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https://www.readbyqxmd.com/read/29124790/neuropathology-of-genetic-synucleinopathies-with-parkinsonism-review-of-the-literature
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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...
July 1, 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
#16
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
#17
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
#18
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...
September 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
#19
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
#20
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
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