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https://www.readbyqxmd.com/read/29351461/exercise-training-induces-enos-coupling-and-restores-relaxation-in-coronary-arteries-of-heart-failure-rats
#1
Gisele Kruger Couto, Suliana Mesquita Paula, Igor L Gomes-Santos, Carlos Eduardo Negrão, Luciana Venturini Rossoni
Exercise training (ET) has emerged as a non-pharmacological therapy for cardiovascular diseases because of its helpful milieu for improving vascular function. The aim of the present study was to assess whether ET reverses the alterations in vascular reactivity observed in heart failure (HF)-related coronary arteries and to elucidate the molecular mechanisms involved in these adjustments. Male Wistar rats were subjected to either coronary artery ligation or sham operation (SO). Four weeks after the surgery, the rats were divided into two groups: untrained HF (UHF) and exercise-trained HF (THF)...
January 5, 2018: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/29351172/a-systematic-review-and-meta-analysis-of-genetic-risk-factors-for-neuropathic-pain
#2
Abirami Veluchamy, Harry L Hébert, Weihua Meng, Colin N A Palmer, Blair H Smith
Neuropathic pain (NP) is an increasingly common chronic pain state and a major health burden, affecting approximately 7-10% of the general population. Emerging evidence suggests that genetic factors could partially explain individual susceptibility to NP and the estimated heritability in twins is 37%. The aim of this study was to systematically review and summarize the studies in humans that have investigated the influence of genetic factors associated with NP. We conducted a comprehensive literature search and performed meta-analyses of all the potential genetic variants associated with NP...
January 18, 2018: Pain
https://www.readbyqxmd.com/read/29325615/inherited-dystonias-clinical-features-and-molecular-pathways
#3
Corinne E Weisheit, Samuel S Pappas, William T Dauer
Recent decades have witnessed dramatic increases in understanding of the genetics of dystonia - a movement disorder characterized by involuntary twisting and abnormal posture. Hampered by a lack of overt neuropathology, researchers are investigating isolated monogenic causes to pinpoint common molecular mechanisms in this heterogeneous disease. Evidence from imaging, cellular, and murine work implicates deficiencies in dopamine neurotransmission, transcriptional dysregulation, and selective vulnerability of distinct neuronal populations to disease mutations...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29289916/a-novel-missense-mutation-of-the-gtp-cyclohydrolase-1-gene-in-a-taiwanese-family-with-dopa-responsive-dystonia-a-case-report
#4
Chen-Chih Yang, Wei-Chung Wang, Tu-Hsueh Yeh, Tzu-Hsuan Chen, Yen-Liang Liu, Ming-Kuei Lu, Chin-Song Lu, Chon-Haw Tsai
BACKGROUND: Dopa-responsive dystonia (DRD) is a clinical syndrome characterized by early onset dystonia and a dramatic response to relatively low doses of levodopa. The autosomal dominant DRD is caused by mutations in the gene coding GTP cyclohydrolase 1 (GCH1), the enzyme that catalyzes the first step in the biosynthesis of tetrahydrobiopterin. We herein report a novel gene mutation causally links to DRD. SUBJECT AND METHODS: A 23-year-old woman, presented with a history of gait abnormality and leg dystonia at age 15...
December 26, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29225908/an-unusual-presentation-of-tyrosine-hydroxylase-deficiency
#5
Linn E Katus, Steven J Frucht
Background: Dopa-responsive dystonia (DRD) has largely been associated with autosomal dominant mutations in the GCH1 gene leading to GTP cyclohydrolase 1 deficiency. More recently, a deficiency in tyrosine hydroxylase (TH) has been recognized to cause DRD. This is a rare disorder resulting from genetic mutations in the TH gene on chromosome 11. The phenotype ranges from DRD with complete resolution on levodopa to infantile parkinsonism and encephalopathy only partially responsive to levodopa...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/29147684/c-207c-g-mutation-in-sepiapterin-reductase-causes-autosomal-dominant-dopa-responsive-dystonia
#6
Ali S Shalash, Thomas W Rösler, Stefanie H Müller, Mohamed Salama, Günther Deuschl, Ulrich Müller, Thomas Opladen, Britt-Sabina Petersen, Andre Franke, Franziska Hopfner, Gregor Kuhlenbäumer, Günter U Höglinger
Objective: To elucidate the genetic cause of an Egyptian family with dopa-responsive dystonia (DRD), a childhood-onset dystonia, responding therapeutically to levodopa, which is caused by mutations in various genes. Methods: Rare variants in all coding exons of GCH1 were excluded by Sanger sequencing. Exome sequencing was applied for 1 unaffected and 2 affected family members. To investigate the functional consequences of detected genetic variants, urinary sepiapterin concentrations were determined by high-performance liquid chromatography...
December 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/29124790/neuropathology-of-genetic-synucleinopathies-with-parkinsonism-review-of-the-literature
#7
REVIEW
Susanne A Schneider, Roy N Alcalay
Clinical-pathological studies remain the gold-standard for the diagnosis of Parkinson's disease (PD). However, mounting data from genetic PD autopsies challenge the diagnosis of PD based on Lewy body pathology. Most of the confirmed genetic risks for PD show heterogenous neuropathology, even within kindreds, which may or may not include Lewy body pathology. We review the literature of genetic PD autopsies from cases with molecularly confirmed PD or parkinsonism and summarize main findings on SNCA (n = 25), Parkin (n = 20, 17 bi-allelic and 3 heterozygotes), PINK1 (n = 5, 1 bi-allelic and 4 heterozygotes), DJ-1 (n = 1), LRRK2 (n = 55), GBA (n = 10 Gaucher disease patients with parkinsonism), DNAJC13, GCH1, ATP13A2, PLA2G6 (n = 8 patients, 2 with PD), MPAN (n = 2), FBXO7, RAB39B, and ATXN2 (SCA2), as well as on 22q deletion syndrome (n = 3)...
November 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29123664/chronic-post-amputation-pain-peri-operative-management-review
#8
Devjit Srivastava
Study design: Narrative review. Method: Eight bibliographic databases were searched for studies published in the (last five years up until Feb 2017). For the two database searches (Cochrane and DARE), the time frame was unlimited. The review involved keyword searches of the term 'Amputation' AND 'chronic pain'. Studies selected were interrogated for any association between peri-operative factors and the occurrence of chronic post amputation pain (CPAP). Results: Heterogeneity of study populations and outcome measures prevented a systematic review and hence a narrative synthesis of results was undertaken...
November 2017: British Journal of Pain
https://www.readbyqxmd.com/read/29121864/comparative-transcriptome-and-dna-methylation-analyses-of-the-molecular-mechanisms-underlying-skin-color-variations-in-crucian-carp-carassius-carassius-l
#9
Yongqin Zhang, Jinhui Liu, Wen Fu, Wenting Xu, Huiqin Zhang, Shujuan Chen, Wenbin Liu, Liangyue Peng, Yamei Xiao
BACKGROUND: Crucian carp is a popular ornamental strain in Asia with variants in body color. To further explore the genetic mechanisms underlying gray and red body color formation in crucian carp, the skin transcriptomes and partial DNA methylation sites were obtained from red crucian carp (RCC) and white crucian carp (WCC). Here, we show significant differences in mRNA expression and DNA methylation sites between skin tissues of RCC and WCC. RESULTS: Totals of 3434 and 3683 unigenes had significantly lower and higher expression in WCC, respectively, compared with unigenes expressed in RCC...
November 9, 2017: BMC Genetics
https://www.readbyqxmd.com/read/29066160/non-motor-symptoms-and-quality-of-life-in-dopa-responsive-dystonia-patients
#10
E R Timmers, A Kuiper, M Smit, A L Bartels, D J Kamphuis, N I Wolf, B T Poll-The, T Wassenberg, E A J Peeters, T J de Koning, M A J Tijssen
BACKGROUND: In patients with GTP-cyclohydrolase deficient dopa-responsive dystonia (DRD) the occurrence of associated non-motor symptoms (NMS) is to be expected. Earlier studies report conflicting results with regard to the nature and severity of NMS. The aim of our study was to investigate the prevalence of psychiatric disorders, sleep problems, fatigue and health-related quality of life (HR-QoL) in a Dutch DRD cohort. METHODS: Clinical characteristics, motor symptoms, type and severity of psychiatric co-morbidity, sleep problems, fatigue and HR-QoL were assessed in DRD patients with a confirmed GCH1 mutation and matched controls...
October 10, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29056292/epigenetics-and-gene-expression-profile-in-first-episode-psychosis-the-role-of-childhood-trauma
#11
REVIEW
Simona Tomassi, Sarah Tosato
Childhood Trauma (CT) mediation of the epigenome and its impact on gene expression profile could provide a mechanism for the gene-environment interaction underling psychosis. We reviewed the evidence concerning epigenetic and gene expression modifications associated with CT in both First-Episode Psychosis (FEP) and healthy subjects. In order to explore the relative role of psychosis itself in determining these modifications, evidence about FEP and epigenetics/gene expression was also summarized. We performed a systematic search on PubMed, last updated in December 2016...
October 19, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/29034893/establishment-of-dyt5-patient-specific-induced-pluripotent-stem-cells-with-a-gch1-mutation
#12
Nagahisa Murakami, Taizo Ishikawa, Takayuki Kondo, Keiko Imamura, Kayoko Tsukita, Takako Enami, Misato Funayama, Ran Shibukawa, Shinichi Matsumoto, Yuishin Izumi, Etsuro Ohta, Fumiya Obata, Ryuji Kaji, Haruhisa Inoue
Peripheral blood mononuclear cells (PBMCs) were collected from a clinically diagnosed 20-year-old dystonia patient with a GCH1 mutation (DYT5). Episomal vectors were used to introduce reprogramming factors (OCT3/4, SOX2, KLF4, L-MYC, LIN28, and p53 carboxy-terminal dominant-negative fragment) to the PBMCs. The generated iPSCs expressed pluripotency markers, and were capable of differentiating into derivates of all three germ layers in vitro. The iPSC line also showed a normal karyotype and preserved the GCH1 mutation...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28958832/gch1-mutations-are-common-in-serbian-patients-with-dystonia-parkinsonism-challenging-previously-reported-prevalence%C3%A2-rates-of-dopa-responsive-dystonia
#13
Valerija Dobričić, Aleksandra Tomić, Vesna Branković, Nikola Kresojević, Milena Janković, Ana Westenberger, Vedrana Milić Rašić, Christine Klein, Ivana Novaković, Marina Svetel, Vladimir S Kostić
BACKGROUND: GTP cyclohydrolase 1-deficient DOPA-responsive dystonia, caused by autosomal dominant mutation in the gene coding for GTP cyclohydrolase 1, is a rare disorder with a reported prevalence of 0.5 per million. A correct diagnosis of DRD is crucial, given that this is an exquisitely treatable neurogenetic disorder. Although genetic testing is now widely available, we hypothesize that DRD is still underdiagnosed and its prevalence underestimated. METHODS: Molecular genetic analysis of the GCH1 gene was performed in a representative cohort of 47 Serbian patients with clinical features of DRD and in their 16 available relatives...
September 18, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28745577/advanced-cancer-pain-the-search-for-genetic-factors-correlated-with-interindividual-variability-in-opioid-requirement
#14
Maja Matic, Joost Lm Jongen, Laure Elens, Saskia N de Wildt, Dick Tibboel, Peter Ae Sillevis Smitt, Ron Hn van Schaik
AIM: To assess association between genetic variants and opioid requirement in cancer patients. MATERIALS & METHODS: A prospective observational trial of 243 advanced cancer patients with inadequate analgesia treated by the palliative care team was analyzed for ABCB1, ARRB2, COMT, GCH1, IL1RN, KCNJ6, OPRM1, RHBDF2, SCN9A and Stat6 polymorphisms. RESULTS: For patients carrying OPRM1 118AG/GG and COMT 472GG (Val158Val) or these genotypes alone, a significant higher median percentage dose increase was observed (95...
August 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28667479/combining-human-and-rodent-genetics-to-identify-new-analgesics
#15
REVIEW
Alban Latremoliere, Michael Costigan
Most attempts at rational development of new analgesics have failed, in part because chronic pain involves multiple processes that remain poorly understood. To improve translational success, one strategy is to select novel targets for which there is proof of clinical relevance, either genetically through heritable traits, or pharmacologically. Such an approach by definition yields targets with high clinical validity. The biology of these targets can be elucidated in animal models before returning to the patients with a refined therapeutic...
July 1, 2017: Neuroscience Bulletin
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
#16
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
#17
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
#18
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 cofactor for all nitric oxide synthases. Inadequate availability of BH4 leads to uncoupling of nitric oxide synthases and production of highly oxidative radicals...
October 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28585439/gch1-plays-a-role-in-the-high-altitude-adaptation-of-tibetans
#19
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
#20
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
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