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https://www.readbyqxmd.com/read/28110515/missense-variant-in-uba2-associated-with-aplasia-cutis-congenita-duane-anomaly-hip-dysplasia-and-other-anomalies-a-possible-new-disorder-involving-the-sumoylation-pathway
#1
Michael Marble, Maria J Guillen Sacoto, Rashmi Chikarmane, Dominic Gargiulo, Jane Juusola
We report a patient with aplasia cutis congenita, Duane anomaly, hip dysplasia, and other anomalies who had a de novo missense variant in UBA2, which encodes for a protein involved in the SUMOylation pathway. It has previously been suggested that UBA2 haploinsufficiency underlies scalp defects in the 19q13.11 deletion syndrome. We propose that disturbance of the SUMOylation pathway, mediated by pathogenic variants in UBA2, is a novel mechanism for aplasia cutis congenita and other phenotypic abnormalities. © 2016 Wiley Periodicals, Inc...
January 22, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28110501/worldwide-variability-in-growth-and-its-association-with-health-incorporating-body-composition-developmental-plasticity-and-intergenerational-effects
#2
REVIEW
Jonathan C K Wells
In their seminal book "Worldwide variation in human growth," published in 1976, Eveleth and Tanner highlighted substantial variability within and between populations in the magnitude and schedule of human growth. In the four decades since then, research has clarified why growth variability is so closely associated with human health. First, growth patterns are strongly associated with body composition, both in the short- and long-term. Poor growth in early life constrains the acquisition of lean tissue, while compensatory "catch-up" growth may elevate body fatness...
January 22, 2017: American Journal of Human Biology: the Official Journal of the Human Biology Council
https://www.readbyqxmd.com/read/28110498/neutral-losses-of-sodium-benzoate-and-benzoic-acid-in-the-fragmentation-of-the-m%C3%A2-%C3%A2-na-ions-of-methoxyfenozide-and-tebufenozide-via-intramolecular-rearrangement-in-electrospray-ionization-tandem-mass-spectrometry
#3
Yunfeng Chai, Guanwei Gao, Shanshan Shen, Xin Liu, Chengyin Lu
RATIONALE: Electrospray ionization (ESI) tandem mass spectrometry can be applied to determine structural information about organic compounds. The [M + Na](+) ion is one of the major precursor ions in ESI mass spectrometry, but its fragmentation mechanism study is still insufficient. This study reveals the interesting fragmentation reactions of the [M + Na](+) ions of methoxyfenozide and tebufenozide. METHODS: The fragmentations of the [M + Na](+) , [M + Li](+) , and [M + H](+) ions of methoxyfenozide and tebufenozide were studied using a hybrid quadrupole-orbitrap mass spectrometer and an ion trap mass spectrometer...
February 15, 2017: Rapid Communications in Mass Spectrometry: RCM
https://www.readbyqxmd.com/read/28110470/thermal-control-weather-and-aging
#4
REVIEW
Alexandra Schneider, Regina Rückerl, Susanne Breitner, Kathrin Wolf, Annette Peters
PURPOSE OF THE REVIEW: The purpose of this review is to highlight the latest developments in the field of weather and health with a focus on the elderly. The current state of knowledge is summarized and open questions and emerging fields of research are discussed. RECENT FINDINGS: It is expected that climate change will lead to higher global average surface temperatures and more extreme climatic conditions. Previous studies have shown that non-optimal temperatures are associated with increased morbidity and mortality, specifically in elderly people...
January 21, 2017: Current Environmental Health Reports
https://www.readbyqxmd.com/read/28110457/reduced-proliferation-and-colony-formation-of-head-and-neck-squamous-cell-carcinoma-hnscc-after-dual-targeting-of-egfr-and-hedgehog-pathways
#5
Hannes Liebig, Georg Günther, Marlen Kolb, Christian Mozet, Andreas Boehm, Andreas Dietz, Gunnar Wichmann
PURPOSE: The hedgehog signalling pathway (Hh) is frequently active in head and neck squamous cell carcinoma (HNSCC). Overexpressed Hh associates with poor prognosis. The Hh inhibitor vismodegib targets smoothened, and based on molecular data, may prevent resistance to EGFR targeting. METHODS: To elucidate potential roles of vismodegib in HNSCC therapy, its sole effects and those combined with cisplatin, docetaxel, and cetuximab on HNSCC cell lines were assessed by MTT metabolisation and BrdU incorporation...
January 21, 2017: Cancer Chemotherapy and Pharmacology
https://www.readbyqxmd.com/read/28110427/evaluation-of-inos-icam-1-and-vcam-1-gene-expression-a-study-of-adult-t-cell-leukemia-malignancy-associated-with-htlv-1
#6
Mahdokht Jafarian, Sayed-Hamidreza Mozhgani, Elham Patrad, Hamidreza Vaziri, Seyed Abdolrahim Rezaee, Mohammad Mehdi Aakbarin, Mehdi Norouzi
The main aim of this study was to evaluate the expression of intercellular adhesion molecule-1 (ICAM-1), vascular cell adhesion molecule-1 (VCAM-1), and inducible nitric oxide synthase (iNOS) as host factors, and proviral load as the viral parameter, in adult T-cell leukemia/lymphoma (ATLL) individuals and healthy carrier (HC(s)) groups. Peripheral blood mononuclear cells (PBMC) from ATLL patients (n = 17) and HC subjects (as the control group, n = 17) were evaluated using real-time PCR to determine the levels of HTLV-1 proviral load and mRNA expression of ICAM, VCAM-1, and iNOS...
January 21, 2017: Archives of Virology
https://www.readbyqxmd.com/read/28110416/lasiokaurin-derivatives-synthesis-antimicrobial-and-antitumor-biological-evaluation-and-apoptosis-inducing-effects
#7
Da-Hong Li, Ping Hu, Sheng-Tao Xu, Chun-Yan Fang, Shuang Tang, Xin-Yu Wang, Xing-Yan Sun, He Li, Ying Xu, Xiao-Ke Gu, Jin-Yi Xu
Herein, a series of lasiokaurin derivatives were designed and synthesized. All the derivatives together with lasiokaurin and oridonin were tested for their antimicrobial and antiproliferative activity. Compound 16 showed the most promising antimicrobial activity with MICs of 2.0 and 1.0 μg/mL against Gram-Positive bacteria S. aureus and B. subtilis, respectively. All the synthetic lasiokaurin derivatives showed better antiproliferative activity than parent compound lasiokaurin 1. Compound 10 exhibited the strongest cytotoxicity with IC50 values of 0...
January 21, 2017: Archives of Pharmacal Research
https://www.readbyqxmd.com/read/28110389/a-novel-lectin-from-artocarpus-lingnanensis-induces-proliferation-and-th1-th2-cytokine-secretion-through-cd45-signaling-pathway-in-human-t-lymphocytes
#8
Bo Cui, Lu Li, Qiyan Zeng, Faquan Lin, Lijun Yin, Liejun Liao, Min Huang, Jingping Wang
Lectins are carbohydrate-binding proteins and have been used for purification and characterization of glycoproteins. In this study, a novel 58.9-kDa tetrameric lectin from Artocarpus lingnanensis seeds was purified, characterized, and its mitogenic potential was evaluated. The hemagglutination inhibition assay indicated that Artocarpus lingnanensis lectin (ALL) showed specificity toward galactose. ALL was effectively purified in a single-step using affinity chromatography on a galactose-Sepharose column. ALL showed pH optima between 5...
January 21, 2017: Journal of Natural Medicines
https://www.readbyqxmd.com/read/28110354/molecular-modelling-approaches-for-the-analysis-of-histamine-receptors-and-their-interaction-with-ligands
#9
Andrea Strasser, Hans-Joachim Wittmann
Several experimental techniques to analyse histamine receptors are available, e.g. pharmacological characterisation of known or new compounds by different types of assays or mutagenesis studies. To obtain insights into the histamine receptors on a molecular and structural level, crystal structures have to be determined and molecular modelling studies have to be performed. It is widely accepted to generate homology models of the receptor of interest based on an appropriate crystal structure as a template and to refine the resulting models by molecular dynamic simulations...
January 22, 2017: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/28110353/a-role-for-sigma-receptors-in-stimulant-self-administration-and-addiction
#10
Jonathan L Katz, Takato Hiranita, Weimin C Hong, Martin O Job, Christopher R McCurdy
Sigma receptors (σRs) are structurally unique proteins that function intracellularly as chaperones. Historically, σRs have been implicated as modulators of psychomotor stimulant effects and have at times been proposed as potential avenues for modifying stimulant abuse. However, the influence of ligands for σRs on the effects of stimulants, such as cocaine or methamphetamine, in various preclinical procedures related to drug abuse has been varied. The present paper reviews the effects of σR agonists and antagonists in three particularly relevant procedures: stimulant discrimination, place conditioning, and self-administration...
January 22, 2017: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/28110342/tgf-%C3%AE-1-smad3-signaling-pathway-suppresses-cell-apoptosis-in-cerebral-ischemic-stroke-rats
#11
Haiping Zhu, Qunfeng Gui, Xiaobo Hui, Xiaodong Wang, Jian Jiang, Lianshu Ding, Xiaoyang Sun, Yanping Wang, Huaqun Chen
BACKGROUND We desired to observe the changes of transforming growth factor-β1/drosophila mothers against decapentaplegic protein (TGF-β1/Smad3) signaling pathway in the hippocampus region of cerebral ischemic stroke rats so that the effects of this pathway on nerve cells can be investigated. MATERIAL AND METHODS The ischemic stroke models were built by middle cerebral artery occlusion (MCAO) in vivo and oxygen-glucose deprivation (OGD) in vitro. TGF-β1 and TGF-β1 inhibitors were injected into rat models while TGF-β1, TGF-β1 siRNA, Smad3, and Smad3 siRNA were transfected into cells...
January 22, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28110332/role-of-insulin-in-placental-transport-of-nutrients-in-gestational-diabetes-mellitus
#12
María Ruiz-Palacios, Antonio José Ruiz-Alcaraz, María Sanchez-Campillo, Elvira Larqué
BACKGROUND: Gestational diabetes mellitus (GDM) is associated with increased fetal adiposity, which may increase the risk of obesity in adulthood. The placenta has insulin receptors and maternal insulin can activate its signaling pathways, affecting the transport of nutrients to the fetus. However, the effects of diet or insulin treatment on the placental pathophysiology of GDM are unknown. SUMMARY: There are very few studies on possible defects in the insulin signaling pathway in the GDM placenta...
January 21, 2017: Annals of Nutrition & Metabolism
https://www.readbyqxmd.com/read/28110320/acute-on-chronic-liver-failure-recent-update
#13
Alam Azeem, Chun Suen Ka, Ma Daqing
Acute on chronic liver failure (ACLF) was first described in 1995 as a clinical syndrome distinct to classic acute decompensation. Characterized by complications of decompensation, ACLF occurs on a background of chronic liver dysfunction and is associated with high rates of organ failure and significant short-term mortality estimated between 45% and 90%. Despite the clinical relevance of the condition, it still remains largely undefined with continued disagreement regarding its precise etiological factors, clinical course, prognostic criteria and management pathways...
January 19, 2017: Journal of Biomedical Research
https://www.readbyqxmd.com/read/28110319/perioperative-remote-acute-lung-injury-recent-update
#14
Jin Zhaosheng, Suen Ka Chun, Ma Daqing
Perioperative acute lung injury (ALI) is a syndrome characterised by hypoxia and chest radiograph changes. It is a serious post-operative complication, associated with considerable mortality and morbidity. In addition to mechanical ventilation, remote organ insult could also trigger systemic responses which induce ALI. Currently, there are limited treatment options available beyond conservative respiratory support. However, increasing understanding of the pathophysiology of ALI and the biochemical pathways involved will aid the development of novel treatments and help to improve patient outcome as well as to reduce cost to the health service...
January 19, 2017: Journal of Biomedical Research
https://www.readbyqxmd.com/read/28110316/insensitivity-of-pi3k-akt-gsk3-signaling-in-peripheral-blood-mononuclear-cells-of-age-related-macular-degeneration-patients
#15
Liu Xunxian, Yao Zemin
Our recent studies with cultured retinal pigment epithelium cells suggested that overexpression of interleukin 17 receptor C (IL-17RC), a phenomenon observed in peripheral blood and chorioretinal tissues with age-related macular degeneration (AMD), was associated with altered activation of phosphatidylinositide 3-kinase (PI3K), Akt, and glycogen synthase kinase 3 (GSK3). We wondered whether or not altered PI3K, Akt, and GSK3 activities could be detected in peripheral blood mononuclear cells (PBMC) obtained from AMD patients...
January 19, 2017: Journal of Biomedical Research
https://www.readbyqxmd.com/read/28110279/walking-the-c4-pathway-past-present-and-future
#16
REVIEW
Robert T Furbank
The year 2016 marks 50 years since the publication of the seminal paper by Hatch and Slack describing the biochemical pathway we now know as C4 photosynthesis. This review provides insight into the initial discovery of this pathway, the clues which led Hatch and Slack and others to these definitive experiments, some of the intrigue which surrounds the international activities which led up to the discovery, and personal insights into the future of this research field. While the biochemical understanding of the basic pathways came quickly, the role of the bundle sheath intermediate CO2 pool was not understood for a number of years, and the nature of C4 as a biochemical CO2 pump then linked the unique Kranz anatomy of C4 plants to their biochemical specialization...
January 2017: Journal of Experimental Botany
https://www.readbyqxmd.com/read/28110278/a-portrait-of-the-c4-photosynthetic-family-on-the-50th-anniversary-of-its-discovery-species-number-evolutionary-lineages-and-hall-of-fame
#17
REVIEW
Rowan F Sage
Fifty years ago, the C4 photosynthetic pathway was first characterized. In the subsequent five decades, much has been learned about C4 plants, such that it is now possible to place nearly all C4 species into their respective evolutionary lineages. Sixty-one independent lineages of C4 photosynthesis are identified, with additional, ancillary C4 origins possible in 12 of these principal lineages. The lineages produced ~8100 C4 species (5044 grasses, 1322 sedges, and 1777 eudicots). Using midpoints of stem and crown node dates in their respective phylogenies, the oldest and most speciose C4 lineage is the grass lineage Chloridoideae, estimated to be near 30 million years old...
January 2017: Journal of Experimental Botany
https://www.readbyqxmd.com/read/28110276/photosynthesis-in-c3-c4-intermediate-moricandia-species
#18
Urte Schlüter, Andrea Bräutigam, Udo Gowik, Michael Melzer, Pascal-Antoine Christin, Samantha Kurz, Tabea Mettler-Altmann, Andreas Pm Weber
Evolution of C4 photosynthesis is not distributed evenly in the plant kingdom. Particularly interesting is the situation in the Brassicaceae, because the family contains no C4 species, but several C3-C4 intermediates, mainly in the genus Moricandia Investigation of leaf anatomy, gas exchange parameters, the metabolome, and the transcriptome of two C3-C4 intermediate Moricandia species, M. arvensis and M. suffruticosa, and their close C3 relative M. moricandioides enabled us to unravel the specific C3-C4 characteristics in these Moricandia lines...
January 2017: Journal of Experimental Botany
https://www.readbyqxmd.com/read/28110274/c4-photosynthesis-50-years-of-discovery-and-innovation
#19
EDITORIAL
Susanne von Caemmerer, Oula Ghannoum, Robert T Furbank
It is now over half a century since the biochemical characterization of the C4 photosynthetic pathway, and this special issue highlights the sheer breadth of current knowledge. New genomic and transcriptomic information shows that multi-level regulation of gene expression is required for the pathway to function, yet we know it to be one of the most dynamic examples of convergent evolution. Now, a focus on the molecular transition from C3-C4 intermediates, together with improved mathematical models, experimental tools and transformation systems, holds great promise for improving C4 photosynthesis in crops...
January 2017: Journal of Experimental Botany
https://www.readbyqxmd.com/read/28110268/metabolic-and-physiological-adjustment-of-suaeda-maritima-to-combined-salinity-and-hypoxia
#20
Jan H Behr, Alain Bouchereau, Solenne Berardocco, Charlotte E Seal, Timothy J Flowers, Christian Zörb
BACKGROUND AND AIMS: Suaeda maritima is a halophyte commonly found on coastal wetlands in the intertidal zone. Due to its habitat S. maritima has evolved tolerance to high salt concentrations and hypoxic conditions in the soil caused by periodic flooding. In the present work, the adaptive mechanisms of S. maritima to salinity combined with hypoxia were investigated on a physiological and metabolic level. METHODS: To compare the adaptive mechanisms to deficient, optimal and stressful salt concentrations, S...
January 20, 2017: Annals of Botany
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