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https://www.readbyqxmd.com/read/28624280/technical-note-evaluation-of-endogenous-control-gene-expression-in-bovine-neutrophils-by-reverse-transcription-quantitative-pcr-using-microfluidics-gene-expression-arrays
#1
M A Crookenden, C G Walker, B Kuhn-Sherlock, A Murray, V S R Dukkipati, A Heiser, J R Roche
Reverse-transcription quantitative-PCR (RT-qPCR) is commonly used for assessing the cellular response to changes in physiologic and pathologic conditions. The selection of stable endogenous control genes is an important step of any RT-qPCR study, as expression can vary depending on the experimental environment. Our objective was to identify endogenous control genes in circulating neutrophils isolated from cows during the peripartum period. To do this, we used microfluidics gene expression arrays (Fluidigm, San Francisco, CA) for RT-qPCR analysis...
June 14, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28596578/transgenic-overexpression-of-gtp-cyclohydrolase-1-in-cardiomyocytes-ameliorates-post-infarction-cardiac-remodeling
#2
Yanan Liu, Shelley L Baumgardt, Juan Fang, Yang Shi, Shigang Qiao, Zeljko J Bosnjak, Jeannette Vásquez-Vivar, Zhengyuan Xia, David C Warltier, Judy R Kersten, Zhi-Dong Ge
GTP cyclohydrolase 1 (GCH1) and its product tetrahydrobiopterin play crucial roles in cardiovascular health and disease, yet the exact regulation and role of GCH1 in adverse cardiac remodeling after myocardial infarction are still enigmatic. Here we report that cardiac GCH1 is degraded in remodeled hearts after myocardial infarction, concomitant with increases in the thickness of interventricular septum, interstitial fibrosis, and phosphorylated p38 mitogen-activated protein kinase and decreases in left ventricular anterior wall thickness, cardiac contractility, tetrahydrobiopterin, the dimers of nitric oxide synthase, sarcoplasmic reticulum Ca(2+) release, and the expression of sarcoplasmic reticulum Ca(2+) handling proteins...
June 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28596000/the-nrf2-gch1-bh4-axis-ameliorates-radiation-induced-skin-injury-by-modulating-the-ros-cascade
#3
Jiao Xue, Chenxiao Yu, Wenjiong Sheng, Wei Zhu, Judong Luo, Qi Zhang, Hongying Yang, Han Cao, Wenjie Wang, Jundong Zhou, Jinchang Wu, Peng Cao, Ming Chen, Wei-Qun Ding, Jianping Cao, Shuyu Zhang
Radiation-induced skin injury is a common side effect of radiotherapy and can limit the duration and dose of radiotherapy. Most early work focused on elimination of reactive oxygen species (ROS) after radiation, however, less is known about the mechanisms underlying amplification of ROS and consequent skin injury by radiation. 5,6,7,8-tetrahydrobiopterin (BH4) is an essential co-factor for all nitric oxide synthases (NOSs). Inadequate availability of BH4 leads to uncoupling of NOSs and production of highly oxidative radicals...
June 5, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28585439/gch1-plays-a-role-in-the-high-altitude-adaptation-of-tibetans
#4
Yong-Bo Guo, Yao-Xi He, Chao-Ying Cui, Luobu Ouzhu, Kangzhuo Baima, Zhuoma Duoji, Quzong Deji, Ba Bian, Yi Peng, Cai-Juan Bai, Lanzi Gongga, Yong-Yue Pan, la Qu, Min Kang, Yangji Ciren, Yangji Baima, Wei Guo, la Yang, Hui Zhang, Xiao-Ming Zhang, Wang-Shan Zheng, Shu-Hua Xu, Hua Chen, Sheng-Guo Zhao, Yuan Cai, Shi-Ming Liu, Tian-Yi Wu, Xue-Bin Qi, Bing Su
Tibetans are well adapted to high-altitude hypoxia. Previous genome-wide scans have reported many candidate genes for this adaptation, but only a few have been studied. Here we report on a hypoxia gene ( GCH1, GTP-cyclohydrolase I), involved in maintaining nitric oxide synthetase (NOS) function and normal blood pressure, that harbors many potentially adaptive variants in Tibetans. We resequenced an 80.8 kb fragment covering the entire gene region of GCH1 in 50 unrelated Tibetans. Combined with previously published data, we demonstrated many GCH1 variants showing deep divergence between highlander Tibetans and lowlander Han Chinese...
May 18, 2017: Zoological Research
https://www.readbyqxmd.com/read/28582483/rare-gch1-heterozygous-variants-contributing-to-parkinson-s-disease
#5
Qian Xu, Kai Li, Qiying Sun, Dongxue Ding, Yuwen Zhao, Nannan Yang, Yang Luo, Zhenhua Liu, Yuan Zhang, Chunrong Wang, Kun Xia, Xinxiang Yan, Hong Jiang, Lu Shen, Beisha Tang, Jifeng Guo
No abstract text is available yet for this article.
June 3, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28558098/complex-and-dynamic-chromosomal-rearrangements-in-a-family-with-seemingly-non-mendelian-inheritance-of-dopa-responsive-dystonia
#6
Katja Lohmann, Claire Redin, Holger Tönnies, Susan B Bressman, Jose Ignacio Martin Subero, Karin Wiegers, Frauke Hinrichs, Yorck Hellenbroich, Aleksandar Rakovic, Deborah Raymond, Laurie J Ozelius, Eberhard Schwinger, Reiner Siebert, Michael E Talkowski, Rachel Saunders-Pullman, Christine Klein
Importance: Chromosomal rearrangements are increasingly recognized to underlie neurologic disorders and are often accompanied by additional clinical signs beyond the gene-specific phenotypic spectrum. Objective: To elucidate the causal genetic variant in a large US family with co-occurrence of dopa-responsive dystonia as well as skeletal and eye abnormalities (ie, ptosis, myopia, and retina detachment). Design, Setting, and Participants: We examined 10 members of a family, including 5 patients with dopa-responsive dystonia and skeletal and/or eye abnormalities, from a US tertiary referral center for neurological diseases using multiple conventional molecular methods, including fluorescence in situ hybridization and array comparative genomic hybridization as well as large-insert whole-genome sequencing to survey multiple classes of genomic variations...
May 30, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28420389/assessment-of-copy-number-variation-in-genes-related-to-drug-resistance-in-plasmodium-vivax-and-plasmodium-falciparum-isolates-from-the-brazilian-amazon-and-a-systematic-review-of-the-literature
#7
REVIEW
Gabriel Luíz Costa, Lara Cotta Amaral, Cor Jesus Fernandes Fontes, Luzia Helena Carvalho, Cristiana Ferreira Alves de Brito, Taís Nóbrega de Sousa
BACKGROUND: Parasite resistance to anti-malarials represents a great obstacle for malaria elimination. The majority of studies have investigated the association between single-nucleotide polymorphisms (SNPs) and drug resistance; however, it is becoming clear that the copy number variation (CNV) is also associated with this parasite phenotype. To provide a baseline for molecular surveillance of anti-malarial drug resistance in the Brazilian Amazon, the present study characterized the genetic profile of both markers in the most common genes associated with drug resistance in Plasmodium falciparum and Plasmodium vivax isolates...
April 19, 2017: Malaria Journal
https://www.readbyqxmd.com/read/28415164/beyond-the-classic-segawa-disease-gch1-associated-neurodegenerative-parkinsonism-practical-considerations-for-physicians
#8
Jirat Chenbhanich, Jirada Sringean, Roongroj Bhidayasiri
No abstract text is available yet for this article.
May 2017: Journal of Movement Disorders
https://www.readbyqxmd.com/read/28399119/caffeine-ameliorates-hyperoxia-induced-lung-injury-by-protecting-gch1-function-in-neonatal-rat-pups
#9
Xigang Jing, Yi-Wen Huang, Jason Jarzembowski, Yang Shi, Girija G Konduri, Ru-Jeng Teng
BackgroundBronchopulmonary dysplasia (BPD) is a major morbidity in premature infants, and impaired angiogenesis is considered a major contributor to BPD. Early caffeine treatment decreases the incidence of BPD; the mechanism remains incompletely understood.MethodsSprague-Dawley rat pups exposed to normoxia or hyperoxia since birth were treated daily with either 20 mg/kg caffeine or normal saline by an intraperitoneal injection from day 2 of life. The lungs were obtained for studies at days 10 and 21.ResultsHyperoxia impaired somatic growth and lung growth in the rat pups...
May 24, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28397219/-analysis-of-clinical-phenotype-and-cgh1-gene-mutations-in-a-family-affected-with-dopa-responsive-dystonia
#10
Yaping Yan, Xiaohong Chen, Wei Luo
OBJECTIVE: To explore genetic mutations and clinical features of a pedigree affected with dopa-responsive dystonia. METHODS: PCR and Sanger sequencing were applied to detect mutations of the GCH1 gene among 7 members from the pedigree. RESULTS: The family was detected to have a known heterozygous mutation of the GCH1 gene (c.550C>T). For the 7 members from the pedigree, the age of onset has ranged from 13 to 60 years. The mother of the proband has carried the same mutation but was still healthy at 80...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28395739/generation-of-an-ipsc-line-from-a-patient-with-gtp-cyclohydrolase-1-gch1-deficiency-hdmc0061i-gch1
#11
Sabine Jung-Klawitter, Juliane Ebersold, Gudrun Göhring, Nenad Blau, Thomas Opladen
Fibroblasts from a female patient carrying a heterozygous variation in GTP cyclohydrolase 1 (GCH1; OMIM: 600225; HGNC: 4193; c.235_240del/p.(L79_S80del)), the rate-limiting enzyme of tetrahydrobiopterin (BH4) synthesis, were reprogrammed to iPSCs using the Cytotune®-iPS 2.0 Sendai Reprogramming Kit (Invitrogen) delivering the four reprogramming factors Oct3/4, Sox2, c-Myc and Klf4. Pluripotency of HDMC0061i-GCH1 was verified using immunohistochemistry and RT-PCR analysis. Cells differentiated spontaneously into the 3 germ layers in vitro and presented a normal karyotype...
April 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28380328/polymorphism-in-mir4697-but-not-vps13c-gch1-or-sipa1l2-is-associated-with-risk-of-parkinson-s-disease-in-a-han-chinese-population
#12
Xinglong Yang, Jinhua Zheng, Ran An, Sijia Tian, Quanzhen Zhao, Yalan Chen, Hongyan Huang, Ping Ping Ning, Yi Song, Yanming Xu
A large meta-analysis recently identified six new loci associated with risk of PD, but subsequent studies have given discrepant results. Here we conducted a case-control study in a Han Chinese population in an attempt to clarify risk associations in Chinese. Among the four single-nucleotide polymorphisms (SNPs) that we examined - VPS13C-rs2414739, MIR4697-rs329648, GCH1-rs11158026, and SIPA1L2- rs10797576 we detected a significant association between rs329648 and risk of developing PD in a recessive model. This association remained significant after adjusting for gender and age (OR 1...
April 3, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28366877/translational-effects-and-coding-potential-of-an-upstream-open-reading-frame-associated-with-dopa-responsive-dystonia
#13
Lataisia Jones, Lacy Goode, Eduardo Davila, Amber Brown, Deirdre M McCarthy, Nutan Sharma, Pradeep G Bhide, Ioanna A Armata
Upstream open reading frames (uORFs) have emerged as major post-transcriptional regulatory elements in eukaryotic species. In general, uORFs are initiated by a translation start codon within the 5' untranslated region of a gene (upstream ATG; uATG), and they are negatively correlated with translational efficiency. In addition to their translational regulatory role, some uORFs can code for biologically active short peptides. The importance of uATGs/uORFs is further underscored by human diseases associated with single nucleotide polymorphisms (SNPs), which disrupt existing uORFs or introduce novel uORFs...
March 31, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28348207/nurr1-rxr%C3%AE-heterodimer-activation-as-monotherapy-for-parkinson-s-disease
#14
Athanasios D Spathis, Xenophon Asvos, Despina Ziavra, Theodoros Karampelas, Stavros Topouzis, Zoe Cournia, Xiaobing Qing, Pavlos Alexakos, Lisa M Smits, Christina Dalla, Hardy J Rideout, Jens Christian Schwamborn, Constantin Tamvakopoulos, Demosthenes Fokas, Demetrios K Vassilatis
Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by the loss of dopaminergic (DAergic) neurons in the substantia nigra and the gradual depletion of dopamine (DA). Current treatments replenish the DA deficit and improve symptoms but induce dyskinesias over time, and neuroprotective therapies are nonexistent. Here we report that Nuclear receptor-related 1 (Nurr1):Retinoid X receptor α (RXRα) activation has a double therapeutic potential for PD, offering both neuroprotective and symptomatic improvement...
April 11, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28283962/update-on-the-genetics-of-dystonia
#15
REVIEW
Katja Lohmann, Christine Klein
Mainly due to the advent of next-generation sequencing (NGS), the field of genetics of dystonia has rapidly grown in recent years, which led to the discovery of a number of novel dystonia genes and the development of a new classification and nomenclature for inherited dystonias. In addition, new findings from both in vivo and in vitro studies have been published on the role of previously known dystonia genes, extending our understanding of the pathophysiology of dystonia. We here review the current knowledge and recent findings in the known genes for isolated dystonia TOR1A, THAP1, and GNAL as well as for the combined dystonias due to mutations in GCH1, ATP1A3, and SGCE...
March 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28128438/a-key-role-for-tetrahydrobiopterin-dependent-endothelial-nos-regulation-in-resistance-arteries-studies-in-endothelial-cell-tetrahydrobiopterin-deficient-mice
#16
Surawee Chuaiphichai, Mark J Crabtree, Eileen Mcneill, Ashley B Hale, Lucy Trelfa, Keith M Channon, Gillian Douglas
BACKGROUND AND PURPOSE: The cofactor tetrahydrobiopterin (BH4) is a critical regulator of endothelial NOS (eNOS) function, eNOS-derived NO and ROS signalling in vascular physiology. To determine the physiological requirement for de novo endothelial cell BH4 synthesis for the vasomotor function of resistance arteries, we have generated a mouse model with endothelial cell-specific deletion of Gch1, encoding GTP cyclohydrolase 1 (GTPCH), an essential enzyme for BH4 biosynthesis, and evaluated BH4-dependent eNOS regulation, eNOS-derived NO and ROS generation...
April 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/28087438/dopa-responsive-dystonia-in-chinese-patients-including-a-novel-heterozygous-mutation-in-the-gch1-gene-with-an-intermediate-phenotype-and-one-case-of-prenatal-diagnosis
#17
Wen Zhang, Zhizi Zhou, Xiuzhen Li, Yonglan Huang, Taolin Li, Yunting Lin, Yongxian Shao, Hao Hu, Hongsheng Liu, Li Liu
Dopa-responsive dystonia (DRD) is a rare inherited disorder characterized by childhood-onset dystonia with diurnal fluctuation and dramatic response to levodopa. DRD is caused by the mutations in the genes encoding the enzymes involved in the dopamine and tetrahydrobiopterin (BH4) biosynthesis, including the GTP cyclohydrolase 1 (GCH1) gene and the tyrosine hydroxylase (TH) gene. In order to improve the diagnosis and expand the knowledge of the disease, we collected and analyzed relevant data of clinical diagnosis and molecular mutational analysis in five Chinese patients with DRD...
January 10, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/27956669/genetic-polymorphisms-and-their-association-with-the-prevalence-and-severity-of-chronic-postsurgical-pain-a-systematic-review
#18
D M N Hoofwijk, R R I van Reij, B P Rutten, G Kenis, W F Buhre, E A Joosten
BACKGROUND: Although several patient characteristic, clinical, and psychological risk factors for chronic postsurgical pain (CPSP) have been identified, genetic variants including single nucleotide polymorphisms have also become of interest as potential risk factors for the development of CPSP. The aim of this review is to summarize the current evidence on genetic polymorphisms associated with the prevalence and severity of CPSP in adult patients. METHODS: A systematic review of the literature was performed, and additional literature was obtained by reference tracking...
December 2016: British Journal of Anaesthesia
https://www.readbyqxmd.com/read/27899115/characterizing-the-impact-of-sustained-sulfadoxine-pyrimethamine-use-upon-the-plasmodium-falciparum-population-in-malawi
#19
Matt Ravenhall, Ernest Diez Benavente, Mwapatsa Mipando, Anja T R Jensen, Colin J Sutherland, Cally Roper, Nuno Sepúlveda, Dominic P Kwiatkowski, Jacqui Montgomery, Kamija S Phiri, Anja Terlouw, Alister Craig, Susana Campino, Harold Ocholla, Taane G Clark
BACKGROUND: Malawi experienced prolonged use of sulfadoxine/pyrimethamine (SP) as the front-line anti-malarial drug, with early replacement of chloroquine and delayed introduction of artemisinin-based combination therapy. Extended use of SP, and its continued application in pregnancy is impacting the genomic variation of the Plasmodium falciparum population. METHODS: Whole genome sequence data of P. falciparum isolates covering 2 years of transmission within Malawi, alongside global datasets, were used...
November 29, 2016: Malaria Journal
https://www.readbyqxmd.com/read/27871051/aging-modifies-the-effect-of-gch1-rs11158026-on-dat-uptake-and-parkinson-s-disease-clinical-severity
#20
Joseph Webb, Auriel A Willette
Novel single nucleotide polymorphisms within Parkinson's disease (PD) can predict disease risk, but their influence on clinical, cognitive, and neurobiological indices remains unexplored. We investigated differences between functional polymorphisms at RS11158026 coding for guanosine triphosphate cyclohydrolase-1 (GCH1), an essential enzyme for dopamine production in nigrostriatal cells. Among newly diagnosed, untreated PD subjects and age-matched controls from the Parkinson's Progression Markers Initiative, T allele carriers showed higher PD risk (odds ratio = 1...
February 2017: Neurobiology of Aging
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