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40 documents found
1: Title: 2q24 deletion in a 9-month old girl with anal atresia, hearing impairment, and hypotonia.
Authors: Zhao, Peiwei, et.al. .
Journal: International journal of pediatric otorhinolaryngology (Int J Pediatr Otorhinolaryngol), Vol. 109, 2018 .
Snippet: including 19 genes (ITGB6; TBR1; SLC4A10; KCNH7 SCN3A; SCN2A et al.).
Affiliation: Clinical Research Center, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science & Technology, China. Department of Neurology, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science & Technology, China; Department of Neurology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, 430016, China. Department of Rehabilitation, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science & Technology, China; Department of Rehabilitation, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, 430016, China. Department of Neurology, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science & Technology, China; Department of Neurology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, 430016, China. Electronic address: liuzsc@126.com. EEG Room, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, 430016, China. Electronic address: setyykfk@163.com. Clinical Research Center, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science & Technology, China. Electronic address: hexuelian2013@hotmail.com. .
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2: Title: Somatic mutations in ZFHX4 gene are associated with poor overall survival of Chinese esophageal squamous cell carcinoma patients.
Authors: Qing, Tao, et.al. .
Journal: Scientific reports (Sci Rep), Vol. 7 (1): 4951, 2017 .
Snippet: Importantly, mutations in ZFHX4, SPHKAP, NRXN1, KIAA1109, DNAH5 and KCNH7 were associated with poor survival.
Affiliation: Center for Pharmacogenomics, School of Pharmacy and Shanghai Cancer Center, Fudan University, Shanghai, China. Collaborative Innovation Center of Genetics and Development, Fudan University, Shanghai, China. Center for Pharmacogenomics, School of Pharmacy and Shanghai Cancer Center, Fudan University, Shanghai, China. yuantingzheng@fudan.edu.cn. Collaborative Innovation Center of Genetics and Development, Fudan University, Shanghai, China. yuantingzheng@fudan.edu.cn. Center for Pharmacogenomics, School of Pharmacy and Shanghai Cancer Center, Fudan University, Shanghai, China. lemingshi@fudan.edu.cn. Collaborative Innovation Center of Genetics and Development, Fudan University, Shanghai, China. lemingshi@fudan.edu.cn. .
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3: Title: Identification of 19 loci for reproductive traits in a local Chinese chicken by genome-wide study.
Authors: Fan, Q C, et.al. .
Journal: Genetics and molecular research : GMR (Genet Mol Res), Vol. 16 (1), 2017 .
Snippet: These SNPs were located near to or in 17 genes including FAM184B, HTT, KCNH7, CDC42BPA, KCNIP4, GJA5, CBFB, and GPC6.
Affiliation: College of Animal Science and Technology, Yangzhou University, Yangzhou, Jiangsu, China. College of Animal Science and Technology, Yangzhou University, Yangzhou, Jiangsu, China gxzhang@yzu.edu.cn. Jiangsu Jinghai Poultry Industry Group CD, LTD, Nantong, Jiangsu, China. .
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4: Title: Activity-regulated cytoskeleton-associated protein predicts response to cognitive remediation among individuals with first-episode psychosis.
Journal: Schizophrenia research (Schizophr Res), Vol. 184, 2017 .
No Abstract available.
Affiliation: Early Psychosis Intervention Center (EPICENTER), Department of Psychiatry and Behavioral Health, The Ohio State University, 1670 Upham Dr, Columbus, OH 43210, USA.; Department of Psychology, The Ohio State University, 1835 Neil Avenue, Columbus, OH 43210, USA. Electronic address: nicholas.breitborde@osumc.edu. Department of Basic Medical Sciences, University of Arizona, 425 N. 5(th) St., Phoenix, AZ 85004, USA. Early Psychosis Intervention Center (EPICENTER), Department of Psychiatry, University of Arizona, 535 N. Wilmot Rd, Tucson, AZ 85711, USA. Department of Psychology, University of Arizona, 1503 E. University Blvd, Tucson, AZ 85721, USA. .
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5: Title: Effects of Temperature on Heteromeric Kv11.1a/1b and Kv11.3 Channels.
Authors: Mauerhöfer, Maike, et.al. .
Journal: Biophysical journal (Biophys J), Vol. 111 (3): 504-23, 2016 .
Snippet: Elevated temperature moved Kv11.1a/1b isochronal activation curves to more negative potentials, but shifted the potential of half-maximal Kv11.3 channel activation to more depolarized values and reduced its voltage sensitivity.
Affiliation: Department of Cellular and Integrative Physiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Department of Cellular and Integrative Physiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address: c.bauer@uke.uni-hamburg.de. .
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6: Title: Activation of hERG3 channel stimulates autophagy and promotes cellular senescence in melanoma.
Authors: Perez-Neut, Mathew, et.al. .
Journal: Oncotarget, Vol. 7 (16): 21991-2004, 2016 .
Snippet: Furthermore, inhibition of autophagy via siRNA targeting AMPK or treatment with hydroxychloroquine an autophagy inhibitor activates apoptosis in NS1643-treated cells.
Affiliation: Department of Molecular Pharmacology & Therapeutics, Loyola University, Chicago, IL-60153, USA. .
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7: Title: Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants.
Authors: Griswold, Anthony J, et.al. .
Journal: Molecular autism (Mol Autism), Vol. 6, 2015 .
Snippet: Finally, gene-based rare variant association implicates genes functioning in excitatory neurotransmission and neurite outgrowth and guidance pathways including CACNAD2, KCNH7, and NRXN1.
Affiliation: John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136 USA. John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136 USA ; Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL 33136 USA. Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44106 USA. Hussman Institute for Autism, Baltimore, MD 21201 USA. .
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8: Title: A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder.
Authors: Strauss, Kevin A, et.al. .
Journal: Human molecular genetics (Hum Mol Genet), Vol. 23 (23): 6395-406, 2014 .
Snippet: KCNH7 c.1181G>A and nine other potentially pathogenic variants were subsequently tested within the ASMAD cohort, which consisted of 340 subjects grouped into controls subjects and affected subjects from overlapping clinical categories (bipolar 1 disorder, bipolar spectrum disorder and any major affective disorder).
Affiliation: Clinic for Special Children, Strasburg, PA, USA, Franklin & Marshall College, Lancaster, PA, USA, Lancaster General Hospital, Lancaster, PA, USA, kstrauss@clinicforspecialchildren.org. Department of Psychiatry, Columbia University, New York, New York, USA. Department of Genetics, Perelman School of Medicine and. Departments of Neuroscience, Psychiatry and Pharmacology, Weill Cornell Medical College of Cornell University, New York, New York, USA. Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, PA, USA and. Department of Physiology, University of Pennsylvania, Philadelphia, PA, USA. Clinic for Special Children, Strasburg, PA, USA, Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, PA, USA and. Clinic for Special Children, Strasburg, PA, USA. Center for Complex Disease Genomics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Clinic for Special Children, Strasburg, PA, USA, Franklin & Marshall College, Lancaster, PA, USA. .
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9: Title: Curculigoside A induces angiogenesis through VCAM-1/Egr-3/CREB/VEGF signaling pathway.
Authors: Kang, Z, et.al. .
Journal: Neuroscience, Vol. 267, 2014 .
Snippet: For studying mechanism, the cAMP response element-binding protein (CREB) inhibitor 2-naphthol-AS-E-phosphate (KG-501), early growth response 3 (Egr-3) siRNA, vascular endothelial growth factor (VEGF) antagonist sFlt-1 and VEGF receptor 2 (VEGFR2) blocker SU-1498 were used.
Affiliation: School of Pharmaceutical Sciences and Institute of Material Medica, Binzhou Medical University, Yantai 264003, PR China. State Key Laboratory of Long-acting and Targeting Drug Delivery Technologies (Luye Pharma Group Limited), Yantai 264003, PR China. School of Pharmaceutical Sciences and Institute of Material Medica, Binzhou Medical University, Yantai 264003, PR China. Electronic address: jwl518@163.com. .
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10: Title: A de novo 2.3 Mb deletion in 2q24.2q24.3 in a 20-month-old developmentally delayed girl.
Authors: Belengeanu, V, et.al. .
Journal: Gene, Vol. 539 (1): 168-72, 2014 .
Snippet: The region deleted in our patient contains 13 genes including PSMD14, TBR1, SLC4A10, DPP4, KCNH7, and FIGN.
Affiliation: Discipline of Medical Genetics, University of Medicine and Pharmacy, Timisoara, Romania. Electronic address: belvtim@yahoo.com. Department of Medical Genetics, University of Oslo, Norway; Department of Medical Genetics, Oslo University Hospital, Norway. Electronic address: t.y.gamage@studmed.uio.no. Discipline of Medical Genetics, University of Medicine and Pharmacy, Timisoara, Romania. Electronic address: sfarcas2004@yahoo.com. Discipline of Medical Genetics, University of Medicine and Pharmacy, Timisoara, Romania. Electronic address: monistoian_dr@yahoo.com. Discipline of Medical Genetics, University of Medicine and Pharmacy, Timisoara, Romania. Electronic address: nicollandreescu@yahoo.com. Discipline of Cellular and Molecular Biology, University of Medicine and Pharmacy, Timisoara, Romania. Electronic address: alinabele@yahoo.com. Department of Medical Genetics, University of Oslo, Norway; Department of Medical Genetics, Oslo University Hospital, Norway. Electronic address: eirik.frengen@medisin.uio.no. Department of Medical Genetics, University of Oslo, Norway; Department of Medical Genetics, Oslo University Hospital, Norway. Electronic address: doriana.misceo@medisin.uio.no. .
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11: Title: Identification of novel loci for bipolar I disorder in a multi-stage genome-wide association study.
Authors: Kuo, P H, et.al. .
Journal: Progress in neuro-psychopharmacology & biological psychiatry (Prog Neuropsychopharmacol Biol Psychiatry), Vol. 51, 2014 .
Snippet: Four genes had empirical P-values<0.05, including KCNH7 (P = 0.0047), MYST4 (P = 0.0047), NRXN3 (P = 0.0095), and SEMA3D (P = 0.037).
Affiliation: Institute of Epidemiology and Preventive Medicine, College of Public Health, National Taiwan University, Taipei, Taiwan; Research Center for Genes, Environment and Human Health, National Taiwan University, Taipei, Taiwan. Electronic address: phkuo@ntu.edu.tw. Department of Nursing, Cardinal Tien College of Healthcare & Management, I-Lan, Taiwan. Institute of Epidemiology and Preventive Medicine, College of Public Health, National Taiwan University, Taipei, Taiwan. Department of Psychiatry, National Taiwan University Hospital, Taipei, Taiwan. Department of Psychiatry, Taipei City Psychiatric Center, Taipei City Hospital, Taipei, Taiwan; Department of Psychiatry, School of Medicine, Taipei Medical University, Taipei, Taiwan. Department of Psychiatry, Taipei City Psychiatric Center, Taipei City Hospital, Taipei, Taiwan. Institute of Molecular Medicine, National Cheng Kung University, Taiwan. Institute of Epidemiology and Preventive Medicine, College of Public Health, National Taiwan University, Taipei, Taiwan; Research Center for Genes, Environment and Human Health, National Taiwan University, Taipei, Taiwan. Department of Psychiatry, National Cheng Kung University Hospital, Tainan, Taiwan. .
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12: Title: The schizophrenia-associated Kv11.1-3.1 isoform results in reduced current accumulation during repetitive brief depolarizations.
Authors: Heide, Juliane, et.al. .
Journal: PloS one, Vol. 7 (9): e45624, 2012 .
Snippet: Recent genome wide association studies identified a brain and primate specific isoform of a voltage-gated potassium channel, referred to as Kv11.1-3.1, which is significantly associated with schizophrenia.
Affiliation: Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia. .
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13: Title: Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
Authors: Demirkan, Ayşe, et.al. .
Journal: PLoS genetics (Plos Genet), Vol. 8 (2): e1002490, 2012 .
Snippet: Among those, 14 loci (KCNH7, AGPAT1, PNLIPRP2, SYT9, FADS1-2-3, DLG2, APOA1, ELOVL2, CDK17, LIPC, PDXDC1, PLD2, LASS4, and APOE) mapped into the glycerophospholipid and 12 loci (ILKAP, ITGA9, AGPAT1, FADS1-2-3, APOA1, PCDH20, LIPC, PDXDC1, SGPP1, APOE, LASS4, and PLD2) to the sphingolipid pathways.
Affiliation: Genetic Epidemiology Unit, Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands. .
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14: Title: Brain-derived neurotrophic factor uses CREB and Egr3 to regulate NMDA receptor levels in cortical neurons.
Authors: Kim, Julia H, et.al. .
Journal: Journal of neurochemistry (J Neurochem), Vol. 120 (2): 210-9, 2012 .
Snippet: BDNF-mediated NR1 transcription depends upon induction of the mitogen-activated protein kinase (MAPK) pathway through activation of the TrK-B receptor.
Affiliation: Laboratory of Translational Epilepsy, Boston University School of Medicine, Boston, Massachusetts, USA. .
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15: Title: Repeated electroconvulsive seizure treatment in rats reduces inducibility of early growth response genes and hyperactivity in response to cocaine administration.
Authors: Park, Hong Geun, et.al. .
Journal: Progress in neuro-psychopharmacology & biological psychiatry (Prog Neuropsychopharmacol Biol Psychiatry), Vol. 35 (4): 1014-21, 2011 .
Snippet: Moreover, E10× pretreatment attenuated the cocaine-induced increase in Egr1, Egr2, and c-fos expression in the rat frontal cortex, whereas phosphorylation of ERK1/2, one of the representative upstream activators of these genes, increased significantly following cocaine treatment.
Affiliation: Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea. .
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16: Title: Study of transcriptional effects in Cis at the IFIH1 locus.
Authors: Zouk, Hana, et.al. .
Journal: PloS one, Vol. 5 (7): e11564, 2010 .
Snippet: The SNP is embedded in a 236 kb linkage disequilibrium (LD) block that includes four genes: IFIH1, GCA, FAP and KCNH7.
Affiliation: Endocrine Genetics Laboratory, McGill University Health Center, Montreal Children's Hospital Research Institute, McGill University, Montreal, Quebec, Canada. .
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17: Title: A team of potassium channels tunes up auditory neurons.
Journal: The Journal of physiology (J Physiol), Vol. 587 (Pt 11): 2417-8, 2009 .
No Abstract available.
Affiliation: Department of Physiology, University of Wisconsin School of Medicine and Public Health, Madison, WI 53706, USA. oertel@physiology.wisc.edu .
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18: Title: Ether-à-go-go-related gene K+ channels contribute to threshold excitability of mouse auditory brainstem neurons.
Authors: Hardman, Rachael M, et.al. .
Journal: The Journal of physiology (J Physiol), Vol. 587 (Pt 11): 2487-97, 2009 .
Snippet: Using whole-cell patch clamp from brainstem slices, the selective ERG antagonist E-4031 reduced action potential (AP) threshold and increased firing on depolarisation.
Affiliation: MRC Toxicology Unit, University of Leicester, Leicester, UK. .
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19: Title: IFIH1-GCA-KCNH7 locus is not associated with genetic susceptibility to multiple sclerosis in French patients.
Authors: Couturier, Nicolas, et.al. .
Journal: European journal of human genetics : EJHG (Eur J Hum Genet), Vol. 17 (6): 844-7, 2009 .
Snippet: A recent investigation reported, for the first time, an association between variants in the IFIH1-GCA-KCNH7 locus and multiple sclerosis (MS).
Affiliation: INSERM U563, and Pôle des neurosciences, Université Toulouse 3, Toulouse, France. .
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20: Title: IFIH1-GCA-KCNH7 locus: influence on multiple sclerosis risk.
Authors: Martínez, Alfonso, et.al. .
Journal: European journal of human genetics : EJHG (Eur J Hum Genet), Vol. 16 (7): 861-4, 2008 .
Snippet: Therefore, genes included in this locus - IFIH1 interferon induced helicase, GCA grancalcin or the potassium channel KCNH7 - are potential candidates implicated in the pathogenesis of these autoimmune diseases, although strong linkage disequilibrium in the region hampered further localization of the etiologic gene.
Affiliation: Department of Immunology, Hospital Universitario San Carlos, Madrid, Spain. .
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