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https://www.readbyqxmd.com/read/28323958/jmjd3-is-crucial-for-female-avpv-rip-cre-neuron-controlled-kisspeptin-estrogen-feedback-loop-and-reproductive-function
#1
Anying Song, Shujun Jiang, Qinghua Wang, Jianghuan Zou, Zhaoyu Lin, Xiang Gao
The hypothalamic-pituitary-gonadal axis controls development, reproduction, and metabolism. While most studies were focusing on the hierarch from brain to gonad, many questions remain unresolved concerning the feedback from gonad to the central nervous system, especially on the potential epigenetic modification in hypothalamic neurons. In this report, we generated genetically modified mice lacking histone H3 lysine 27 demethylase JMJD3 in hypothalamic RIP-Cre neurons. The female mutant mice display late-onset obesity due to reduced locomotor activity and decreased energy expenditure...
March 9, 2017: Endocrinology
https://www.readbyqxmd.com/read/28319445/nonclinical-pharmacology-toxicology-study-of-aav8-tbg-mldlr-and-aav8-tbg-hldlr-in-a-mouse-model-of-homozygous-familial-hypercholesterolemia
#2
Jenny A Greig, Maria P Limberis, Peter Bell, Shu-Jen Chen, Roberto Calcedo, Daniel J Rader, James M Wilson
The homozygous form of familial hypercholesterolemia (HoFH) is an excellent model for developing in vivo gene therapy in humans. The success of orthotropic liver transplantation in correcting the metabolic abnormalities in HoFH suggests that the correction of low-density lipoprotein receptor (LDLR) expression in hepatocytes via gene therapy should be sufficient for therapeutic efficacy. Vectors based on adeno-associated virus serotype 8 (AAV8) have been previously developed for liver-targeted gene therapy of a number of genetic diseases, including HoFH...
March 2017: Human Gene Therapy. Clinical Development
https://www.readbyqxmd.com/read/28319438/systemic-deregulation-of-autophagy-upon-loss-of-als-and-ftd-linked-c9orf72
#3
Yon Ji, Janet Ugolino, Nathan Ryan Brady, Anne Hamacher-Brady, Jiou Wang
A genetic mutation in the C9orf72 gene causes the most common forms of neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The C9orf72 protein, predicted to be a DENN-family protein, is reduced in ALS and FTD, but its functions remain poorly understood. Using a 3110043O21Rik/C9orf72 knockout mouse model, as well as cellular analysis, we have found that loss of C9orf72 causes alterations in the signaling states of central autophagy regulators. In particular, C9orf72 depletion leads to reduced activity of MTOR, a negative regulator of macroautophagy/autophagy, and concomitantly increased TFEB levels and nuclear translocation...
March 20, 2017: Autophagy
https://www.readbyqxmd.com/read/28316260/animal-physiology-and-genetic-aspects-of-ryegrass-staggers-in-grazing-sheep
#4
C A Morris, T T Wheeler, H V Henderson, N R Towers, S H Phua
Ryegrass staggers (RGS) is a metabolic disease of herbivores, caused by the ingestion of perennial ryegrass (Lolium perenne L.) containing a fungal endophyte (Neotyphodium lolii) which produces a tremorgenic toxin, lolitrem B. RGS has a major economic impact for agriculture in New Zealand as well as internationally. Management of RGS in grazing sheep can be problematic, and there is an incomplete knowledge of the interaction between the toxin and the grazing animal. This review is focused on recent advances in understanding the molecular physiology of RGS in the affected animal as well as the influence of animal genetics on the degree of susceptibility to RGS...
March 19, 2017: New Zealand Veterinary Journal
https://www.readbyqxmd.com/read/28316138/irx3-is-a-genetic-modifier-for-birth-weight-adolescent-obesity-and-transaminase-metabolism
#5
C Liu, C Chu, J Zhang, D Wu, D Xu, P Li, Y Chen, B Liu, L Pei, L Zhang, S Liu, T Qi, X-Y Lou, L Li
OBJECTIVE: IRX3 expression has been functionally associated in obesity-associated long-distance susceptibility loci, but the effect of the IRX3 genetic variants on human obesity and obesity-related metabolism remains uncertain. METHODS: To determine the genetic role of IRX3, we conducted a molecular epidemiological analysis using three haplotype tagging single nucleotide polymorphisms (SNPs; rs8053360, rs3751723 and rs12445085) and one nonsynonymous SNP (rs1126960) at the IRX3 locus in 333 junior and senior high school students from a northeast Chinese population...
March 19, 2017: Pediatric Obesity
https://www.readbyqxmd.com/read/28316001/associations-of-polymorphisms-in-the-candidate-genes-for-alzheimer-s-disease-bin1-clu-cr1-and-picalm-with-gestational-diabetes-and-impaired-glucose-tolerance
#6
Gabriela Vacínová, D Vejražková, P Lukášová, O Lischková, K Dvořáková, R Rusina, I Holmerová, H Vaňková, J Včelák, B Bendlová, M Vaňková
Alzheimer's disease (AD) is the most common type of dementia, with a prevalence that is rising every year. AD is associated with type 2 diabetes mellitus (T2DM) and insulin resistance, and is therefore sometimes called "type 3 diabetes mellitus". The aim of this study was to examine whether the variants of some candidate genes involved in the development of AD, namely BIN1 (rs744373), CLU (rs11136000), CR1 (rs3818361), and PICALM (rs3851179), are related to several disorders of glucose metabolism-gestational diabetes (GDM), T2DM and impaired glucose tolerance (IGT)...
March 18, 2017: Molecular Biology Reports
https://www.readbyqxmd.com/read/28315837/a-search-for-genes-mediating-the-growth-promoting-function-of-tgf%C3%AE-in-the-drosophila-melanogaster-wing-disc
#7
Covadonga F Hevia, Ana López-Varea, Nuria Esteban, Jose F de Celis
TGFβ signalling has a complex influence in cell proliferation, acting to stop cell division in differentiating cells, but also promoting cell division in immature cells. The activity of the pathway in Drosophila is mostly required to stimulate the proliferation of neural and epithelial tissues. Most interestingly, this function is not absolutely required for cell division, but it is needed for these tissues to reach their correct size. It is not known how TGFβ signalling promotes cell division in imaginal discs, or what are the interactions between TGFβ activity and other signalling pathways regulating cell proliferation...
March 17, 2017: Genetics
https://www.readbyqxmd.com/read/28304370/identification-of-dimethylamine-monooxygenase-in-marine-bacteria-reveals-a-metabolic-bottleneck-in-the-methylated-amine-degradation-pathway
#8
Ian Lidbury, Michaela A Mausz, David J Scanlan, Yin Chen
Methylated amines (MAs) are ubiquitous in the marine environment and their subsequent flux into the atmosphere can result in the formation of aerosols and ultimately cloud condensation nuclei. Therefore, these compounds have a potentially important role in climate regulation. Using Ruegeria pomeroyi as a model, we identified the genes encoding dimethylamine (DMA) monooxygenase (dmmABC) and demonstrate that this enzyme degrades DMA to monomethylamine (MMA). Although only dmmABC are required for enzyme activity in recombinant Escherichia coli, we found that an additional gene, dmmD, was required for the growth of R...
March 17, 2017: ISME Journal
https://www.readbyqxmd.com/read/28303150/development-of-synebrick-vectors-as-a-synthetic-biology-platform-for-gene-expression-in-synechococcus-elongatus-pcc-7942
#9
Wook Jin Kim, Sun-Mi Lee, Youngsoon Um, Sang Jun Sim, Han Min Woo
Cyanobacteria are oxygenic photosynthetic prokaryotes that are able to assimilate CO2 using solar energy and water. Metabolic engineering of cyanobacteria has suggested the possibility of direct CO2 conversion to value-added chemicals. However, engineering of cyanobacteria has been limited due to the lack of various genetic tools for expression and control of multiple genes to reconstruct metabolic pathways for biochemicals from CO2. Thus, we developed SyneBrick vectors as a synthetic biology platform for gene expression in Synechococcus elongatus PCC 7942 as a model cyanobacterium...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28303087/a-pilot-genome-wide-association-study-identifies-potential-metabolic-pathways-involved-in-tinnitus
#10
Annick Gilles, Guy Van Camp, Paul Van de Heyning, Erik Fransen
Tinnitus, the perception of an auditory phantom sound in the form of ringing, buzzing, roaring, or hissing in the absence of an external sound source, is perceived by ~15% of the population and 2.5% experiences a severely bothersome tinnitus. The contribution of genes on the development of tinnitus is still under debate. The current manuscript reports a pilot Genome Wide Association Study (GWAS) into tinnitus, in a small cohort of 167 independent tinnitus subjects, and 749 non-tinnitus controls, who were collected as part of a cross-sectional study...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28302752/lower-circulating-folate-induced-by-a-fidgetin-intronic-variant-is-associated-with-reduced-congenital-heart-disease-susceptibility
#11
Dan Wang, Feng Wang, Kai-Hu Shi, Hui Tao, Yang Li, Rui Zhao, Han Lu, Wenyuan Duan, Bin Qiao, Shi-Min Zhao, Hongyan Wang, Jian-Yuan Zhao
Background -Folate deficiency is an independent risk factor for congenital heart disease (CHD); however, the maternal plasma folate level is paradoxically not a good diagnostic marker. Genome-wide surveys have identified variants of non-folate metabolic genes associated with the plasma folate level, suggesting that these genetic polymorphisms are potential risk factors for CHD. Methods -To examine the effects of folate concentration-related variations on CHD risk in the Han Chinese population, we performed three independent case-control studies including a total of 1,489 CHD patients and 1,745 controls...
March 16, 2017: Circulation
https://www.readbyqxmd.com/read/28302194/-clinical-and-molecular-genetic-study-of-nonketotic-hyperglycinemia-in-a-chinese-family
#12
Zhi-Jie Gao, Qian Jiang, Qian Chen, Ke-Ming Xu
Nonketotic hyperglycinemia (NKH) is a rare, inborn error of metabolism. In this case report, a Chinese male infant was diagnosed with NKH caused by GLDC gene mutation. The clinical characteristics and genetic diagnosis were reported. The infant presented with an onset of early metabolic encephalopathy and Ohtahara syndrome. Both blood and urinary levels of metabolites were in the normal range. Brain MRI images indicated a poor development of corpus callosum, and a burst suppression pattern was found in the EEG...
March 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28301983/applying-systems-biology-methodology-to-identify-genetic-factors-possibly-associated-with-recovery-after-traumatic-brain-injury
#13
Brad G Kurowski, Amery Treble-Barna, Alexis J Pitzer, Shari L Wade, Lisa J Martin, Ranjit S Chima, Anil Jegga
Traumatic brain injury (TBI) is one of the leading causes of morbidity and mortality worldwide. It is linked with a number of medical, neurological, cognitive, and behavioral sequelae. The influence of genetic factors on the biology and related recovery after TBI is poorly understood. Studies that seek to elucidate the impact of genetic influences on neurorecovery after TBI will lead to better individualization of prognosis and inform development of novel treatments, which are considerably lacking. Current genetic studies related to TBI have focused on specific candidate genes...
March 16, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/28300467/association-of-cyp1a1-and-cyp1b1-polymorphisms-with-bone-mineral-density-variations-in-postmenopausal-mexican-mestizo-women
#14
Bertha Chávez, Felipe Vilchis, David Rojano-Mejía, Ramón Mauricio Coral Vázquez, María Del Carmen Aguirre-García, Patricia Canto
Herein, we investigated potential associations between polymorphisms of genes related to estrogen metabolism and bone mineral density (BMD) in postmenopausal women. This was a cross-sectional study, in which two hundred and ninety postmenopausal Mexican-Mestizo women were studied. The BMD of the lumbar spine (LS), total hip (TH), and femoral neck (FN) was measured. The distribution of the genetic polymorphisms, including rs1799814 and rs1048943 at CYP1A1 as well as rs1056836 at CYP1B1, were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), single-stranded conformational polymorphism (SSCP), and DNA sequencing...
March 16, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28299500/mthfr-and-mthfd1-gene-polymorphisms-are-not-associated-with-pseudoexfoliation-syndrome-in-south-indian-population
#15
Prakadeeswari Gopalakrishnan, Aravind Haripriya, Periasamy Sundaresan
PURPOSE: Pseudoexfoliation syndrome (PEX) is a late onset disorder of extracellular matrix turnover, associated systemically with cardiovascular and cerebrovascular disease. To evaluate the suggested association of polymorphisms of homocysteine metabolism genes MTHFR (rs1801131, rs1801133) and MTHFD1 (rs8006686) with PEX. METHODS: A case-control association study was undertaken, comprising a total of 1472 individuals including 860 unrelated PEX cases and 612 ethnic-matched cataract controls (CC)...
March 15, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28298917/arsenic-transport-in-rice-and-biological-solutions-to-reduce-arsenic-risk-from-rice
#16
REVIEW
Yanshan Chen, Yong-He Han, Yue Cao, Yong-Guan Zhu, Bala Rathinasabapathi, Lena Q Ma
Rice (Oryza sativa L.) feeds ∼3 billion people. Due to the wide occurrence of arsenic (As) pollution in paddy soils and its efficient plant uptake, As in rice grains presents health risks. Genetic manipulation may offer an effective approach to reduce As accumulation in rice grains. The genetics of As uptake and metabolism have been elucidated and target genes have been identified for genetic engineering to reduce As accumulation in grains. Key processes controlling As in grains include As uptake, arsenite (AsIII) efflux, arsenate (AsV) reduction and AsIII sequestration, and As methylation and volatilization...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28298860/association-of-angiotensin-converting-enzyme-cyp46a1-genes-polymorphism-with-senile-cataract
#17
Syed Tasleem Raza, Shania Abbas, Anu Chandra, Luxmi Singh, Saliha Rizvi, Farzana Mahdi
BACKGROUND: Senile cataract is the most common type of cataract characterized by gradual progressive thickening of the lens of the eye. Previously, many studies investigated the association between genetic polymorphism and senile cataract. Angiotensin-converting enzyme (ACE) I/D polymorphism is the potential risk factor for many eye-related diseases such as retinopathy and glaucoma. CYP46A1 enzyme converts cholesterol to 24S-hydroxycholesterol; human lens' membranes contain the highest cholesterol content...
January 2017: Oman Journal of Ophthalmology
https://www.readbyqxmd.com/read/28296572/srna154-a-newly-identified-regulator-of-nitrogen-fixation-in-methanosarcina%C3%A2-mazei-strain-g%C3%A3-1
#18
Daniela Prasse, Konrad U Förstner, Dominik Jäger, Rolf Backofen, Ruth A Schmitz
Trans-encoded sRNA154 is exclusively expressed under nitrogen (N)-deficiency in Methanosarcina mazei strain Gö1. The sRNA154 deletion strain showed a significant decrease in growth under N-limitation, pointing towards a regulatory role of sRNA154 in N-metabolism. Aiming to elucidate its regulatory function we characterized sRNA154 by means of biochemical and genetic approaches. 24 homologs of sRNA154 were identified in recently reported draft genomes of Methanosarcina strains, demonstrating high conservation in sequence and predicted secondary structure with two highly conserved single stranded loops...
March 15, 2017: RNA Biology
https://www.readbyqxmd.com/read/28296015/constitutional-and-functional-genetics-of-human-alcohol-related-hepatocellular-carcinoma
#19
REVIEW
Pierre Nahon, Jean-Charles Nault
Exploration of the constitutional genetics of hepatocellular carcinoma (HCC) has identified numerous variants associated with a higher risk of liver cancer in alcoholic cirrhotic patients. Although Genome Wide Association studies have not been carried out in the field of alcohol-related HCC, common single nucleotide polymorphisms conferring a small increase in the risk of liver cancer risk been identified and been shown to modulate ethanol metabolism, inflammation, oxidative stress, iron or lipid metabolism...
March 14, 2017: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/28295376/both-maternally-and-paternally-imprinted-genes-regulate-seed-development-in-rice
#20
Jingya Yuan, Sushu Chen, Wu Jiao, Longfei Wang, Limei Wang, Wenxue Ye, Jie Lu, Delin Hong, Siliang You, Zhukuan Cheng, Dong-Lei Yang, Z Jeffrey Chen
Genetic imprinting refers to the unequal expression of paternal and maternal alleles of a gene in sexually reproducing organisms, including mammals and flowering plants. Although many imprinted genes have been identified in plants, the functions of these imprinted genes have remained largely uninvestigated. We report genome-wide analysis of gene expression, DNA methylation and small RNAs in the rice endosperm and functional tests of five imprinted genes during seed development using Clustered Regularly Interspaced Short Palindromic Repeats/CRISPR-associated gene9 (CRISPR/Cas9) gene editing technology...
March 13, 2017: New Phytologist
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