Citations for
1KCNJ13, LCA16
Gene Augmentation and Readthrough Rescue Channelopathy in an iPSC-RPE Model of Congenital Blindness.
Shahi PK, Hermans D, Sinha D, Brar S, Moulton H, Stulo S, Borys KD, Capowski E, Pillers DM, Gamm DM, Pattnaik BR.
Am J Hum Genet 104(2):310-318. doi: 10.1016/j.ajhg.2018.12.019. Epub 2019 Jan 24. 2019
2KCNJ13, LCA16
A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations.
Khan AO, Bergmann C, Neuhaus C, Bolz HJ.
Ophthalmic Genet 36(1):79-84. doi: 10.3109/13816810.2014.985846. Epub 2014 Dec 5. 2015
3KCNJ13, LCA16
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 36(7):720-7. doi: 10.1002/humu.22807. Epub 2015 May 20. 2015
4KCNJ13
CRISPR-engineered mosaicism rapidly reveals that loss of Kcnj13 function in mice mimics human disease phenotypes.
Zhong H, Chen Y, Li Y, Chen R, Mardon G.
Sci Rep 5:8366. doi: 10.1038/srep08366. Erratum in: Sci Rep. 2015;5:9731. 2015
5AGRP, KCNJ13, MC4R
G-protein-independent coupling of MC4R to Kir7.1 in hypothalamic neurons.
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.
Nature 520(7545):94-8. doi: 10.1038/nature14051. Epub 2015 Jan 19. 2015
6KCNJ13
The inwardly rectifying K+ channel KIR7.1 controls uterine excitability throughout pregnancy.
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.
EMBO Mol Med 6(9):1161-74. doi: 10.15252/emmm.201403944. 2014
7KCNJ13, SVD
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 304(5):C440-9. doi: 10.1152/ajpcell.00363.2012. Epub 2012 Dec 19. 2013
8KCNJ13, SVD
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 8(8):e71744. doi: 10.1371/journal.pone.0071744. eCollection 2013. 2013
9KCNJ13, LCA16
Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.
Sergouniotis PI, Davidson AE, Mackay DS, Li Z, Yang X, Plagnol V, Moore AT, Webster AR.
Am J Hum Genet 89(1):183-90. doi: 10.1016/j.ajhg.2011.06.002. 2011
10KCNJ13
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 86(1):81-91. Epub 2007 Oct 2. 2008
11KCNJ13, SVD
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 82(1):174-80. 2008
12KCNJ13
Dual regulation of renal Kir7.1 potassium channels by protein Kinase A and protein Kinase C.
Zhang W, Zitron E, Bloehs R, Müller-Krebs S, Scholz E, Zeier M, Katus H, Karle C, Schwenger V.
Biochem Biophys Res Commun 377(3):981-6. doi: 10.1016/j.bbrc.2008.10.110. Epub 2008 Oct 29. 2008
13KCNJ13
Role of C-terminus of Kir7.1 potassium channel in cell-surface expression.
Tateno T, Nakamura N, Hirata Y, Hirose S.
Cell Biol Int 30(3):270-7. Epub 2006 Jan 9. 2006
14KCNJ13
Expression of the K+ channel Kir7.1 in the developing rat kidney: role in K+ excretion.
Suzuki Y, Yasuoka Y, Shimohama T, Nishikitani M, Nakamura N, Hirose S, Kawahara K.
Kidney Int 63(3):969-75. 2003
15KCNJ13
Localization of inward rectifier potassium channel Kir7.1 in the basolateral membrane of distal nephron and collecting duct.
Ookata K, Tojo A, Suzuki Y, Nakamura N, Kimura K, Wilcox CS, Hirose S.
J Am Soc Nephrol 11(11):1987-94. 2000
16KCNJ13
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.
Nakamura N, Suzuki Y, Sakuta H, Ookata K, Kawahara K, Hirose S.
Biochem J 342 ( Pt 2):329-36 1999
17KCNJ13
Partial gene structure and assignment to chromosome 2q37 of the human inwardly rectifying K+ channel (Kir7.1) gene (KCNJ13).
Derst C, Doring F, Preisig-Muller R, Daut J, Karschin A, Jeck N, Weber S, Engel H, Grzeschik KH.
Genomics 54 : 560-563. 1998
18KCNJ13
The epithelial inward rectifier channel Kir7.1 displays unusual K+ permeation properties.
Doring F, Derst C, Wischmeyer E, Karschin C, Schneggenburger R, Daut J, Karschin A.
J Neurosci 18 : 8625-8636. 1998
19KCNJ13
A novel inward rectifier K+ channel with unique pore properties.
Krapivinsky G, Medina I, Eng L, Krapivinsky L, Yang Y, Clapham DE.
Neuron 20 : 995-1005. 1998