Literature DB >> 20806840

Genetic disorders of ion channels.

Decha Enkvetchakul1.   

Abstract

Ion channels play important roles in numerous physiological processes, including the control of heart rate, propagation of the nerve impulse, and insulin secretion. Abnormal functioning of ion channels can cause disease. This article presents an overview of the diseases in humans that are a result of mutations in ion channels.

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Year:  2010        PMID： 20806840      PMCID： PMC6188370     

Source DB:  PubMed          Journal:  Mo Med        ISSN： 0026-6620


  17 in total

Review 1.  K(ATP) channels and insulin secretion disorders.

Authors:  H Huopio; S-L Shyng; T Otonkoski; C G Nichols
Journal:  Am J Physiol Endocrinol Metab       Date:  2002-08       Impact factor: 4.310

Review 2.  Polycystins, calcium signaling, and human diseases.

Authors:  Patrick Delmas; Françoise Padilla; Nancy Osorio; Bertrand Coste; Matthieu Raoux; Marcel Crest
Journal:  Biochem Biophys Res Commun       Date:  2004-10-01       Impact factor: 3.575

Review 3.  Inherited disorders of voltage-gated sodium channels.

Authors:  Alfred L George
Journal:  J Clin Invest       Date:  2005-08       Impact factor: 14.808

Review 4.  Molecular pathogenesis of spinocerebellar ataxia type 6.

Authors:  Holly B Kordasiewicz; Christopher M Gomez
Journal:  Neurotherapeutics       Date:  2007-04       Impact factor: 7.620

Review 5.  The QT syndromes: long and short.

Authors:  Hiroshi Morita; Jiashin Wu; Douglas P Zipes
Journal:  Lancet       Date:  2008-08-30       Impact factor: 79.321

Review 6.  Molecular genetics of infantile nervous system channelopathies.

Authors:  Mark Gardiner
Journal:  Early Hum Dev       Date:  2006-10-17       Impact factor: 2.079

7.  Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder.

Authors:  Wei Du; Jocelyn F Bautista; Huanghe Yang; Ana Diez-Sampedro; Sun-Ah You; Lejin Wang; Prakash Kotagal; Hans O Lüders; Jingyi Shi; Jianmin Cui; George B Richerson; Qing K Wang
Journal:  Nat Genet       Date:  2005-06-05       Impact factor: 38.330

Review 8.  Primary episodic ataxias: diagnosis, pathogenesis and treatment.

Authors:  J C Jen; T D Graves; E J Hess; M G Hanna; R C Griggs; R W Baloh
Journal:  Brain       Date:  2007-06-15       Impact factor: 13.501

Review 9.  Chloride channelopathies.

Authors:  Rosa Planells-Cases; Thomas J Jentsch
Journal:  Biochim Biophys Acta       Date:  2009-03

Review 10.  Clinical and molecular features of type 1 pseudohypoaldosteronism.

Authors:  Felix G Riepe
Journal:  Horm Res       Date:  2009-06-30
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  1 in total

Review 1.  Ion Channels and Transporters in Muscle Cell Differentiation.

Authors:  Lingye Chen; Fatemeh Hassani Nia; Tobias Stauber
Journal:  Int J Mol Sci       Date:  2021-12-19       Impact factor: 5.923
  1 in total

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