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https://www.readbyqxmd.com/read/27913610/whole-exome-sequencing-of-thymic-neuroendocrine-tumor-with-ectopic-acth-syndrome
#1
Yanli Li, Ying Peng, Xiuli Jiang, Yulong Cheng, Weiwei Zhou, Tingwei Su, Jing Xie, Xu Zhong, Dalong Song, Luming Wu, Liwen Fan, Min Li, Jie Hong, Weiqing Wang, Guang Ning, Yanan Cao
OBJECTIVE: Thymic neuroendocrine tumor is the second-most prevalent cause of ectopic adrenocorticotropic hormone (ACTH) syndrome (EAS), which is a rare disease characterized by ectopic ACTH oversecretion from nonpituitary tumors. However, the genetic abnormalities of thymic neuroendocrine tumors with EAS remain largely unknown. We aim to elucidate the genetic abnormalities and identify the somatic mutations of potential tumor-related genes of thymic neuroendocrine tumors with EAS by whole exome sequencing...
February 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27913608/the-clinical-utility-of-circulating-neuroendocrine-gene-transcript-analysis-in-well-differentiated-paragangliomas-and-pheochromocytomas
#2
M Pęczkowska, J Cwikla, M Kidd, A Lewczuk, A Kolasinska-Ćwikła, D Niec, I Michałowska, A Prejbisz, A Januszewicz, J Chiarelli, L Bodei, I Modlin
CONTEXT: Paragangliomas and pheochromocytomas (PPGLs) exhibit variable malignancy, which is difficult to determine by histopathology, amine measurements or tissue genetic analyses. OBJECTIVE: To evaluate whether a 51-neuroendocrine gene blood analysis has clinical utility as a diagnostic and prognostic marker. DESIGN: Prospective cohort study. Well-differentiated PPGLs (n = 32), metastatic (n = 4); SDHx mutation (n = 25); 12 biochemically active, Lanreotide treated (n = 4)...
February 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27913417/development-of-an-improved-system-for-the-generation-of-knock-out-mutants-of-amycolatopsis-sp-atcc-39116
#3
Florian Meyer, Hilke Pupkes, Alexander Steinbüchel
The Gram-positive actinomycete Amycolatopsis sp. ATCC 39116 is used for the industrial production of natural vanillin. Previously, the only gene deletion performed in this strain targeted the gene vdh coding for a vanillin dehydrogenase. The generation of this mutant suffered from a high number of illegitimate recombinations and the low rate of homologous recombination. To alleviate this, we constructed an optimized deletion system based on a modified suicide vector. Thereby, we were able to enhance the rate of homologous integration from less than 1% of the analyzed clones to 20% or 50% depending on the targeted gene...
December 2, 2016: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/27911809/unique-attributes-of-cyanobacterial-metabolism-revealed-by-improved-genome-scale-metabolic-modeling-and-essential-gene-analysis
#4
Jared T Broddrick, Benjamin E Rubin, David G Welkie, Niu Du, Nathan Mih, Spencer Diamond, Jenny J Lee, Susan S Golden, Bernhard O Palsson
The model cyanobacterium, Synechococcus elongatus PCC 7942, is a genetically tractable obligate phototroph that is being developed for the bioproduction of high-value chemicals. Genome-scale models (GEMs) have been successfully used to assess and engineer cellular metabolism; however, GEMs of phototrophic metabolism have been limited by the lack of experimental datasets for model validation and the challenges of incorporating photon uptake. Here, we develop a GEM of metabolism in S. elongatus using random barcode transposon site sequencing (RB-TnSeq) essential gene and physiological data specific to photoautotrophic metabolism...
December 1, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27911022/membrane-defects-and-genetic-redundancy-are-we-at-a-turning-point-for-dyt1-dystonia
#5
REVIEW
Ana Cascalho, Julie Jacquemyn, Rose E Goodchild
Heterozygosity for a 3-base pair deletion (ΔGAG) in TOR1A/torsinA is one of the most common causes of hereditary dystonia. In this review, we highlight current understanding of how this mutation causes disease from research spanning structural biochemistry, cell science, neurobiology, and several model organisms. We now know that homozygosity for ΔGAG has the same effects as Tor1a(KO) , implicating a partial loss of function mechanism in the ΔGAG/+ disease state. In addition, torsinA loss specifically affects neurons in mice, even though the gene is broadly expressed, apparently because of differential expression of homologous torsinB...
December 2, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27910864/renin-angiotensin-aldosterone-system-gene-polymorphisms-in-gestational-hypertension-and-preeclampsia-a-case-control-gene-association-study
#6
Xun Li, Hongzhuan Tan, Shujin Zhou, Shimin Hu, Tianyi Zhang, Yangfen Li, Qianru Dou, Zhiwei Lai, Fenglei Chen
Pregnancy-induced hypertension (PIH, including preeclampsia [PE] and gestational hypertension [GH]) and cardiovascular diseases (CVDs) have some metabolic changes and risk factors in common. Many studies have reported associations between single nucleotide polymorphisms (SNPs) of renin-angiotensin-aldosterone system (RAAS) genes and CVDs (particularly hypertension), and their findings have provided candidate SNPs for research on genetic correlates of PIH. We explored the association between hypertension-related RAAS SNPs and PIH in a Chinese population...
December 2, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27910748/factors-influencing-the-amino-acid-and-peptide-transporter-proteins-mrna-expression-in-avian-species
#7
Bahman Navidshad, Seyed Ziaodin Mirhoseini
The commercial strains of broiler chickens have genetically selected to reach market weight at younger ages. In order to sustain increased growth rate requires an efficient assimilation of nutrients from the intestinal lumen, which is permitted through nutrient assimilation through the enterocytes that is facilitated by many nutrient transporter proteins. These trans-membrane proteins have specific action, well known kinetics and assist in the partitioning of nutrients among tissues. Amino acids are transported across the plasma membrane as free amino acids or short chain peptides through several independent systems encoded by various nutrient transporter gene products, and these systems may act on multiple substrates...
2016: Critical Reviews in Eukaryotic Gene Expression
https://www.readbyqxmd.com/read/27909940/enhancement-of-rapamycin-production-by-metabolic-engineering-in-streptomyces-hygroscopicus-based-on-genome-scale-metabolic-model
#8
Lanqing Dang, Jiao Liu, Cheng Wang, Huanhuan Liu, Jianping Wen
Rapamycin, as a macrocyclic polyketide with immunosuppressive, antifungal, and anti-tumor activity produced by Streptomyces hygroscopicus, is receiving considerable attention for its significant contribution in medical field. However, the production capacity of the wild strain is very low. Hereby, a computational guided engineering approach was proposed to improve the capability of rapamycin production. First, a genome-scale metabolic model of Streptomyces hygroscopicus ATCC 29253 was constructed based on its annotated genome and biochemical information...
December 1, 2016: Journal of Industrial Microbiology & Biotechnology
https://www.readbyqxmd.com/read/27908400/low-hepatic-copper-content-and-pnpla3-polymorphism-in-non-alcoholic-fatty-liver-disease-in-patients-without-metabolic-syndrome
#9
Albert Friedrich Stättermayer, Stefan Traussnigg, Elmar Aigner, Christian Kienbacher, Ursula Huber-Schönauer, Petra Steindl-Munda, Andreas Stadlmayr, Friedrich Wrba, Michael Trauner, Christian Datz, Peter Ferenci
INTRODUCTION: The pathogenesis of non-alcoholic fatty liver disease (NAFLD) is multifactorial including metabolic, genetic (e.g. PNPLA3 [patatin-like phospholipase domain-containing 3 gene]), viral factors and drugs. Besides, there is evidence for a role of copper deficiency. Aim of the study was to evaluate the role of hepatic copper content, PNPLA3 in NAFLD patients with and without metabolic syndrome (MetS). METHODS: One-hundred seventy-four NAFLD patients, who underwent liver biopsy for diagnostic work-up, were studied...
January 2017: Journal of Trace Elements in Medicine and Biology
https://www.readbyqxmd.com/read/27907186/inter-tissue-gene-co-expression-networks-between-metabolically-healthy-and-unhealthy-obese-individuals
#10
Lisette J A Kogelman, Jingyuan Fu, Lude Franke, Jan Willem Greve, Marten Hofker, Sander S Rensen, Haja N Kadarmideen
BACKGROUND: Obesity is associated with severe co-morbidities such as type 2 diabetes and nonalcoholic steatohepatitis. However, studies have shown that 10-25 percent of the severely obese individuals are metabolically healthy. To date, the identification of genetic factors underlying the metabolically healthy obese (MHO) state is limited. Systems genetics approaches have led to the identification of genes and pathways in complex diseases. Here, we have used such approaches across tissues to detect genes and pathways involved in obesity-induced disease development...
2016: PloS One
https://www.readbyqxmd.com/read/27907090/forkhead-box-c1-regulates-human-primary-keratinocyte-terminal-differentiation
#11
Lianghua Bin, Liehua Deng, Hengwen Yang, Leqing Zhu, Xiao Wang, Michael G Edwards, Brittany Richers, Donald Y M Leung
The epidermis serves as a critical protective barrier between the internal and external environment of the human body. Its remarkable barrier function is established through the keratinocyte (KC) terminal differentiation program. The transcription factors specifically regulating terminal differentiation remain largely unknown. Using a RNA-sequencing (RNA-seq) profiling approach, we found that forkhead box c 1 (FOXC1) was significantly up-regulated in human normal primary KC during the course of differentiation...
2016: PloS One
https://www.readbyqxmd.com/read/27906866/inherited-and-acquired-disorders-of-magnesium-homeostasis
#12
Matthias Tilmann Florian Wolf
PURPOSE OF REVIEW: Magnesium (Mg) imbalances are frequently overlooked. Hypermagnesemia usually occurs in preeclamptic women after Mg therapy or in end-stage renal disease patients, whereas hypomagnesemia is more common with a prevalence of up to 15% in the general population. Increasing evidence points toward a role for mild-to-moderate chronic hypomagnesemia in the pathogenesis of hypertension, type 2 diabetes mellitus, and metabolic syndrome. RECENT FINDINGS: The kidneys are the major regulator of total body Mg homeostasis...
November 30, 2016: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/27906711/polycystic-ovary-syndrome-in-adolescent-girls
#13
Natalie Hecht Baldauff, Selma Feldman Witchel
PURPOSE OF REVIEW: Polycystic ovary syndrome (PCOS) is a common heterogeneous disorder that appears to have its origins during the peripubertal years. The diagnostic conundrum is that the typical clinical features, irregular menses and acne, occur during normal female puberty. Understanding the physiologic origins and molecular basis of the dysregulated hypothalamic-pituitary-gonadal axis in PCOS is fundamental to interrupting the distinctive vicious cycle of hyperandrogenism and chronic anovulation...
November 30, 2016: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/27903826/synthetic-biology-approaches-to-biological-containment-pre-emptively-tackling-potential-risks
#14
REVIEW
Leticia Torres, Antje Krüger, Eszter Csibra, Edoardo Gianni, Vitor B Pinheiro
Biocontainment comprises any strategy applied to ensure that harmful organisms are confined to controlled laboratory conditions and not allowed to escape into the environment. Genetically engineered microorganisms (GEMs), regardless of the nature of the modification and how it was established, have potential human or ecological impact if accidentally leaked or voluntarily released into a natural setting. Although all evidence to date is that GEMs are unable to compete in the environment, the power of synthetic biology to rewrite life requires a pre-emptive strategy to tackle possible unknown risks...
November 30, 2016: Essays in Biochemistry
https://www.readbyqxmd.com/read/27903818/properties-of-alternative-microbial-hosts-used-in-synthetic-biology-towards-the-design-of-a-modular-chassis
#15
REVIEW
Juhyun Kim, Manuel Salvador, Elizabeth Saunders, Jaime González, Claudio Avignone-Rossa, Jose Ignacio Jiménez
The chassis is the cellular host used as a recipient of engineered biological systems in synthetic biology. They are required to propagate the genetic information and to express the genes encoded in it. Despite being an essential element for the appropriate function of genetic circuits, the chassis is rarely considered in their design phase. Consequently, the circuits are transferred to model organisms commonly used in the laboratory, such as Escherichia coli, that may be suboptimal for a required function...
November 30, 2016: Essays in Biochemistry
https://www.readbyqxmd.com/read/27903443/biochemical-and-genetic-basis-of-orsellinic-acid-biosynthesis-and-prenylation-in-a-stereaceous-basidiomycete
#16
Jana Braesel, Janis Fricke, Daniel Schwenk, Dirk Hoffmeister
The prenylphenols are a class of natural products that have been frequently isolated from basidiomycetes, e.g., from the genus Stereum (false turkey tail fungi) and other Russulales as well as from ascomycetes. Biosynthetically, these compounds are considered hybrids, as the orsellinic acid moiety is a polyketide and the prenyl side chain originates from the terpene metabolism, although no literature on the genetic and biochemical background of the biosynthesis is available. In a stereaceous basidiomycete, referred to as BY1, a new prenylphenol, now termed cloquetin, was identified and its structure elucidated by mass spectrometry and nuclear magnetic resonance spectroscopy...
November 27, 2016: Fungal Genetics and Biology: FG & B
https://www.readbyqxmd.com/read/27903293/personalized-medicine-approach-confirms-a-milder-case-of-abat-deficiency
#17
A Besse, A K Petersen, J V Hunter, V Appadurai, S R Lalani, P E Bonnen
ABAT deficiency (OMIM 613163) is a rare inborn error of metabolism caused by recessive variants in the gene 4-aminobutyric acid transaminase (ABAT), which is responsible for both the catalysis of GABA and maintenance of nucleoside pools in the mitochondria. To date, only a few patients have been reported worldwide. Their clinical presentation has been remarkably consistent with primary features of severe psychomotor retardation, encephalopathy, hypotonia, and infantile-onset refractory epilepsy. We report a new case of ABAT deficiency that marks an important departure from previous clinical findings...
December 1, 2016: Molecular Brain
https://www.readbyqxmd.com/read/27902788/fertilization-of-grapevine-based-on-gene-expression
#18
Cheng Zhang, Haifeng Jia, Jingjue Zeng, Tariq Perraiz, Zhenqiang Xie, Xudong Zhu, Chen Wang
The application of genetic information in agricultural production is an important issue, which is highly worthy of attention. Gene expression data can accurately reflect the growth and metabolic status of plants, with which we can predict and monitor the nutritional requirements of plants and then derive accurate fertilization strategies. In this study, to verify the feasibility and workability of gene information-based fertilization strategies and to figure out the specific nutritional requirements of grapevine ( L...
November 2016: Plant Genome
https://www.readbyqxmd.com/read/27902780/co-regulation-of-iron-metabolism-and-virulence-associated-functions-by-iron-and-xibr-a-novel-iron-binding-transcription-factor-in-the-plant-pathogen-xanthomonas
#19
Sheo Shankar Pandey, Pradeep Kumar Patnana, Santosh Kumar Lomada, Archana Tomar, Subhadeep Chatterjee
Abilities of bacterial pathogens to adapt to the iron limitation present in hosts is critical to their virulence. Bacterial pathogens have evolved diverse strategies to coordinately regulate iron metabolism and virulence associated functions to maintain iron homeostasis in response to changing iron availability in the environment. In many bacteria the ferric uptake regulator (Fur) functions as transcription factor that utilize ferrous form of iron as cofactor to regulate transcription of iron metabolism and many cellular functions...
November 2016: PLoS Pathogens
https://www.readbyqxmd.com/read/27902747/joint-profiling-of-mirnas-and-mrnas-reveals-mirna-mediated-gene-regulation-in-the-g%C3%A3-ttingen-minipig-obesity-model
#20
Caroline M Junker Mentzel, Ferhat Alkan, Helle Keinicke, Mette J Jacobsen, Jan Gorodkin, Merete Fredholm, Susanna Cirera
Obesity and its comorbidities are an increasing challenge for both affected individuals and health care systems, worldwide. In obese individuals, perturbation of expression of both protein-coding genes and microRNAs (miRNA) are seen in obesity-relevant tissues (i.e. adipose tissue, liver and skeletal muscle). miRNAs are small non-coding RNA molecules which have important regulatory roles in a wide range of biological processes, including obesity. Rodents are widely used animal models for human diseases including obesity...
2016: PloS One
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