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https://www.readbyqxmd.com/read/30022023/the-potassium-channel-kcnj13-is-essential-for-smooth-muscle-cytoskeletal-organization-during-mouse-tracheal-tubulogenesis
#1
Wenguang Yin, Hyun-Taek Kim, ShengPeng Wang, Felix Gunawan, Lei Wang, Keishi Kishimoto, Hua Zhong, Dany Roman, Jens Preussner, Stefan Guenther, Viola Graef, Carmen Buettner, Beate Grohmann, Mario Looso, Mitsuru Morimoto, Graeme Mardon, Stefan Offermanns, Didier Y R Stainier
Tubulogenesis is essential for the formation and function of internal organs. One such organ is the trachea, which allows gas exchange between the external environment and the lungs. However, the cellular and molecular mechanisms underlying tracheal tube development remain poorly understood. Here, we show that the potassium channel KCNJ13 is a critical modulator of tracheal tubulogenesis. We identify Kcnj13 in an ethylnitrosourea forward genetic screen for regulators of mouse respiratory organ development. Kcnj13 mutants exhibit a shorter trachea as well as defective smooth muscle (SM) cell alignment and polarity...
July 19, 2018: Nature Communications
https://www.readbyqxmd.com/read/30009826/conditional-loss-of-kcnj13-in-the-retinal-pigment-epithelium-causes-photoreceptor-degeneration
#2
Dany Roman, Hua Zhong, Sergey Yaklichkin, Rui Chen, Graeme Mardon
The retina is the light sensing tissue of the eye which contains multiple layers of cells required for the detection and transmission of a visual signal. Loss of the light-sensing photoreceptors leads to defects in visual function and blindness. Previously, we found that mosaic deletion of Kcnj13, and subsequent loss of the potassium channel Kir7.1, in mice leads to photoreceptor degeneration and recapitulates the human retinal disease phenotype (Zhong et al., 2015). Kcnj13 expression in the retinal pigment epithelium (RPE) is essential for normal retinal electrophysiology, function, and survival...
July 25, 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/29772553/establishment-of-a-porcine-model-of-indomethacin-induced-intestinal-injury
#3
Dan Yi, Wenkai Liu, Yongqing Hou, Lei Wang, Di Zhao, Tao Wu, Binying Ding, Guoyao Wu
A useful animal model of intestinal injury is pivotal for studying its pathogenesis and developing nutritional interventions (e.g., amino acid supplementation). Here, we propose the use of indomethacin (IDMT) to induce intestinal inflammation in neonatal pigs. Fourteen-day-old piglets fed a milk replacer diet receive intraperitoneal administration of IDMT (5 mg/kg body weight) for 3 consecutive days. On day 4, blood and intestinal samples are obtained for physiological and biochemical analyses. IDMT increases blood DAO activity, I-FABP concentration, neutrophil and eosinophil numbers; intestinal MMP3 mRNA levels, MPO activity, and MDA concentration; but reduces the plasma concentration of citrulline (synthesized exclusively by enterocytes of the small intestine), intestinal GSH-Px activity, and mRNA levels for villin , I-FABP , TRPV6 , AQP10 , and KCNJ13 ...
June 1, 2018: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/29740340/tissue-distribution-of-kir7-1-inwardly-rectifying-k-channel-probed-in-a-knock-in-mouse-expressing-a-haemagglutinin-tagged-protein
#4
Isabel Cornejo, Sandra Villanueva, Johanna Burgos, Karen I López-Cayuqueo, Régine Chambrey, Francisca Julio-Kalajzić, Neudo Buelvas, María I Niemeyer, Dulce Figueiras-Fierro, Peter D Brown, Francisco V Sepúlveda, L P Cid
Kir7.1 encoded by the Kcnj13 gene in the mouse is an inwardly rectifying K+ channel present in epithelia where it shares membrane localization with the Na+ /K+ -pump. Further investigations of the localisation and function of Kir7.1 would benefit from the availability of a knockout mouse, but perinatal mortality attributed to cleft palate in the neonate has thwarted this research. To facilitate localisation studies we now use CRISPR/Cas9 technology to generate a knock-in mouse, the Kir7.1-HA that expresses the channel tagged with a haemagglutinin (HA) epitope...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/29187713/injury-and-mechanism-of-recombinant-e-coli-expressing-sta-on-piglets-colon
#5
Yang Lv, Xueni Li, Lin Zhang, Yutao Shi, Linxiao DU, Binying Ding, Yongqing Hou, Joshua Gong, Tao Wu
Enterotoxigenic Escherichia coli (ETEC) is primary pathogenic bacteria of piglet diarrhea, over two thirds of piglets diarrhea caused by ETEC are resulted from STa-producing ETEC strains. This experiment was conducted to construct the recombinant E. coli expressing STa and study the injury and mechanism of recombinant E. coli expressing STa on 7 days old piglets colon. Twenty-four 7 days old piglets were allotted to four treatments: control group, STa group (2 × 109 CFU E. coli LMG194-STa), LMG194 group (2 × 109 CFU E...
February 9, 2018: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/28878288/abnormal-electroretinogram-after-kir7-1-channel-suppression-suggests-role-in-retinal-electrophysiology
#6
Pawan K Shahi, Xinling Liu, Bryce Aul, Andrea Moyer, Akshita Pattnaik, Jerod Denton, De-Ann M Pillers, Bikash R Pattnaik
The KCNJ13 gene encodes the inwardly rectifying potassium channel, Kir7.1. Mutations in this gene cause childhood blindness, in which the a- and b-wave responses of electroretinogram (ERG) are abolished. The ERG a-wave is the light-induced hyperpolarization of retinal photoreceptors, and the b-wave is the depolarization of ON-bipolar cells. The Kir7.1 channel is localized to the apical aspects of retinal pigment epithelium (RPE) cells and contributes to a delayed c-wave response. We sought to understand why a defect in an RPE ion-channel result in abnormal electrophysiology at the level of the retinal neurons...
September 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28025236/otx2-defines-a-subgroup-of-atypical-teratoid-rhabdoid-tumors-with-close-relationship-to-choroid-plexus-tumors
#7
Anna Sophia Japp, Ludger Klein-Hitpass, Dorota Denkhaus, Torsten Pietsch
Atypical teratoid rhabdoid tumors (ATRT) are highly malignant brain tumors of early childhood that have been regarded as a homogenous entity characterized by inactivation of the SMARCB1/INI1 or SMARCA4/BRG1 genes as the only characteristic alteration. Recent studies suggest that similar to other embryonal tumors ATRT can also be divided into subgroups based on their mRNA or methylation profiles. Using microarray-based expression analysis of 12 patient ATRT specimens we demonstrated the existence of 2 subgroups of ATRT...
January 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/27203561/leber-congenital-amaurosis-with-large-retinal-pigment-clumps-caused-by-compound-heterozygous-mutations-in-kcnj13
#8
Sarah Perez-Roustit, Virginie Marquette, Béatrice Bocquet, Josseline Kaplan, Isabelle Perrault, Isabelle Meunier, Christian P Hamel
PURPOSE: To describe a patient with mutations in KCNJ13 presenting particular clinical features. METHODS: Standard ophthalmic examination, fundus autofluorescence, spectral domain optical coherence tomography, full-field electroretinography. The 3 exons of KCNJ13 were polymerase chain reaction amplified and Sanger sequenced. PATIENTS: A 31-year-old man with Leber congenital amaurosis. RESULTS: Patient had nystagmus since childhood, best-corrected visual acuity limited to 20/400 OD and 20/200 OS, and had cataracts extracted in both eyes...
July 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/27184474/ml418-the-first-selective-sub-micromolar-pore-blocker-of-kir7-1-potassium-channels
#9
Daniel R Swale, Haruto Kurata, Sujay V Kharade, Jonathan Sheehan, Rene Raphemot, Karl R Voigtritter, Eric E Figueroa, Jens Meiler, Anna L Blobaum, Craig W Lindsley, Corey R Hopkins, Jerod S Denton
The inward rectifier potassium (Kir) channel Kir7.1 (KCNJ13) has recently emerged as a key regulator of melanocortin signaling in the brain, electrolyte homeostasis in the eye, and uterine muscle contractility during pregnancy. The pharmacological tools available for exploring the physiology and therapeutic potential of Kir7.1 have been limited to relatively weak and nonselective small-molecule inhibitors. Here, we report the discovery in a fluorescence-based high-throughput screen of a novel Kir7.1 channel inhibitor, VU714...
July 20, 2016: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/26402555/cleft-palate-moderate-lung-developmental-retardation-and-early-postnatal-lethality-in-mice-deficient-in-the-kir7-1-inwardly-rectifying-k-channel
#10
Sandra Villanueva, Johanna Burgos, Karen I López-Cayuqueo, Ka-Man Venus Lai, David M Valenzuela, L Pablo Cid, Francisco V Sepúlveda
Kir7.1 is an inwardly rectifying K+ channel of the Kir superfamily encoded by the kcnj13 gene. Kir7.1 is present in epithelial tissues where it colocalizes with the Na+/K+-pump probably serving to recycle K+ taken up by the pump. Human mutations affecting Kir7.1 are associated with retinal degeneration diseases. We generated a mouse lacking Kir7.1 by ablation of the Kcnj13 gene. Homozygous mutant null mice die hours after birth and show cleft palate and moderate retardation in lung development. Kir7.1 is expressed in the epithelium covering the palatal processes at the time at which palate sealing takes place and our results suggest it might play an essential role in late palatogenesis...
2015: PloS One
https://www.readbyqxmd.com/read/26177189/erratum-crispr-engineered-mosaicism-rapidly-reveals-that-loss-of-kcnj13-function-in-mice-mimics-human-disease-phenotypes
#11
Hua Zhong, Yiyun Chen, Yumei Li, Rui Chen, Graeme Mardon
No abstract text is available yet for this article.
2015: Scientific Reports
https://www.readbyqxmd.com/read/25921210/a-novel-kcnj13-nonsense-mutation-and-loss-of-kir7-1-channel-function-causes-leber-congenital-amaurosis-lca16
#12
Bikash R Pattnaik, Pawan K Shahi, Meghan J Marino, Xinying Liu, Nathaniel York, Simran Brar, John Chiang, De-Ann M Pillers, Elias I Traboulsi
Mutations in the KCNJ13 gene that encodes the inwardly rectifying potassium channel Kir7.1 cause snowflake vitreoretinal degeneration (SVD) and leber congenital amaurosis (LCA). Kir7.1 controls the microenvironment between the photoreceptors and the retinal pigment epithelium (RPE) and also contributes to the function of other organs such as uterus and brain. Heterologous expressions of the mutant channel have suggested a dominant-negative loss of Kir7.1 function in SVD, but parallel studies in LCA16 have been lacking...
July 2015: Human Mutation
https://www.readbyqxmd.com/read/25666713/crispr-engineered-mosaicism-rapidly-reveals-that-loss-of-kcnj13-function-in-mice-mimics-human-disease-phenotypes
#13
Hua Zhong, Yiyun Chen, Yumei Li, Rui Chen, Graeme Mardon
The era of genomics has demanded the development of more efficient and timesaving approaches to validate gene function in disease. Here, we utilized the CRISPR-Cas9 system to generate Kcnj13 mutant mice by zygote injection to verify the pathogenic role of human KCNJ13, mutations of which are thought to cause Leber congenital amaurosis (LCA), an early-onset form of blindness. We found that complete loss of Kcnj13 is likely postnatal lethal. Among surviving F0-generation mice examined, 80% show mosaic KCNJ13 expression in the retinal pigment epithelium (RPE)...
2015: Scientific Reports
https://www.readbyqxmd.com/read/25475713/a-distinct-vitreo-retinal-dystrophy-with-early-onset-cataract-from-recessive-kcnj13-mutations
#14
Arif O Khan, Carsten Bergmann, Christine Neuhaus, Hanno J Bolz
PURPOSE: To document a distinct vitreo-retinal dystrophy with early-onset cataract as related to recessive KCNJ13 mutations. METHODS: A retrospective case series (two patients from two families) Results: A 12-year-old Saudi Arabian girl with nystagmus since birth was referred because of recent decreased vision. Parents were first cousins and a younger sister had been diagnosed with retinal dystrophy. Examination revealed total white cataract in the right eye. In the left eye, there were posterior cortical lenticular opacities and an unusual retina fundus dystrophic appearance notable for fibrosis over the optic disc and clumped pigmentation...
March 2015: Ophthalmic Genetics
https://www.readbyqxmd.com/read/23421592/systematic-analysis-of-palatal-transcriptome-to-identify-cleft-palate-genes-within-tgf%C3%AE-3-knockout-mice-alleles-rna-seq-analysis-of-tgf%C3%AE-3-mice
#15
Ferhat Ozturk, You Li, Xiujuan Zhu, Chittibabu Guda, Ali Nawshad
BACKGROUND: In humans, cleft palate (CP) accounts for one of the largest number of birth defects with a complex genetic and environmental etiology. TGFβ3 has been established as an important regulator of palatal fusion in mice and it has been shown that TGFβ3-null mice exhibit CP without any other major deformities. However, the genes that regulate cellular decisions and molecular mechanisms maintained by the TGFβ3 pathway throughout palatogenesis are predominantly unexplored. Our objective in this study was to analyze global transcriptome changes within the palate during different gestational ages within TGFβ3 knockout mice to identify TGFβ3-associated genes previously unknown to be associated with the development of cleft palate...
2013: BMC Genomics
https://www.readbyqxmd.com/read/23255580/characterization-of-the-r162w-kir7-1-mutation-associated-with-snowflake-vitreoretinopathy
#16
Wei Zhang, Xiaoming Zhang, Hui Wang, Anil K Sharma, Albert O Edwards, Bret A Hughes
KCNJ13 encodes Kir7.1, an inwardly rectifying K(+) channel that is expressed in multiple ion-transporting epithelia. A mutation in KCNJ13 resulting in an arginine-to-tryptophan change at residue 162 (R162W) of Kir7.1 was associated with snowflake vitreoretinal degeneration, an inherited autosomal-dominant disease characterized by vitreous degeneration and mild retinal degeneration. We used the Xenopus laevis oocyte expression system to assess the functional properties of the R162W (mutant) Kir7.1 channel and determine how wild-type (WT) Kir7...
March 1, 2013: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/21763485/recessive-mutations-in-kcnj13-encoding-an-inwardly-rectifying-potassium-channel-subunit-cause-leber-congenital-amaurosis
#17
Panagiotis I Sergouniotis, Alice E Davidson, Donna S Mackay, Zheng Li, Xu Yang, Vincent Plagnol, Anthony T Moore, Andrew R Webster
Inherited retinal degenerations, including retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), comprise a group of disorders showing high genetic and allelic heterogeneity. The determination of a full catalog of genes that can, when mutated, cause human retinal disease is a powerful means to understand the molecular physiology and pathology of the human retina. As more genes are found, remaining ones are likely to be rarer and/or unexpected candidates. Here, we identify a family in which all known RP/LCA-related genes are unlikely to be associated with their disorder...
July 15, 2011: American Journal of Human Genetics
https://www.readbyqxmd.com/read/21695113/a-systems-level-functional-genomics-analysis-of-chronic-epilepsy
#18
Kellen D Winden, Stanislav L Karsten, Anatol Bragin, Lili C Kudo, Lauren Gehman, Josephine Ruidera, Daniel H Geschwind, Jerome Engel
Neither the molecular basis of the pathologic tendency of neuronal circuits to generate spontaneous seizures (epileptogenicity) nor anti-epileptogenic mechanisms that maintain a seizure-free state are well understood. Here, we performed transcriptomic analysis in the intrahippocampal kainate model of temporal lobe epilepsy in rats using both Agilent and Codelink microarray platforms to characterize the epileptic processes. The experimental design allowed subtraction of the confounding effects of the lesion, identification of expression changes associated with epileptogenicity, and genes upregulated by seizures with potential homeostatic anti-epileptogenic effects...
2011: PloS One
https://www.readbyqxmd.com/read/18367426/evaluation-of-susceptibility-loci-in-an-extended-pedigree-with-idiopathic-generalized-epilepsy
#19
Karl Martin Klein, Regina Preisig-Müller, Susanne Knake, Hajo M Hamer, Wolfgang H Oertel, Bernd A Neubauer, Jürgen Daut, Felix Rosenow
PURPOSE: Evaluation of the loci 2q36, 3q26, 5q34 and 14q23 in a German family with autosomal dominant idiopathic generalized epilepsy (IGE). METHODS: A linkage analysis was performed including 10 family members (six affected, three unaffected, one probably affected), for the loci 2q36, 3q26, 5q34 and 14q23. Subsequently, a sequence analysis of the inward rectifier potassium channel gene KCNJ13 at 2q37 was carried out. RESULTS: Suggestive linkage for IGE was found on 2q36-37 at D2S2308 and D2S2193...
March 2008: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/18309337/clinical-features-of-the-congenital-vitreoretinopathies
#20
REVIEW
A O Edwards
The inherited vitreoretinal degenerations or vitreoretinopathies are characterized by congenital and acquired disorders of the eye including early onset cataract, anomalies of the vitreous manifesting as optically empty vitreous, course fibrils, and membranes, and retinal detachment. These diseases include Stickler syndrome types I (STL1) and II (STL2), usually caused by mutations in COL2A1 and COL11A1 respectively. Wagner syndrome (WGN1) is associated with mutations in versican (CSPG2) and snowflake vitreoretinal degeneration (SVD) with a mutation in a potassium channel (KCNJ13)...
October 2008: Eye
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