, Liming Qu, Nancy K. Sweitzer, James C. Fang, Muredach P. Reilly, Hakon Hakonarson, Jeanne M. Nerbonne, Gerald W. Dorn, II
Proc Natl Acad Sci U S A. 2011 Feb 8; 108(6): 2456–2461. Published online 2011 Jan 19. doi: 10.1073/pnas.1017494108
PMCID:
PMC3038744
AbstractArticlePDF–791K
20.
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
AbstractArticlePDF–153K

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