1 | KCNJ13, LCA16
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| Gene Augmentation and Readthrough Rescue Channelopathy in an iPSC-RPE Model of Congenital Blindness.
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| Shahi PK, Hermans D, Sinha D, Brar S, Moulton H, Stulo S, Borys KD, Capowski E, Pillers DM, Gamm DM, Pattnaik BR.
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| Am J Hum Genet 104(2):310-318. doi: 10.1016/j.ajhg.2018.12.019. Epub 2019 Jan 24.
2019
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2 | KCNJ13, LCA16
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| A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations.
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| Khan AO, Bergmann C, Neuhaus C, Bolz HJ.
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| Ophthalmic Genet 36(1):79-84. doi: 10.3109/13816810.2014.985846. Epub 2014 Dec 5.
2015
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3 | KCNJ13, LCA16
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| A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16).
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| Pattnaik BR, Shahi PK, Marino MJ, Liu X, York N, Brar S, Chiang J, Pillers DA, Traboulsi EI.
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| Hum Mutat 36(7):720-7. doi: 10.1002/humu.22807. Epub 2015 May 20.
2015
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4 | KCNJ13
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| CRISPR-engineered mosaicism rapidly reveals that loss of Kcnj13 function in mice mimics human disease phenotypes.
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| Zhong H, Chen Y, Li Y, Chen R, Mardon G.
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| Sci Rep 5:8366. doi: 10.1038/srep08366. Erratum in: Sci Rep. 2015;5:9731.
2015
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5 | AGRP, KCNJ13, MC4R
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| G-protein-independent coupling of MC4R to Kir7.1 in hypothalamic neurons.
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| Ghamari-Langroudi M, Digby GJ, Sebag JA, Millhauser GL, Palomino R, Matthews R, Gillyard T, Panaro BL, Tough IR, Cox HM, Denton JS, Cone RD.
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| Nature 520(7545):94-8. doi: 10.1038/nature14051. Epub 2015 Jan 19.
2015
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6 | KCNJ13
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| The inwardly rectifying K+ channel KIR7.1 controls uterine excitability throughout pregnancy.
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| McCloskey C, Rada C, Bailey E, McCavera S, van den Berg HA, Atia J, Rand DA, Shmygol A, Chan YW, Quenby S, Brosens JJ, Vatish M, Zhang J, Denton JS, Taggart MJ, Kettleborough C, Tickle D, Jerman J, Wright P, Dale T, Kanumilli S, Trezise DJ, Thornton S, Brown P, Catalano R, Lin N, England SK, Blanks AM.
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| EMBO Mol Med 6(9):1161-74. doi: 10.15252/emmm.201403944.
2014
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7 | KCNJ13, SVD
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| Characterization of the R162W Kir7.1 mutation associated with snowflake vitreoretinopathy.
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| Zhang W, Zhang X, Wang H, Sharma AK, Edwards AO, Hughes BA.
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| Am J Physiol Cell Physiol 304(5):C440-9. doi: 10.1152/ajpcell.00363.2012. Epub 2012 Dec 19. 2013
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8 | KCNJ13, SVD
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| Snowflake vitreoretinal degeneration (SVD) mutation R162W provides new insights into Kir7.1 ion channel structure and function.
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| Pattnaik BR, Tokarz S, Asuma MP, Schroeder T, Sharma A, Mitchell JC, Edwards AO, Pillers DA.
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| PLoS One 8(8):e71744. doi: 10.1371/journal.pone.0071744. eCollection 2013.
2013
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9 | KCNJ13, LCA16
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| Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.
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| Sergouniotis PI, Davidson AE, Mackay DS, Li Z, Yang X, Plagnol V, Moore AT, Webster AR.
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| Am J Hum Genet 89(1):183-90. doi: 10.1016/j.ajhg.2011.06.002.
2011
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10 | KCNJ13
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| Expression of Kir7.1 and a novel Kir7.1 splice variant in native human retinal pigment epithelium.
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| Yang D, Swaminathan A, Zhang X, Hughes BA.
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| Exp Eye Res 86(1):81-91. Epub 2007 Oct 2. 2008
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11 | KCNJ13, SVD
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| Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration.
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| Hejtmancik JF, Jiao X, Li A, Sergeev YV, Ding X, Sharma AK, Chan CC, Medina I, Edwards AO.
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| Am J Hum Genet 82(1):174-80. 2008
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12 | KCNJ13
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| Dual regulation of renal Kir7.1 potassium channels by protein Kinase A and protein Kinase C.
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| Zhang W, Zitron E, Bloehs R, Müller-Krebs S, Scholz E, Zeier M, Katus H, Karle C, Schwenger V.
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| Biochem Biophys Res Commun 377(3):981-6. doi: 10.1016/j.bbrc.2008.10.110. Epub 2008 Oct 29. 2008
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13 | KCNJ13
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| Role of C-terminus of Kir7.1 potassium channel in cell-surface expression.
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| Tateno T, Nakamura N, Hirata Y, Hirose S.
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| Cell Biol Int 30(3):270-7. Epub 2006 Jan 9.
2006
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14 | KCNJ13
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| Expression of the K+ channel Kir7.1 in the developing rat kidney: role in K+ excretion.
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| Suzuki Y, Yasuoka Y, Shimohama T, Nishikitani M, Nakamura N, Hirose S, Kawahara K.
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| Kidney Int 63(3):969-75.
2003
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15 | KCNJ13
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| Localization of inward rectifier potassium channel Kir7.1 in the basolateral membrane of distal nephron and collecting duct.
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| Ookata K, Tojo A, Suzuki Y, Nakamura N, Kimura K, Wilcox CS, Hirose S.
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| J Am Soc Nephrol 11(11):1987-94. 2000
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16 | KCNJ13
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| Inwardly rectifying K+ channel Kir7.1 is highly expressed in thyroid follicular cells, intestinal epithelial cells and choroid plexus epithelial cells: implication for a functional coupling with Na+,K+-ATPase.
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| Nakamura N, Suzuki Y, Sakuta H, Ookata K, Kawahara K, Hirose S.
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| Biochem J 342 ( Pt 2):329-36 1999
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17 | KCNJ13
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| Partial gene structure and assignment to chromosome 2q37 of the human inwardly rectifying K+ channel (Kir7.1) gene (KCNJ13).
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| Derst C, Doring F, Preisig-Muller R, Daut J, Karschin A, Jeck N, Weber S, Engel H, Grzeschik KH.
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| Genomics 54 : 560-563. 1998
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18 | KCNJ13
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| The epithelial inward rectifier channel Kir7.1 displays unusual K+ permeation properties.
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| Doring F, Derst C, Wischmeyer E, Karschin C, Schneggenburger R, Daut J, Karschin A.
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| J Neurosci 18 : 8625-8636. 1998
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19 | KCNJ13
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| A novel inward rectifier K+ channel with unique pore properties.
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| Krapivinsky G, Medina I, Eng L, Krapivinsky L, Yang Y, Clapham DE.
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| Neuron 20 : 995-1005. 1998
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