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@ARTICLE{Scholl:843588,
      author       = {Scholl, Ute I. and Stölting, Gabriel and Schewe, Julia and
                      Thiel, Anne and Tan, Hua and Nelson-Williams, Carol and
                      Vichot, Alfred A. and Jin, Sheng Chih and Loring, Erin and
                      Untiet, Verena and Yoo, Taekyeong and Choi, Jungmin and Xu,
                      Shengxin and Wu, Aihua and Kirchner, Marieluise and Mertins,
                      Philipp and Rump, Lars C. and Onder, Ali Mirza and Gamble,
                      Cory and McKenney, Daniel and Lash, Robert W. and Jones,
                      Deborah P. and Chune, Gary and Gagliardi, Priscila and Choi,
                      Murim and Gordon, Richard and Stowasser, Michael and Fahlke,
                      Christoph and Lifton, Richard P.},
      title        = {{CLCN}2 chloride channel mutations in familial
                      hyperaldosteronism type {II}},
      journal      = {Nature genetics},
      volume       = {50},
      number       = {3},
      issn         = {1546-1718},
      address      = {New York, NY},
      publisher    = {Nature America},
      reportid     = {FZJ-2018-01170},
      pages        = {349-354},
      year         = {2018},
      abstract     = {Primary 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.},
      cin          = {ICS-4},
      ddc          = {570},
      cid          = {I:(DE-Juel1)ICS-4-20110106},
      pnm          = {553 - Physical Basis of Diseases (POF3-553)},
      pid          = {G:(DE-HGF)POF3-553},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:29403011},
      UT           = {WOS:000427933400009},
      doi          = {10.1038/s41588-018-0048-5},
      url          = {https://juser.fz-juelich.de/record/843588},
}