Genetic defects in the hotspot of inwardly rectifying K+ (Kir) channels and their metabolic consequences: A review (original) (raw)

The Human Inward Rectifying K+Channel Kir 2.2 (KCNJ12) Gene: Gene Structure, Assignment to Chromosome 17p11.1, and Identification of a Simple Tandem Repeat Polymorphism

Michel Lazdunski

Genomics, 1997

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Variable K+ channel subunit dysfunction in inherited mutations of KCNA1

Alexander Spauschus

The Journal of Physiology, 2002

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KCR1, a Membrane Protein That Facilitates Functional Expression of Non-inactivating K+ Currents Associates with Rat EAG Voltage-dependent K+ Channels

mohammad shahidullah

Journal of Biological Chemistry, 1998

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Disease Associated Mutations in KIR Proteins Linked to Aberrant Inward Rectifier Channel Trafficking

Marcel Van Der Heyden

Biomolecules, 2019

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Focus on K ir 7.1: physiology and channelopathy

Mohit Kumar

Channels, 2014

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Voltage-dependent block by internal spermine of the murine inwardly rectifying K+ channel, Kir2.1, with asymmetrical K+ concentrations

Masayoshi Okada

The Journal of Physiology, 2010

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Characterizations of a loss-of-function mutation in the Kir3.4 channel subunit

Jesper Svendsen

Biochemical and Biophysical Research Communications, 2007

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Activating Mutations in the Gene Encoding the ATP-Sensitive Potassium-Channel Subunit Kir6.2 and Permanent Neonatal Diabetes

Javier Aisenberg

New England Journal of Medicine, 2004

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Expression of a functional Kir4 family inward rectifier K+ channel from a gene cloned from mouse liver

Lawrence Salkoff

The Journal of Physiology, 1999

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Molecular cloning and functional expression of a novel brain-specific inward rectifier potassium channel

Arshad Jahangir

1994

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Pathogenic effects of a novel mutation (c.664_681del) in KCNQ4 channels associated with auditory pathology

Dennis Drayna

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2011

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Channelopathies of inwardly rectifying potassium channels

Alexey Alekseev

The FASEB Journal

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Characterization and Functional Restoration of a Potassium Channel Kir6.2 Pore Mutation Identified in Congenital Hyperinsulinism

Show-ling Shyng

Journal of Biological Chemistry, 2010

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Co-expression of Human Kir3 Subunits Can Yield Channels with Different Functional Properties

Oscar Schoots

Cellular Signalling, 1999

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Characterization of a Shaw-related potassium channel family in rat brain

R. Lichtinghagen

The EMBO Journal, 1992

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Heterodimerization within the TREK channel subfamily produces a diverse family of highly regulated potassium channels

Guillaume Sandoz

Proceedings of the National Academy of Sciences of the United States of America, 2016

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Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K(+) Channel Encoded by KCNJ6

Elisa Pisaneschi

American journal of human genetics, 2015

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Voltage-gated K+ Channel from Mammalian Brain: 3D Structure at 18Å of the Complete (α)4(β)4 Complex

frank booy

Journal of Molecular Biology, 2003

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Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome

Philippe Campeau

The American Journal of Human Genetics, 2019

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International Union of Pharmacology. LIV. Nomenclature and Molecular Relationships of Inwardly Rectifying Potassium Channels

Michel Lazdunski

Pharmacological Reviews, 2005

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TWIK-1, a ubiquitous human weakly inward rectifying K+ channel with a novel structure

Michel Lazdunski

The EMBO Journal, 1996

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Intracellular ATP binding is required to activate the slowly activating K+ channel IKs

Kelli McFarland

Proceedings of the National Academy of Sciences, 2013

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Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability

Patrizia Avoni

Annals of Neurology, 2000

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Mechanisms of K + Channel Regulation

Gerda Breitwieser

Journal of Membrane Biology, 1996

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Focus on Kir6. 2: a key component of the ATP-sensitive potassium channel

Shozeb Haider

Journal of molecular and …, 2005

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Modulation of Kir4.1 and Kir4.1-Kir5.1 channels by extracellular cations

Rikke Søe

Biochimica et Biophysica Acta (BBA) - Biomembranes, 2009

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Genomic Localization of the Human Gene for KCNA10, a cGMP-Activated K Channel

Gary Desir

Genomics, 1997

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The molecular biology of K+ channels

Leonard Kaczmarek

Current Opinion in Cell Biology, 1991

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Alterations in Conserved Kir Channel-PIP2 Interactions Underlie Channelopathies

Coeli Lopes

Neuron, 2002

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