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Items: 1 to 20 of 24

1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
AbstractArticlePDF–3.2M
13.
A Cytoplasmic Domain Mutation in ClC-Kb Affects Long-Distance Communication Across the Membrane
Gilbert Q. Martinez, Merritt Maduke
PLoS One. 2008; 3(7): e2746. Published online 2008 Jul 23. doi: 10.1371/journal.pone.0002746
PMCID:
PMC2447174
AbstractArticlePDF–726K
14.
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
15.
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
AbstractArticlePDF–1.9M
16.
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
AbstractArticlePDF–421K
17.
Barttin modulates trafficking and function of ClC-K channels
Ute Scholl, Simon Hebeisen, Audrey G. H. Janssen, Gerhard Müller-Newen, Alexi Alekov, Christoph Fahlke
Proc Natl Acad Sci U S A. 2006 Jul 25; 103(30): 11411–11416. Published online 2006 Jul 18. doi: 10.1073/pnas.0601631103
PMCID:
PMC1544099
AbstractArticlePDF–2.0M
18.
Two highly homologous members of the ClC chloride channel family in both rat and human kidney.
S Kieferle, P Fong, M Bens, A Vandewalle, T J Jentsch
Proc Natl Acad Sci U S A. 1994 Jul 19; 91(15): 6943–6947. doi: 10.1073/pnas.91.15.6943
PMCID:
PMC44314
SummaryPage BrowsePDF–1.5M
19.
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
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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