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62 results

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Page 1
Polygenic prediction of preeclampsia and gestational hypertension.
Honigberg MC, Truong B, Khan RR, Xiao B, Bhatta L, Vy HMT, Guerrero RF, Schuermans A, Selvaraj MS, Patel AP, Koyama S, Cho SMJ, Vellarikkal SK, Trinder M, Urbut SM, Gray KJ, Brumpton BM, Patil S, Zöllner S, Antopia MC, Saxena R, Nadkarni GN, Do R, Yan Q, Pe'er I, Verma SS, Gupta RM, Haas DM, Martin HC, van Heel DA, Laisk T, Natarajan P. Honigberg MC, et al. Nat Med. 2023 Jun;29(6):1540-1549. doi: 10.1038/s41591-023-02374-9. Epub 2023 May 29. Nat Med. 2023. PMID: 37248299 Free PMC article.
Altogether, we identified 18 independent loci associated with preeclampsia/eclampsia and/or gestational hypertension, 12 of which are new (for example, MTHFR-CLCN6, WNT3A, NPR3, PGR and RGL3), including two loci (PLCE1 and FURIN) identified in the multitrait analysis. ...
Altogether, we identified 18 independent loci associated with preeclampsia/eclampsia and/or gestational hypertension, 12 of which are new (f …
Mutations in CLCN6 as a Novel Genetic Cause of Neuronal Ceroid Lipofuscinosis in Patients and a Murine Model.
He H, Cao X, He F, Zhang W, Wang X, Peng P, Xie C, Yin F, Li D, Li J, Wang M, Klüssendorf M, Jentsch TJ, Stauber T, Peng J. He H, et al. Ann Neurol. 2024 Sep;96(3):608-624. doi: 10.1002/ana.27002. Epub 2024 Jun 15. Ann Neurol. 2024. PMID: 38877824
Carbohydrate and lipid deposits accumulated in Clcn6(E200A/+) brain, while only lipid storage was found in Clcn6(-/-) brain. Lysosome dysfunction, autophagy defects, and gliosis were early pathogenic events preceding neuron loss. INTERPRETATION: CLCN6 is a no …
Carbohydrate and lipid deposits accumulated in Clcn6(E200A/+) brain, while only lipid storage was found in Clcn6(-/-) brain. L …
Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk.
Yu B, Pulit SL, Hwang SJ, Brody JA, Amin N, Auer PL, Bis JC, Boerwinkle E, Burke GL, Chakravarti A, Correa A, Dreisbach AW, Franco OH, Ehret GB, Franceschini N, Hofman A, Lin DY, Metcalf GA, Musani SK, Muzny D, Palmas W, Raffel L, Reiner A, Rice K, Rotter JI, Veeraraghavan N, Fox E, Guo X, North KE, Gibbs RA, van Duijn CM, Psaty BM, Levy D, Newton-Cheh C, Morrison AC; CHARGE Consortium and the National Heart, Lung, and Blood Institute GO ESP*. Yu B, et al. Circ Cardiovasc Genet. 2016 Feb;9(1):64-70. doi: 10.1161/CIRCGENETICS.115.001215. Epub 2015 Dec 11. Circ Cardiovasc Genet. 2016. PMID: 26658788 Free PMC article.
Meta-analysis of the 2-stage discovery samples showed that CLCN6 was associated with lower diastolic BP at exome-wide significance (cumulative minor allele frequency, 1.1%; beta=-3.30; P=5.0 10(-7)). CONCLUSIONS: These findings implicate the effect of rare coding variants …
Meta-analysis of the 2-stage discovery samples showed that CLCN6 was associated with lower diastolic BP at exome-wide significance (c …
Genome-wide association analysis and fine mapping of NT-proBNP level provide novel insight into the role of the MTHFR-CLCN6-NPPA-NPPB gene cluster.
Del Greco M F, Pattaro C, Luchner A, Pichler I, Winkler T, Hicks AA, Fuchsberger C, Franke A, Melville SA, Peters A, Wichmann HE, Schreiber S, Heid IM, Krawczak M, Minelli C, Wiedermann CJ, Pramstaller PP. Del Greco M F, et al. Hum Mol Genet. 2011 Apr 15;20(8):1660-71. doi: 10.1093/hmg/ddr035. Epub 2011 Jan 27. Hum Mol Genet. 2011. PMID: 21273288 Free PMC article.
A genome-wide significant signal in the MTHFR-CLCN6-NPPA-NPPB gene cluster was replicated, after correction for multiple testing (replication one-sided P-value = 8.4 10(-10)). ...The identification of novel variants in the MTHFR-CLCN6-NPPA-NPPB cluster provides ne …
A genome-wide significant signal in the MTHFR-CLCN6-NPPA-NPPB gene cluster was replicated, after correction for multiple testing (rep …
Modulation of blood pressure regulatory genes in the Agtrap-Plod1 locus associated with a deletion in Clcn6.
Klemens CA, Dissanayake LV, Levchenko V, Zietara A, Palygin O, Staruschenko A. Klemens CA, et al. Physiol Rep. 2022 Aug;10(15):e15417. doi: 10.14814/phy2.15417. Physiol Rep. 2022. PMID: 35927940 Free PMC article.
The AGTRAP-PLOD1 locus is a conserved gene cluster containing several blood pressure regulatory genes, including CLCN6, MTHFR, NPPA, and NPPB. Previous work revealed that knockout of Clcn6 on the Dahl Salt-Sensitive (SS) rat background (SS-Clcn6) resulted in …
The AGTRAP-PLOD1 locus is a conserved gene cluster containing several blood pressure regulatory genes, including CLCN6, MTHFR, NPPA, …
Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures.
Yamamoto T, Shimojima K, Sangu N, Komoike Y, Ishii A, Abe S, Yamashita S, Imai K, Kubota T, Fukasawa T, Okanishi T, Enoki H, Tanabe T, Saito A, Furukawa T, Shimizu T, Milligan CJ, Petrou S, Heron SE, Dibbens LM, Hirose S, Okumura A. Yamamoto T, et al. PLoS One. 2015 Mar 20;10(3):e0118946. doi: 10.1371/journal.pone.0118946. eCollection 2015. PLoS One. 2015. PMID: 25794116 Free PMC article.
We identified a non-synonymous single nucleotide variation (SNV) in the voltage-sensitive chloride channel 6 gene (CLCN6). A cohort study of 48 BPEI patients without PRRT2 mutations revealed a different CLCN6 SNV in a patient, his sibling and his father who had a hi …
We identified a non-synonymous single nucleotide variation (SNV) in the voltage-sensitive chloride channel 6 gene (CLCN6). A cohort s …
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl(-)/H(+)-Exchanger, Causes Early-Onset Neurodegeneration.
Polovitskaya MM, Barbini C, Martinelli D, Harms FL, Cole FS, Calligari P, Bocchinfuso G, Stella L, Ciolfi A, Niceta M, Rizza T, Shinawi M, Sisco K, Johannsen J, Denecke J, Carrozzo R, Wegner DJ, Kutsche K, Tartaglia M, Jentsch TJ. Polovitskaya MM, et al. Am J Hum Genet. 2020 Dec 3;107(6):1062-1077. doi: 10.1016/j.ajhg.2020.11.004. Epub 2020 Nov 19. Am J Hum Genet. 2020. PMID: 33217309 Free PMC article.
We now report three unrelated children with severe neurodegenerative disease, who carry the same de novo c.1658A>G (p.Tyr553Cys) mutation in CLCN6, encoding the late endosomal Cl(-)/H(+)-exchanger ClC-6. Whereas Clcn6(-/-) mice have only mild neuronal lysosomal s …
We now report three unrelated children with severe neurodegenerative disease, who carry the same de novo c.1658A>G (p.Tyr553Cys) mutation …
Molecular basis of ClC-6 function and its impairment in human disease.
Zhang B, Zhang S, Polovitskaya MM, Yi J, Ye B, Li R, Huang X, Yin J, Neuens S, Balfroid T, Soblet J, Vens D, Aeby A, Li X, Cai J, Song Y, Li Y, Tartaglia M, Li Y, Jentsch TJ, Yang M, Liu Z. Zhang B, et al. Sci Adv. 2023 Oct 13;9(41):eadg4479. doi: 10.1126/sciadv.adg4479. Epub 2023 Oct 13. Sci Adv. 2023. PMID: 37831762 Free PMC article.
Besides providing insights into the structure, function, and regulation of ClC-6, our work correctly predicts hotspots for CLCN6 mutations in neurodegenerative disorders....
Besides providing insights into the structure, function, and regulation of ClC-6, our work correctly predicts hotspots for CLCN6 muta …
Identification and validation of a signature involving voltage-gated chloride ion channel genes for prediction of prostate cancer recurrence.
Luo Y, Liu X, Li X, Zhong W, Lin J, Chen Q. Luo Y, et al. Front Endocrinol (Lausanne). 2022 Sep 30;13:1001634. doi: 10.3389/fendo.2022.1001634. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36246902 Free PMC article.
Enrichment analysis indicated our signature was primarily concentrated in cellular process and metabolic process. The expression patterns of CLCN2 and CLCN6 were detected in our own cohort based immunohistochemistry staining, and we found CLCN2 and CLCN6 were highly …
Enrichment analysis indicated our signature was primarily concentrated in cellular process and metabolic process. The expression patterns of …
62 results