000843588 001__ 843588
000843588 005__ 20210129232557.0
000843588 0247_ $$2doi$$a10.1038/s41588-018-0048-5
000843588 0247_ $$2ISSN$$a1061-4036
000843588 0247_ $$2ISSN$$a1546-1718
000843588 0247_ $$2pmid$$apmid:29403011
000843588 0247_ $$2WOS$$aWOS:000427933400009
000843588 0247_ $$2altmetric$$aaltmetric:32696415
000843588 037__ $$aFZJ-2018-01170
000843588 082__ $$a570
000843588 1001_ $$00000-0002-0309-8045$$aScholl, Ute I.$$b0$$eCorresponding author
000843588 245__ $$aCLCN2 chloride channel mutations in familial hyperaldosteronism type II
000843588 260__ $$aNew York, NY$$bNature America$$c2018
000843588 3367_ $$2DRIVER$$aarticle
000843588 3367_ $$2DataCite$$aOutput Types/Journal article
000843588 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1523525533_13026
000843588 3367_ $$2BibTeX$$aARTICLE
000843588 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000843588 3367_ $$00$$2EndNote$$aJournal Article
000843588 520__ $$aPrimary aldosteronism, a common cause of severe hypertension1, features constitutive production of the adrenal steroid aldosterone. We analyzed a multiplex family with familial hyperaldosteronism type II (FH-II)2 and 80 additional probands with unsolved early-onset primary aldosteronism. Eight probands had novel heterozygous variants in CLCN2, including two de novo mutations and four independent occurrences of a mutation encoding an identical p.Arg172Gln substitution; all relatives with early-onset primary aldosteronism carried the CLCN2 variant found in the proband. CLCN2 encodes a voltage-gated chloride channel expressed in adrenal glomerulosa that opens at hyperpolarized membrane potentials. Channel opening depolarizes glomerulosa cells and induces expression of aldosterone synthase, the rate-limiting enzyme for aldosterone biosynthesis. Mutant channels show gain of function, with higher open probabilities at the glomerulosa resting potential. These findings for the first time demonstrate a role of anion channels in glomerulosa membrane potential determination, aldosterone production and hypertension. They establish the cause of a substantial fraction of early-onset primary aldosteronism.
000843588 536__ $$0G:(DE-HGF)POF3-553$$a553 - Physical Basis of Diseases (POF3-553)$$cPOF3-553$$fPOF III$$x0
000843588 588__ $$aDataset connected to CrossRef
000843588 7001_ $$0P:(DE-Juel1)156347$$aStölting, Gabriel$$b1
000843588 7001_ $$0P:(DE-HGF)0$$aSchewe, Julia$$b2
000843588 7001_ $$00000-0002-9523-2351$$aThiel, Anne$$b3
000843588 7001_ $$0P:(DE-Juel1)164255$$aTan, Hua$$b4$$ufzj
000843588 7001_ $$00000-0003-0768-4751$$aNelson-Williams, Carol$$b5
000843588 7001_ $$0P:(DE-HGF)0$$aVichot, Alfred A.$$b6
000843588 7001_ $$0P:(DE-HGF)0$$aJin, Sheng Chih$$b7
000843588 7001_ $$0P:(DE-HGF)0$$aLoring, Erin$$b8
000843588 7001_ $$0P:(DE-Juel1)156548$$aUntiet, Verena$$b9
000843588 7001_ $$0P:(DE-HGF)0$$aYoo, Taekyeong$$b10
000843588 7001_ $$0P:(DE-HGF)0$$aChoi, Jungmin$$b11
000843588 7001_ $$0P:(DE-HGF)0$$aXu, Shengxin$$b12
000843588 7001_ $$0P:(DE-HGF)0$$aWu, Aihua$$b13
000843588 7001_ $$0P:(DE-HGF)0$$aKirchner, Marieluise$$b14
000843588 7001_ $$0P:(DE-HGF)0$$aMertins, Philipp$$b15
000843588 7001_ $$0P:(DE-HGF)0$$aRump, Lars C.$$b16
000843588 7001_ $$0P:(DE-HGF)0$$aOnder, Ali Mirza$$b17
000843588 7001_ $$0P:(DE-HGF)0$$aGamble, Cory$$b18
000843588 7001_ $$0P:(DE-HGF)0$$aMcKenney, Daniel$$b19
000843588 7001_ $$0P:(DE-HGF)0$$aLash, Robert W.$$b20
000843588 7001_ $$0P:(DE-HGF)0$$aJones, Deborah P.$$b21
000843588 7001_ $$0P:(DE-HGF)0$$aChune, Gary$$b22
000843588 7001_ $$0P:(DE-HGF)0$$aGagliardi, Priscila$$b23
000843588 7001_ $$00000-0002-9195-1455$$aChoi, Murim$$b24
000843588 7001_ $$0P:(DE-HGF)0$$aGordon, Richard$$b25
000843588 7001_ $$0P:(DE-HGF)0$$aStowasser, Michael$$b26
000843588 7001_ $$0P:(DE-Juel1)136837$$aFahlke, Christoph$$b27$$ufzj
000843588 7001_ $$0P:(DE-HGF)0$$aLifton, Richard P.$$b28
000843588 773__ $$0PERI:(DE-600)1494946-5$$a10.1038/s41588-018-0048-5$$n3$$p349-354$$tNature genetics$$v50$$x1546-1718$$y2018
000843588 8564_ $$uhttps://juser.fz-juelich.de/record/843588/files/s41588-018-0048-5.pdf$$yRestricted
000843588 8564_ $$uhttps://juser.fz-juelich.de/record/843588/files/s41588-018-0048-5.gif?subformat=icon$$xicon$$yRestricted
000843588 8564_ $$uhttps://juser.fz-juelich.de/record/843588/files/s41588-018-0048-5.jpg?subformat=icon-1440$$xicon-1440$$yRestricted
000843588 8564_ $$uhttps://juser.fz-juelich.de/record/843588/files/s41588-018-0048-5.jpg?subformat=icon-180$$xicon-180$$yRestricted
000843588 8564_ $$uhttps://juser.fz-juelich.de/record/843588/files/s41588-018-0048-5.jpg?subformat=icon-640$$xicon-640$$yRestricted
000843588 8564_ $$uhttps://juser.fz-juelich.de/record/843588/files/s41588-018-0048-5.pdf?subformat=pdfa$$xpdfa$$yRestricted
000843588 909CO $$ooai:juser.fz-juelich.de:843588$$pVDB
000843588 9101_ $$0I:(DE-588b)5008462-8$$6P:(DE-Juel1)156347$$aForschungszentrum Jülich$$b1$$kFZJ
000843588 9101_ $$0I:(DE-588b)5008462-8$$6P:(DE-Juel1)164255$$aForschungszentrum Jülich$$b4$$kFZJ
000843588 9101_ $$0I:(DE-588b)5008462-8$$6P:(DE-Juel1)156548$$aForschungszentrum Jülich$$b9$$kFZJ
000843588 9101_ $$0I:(DE-588b)5008462-8$$6P:(DE-Juel1)136837$$aForschungszentrum Jülich$$b27$$kFZJ
000843588 9131_ $$0G:(DE-HGF)POF3-553$$1G:(DE-HGF)POF3-550$$2G:(DE-HGF)POF3-500$$3G:(DE-HGF)POF3$$4G:(DE-HGF)POF$$aDE-HGF$$bKey Technologies$$lBioSoft – Fundamentals for future Technologies in the fields of Soft Matter and Life Sciences$$vPhysical Basis of Diseases$$x0
000843588 9141_ $$y2018
000843588 915__ $$0StatID:(DE-HGF)0420$$2StatID$$aNationallizenz
000843588 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline
000843588 915__ $$0StatID:(DE-HGF)0310$$2StatID$$aDBCoverage$$bNCBI Molecular Biology Database
000843588 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bNAT GENET : 2015
000843588 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS
000843588 915__ $$0StatID:(DE-HGF)0600$$2StatID$$aDBCoverage$$bEbsco Academic Search
000843588 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bASC
000843588 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bThomson Reuters Master Journal List
000843588 915__ $$0StatID:(DE-HGF)0110$$2StatID$$aWoS$$bScience Citation Index
000843588 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection
000843588 915__ $$0StatID:(DE-HGF)0111$$2StatID$$aWoS$$bScience Citation Index Expanded
000843588 915__ $$0StatID:(DE-HGF)1030$$2StatID$$aDBCoverage$$bCurrent Contents - Life Sciences
000843588 915__ $$0StatID:(DE-HGF)1050$$2StatID$$aDBCoverage$$bBIOSIS Previews
000843588 915__ $$0StatID:(DE-HGF)9930$$2StatID$$aIF >= 30$$bNAT GENET : 2015
000843588 920__ $$lyes
000843588 9201_ $$0I:(DE-Juel1)ICS-4-20110106$$kICS-4$$lZelluläre Biophysik$$x0
000843588 980__ $$ajournal
000843588 980__ $$aVDB
000843588 980__ $$aI:(DE-Juel1)ICS-4-20110106
000843588 980__ $$aUNRESTRICTED
000843588 981__ $$aI:(DE-Juel1)IBI-1-20200312