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Characterization of the R162W Kir7.1 mutation associated with snowflake vitreoretinopathy.

Zhang W, Zhang X, Wang H, Sharma AK, Edwards AO, Hughes BA.

Am J Physiol Cell Physiol. 2013 Mar 1;304(5):C440-9. doi: 10.1152/ajpcell.00363.2012. Epub 2012 Dec 19.


Snowflake vitreoretinal degeneration (SVD) mutation R162W provides new insights into Kir7.1 ion channel structure and function.

Pattnaik BR, Tokarz S, Asuma MP, Schroeder T, Sharma A, Mitchell JC, Edwards AO, Pillers DA.

PLoS One. 2013 Aug 19;8(8):e71744. doi: 10.1371/journal.pone.0071744. eCollection 2013.


Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration.

Hejtmancik JF, Jiao X, Li A, Sergeev YV, Ding X, Sharma AK, Chan CC, Medina I, Edwards AO.

Am J Hum Genet. 2008 Jan;82(1):174-80. doi: 10.1016/j.ajhg.2007.08.002.


Modulation of the Kir7.1 potassium channel by extracellular and intracellular pH.

Hughes BA, Swaminathan A.

Am J Physiol Cell Physiol. 2008 Feb;294(2):C423-31. Epub 2007 Dec 19.


Expression and permeation properties of the K(+) channel Kir7.1 in the retinal pigment epithelium.

Shimura M, Yuan Y, Chang JT, Zhang S, Campochiaro PA, Zack DJ, Hughes BA.

J Physiol. 2001 Mar 1;531(Pt 2):329-46.


The epithelial inward rectifier channel Kir7.1 displays unusual K+ permeation properties.

Döring F, Derst C, Wischmeyer E, Karschin C, Schneggenburger R, Daut J, Karschin A.

J Neurosci. 1998 Nov 1;18(21):8625-36.


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

Pearson WL, Dourado M, Schreiber M, Salkoff L, Nichols CG.

J Physiol. 1999 Feb 1;514 ( Pt 3):639-53.


Cellular localization of the potassium channel Kir7.1 in guinea pig and human kidney.

Derst C, Hirsch JR, Preisig-Müller R, Wischmeyer E, Karschin A, Döring F, Thomzig A, Veh RW, Schlatter E, Kummer W, Daut J.

Kidney Int. 2001 Jun;59(6):2197-205.


A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16).

Pattnaik BR, Shahi PK, Marino MJ, Liu X, York N, Brar S, Chiang J, Pillers DA, Traboulsi EI.

Hum Mutat. 2015 Jul;36(7):720-7. doi: 10.1002/humu.22807. Epub 2015 May 20.


Molecular cloning and expression of an inwardly rectifying K(+) channel from bovine corneal endothelial cells.

Yang D, Sun F, Thomas LL, Offord J, MacCallum DK, Dawson DC, Hughes BA, Ernst SA.

Invest Ophthalmol Vis Sci. 2000 Sep;41(10):2936-44.


Human FXYD2 G41R mutation responsible for renal hypomagnesemia behaves as an inward-rectifying cation channel.

Sha Q, Pearson W, Burcea LC, Wigfall DA, Schlesinger PH, Nichols CG, Mercer RW.

Am J Physiol Renal Physiol. 2008 Jul;295(1):F91-9. doi: 10.1152/ajprenal.00519.2007. Epub 2008 Apr 30.


Expression of Kir7.1 and a novel Kir7.1 splice variant in native human retinal pigment epithelium.

Yang D, Swaminathan A, Zhang X, Hughes BA.

Exp Eye Res. 2008 Jan;86(1):81-91. Epub 2007 Oct 2.


Identification of G protein-coupled, inward rectifier potassium channel gene products from the rat anterior pituitary gland.

Gregerson KA, Flagg TP, O'Neill TJ, Anderson M, Lauring O, Horel JS, Welling PA.

Endocrinology. 2001 Jul;142(7):2820-32.


Stable cation coordination at a single outer pore residue defines permeation properties in Kir channels.

Wischmeyer E, Döring F, Karschin A.

FEBS Lett. 2000 Jan 21;466(1):115-20.


Cloning and functional characterization of inward-rectifying potassium (Kir) channels from Malpighian tubules of the mosquito Aedes aegypti.

Piermarini PM, Rouhier MF, Schepel M, Kosse C, Beyenbach KW.

Insect Biochem Mol Biol. 2013 Jan;43(1):75-90. doi: 10.1016/j.ibmb.2012.09.009. Epub 2012 Oct 17.


The changes of potassium currents in RCS rat Müller cell during retinal degeneration.

Zhao T, Li Y, Weng C, Yin Z.

Brain Res. 2012 Jan 3;1427:78-87. doi: 10.1016/j.brainres.2011.10.011. Epub 2011 Oct 12. Erratum in: Brain Res. 2012 Apr 17;1449:117.


Interaction of the Ca2+-sensing receptor with the inwardly rectifying potassium channels Kir4.1 and Kir4.2 results in inhibition of channel function.

Huang C, Sindic A, Hill CE, Hujer KM, Chan KW, Sassen M, Wu Z, Kurachi Y, Nielsen S, Romero MF, Miller RT.

Am J Physiol Renal Physiol. 2007 Mar;292(3):F1073-81. Epub 2006 Nov 22.


Sulfonylurea receptors type 1 and 2A randomly assemble to form heteromeric KATP channels of mixed subunit composition.

Chan KW, Wheeler A, Csanády L.

J Gen Physiol. 2008 Jan;131(1):43-58. Epub 2007 Dec 17.


Expression and localization of the inwardly rectifying potassium channel Kir7.1 in native bovine retinal pigment epithelium.

Yang D, Pan A, Swaminathan A, Kumar G, Hughes BA.

Invest Ophthalmol Vis Sci. 2003 Jul;44(7):3178-85.


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