Literature DB >> 26566104

KCNJ5 Mutations: Sex, Salt and Selection.

T A Williams1, J W M Lenders2, J Burrello1, F Beuschlein3, M Reincke3.   

Abstract

Somatic mutations have been identified in the KCNJ5 gene (encoding the potassium channel GIRK4) in aldosterone-producing adenomas (APA). Most of these mutations are located in or near the selectivity filter of the GIRK4 channel pore and several have been shown to lead to the constitutive overproduction of aldosterone. KCNJ5 mutations in APA are more frequent in women; however, this gender dimorphism is a reported phenomenon of Western but not East Asian populations. In this review we discuss some of the issues that could potentially underlie this observation. © Georg Thieme Verlag KG Stuttgart · New York.

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Year:  2015        PMID: 26566104     DOI: 10.1055/s-0035-1565090

Source DB:  PubMed          Journal:  Horm Metab Res        ISSN: 0018-5043            Impact factor:   2.936


  9 in total

Review 1.  Hyperaldosteronism: How to Discriminate Among Different Disease Forms?

Authors:  Valentina Crudo; Silvia Monticone; Jacopo Burrello; Fabrizio Buffolo; Martina Tetti; Franco Veglio; Paolo Mulatero
Journal:  High Blood Press Cardiovasc Prev       Date:  2016-05-02

2.  A novel somatic mutation 145-147delETEinsK in KCNJ5 increases aldosterone production.

Authors:  F-F Zheng; L-M Zhu; W-L Zhou; Y Zhang; M-Y Li; Y-C Zhu; J-G Wang; D-L Zhu; P-J Gao
Journal:  J Hum Hypertens       Date:  2017-08-24       Impact factor: 3.012

Review 3.  Primary aldosteronism diagnostics: KCNJ5 mutations and hybrid steroid synthesis in aldosterone-producing adenomas.

Authors:  Juilee Rege; Adina F Turcu; William E Rainey
Journal:  Gland Surg       Date:  2020-02

4.  Biochemical, Histopathological, and Genetic Characterization of Posture-Responsive and Unresponsive APAs.

Authors:  Zeng Guo; Kazutaka Nanba; Aaron Udager; Brett C McWhinney; Jacobus P J Ungerer; Martin Wolley; Moe Thuzar; Richard D Gordon; William E Rainey; Michael Stowasser
Journal:  J Clin Endocrinol Metab       Date:  2020-09-01       Impact factor: 5.958

Review 5.  GENETICS IN ENDOCRINOLOGY: Impact of race and sex on genetic causes of aldosterone-producing adenomas.

Authors:  Kazutaka Nanba; William E Rainey
Journal:  Eur J Endocrinol       Date:  2021-05-21       Impact factor: 6.664

Review 6.  Subtype Diagnosis of Primary Aldosteronism: Is Adrenal Vein Sampling Always Necessary?

Authors:  Fabrizio Buffolo; Silvia Monticone; Tracy A Williams; Denis Rossato; Jacopo Burrello; Martina Tetti; Franco Veglio; Paolo Mulatero
Journal:  Int J Mol Sci       Date:  2017-04-17       Impact factor: 5.923

7.  Targeted disruption of the Kcnj5 gene in the female mouse lowers aldosterone levels.

Authors:  Iris Hardege; Lu Long; Raya Al Maskari; Nicola Figg; Kevin M O'Shaughnessy
Journal:  Clin Sci (Lond)       Date:  2018-01-16       Impact factor: 6.124

8.  Adrenal Venous Sampling Could Be Omitted before Surgery in Patients with Conn's Adenoma Confirmed by Computed Tomography and Higher Normal Aldosterone Concentration after Saline Infusion Test.

Authors:  Robert Holaj; Petr Waldauf; Dan Wichterle; Jan Kvasnička; Tomáš Zelinka; Ondřej Petrák; Zuzana Krátká; Lubomíra Forejtová; Jan Kaván; Jiří Widimský
Journal:  Diagnostics (Basel)       Date:  2022-07-15

Review 9.  Comparative Genomics and Transcriptome Profiling in Primary Aldosteronism.

Authors:  Elke Tatjana Aristizabal Prada; Isabella Castellano; Eva Sušnik; Yuhong Yang; Lucie S Meyer; Martina Tetti; Felix Beuschlein; Martin Reincke; Tracy A Williams
Journal:  Int J Mol Sci       Date:  2018-04-09       Impact factor: 5.923

  9 in total

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