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https://www.readbyqxmd.com/read/28807863/prenatal-diagnosis-of-complex-phenotype-in-a-13-week-old-fetus-with-an-interstitial-multigene-deletion-20q13-13-q13-2-by-chromosomal-microarray
#1
Feodora Stipoljev, Danka Miric-Tesanic, Tomislav Hafner, Maja Barbalic, Monika Logara, Ruzica Lasan-Trcic, Ana Vicic, Romana Gjergja-Juraski
We report the first trimester three-dimensional ultrasonographic findings in a 13-week-old fetus with complex phenotype and a de novo 4.7 Mb multigene deletion encompassing chromosome region 20q13.13-q13.2 detected by chromosomal microarray. Fetal sonography detected radial-ray anomalies in the form of bilateral absence of thumbs and the left club hand deformity. The presence of single atrioventricular canal instead of the atrial septal defect typical for Holt-Oram syndrome pointed us to rather suspect the SALL4 related diseases...
August 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28806457/neurodevelopmental-disorders-caused-by-de-novo-variants-in-kcnb1-genotypes-and-phenotypes
#2
Carolien G F de Kovel, Steffen Syrbe, Eva H Brilstra, Nienke Verbeek, Bronwyn Kerr, Holly Dubbs, Allan Bayat, Sonal Desai, Sakkubai Naidu, Siddharth Srivastava, Hande Cagaylan, Uluc Yis, Carol Saunders, Martin Rook, Susanna Plugge, Hiltrud Muhle, Zaid Afawi, Karl-Martin Klein, Vijayakumar Jayaraman, Ramakrishnan Rajagopalan, Ethan Goldberg, Eric Marsh, Sudha Kessler, Christina Bergqvist, Laura K Conlin, Bryan L Krok, Isabelle Thiffault, Manuela Pendziwiat, Ingo Helbig, Tilman Polster, Ingo Borggraefe, Johannes R Lemke, Marie-José van den Boogaardt, Rikke S Møller, Bobby P C Koeleman
Importance: Knowing the range of symptoms seen in patients with a missense or loss-of-function variant in KCNB1 and how these symptoms correlate with the type of variant will help clinicians with diagnosis and prognosis when treating new patients. Objectives: To investigate the clinical spectrum associated with KCNB1 variants and the genotype-phenotype correlations. Design, Setting, and Participants: This study summarized the clinical and genetic information of patients with a presumed pathogenic variant in KCNB1...
August 14, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28607108/kv2-1-clustering-contributes-to-insulin-exocytosis-and-rescues-human-%C3%AE-cell-dysfunction
#3
Jianyang Fu, Xiaoqing Dai, Gregory Plummer, Kunimasa Suzuki, Austin Bautista, John M Githaka, Laura Senior, Mette Jensen, Dafna Greitzer-Antes, Jocelyn E Manning Fox, Herbert Y Gaisano, Christopher B Newgard, Nicolas Touret, Patrick E MacDonald
Insulin exocytosis is regulated by ion channels that control excitability and Ca(2+) influx. Channels also play an increasingly appreciated role in microdomain structure. In this study, we examine the mechanism by which the voltage-dependent K(+) (Kv) channel Kv2.1 (KCNB1) facilitates depolarization-induced exocytosis in INS 832/13 cells and β-cells from human donors with and without type 2 diabetes (T2D). We find that Kv2.1, but not Kv2.2 (KCNB2), forms clusters of 6-12 tetrameric channels at the plasma membrane and facilitates insulin exocytosis...
July 2017: Diabetes
https://www.readbyqxmd.com/read/28439095/corrigendum-novel-kcnb1-mutation-associated-with-non-syndromic-intellectual-disability
#4
Xénia Latypova, Naomichi Matsumoto, Cécile Vinceslas-Muller, Stéphane Bézieau, Bertrand Isidor, Noriko Miyake
No abstract text is available yet for this article.
April 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28383553/oxidation-of-kcnb1-potassium-channels-triggers-apoptotic-integrin-signaling-in-the-brain
#5
Wei Yu, Manasa Gowda, Yashsavi Sharad, Surindo A Singh, Federico Sesti
Oxidative modification of the voltage-gated potassium (K(+)) channel KCNB1 promotes apoptosis in the neurons of cortex and hippocampus through a signaling pathway mediated by Src tyrosine kinases. How oxidation of the channel is transduced into Src recruitment and activation, however, was not known. Here we show that the apoptotic signal originates from integrins, which form macromolecular complexes with KCNB1 channels. The initial stimulus is transduced to Fyn and possibly other Src family members by focal adhesion kinase (FAK)...
April 6, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28173649/-a-novel-mutation-in-kcnb1-gene-in-a-child-with-neuropsychiatric-comorbidities-with-both-intellectual-disability-and-epilepsy-and-review-of-literature
#6
REVIEW
P Miao, J Peng, C Chen, N Gai, F Yin
Objective: To explore the association between the phenotype and KCNB1 gene mutation. Method: Clinical information including physical features, laboratory and genetic data of one patient of mental retardation with refractory epilepsy from Department of Pediatrics, Xiangya Hospital in January 2016 was analyzed. This patient was discovered to have KCNB1 gene mutations through whole exome sequencing. Relevant information about KCNB1 gene mutation was searched and collected from Pubmed, CNKI, Human Gene Mutation Database(HGMD) and Online Mendelian Inheritance in Man(OMIM)...
February 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28144039/role-of-kcnb1-in-the-prognosis-of-gliomas-and-autophagy-modulation
#7
Hao-Yuan Wang, Wen Wang, Yan-Wei Liu, Ming-Yang Li, Ting-Yu Liang, Ji-Ye Li, Hui-Min Hu, Yang Lu, Chen Yao, Yong-Yi Ye, Yong-Zhi Wang, Shi-Zhong Zhang
Increasing evidence suggests that ion channel genes play an important role in the progression of gliomas. However, the mechanisms by which ion channel genes influence the progression of glioma are not fully understood. We identified KCNB1 as a novel ion gene, associated with malignant progression and favorable overall survival (OS) and progression-free survival (PFS) in glioma patients from three datasets (CGGA, GSE16011 and REMBRANDT). Moreover, we characterized a novel function of autophagy induction accompanied by increased apoptosis and reduced proliferation and invasion of glioma cells for KCNB1...
February 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/27928161/novel-kcnb1-mutation-associated-with-non-syndromic-intellectual-disability
#8
Xénia Latypova, Naomichi Matsumoto, Cécile Vinceslas-Muller, Stéphane Bézieau, Bertrand Isidor, Noriko Miyake
Potassium voltage-gated channel subfamily B member 1 (KCNB1) encodes Kv2.1 potassium channel of crucial role in hippocampal neuron excitation homeostasis. KCNB1 mutations are known to cause early-onset infantile epilepsy. To date, 10 KCNB1 mutations have been described in 11 patients. Using whole-exome sequencing, we identified a novel de novo missense (c.1132G>C, p.V378L) KCNB1 mutation in a patient with global developmental delay, intellectual disability, severe speech impairment, but no episode of epilepsy until the lastly examined age of 6 years old...
April 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/27798188/oxidation-of-kcnb1-potassium-channels-causes-neurotoxicity-and-cognitive-impairment-in-a-mouse-model-of-traumatic-brain-injury
#9
Wei Yu, Randika Parakramaweera, Shavonne Teng, Manasa Gowda, Yashsavi Sharad, Smita Thakker-Varia, Janet Alder, Federico Sesti
The delayed rectifier potassium (K(+)) channel KCNB1 (Kv2.1), which conducts a major somatodendritic current in cortex and hippocampus, is known to undergo oxidation in the brain, but whether this can cause neurodegeneration and cognitive impairment is not known. Here, we used transgenic mice harboring human KCNB1 wild-type (Tg-WT) or a nonoxidable C73A mutant (Tg-C73A) in cortex and hippocampus to determine whether oxidized KCNB1 channels affect brain function. Animals were subjected to moderate traumatic brain injury (TBI), a condition characterized by extensive oxidative stress...
October 26, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27729411/functional-antagonism-of-voltage-gated-k-channel-%C3%AE-subunits-in-the-developing-brain-ventricular-system
#10
Hongyuan Shen, Elke Bocksteins, Igor Kondrychyn, Dirk Snyders, Vladimir Korzh
The brain ventricular system is essential for neurogenesis and brain homeostasis. Its neuroepithelial lining effects these functions, but the underlying molecular pathways remain to be understood. We found that the potassium channels expressed in neuroepithelial cells determine the formation of the ventricular system. The phenotype of a novel zebrafish mutant characterized by denudation of neuroepithelial lining of the ventricular system and hydrocephalus is mechanistically linked to Kcng4b, a homologue of the 'silent' voltage-gated potassium channel α-subunit Kv6...
November 15, 2016: Development
https://www.readbyqxmd.com/read/27713134/a-three-ion-channel-genes-based-signature-predicts-prognosis-of-primary-glioblastoma-patients-and-reveals-a-chemotherapy-sensitive-subtype
#11
Hao-Yuan Wang, Ji-Ye Li, Xiu Liu, Xiao-Yan Yan, Wen Wang, Fan Wu, Ting-Yu Liang, Fan Yang, Hui-Min Hu, Heng-Xu Mao, Yan-Wei Liu, Shi-Zhong Zhang
Increasing evidence suggests that ion channels not only regulate electric signaling in excitable cells but also play important roles in the development of brain tumor. However, the roles of ion channels in glioma remain controversial. In the present study, we systematically analyzed the expression patterns of ion channel genes in a cohort of Chinese patients with glioma using RNAseq expression profiling. First, a molecular signature comprising three ion channel genes (KCNN4, KCNB1 and KCNJ10) was identified using Univariate Cox regression and two-tailed student's t test conducted in overall survival (OS) and gene expression...
November 15, 2016: Oncotarget
https://www.readbyqxmd.com/read/27652284/targeted-sequencing-of-351-candidate-genes-for-epileptic-encephalopathy-in-a-large-cohort-of-patients
#12
Carolien G F de Kovel, Eva H Brilstra, Marjan J A van Kempen, Ruben Van't Slot, Isaac J Nijman, Zaid Afawi, Peter De Jonghe, Tania Djémié, Renzo Guerrini, Katia Hardies, Ingo Helbig, Rik Hendrickx, Moine Kanaan, Uri Kramer, Anna-Elina E Lehesjoki, Johannes R Lemke, Carla Marini, Davide Mei, Rikke S Møller, Manuela Pendziwiat, Hannah Stamberger, Arvid Suls, Sarah Weckhuysen, Bobby P C Koeleman
BACKGROUND: Many genes are candidates for involvement in epileptic encephalopathy (EE) because one or a few possibly pathogenic variants have been found in patients, but insufficient genetic or functional evidence exists for a definite annotation. METHODS: To increase the number of validated EE genes, we sequenced 26 known and 351 candidate genes for EE in 360 patients. Variants in 25 genes known to be involved in EE or related phenotypes were followed up in 41 patients...
September 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27114846/oxidation-of-k-channels-in-aging-and-neurodegeneration
#13
REVIEW
Federico Sesti
Reversible regulation of proteins by reactive oxygen species (ROS) is an important mechanism of neuronal plasticity. In particular, ROS have been shown to act as modulatory molecules of ion channels-which are key to neuronal excitability-in several physiological processes. However ROS are also fundamental contributors to aging vulnerability. When the level of excess ROS increases in the cell during aging, DNA is damaged, proteins are oxidized, lipids are degraded and more ROS are produced, all culminating in significant cell injury...
March 2016: Aging and Disease
https://www.readbyqxmd.com/read/26962151/twenty-eight-genetic-loci-associated-with-st-t-wave-amplitudes-of-the-electrocardiogram
#14
Niek Verweij, Irene Mateo Leach, Aaron Isaacs, Dan E Arking, Joshua C Bis, Tune H Pers, Marten E Van Den Berg, Leo-Pekka Lyytikäinen, Phil Barnett, Xinchen Wang, Elsayed Z Soliman, Cornelia M Van Duijn, Mika Kähönen, Dirk J Van Veldhuisen, Jan A Kors, Olli T Raitakari, Claudia T Silva, Terho Lehtimäki, Hans L Hillege, Joel N Hirschhorn, Laurie A Boyer, Wiek H Van Gilst, Alvaro Alonso, Nona Sotoodehnia, Mark Eijgelsheim, Rudolf A De Boer, Paul I W De Bakker, Lude Franke, Pim Van Der Harst
The ST-segment and adjacent T-wave (ST-T wave) amplitudes of the electrocardiogram are quantitative characteristics of cardiac repolarization. Repolarization abnormalities have been linked to ventricular arrhythmias and sudden cardiac death. We performed the first genome-wide association meta-analysis of ST-T-wave amplitudes in up to 37 977 individuals identifying 71 robust genotype-phenotype associations clustered within 28 independent loci. Fifty-four genes were prioritized as candidates underlying the phenotypes, including genes with established roles in the cardiac repolarization phase (SCN5A/SCN10A, KCND3, KCNB1, NOS1AP and HEY2) and others with as yet undefined cardiac function...
May 15, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/26648591/unexplained-early-onset-epileptic-encephalopathy-exome-screening-and-phenotype-expansion
#15
Nicholas M Allen, Judith Conroy, Amre Shahwan, Bryan Lynch, Raony G Correa, Sergio D J Pena, Dara McCreary, Tiago R Magalhães, Sean Ennis, Sally A Lynch, Mary D King
Early onset epileptic encephalopathies (EOEEs) represent a significant diagnostic challenge. Newer genomic approaches have begun to elucidate an increasing number of responsible single genes as well as emerging diagnostic strategies. In this single-center study, we aimed to investigate a cohort of children with unexplained EOEE. We performed whole-exome sequencing (WES), targeting a list of 137 epilepsy-associated genes on 50 children with unexplained EOEE. We characterized all phenotypes in detail and classified children according to known electroclinical syndromes where possible...
January 2016: Epilepsia
https://www.readbyqxmd.com/read/26545729/erratum-to-association-of-kcnb1-polymorphisms-with-lipid-metabolisms-and-insulin-resistance-a-case-control-design-of-population-based-cross-sectional-study-in-chinese-han-population
#16
Yuncui Yu, Jing Wang, Ruiying Kang, Jing Dong, Yuxiang Zhang, Fen Liu, Yuxiang Yan, Rong Zhu, Lili Xia, Xiaoxia Peng, Ling Zhang, Dian He, Herbert Y Gaisano, Zhenwen Chen, Yan He
No abstract text is available yet for this article.
2015: Lipids in Health and Disease
https://www.readbyqxmd.com/read/26503721/a-novel-epileptic-encephalopathy-mutation-in-kcnb1-disrupts-kv2-1-ion-selectivity-expression-and-localization
#17
Isabelle Thiffault, David J Speca, Daniel C Austin, Melanie M Cobb, Kenneth S Eum, Nicole P Safina, Lauren Grote, Emily G Farrow, Neil Miller, Sarah Soden, Stephen F Kingsmore, James S Trimmer, Carol J Saunders, Jon T Sack
The epileptic encephalopathies are a group of highly heterogeneous genetic disorders. The majority of disease-causing mutations alter genes encoding voltage-gated ion channels, neurotransmitter receptors, or synaptic proteins. We have identified a novel de novo pathogenic K+ channel variant in an idiopathic epileptic encephalopathy family. Here, we report the effects of this mutation on channel function and heterologous expression in cell lines. We present a case report of infantile epileptic encephalopathy in a young girl, and trio-exome sequencing to determine the genetic etiology of her disorder...
November 2015: Journal of General Physiology
https://www.readbyqxmd.com/read/26405173/binding-loci-of-rela-containing-nuclear-factor-kappab-dimers-in-promoter-regions-of-phm1-31-myometrial-smooth-muscle-cells
#18
Victoria J Cookson, Sarah L Waite, Paul R Heath, Paul J Hurd, Saurabh V Gandhi, Neil R Chapman
Human parturition is associated with many pro-inflammatory mediators which are regulated by the nuclear factor-kappaB (NF-κB) family of transcription factors. In the present study, we employed a ChIP-on-chip approach to define genomic loci within chromatin of PHM1-31 myometrial cells that were occupied by RelA-containing NF-κB dimers in response to a TNF stimulation of 1 h. In TNF-stimulated PHM1-31 cells, anti-RelA serum enriched 13 300 chromatin regions; importantly, 11 110 regions were also enriched by anti-RelA antibodies in the absence of TNF...
November 2015: Molecular Human Reproduction
https://www.readbyqxmd.com/read/26377690/association-of-kcnb1-polymorphisms-with-lipid-metabolisms-and-insulin-resistance-a-case-control-design-of-population-based-cross-sectional-study-in-chinese-han-population
#19
Yuncui Yu, Jing Wang, Ruiying Kang, Jing Dong, Yuxiang Zhang, Fen Liu, Yuxiang Yan, Rong Zhu, Lili Xia, Xiaoxia Peng, Ling Zhang, Dian He, Herbert Y Gaisano, Gaisano Herbert, Zhenwen Chen, Yan He
BACKGROUND: In our previous study, we had assessed in the Chinese Han population the association of KCNB1 rs1051295 with metabolic traits indicating metabolic syndrome, and showed that KCNB1 rs1051295 genotype TT was associated with increase of waist to hip ratio (WHR), fasting insulin (FINS), triglycerides (TG) and decreased insulin sensitivity at basal condition. Here, we aimed at detecting whether there were associations between other tag SNPs of KCNB1 and favorable or unfavorable metabolic traits...
2015: Lipids in Health and Disease
https://www.readbyqxmd.com/read/26240432/amigo-kv2-1-potassium-channel-complex-is-associated-with-schizophrenia-related-phenotypes
#20
Marjaana A Peltola, Juha Kuja-Panula, Johanna Liuhanen, Vootele Võikar, Petteri Piepponen, Tero Hiekkalinna, Tomi Taira, Sari E Lauri, Jaana Suvisaari, Natalia Kulesskaya, Tiina Paunio, Heikki Rauvala
The enormous variability in electrical properties of neurons is largely affected by a multitude of potassium channel subunits. Kv2.1 is a widely expressed voltage-dependent potassium channel and an important regulator of neuronal excitability. The Kv2.1 auxiliary subunit AMIGO constitutes an integral part of the Kv2.1 channel complex in brain and regulates the activity of the channel. AMIGO and Kv2.1 localize to the distinct somatodendritic clusters at the neuronal plasma membrane. Here we have created and characterized a mouse line lacking the AMIGO gene...
January 2016: Schizophrenia Bulletin
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