| The unique structural characteristics of the Kir 7.1 inward rectifier potassium channel: a novel player in energy homeostasis control. | The unique structural characteristics of the Kir 7.1 inward rectifier potassium channel: a novel player in energy homeostasis control.
Hernandez CC, Gimenez LE, Dahir NS, Peisley A, Cone RD., Free PMC Article | 03/22/2023 |
| A novel phenotype associated with the R162W variant in the KCNJ13 gene. | A novel phenotype associated with the R162W variant in the KCNJ13 gene.
Schroeder M, Peter VG, Gränse L, Andréasson S, Rivolta C, Kjellström U. | 10/29/2022 |
| KCNJ13 Gene Deletion Impairs Cell Alignment and Phagocytosis in Retinal Pigment Epithelium Derived from Human-Induced Pluripotent Stem Cells. | KCNJ13 Gene Deletion Impairs Cell Alignment and Phagocytosis in Retinal Pigment Epithelium Derived from Human-Induced Pluripotent Stem Cells.
Kanzaki Y, Fujita H, Sato K, Hosokawa M, Matsumae H, Shiraga F, Morizane Y, Ohuchi H., Free PMC Article | 10/3/2020 |
| Both human and zebrafish variants are missense and located within the conserved transmembrane M2 protein domain, suggesting that disruption of this region may contribute to retinovascular changes as an additional feature to the previously described LCA phenotype. Close monitoring of other patients with similar mutations may be required to minimise the ensuing retinal damage. | Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafish.
Toms M, Dubis AM, Lim WS, Webster AR, Gorin MB, Moosajee M., Free PMC Article | 02/22/2020 |
| We propose that mutant RPE Kir7.1 channels contribute directly to the abnormal ERG associated with blindness via alterations in sub-retinal space K(+) homeostasis in the vicinity of the photoreceptor outer segment. | Abnormal Electroretinogram after Kir7.1 Channel Suppression Suggests Role in Retinal Electrophysiology.
Shahi PK, Liu X, Aul B, Moyer A, Pattnaik A, Denton J, Pillers DM, Pattnaik BR., Free PMC Article | 05/25/2019 |
| Results confirm earlier findings that the MC4R-Kir7.1 signaling is independent of Gs-AC-cAMP signaling pathway. Furthermore, these data suggest that a noncanonical GPCR signaling pathway may be essential for this interaction. | Characterization of MC4R Regulation of the Kir7.1 Channel Using the Tl(+) Flux Assay.
Litt MJ, Cone RD, Ghamari-Langroudi M., Free PMC Article | 07/28/2018 |
| The activated oxytocin receptor was able to inhibit the Kir7.1 channel, an important mediator of sub retinal waste transport and K(+) homeostasis. | Oxytocin (OXT)-stimulated inhibition of Kir7.1 activity is through PIP(2)-dependent Ca(2+) response of the oxytocin receptor in the retinal pigment epithelium in vitro.
York N, Halbach P, Chiu MA, Bird IM, Pillers DM, Pattnaik BR., Free PMC Article | 05/26/2018 |
| KCNJ13 mutations are responsible for early-onset retinal dystrophy, featuring remarkable clumpy pigment deposits at the level of the retinal pigment epithelium, suggesting dysfunction and disorganization of this tissue. | LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13.
Perez-Roustit S, Marquette V, Bocquet B, Kaplan J, Perrault I, Meunier I, Hamel CP. | 01/13/2018 |
| Kir7.1 mutations are associated with vision disorders to include novel insights into the molecular mechanism of disease pathobiology in Leber Congenital Amaurosis. | 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. | 03/26/2016 |
| Juvenile or early-adult-onset cataract in the setting of a congenital vitreo-retinal dystrophy notable for fibrosis over the disc and clumped pigmentation in the posterior pole is a unique phenotype that suggests recessive KCNJ13 mutations. | A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations.
Khan AO, Bergmann C, Neuhaus C, Bolz HJ. | 08/8/2015 |
| Kir7.1 regulates the transition from quiescence to contractions in the pregnant uterus. | 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., Free PMC Article | 05/23/2015 |
| Kir7.1, R162W mutant showed a reduction of IKir7.1 and positive shift in '0' current potential. | 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., Free PMC Article | 04/12/2014 |
| Kir7.1 expression was found in 100% of choroid plexus tumors and was absent in endolymphatic sac tumors. | Diagnostic value of EAAT-1 and Kir7.1 for distinguishing endolymphatic sac tumors from choroid plexus tumors.
Schittenhelm J, Roser F, Tatagiba M, Beschorner R. | 01/26/2013 |
| A homozygous nonsense mutation was found in the potassium channel subunit gene KCNJ13 that caused leber congenital amaurosis. | 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., Free PMC Article | 09/24/2011 |
| Observational study of gene-disease association. (HuGE Navigator) | Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
Trynka G, Zhernakova A, Romanos J, Franke L, Hunt KA, Turner G, Bruinenberg M, Heap GA, Platteel M, Ryan AW, de Kovel C, Holmes GK, Howdle PD, Walters JR, Sanders DS, Mulder CJ, Mearin ML, Verbeek WH, Trimble V, Stevens FM, Kelleher D, Barisani D, Bardella MT, McManus R, van Heel DA, Wijmenga C. | 04/1/2009 |
| This study demonstrates the dual regulation of Kir7.1 channel function by PKA and PKC. | 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. | 01/21/2010 |
| Kir7.1 channels are modulated by intracellular protons by diverse mechanisms; H26 is important for channel activation at physiological pH(i) and it influences an unidentified proton-induced inhibitory mechanism. | Modulation of the Kir7.1 potassium channel by extracellular and intracellular pH.
Hughes BA, Swaminathan A. | 01/21/2010 |
| This study confirms the expression of Kir7.1 in human RPE, identifies a Kir7.1 splice variant resulting in predicted changes in protein sequence, and indicates that there is no functional interaction between this splice variant and full-length Kir7.1. | 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., Free PMC Article | 01/21/2010 |
| These results indicate that the KCNJ13 R162W mutation can cause Snowflake vitreoretinal degeneration and further show that vitreoretinal degeneration can arise through mutations in genes whose products are not structural components of the vitreous. | 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., Free PMC Article | 01/21/2010 |