Literature DB >> 28974779

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

F-F Zheng1,2, L-M Zhu1, W-L Zhou3,4, Y Zhang1, M-Y Li1, Y-C Zhu5, J-G Wang1, D-L Zhu1, P-J Gao1,6.   

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Year:  2017        PMID： 28974779     DOI： 10.1038/jhh.2017.50

Source DB:  PubMed          Journal:  J Hum Hypertens        ISSN： 0950-9240            Impact factor:   3.012


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  10 in total

Review 1.  Ion conduction and selectivity in K(+) channels.

Authors:  Benoît Roux
Journal:  Annu Rev Biophys Biomol Struct       Date:  2005

2.  Potassium channel mutant KCNJ5 T158A expression in HAC-15 cells increases aldosterone synthesis.

Authors:  Kenji Oki; Maria W Plonczynski; Milay Luis Lam; Elise P Gomez-Sanchez; Celso E Gomez-Sanchez
Journal:  Endocrinology       Date:  2012-02-07       Impact factor: 4.736

3.  Pharmacology and pathophysiology of mutated KCNJ5 found in adrenal aldosterone-producing adenomas.

Authors:  P Tauber; D Penton; J Stindl; E Humberg; I Tegtmeier; C Sterner; F Beuschlein; M Reincke; J Barhanin; S Bandulik; R Warth
Journal:  Endocrinology       Date:  2014-02-07       Impact factor: 4.736

Review 4.  Genetics of primary hyperaldosteronism.

Authors:  Ravi Kumar Dutta; Peter Söderkvist; Oliver Gimm
Journal:  Endocr Relat Cancer       Date:  2016-08-02       Impact factor: 5.678

5.  Clinical characteristics of somatic mutations in Chinese patients with aldosterone-producing adenoma.

Authors:  Fang-Fang Zheng; Li-Min Zhu; Ai-Fang Nie; Xiao-Ying Li; Jing-Rong Lin; Ke Zhang; Jing Chen; Wen-Long Zhou; Zhou-Jun Shen; Yi-Chun Zhu; Ji-Guang Wang; Ding-Liang Zhu; Ping-Jin Gao
Journal:  Hypertension       Date:  2015-01-26       Impact factor: 10.190

Review 6.  A Meta-Analysis of Somatic KCNJ5 K(+) Channel Mutations In 1636 Patients With an Aldosterone-Producing Adenoma.

Authors:  Livia Lenzini; Giacomo Rossitto; Giuseppe Maiolino; Claudio Letizia; John W Funder; Gian Paolo Rossi
Journal:  J Clin Endocrinol Metab       Date:  2015-06-11       Impact factor: 5.958

7.  K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension.

Authors:  Murim Choi; Ute I Scholl; Peng Yue; Peyman Björklund; Bixiao Zhao; Carol Nelson-Williams; Weizhen Ji; Yoonsang Cho; Aniruddh Patel; Clara J Men; Elias Lolis; Max V Wisgerhof; David S Geller; Shrikant Mane; Per Hellman; Gunnar Westin; Göran Åkerström; Wenhui Wang; Tobias Carling; Richard P Lifton
Journal:  Science       Date:  2011-02-11       Impact factor: 47.728

8.  A novel KCNJ5-insT149 somatic mutation close to, but outside, the selectivity filter causes resistant hypertension by loss of selectivity for potassium.

Authors:  Maniselvan Kuppusamy; Brasilina Caroccia; Julia Stindl; Sascha Bandulik; Livia Lenzini; Francesca Gioco; Veniamin Fishman; Giuseppe Zanotti; Celso Gomez-Sanchez; Michael Bader; Richard Warth; Gian Paolo Rossi
Journal:  J Clin Endocrinol Metab       Date:  2014-07-24       Impact factor: 5.958

Review 9.  KCNJ5 Mutations: Sex, Salt and Selection.

Authors:  T A Williams; J W M Lenders; J Burrello; F Beuschlein; M Reincke
Journal:  Horm Metab Res       Date:  2015-11-13       Impact factor: 2.936

10.  Role for germline mutations and a rare coding single nucleotide polymorphism within the KCNJ5 potassium channel in a large cohort of sporadic cases of primary aldosteronism.

Authors:  Meena Murthy; Shengxin Xu; Gianmichele Massimo; Martin Wolley; Richard D Gordon; Michael Stowasser; Kevin M O'Shaughnessy
Journal:  Hypertension       Date:  2014-01-13       Impact factor: 10.190
  10 in total
  5 in total

1.  Na/K Pump Mutations Associated with Primary Hyperaldosteronism Cause Loss of Function.

Authors:  Dylan J Meyer; Craig Gatto; Pablo Artigas
Journal:  Biochemistry       Date:  2019-03-14       Impact factor: 3.162

Review 2.  Pathogenesis of Primary Aldosteronism: Impact on Clinical Outcome.

Authors:  Lucas S Santana; Augusto G Guimaraes; Madson Q Almeida
Journal:  Front Endocrinol (Lausanne)       Date:  2022-06-23       Impact factor: 6.055

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

Review 4.  Approaches to Gene Mutation Analysis Using Formalin-Fixed Paraffin-Embedded Adrenal Tumor Tissue From Patients With Primary Aldosteronism.

Authors:  Kazutaka Nanba; William E Rainey; Aaron M Udager
Journal:  Front Endocrinol (Lausanne)       Date:  2021-06-29       Impact factor: 5.555

Review 5.  Diseases caused by mutations in the Na+/K+ pump α1 gene ATP1A1.

Authors:  Elisa D Biondo; Kerri Spontarelli; Giovanna Ababioh; Lois Méndez; Pablo Artigas
Journal:  Am J Physiol Cell Physiol       Date:  2021-07-07       Impact factor: 5.282
  5 in total

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