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https://www.readbyqxmd.com/read/28729668/novel-fam83h-mutations-in-patients-with-amelogenesis-imperfecta
#1
Wang Xin, Wang Wenjun, Qin Man, Zhao Yuming
Amelogenesis imperfecta (AI), characterized by a deficiency in the quantity and/or quality of dental enamel, is genetically heterogeneous and phenotypically variable. The most severe type, hypocalcified AI, is mostly caused by truncating mutations in the FAM83H gene. This study aimed to identify genetic mutations in four Chinese families with hypocalcified AI. We performed mutation analysis by sequencing the candidate FAM83H gene. Three novel mutations (c.931dupC, p.V311Rfs*13; c.1130_1131delinsAA, p.S377X; and c...
July 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28729415/an-essential-role-for-the-tumor-suppressor-merlin-in-regulating-fatty-acid-synthesis
#2
Dina S Stepanova, Galina Semenova, Yin-Ming Kuo, Andrew J Andrews, Sylwia Ammoun, C Oliver Hanemann, Jonathan Chernoff
Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterized by the development of multiple tumors in the central nervous system, most notably schwannomas and meningiomas. Mutational inactivation of the NF2 gene encoding the protein Merlin is found in most sporadic and inherited schwannomas, but the molecular mechanisms underlying neoplastic changes in schwannoma cells remain unclear. We report here that NF2-deficient cells display elevated expression levels of key enzymes involved in lipogenesis and that this upregulation is caused by increased activity of Torc1...
July 20, 2017: Cancer Research
https://www.readbyqxmd.com/read/28729303/amotosalen-uva-pathogen-inactivation-technology-reduces-platelet-activatability-induces-apoptosis-and-accelerates-clearance
#3
Simona Stivala, Sara Gobbato, Laura Infanti, Martin F Reiner, Nicole Bonetti, Sara C Meyer, Giovanni G Camici, Thomas F Lüscher, Andreas Buser, Jürg H Beer
Amotosalen and ultraviolet A photochemical-based pathogen reduction using the InterceptTM Blood System is an effective and established technology for platelet and plasma components, which is adopted in more than 40 countries worldwide. Several reports point towards a reduced platelet function after Amotosalen/UVA exposure. The current study was undertaken to identify the mechanisms responsible for the early impairment of platelet function by the InterceptTM Blood System. Twenty-five platelet apheresis units were collected from healthy volunteers following standard procedures and split into 2 components, one untreated and the other treated with Amotosalen/UVA...
July 20, 2017: Haematologica
https://www.readbyqxmd.com/read/28728837/epileptic-apnea-in-a-patient-with-inherited-glycosylphosphatidylinositol-anchor-deficiency-and-pigt-mutations
#4
Kosuke Kohashi, Akihiko Ishiyama, Shota Yuasa, Tomomi Tanaka, Kazushi Miya, Yuichi Adachi, Noriko Sato, Hirotomo Saitsu, Chihiro Ohba, Naomichi Matsumoto, Yoshiko Murakami, Taroh Kinoshita, Kenji Sugai, Masayuki Sasaki
We report an 11-month-old boy with acetazolamide-responsive epileptic apnea and inherited glycosylphosphatidylinositol (GPI)-anchor deficiency who presented with decreased serum alkaline phosphatase associated with compound PIGT mutations. The patient exhibited congenital anomalies, severe intellectual disability, and seizures, including epileptic apnea with epileptiform discharges from bilateral temporal areas. Brain magnetic resonance imaging revealed delayed myelination and progressive atrophy of the brainstem, cerebellum, and cerebrum...
July 17, 2017: Brain & Development
https://www.readbyqxmd.com/read/28727775/adolescent-health-in-rural-ghana-a-cross-sectional-study-on-the-co-occurrence-of-infectious-diseases-malnutrition-and-cardio-metabolic-risk-factors
#5
Marie Alicke, Justice K Boakye-Appiah, Inusah Abdul-Jalil, Andrea Henze, Markus van der Giet, Matthias B Schulze, Florian J Schweigert, Frank P Mockenhaupt, George Bedu-Addo, Ina Danquah
In sub-Saharan Africa, infectious diseases and malnutrition constitute the main health problems in children, while adolescents and adults are increasingly facing cardio-metabolic conditions. Among adolescents as the largest population group in this region, we investigated the co-occurrence of infectious diseases, malnutrition and cardio-metabolic risk factors (CRFs), and evaluated demographic, socio-economic and medical risk factors for these entities. In a cross-sectional study among 188 adolescents in rural Ghana, malarial infection, common infectious diseases and Body Mass Index were assessed...
2017: PloS One
https://www.readbyqxmd.com/read/28727686/fbxw7-regulates-disc1-stability-via-the-ubiquitin-proteosome-system
#6
K Yalla, C Elliott, J P Day, J Findlay, S Barratt, Z A Hughes, L Wilson, E Whiteley, M Popiolek, Y Li, J Dunlop, R Killick, D R Adams, N J Brandon, M D Houslay, B Hao, G S Baillie
Disrupted in schizophrenia 1 (DISC1) is a multi-functional scaffolding protein that has been associated with neuropsychiatric disease. The role of DISC1 is to assemble protein complexes that promote neural development and signaling, hence tight control of the concentration of cellular DISC1 in neurons is vital to brain function. Using structural and biochemical techniques, we show for we believe the first time that not only is DISC1 turnover elicited by the ubiquitin proteasome system (UPS) but that it is orchestrated by the F-Box protein, FBXW7...
July 20, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28727155/mucosal-associated-invariant-mait-cells-are-deficient-in-systemic-sclerosis
#7
Arsène Mekinian, Thibaut Mahevas, Mohamad Mohty, Vincent Jachiet, Sébastien Rivière, Olivier Fain, Béatrice Gaugler
OBJECTIVES: Systemic sclerosis (SSc) is an autoimmune disease, characterized by fibrosis of the skin and other organs, vascular impairment and deficient immune responses. Mucosal associated invariant T cells (MAIT) cells have been involved in various inflammatory and autoimmune diseases. The aim of this study was to determine the frequencies of MAIT cells in the blood of patients with systemic sclerosis (SSc), and to compare their distribution in the different types of SSc. PATIENTS AND METHODS: Blood samples from SSc patients and healthy controls were examined by flow cytometer to analyze the frequencies of MAIT and γδ T cells...
July 18, 2017: Scandinavian Journal of Immunology
https://www.readbyqxmd.com/read/28727119/nitrogen-from-ammonia-is-as-efficient-as-that-from-free-amino-acids-or-protein-for-improving-growth-performance-of-pigs-fed-diets-deficient-in-nonessential-amino-acid-nitrogen
#8
W D Mansilla, J K Htoo, C F M de Lange
Inclusion of NPN in diets may compensate the deficient supply of nonessential AA (NEAA) in very low CP levels. To assess this, 2 studies were conducted to determine the effect of supplementing NPN and specific NEAA to diets severely deficient in NEAA nitrogen (NEAA-N) on growth performance of pigs. In Exp. 1, 48 gilts (initial BW 15.2 ± 1.3 kg; 2 pigs per pen; 6 pens per treatment) were randomly assigned to 1 of the 4 dietary treatments: 1) positive control (Pos Ctrl), not deficient in essential AA (EAA) and total N, with all N supplied from intact protein (casein and soybean meal) or crystalline EAA, (2) negative control (Neg Ctrl), supplying the same amount of potentially limiting EAA as Pos Ctrl but deficient in NEAA-N, 3) Neg Ctrl plus 1...
July 2017: Journal of Animal Science
https://www.readbyqxmd.com/read/28727085/impact-of-microbial-efficiency-to-predict-mp-supply-when-estimating-protein-requirements-of-growing-beef-cattle-from-performance
#9
A K Watson, T J Klopfenstein, G E Erickson, J C MacDonald, V A Wilkerson
Data from 16 trials were compiled to calculate microbial CP (MCP) production and MP requirements of growing cattle on high-forage diets. All cattle were individually fed diets with 28% to 72% corn cobs in addition to either alfalfa, corn silage, or sorghum silage at 18% to 60% of the diet (DM basis). The remainder of the diet consisted of protein supplement. Source of protein within the supplement varied and included urea, blood meal, corn gluten meal, dry distillers grains, feather meal, meat and bone meal, poultry by-product meal, soybean meal, and wet distillers grains...
July 2017: Journal of Animal Science
https://www.readbyqxmd.com/read/28726985/influence-of-dietary-crude-protein-and-phosphorus-on-ileal-digestion-of-phosphorus-and-amino-acids-in-growing-pigs
#10
P C Xue, D Ragland, O Adeola
A study was conducted to investigate the effect of dietary CP levels on ileal P digestion in growing pigs. A total of 18 ileal-cannulated pigs (44.2 ± 3.2 kg initial BW) were used in a duplicated 9 × 3 incomplete Latin square design, with 9 treatments and three 7-d experimental periods giving 6 replicates per treatment. The 9 treatments consisted of 1 N-free diet to estimate basal endogenous loss of AA and 8 corn-soybean meal-based diets in a 2 × 4 factorial arrangement, which included 2 CP levels (6.9 or 13...
May 2017: Journal of Animal Science
https://www.readbyqxmd.com/read/28726640/c1q-tnf-related-protein-6-ctrp6-links-obesity-to-adipose-tissue-inflammation-and-insulin-resistance
#11
Xia Lei, Marcus M Seldin, Hannah C Little, Nicholas Choy, Thomas Klonisch, G William Wong
Obesity is associated with chronic low-grade inflammation, and metabolic regulators linking obesity to inflammation have therefore received much attention. Secreted C1q/TNF-related proteins (CTRPs) are one such group of regulators that regulate glucose and fat metabolism in peripheral tissues and modulate inflammation in adipose tissue. We have previously shown that expression of CTRP6 is up-regulated in leptin-deficient mice and, conversely, down-regulated by the anti-diabetic drug, rosiglitazone. Here, we provide evidence for a novel role of CTRP6 in modulating both inflammation and insulin sensitivity...
July 18, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28726545/the-t-6-a-modification-acts-as-a-positive-determinant-for-the-anticodon-nuclease-prrc-and-is-distinctively-nonessential-in-streptococcus-mutans
#12
Jo Marie Bacusmo, Silvia S Orsini, Jennifer Hu, Michael DeMott, Patrick C Thiaville, Ameer Elfarash, Mellie June Paulines, Diego Rojas-Benítez, Birthe Meineke, Chris Deutsch, Dirk Iwata-Reuyl, Patrick A Limbach, Peter C Dedon, Kelly C Rice, Stewart Shuman, Valérie de Crécy-Lagard
Endoribonuclease toxins (ribotoxins) are produced by bacteria and fungi to respond to stress, eliminate non-self competitor species, or interdict virus infection. PrrC is a bacterial ribotoxin that targets and cleaves tRNA(Lys)UUU in the anticodon loop. In vitro studies suggested that the post-transcriptional modification threonylcarbamoyl adenosine (t(6)A) is required for PrrC activity but this prediction had never been validated in vivo. Here, by using t(6)A-deficient yeast derivatives, it is shown that t(6)A is a positive determinant for PrrC proteins from various bacterial species...
July 20, 2017: RNA Biology
https://www.readbyqxmd.com/read/28725012/phycocyanin-attenuates-pulmonary-fibrosis-via-the-tlr2-myd88-nf-%C3%AE%C2%BAb-signaling-pathway
#13
Chengcheng Li, Yan Yu, Wenjun Li, Bo Liu, Xudong Jiao, Xinyu Song, Changjun Lv, Song Qin
Our aim was to investigate the effects of phycocyanin (PC) on bleomycin (BLM)-induced pulmonary fibrosis (PF). In this study, C57 BL/6 wild-type (WT) mice and toll-like receptor (TLR) 2 deficient mice were treated with PC for 28 days following BLM exposure. Serum and lung tissues were collected on days 3, 7 and 28. Data shows PC significantly decreased the levels of hydroxyproline (HYP), vimentin, surfactant-associated protein C (SP-C), fibroblast specific protein-1 (S100A4) and α-smooth muscle actin (α-SMA) but dramatically increased E-cadherin and podoplanin (PDPN) expression on day 28...
July 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28724793/a-bag3-chaperone-complex-maintains-cardiomyocyte-function-during-proteotoxic-stress
#14
Luke M Judge, Juan A Perez-Bermejo, Annie Truong, Alexandre Js Ribeiro, Jennie C Yoo, Christina L Jensen, Mohammad A Mandegar, Nathaniel Huebsch, Robyn M Kaake, Po-Lin So, Deepak Srivastava, Beth L Pruitt, Nevan J Krogan, Bruce R Conklin
Molecular chaperones regulate quality control in the human proteome, pathways that have been implicated in many diseases, including heart failure. Mutations in the BAG3 gene, which encodes a co-chaperone protein, have been associated with heart failure due to both inherited and sporadic dilated cardiomyopathy. Familial BAG3 mutations are autosomal dominant and frequently cause truncation of the coding sequence, suggesting a heterozygous loss-of-function mechanism. However, heterozygous knockout of the murine BAG3 gene did not cause a detectable phenotype...
July 20, 2017: JCI Insight
https://www.readbyqxmd.com/read/28724525/trim37-a-novel-e3-ligase-for-pex5-mediated-peroxisomal-matrix-protein-import
#15
Wei Wang, Zhi-Jie Xia, Jean-Claude Farré, Suresh Subramani
Most proteins destined for the peroxisomal matrix depend on the peroxisomal targeting signals (PTSs), which require the PTS receptor PEX5, whose deficiency causes fatal human peroxisomal biogenesis disorders (PBDs). TRIM37 gene mutations cause muscle-liver-brain-eye (mulibrey) nanism. We found that TRIM37 localizes in peroxisomal membranes and ubiquitylates PEX5 at K464 by interacting with its C-terminal 51 amino acids (CT51), which is required for PTS protein import. PEX5 mutations (K464A or ΔCT51), or TRIM37 depletion or mutation, reduce PEX5 abundance by promoting its proteasomal degradation, thereby impairing its functions in cargo binding and PTS protein import in human cells...
July 19, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28723662/acetyl-lupeolic-acid-inhibits-akt-signaling-and-induces-apoptosis-in-chemoresistant-prostate-cancer-cells-in-vitro-and-in-vivo
#16
Claudia Schmidt, Cornelia Loos, Lu Jin, Michael Schmiech, Christoph Q Schmidt, Menna El Gaafary, Tatiana Syrovets, Thomas Simmet
The triterpenoid acetyl-lupeolic acid (ac-LA) isolated from the oleogum resin of Boswellia carterii reduced the viability of a panel of cancer cell lines more efficiently than lupeol. There was no detectable intracellular conversion of ac-LA to lupeol and vice versa. In contrast to docetaxel, ac-LA did not induce selection of treatment-resistant cancer cells. By various parameters including DNA fragmentation, ac-LA was shown to induce apoptosis in androgen-independent PC-3 cells, whereas in MDA-MB-231 breast cancer cells, ac-LA led to cell accumulation in the G2/M phase of the cell cycle, but not to apoptosis...
July 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28723566/genome-wide-rnai-screen-for-fat-regulatory-genes-in-c-%C3%A2-elegans-identifies-a-proteostasis-ampk-axis-critical-for-starvation-survival
#17
Christopher M Webster, Elizabeth C Pino, Christopher E Carr, Lianfeng Wu, Ben Zhou, Lucydalila Cedillo, Michael C Kacergis, Sean P Curran, Alexander A Soukas
Organisms must execute metabolic defenses to survive nutrient deprivation. We performed a genome-wide RNAi screen in Caenorhabditis elegans to identify fat regulatory genes indispensable for starvation resistance. Here, we show that opposing proteostasis pathways are principal determinants of starvation survival. Reduced function of cytoplasmic aminoacyl tRNA synthetases (ARS genes) increases fat mass and extends starvation survival, whereas reduced proteasomal function reduces fat and starvation survival. These opposing pathways converge on AMP-activated protein kinase (AMPK) as the critical effector of starvation defenses...
July 18, 2017: Cell Reports
https://www.readbyqxmd.com/read/28721139/vitamin-d-deficiency-and-non-lipid-biomarkers-of-cardiovascular-risk
#18
Kamil F Faridi, Joshua R Lupton, Seth S Martin, Maciej Banach, Renato Quispe, Krishnaji Kulkarni, Steven R Jones, Erin D Michos
INTRODUCTION: Deficient 25-hydroxyvitamin D (25(OH)D) levels have been associated with dyslipidemia and cardiovascular diseases, though the underlying mechanism of these associations is uncertain. We analyzed associations between vitamin D and other non-lipid biomarkers of cardiovascular risk to better elucidate possible relationships between deficient 25(OH)D and cardiovascular disease. MATERIAL AND METHODS: We performed a cross-sectional analysis of 4,591 adults included in a clinical laboratory database from 2009 to 2011 with available measurements for 25(OH)D and the following biomarkers: homocysteine (Hcy), high-sensitivity C-reactive protein (hs-CRP), cystatin-C, creatinine, γ-glutamyltransferase (GGT), uric acid, and hemoglobin A1c (HbA1c)...
June 2017: Archives of Medical Science: AMS
https://www.readbyqxmd.com/read/28720840/positioning-of-the-scrambled-receptor-requires-udp-glc-sterol-glucosyltransferase-80b1-in-arabidopsis-roots
#19
Victoria G Pook, Meera Nair, KookHui Ryu, James C Arpin, John Schiefelbein, Kathrin Schrick, Seth DeBolt
The biological function of sterol glucosides (SGs), the most abundant sterol derivatives in higher plants, remains uncertain. In an effort to improve our understanding of these membrane lipids we examined phenotypes exhibited by the roots of Arabidopsis (Arabidopsis thaliana) lines carrying insertions in the UDP-Glc:sterol glucosyltransferase genes, UGT80A2 and UGT80B1. We show that although ugt80A2 mutants exhibit significantly lower levels of total SGs they are morphologically indistinguishable from wild-type plants...
July 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28716987/control-of-pathological-cardiac-hypertrophy-by-transcriptional-corepressor-irf2bp2-interferon-regulatory-factor-2-binding-protein-2
#20
Jing Fang, Tianyu Li, Xuehai Zhu, Ke-Qiong Deng, Yan-Xiao Ji, Chun Fang, Xiao-Jing Zhang, Jun-Hong Guo, Peng Zhang, Hongliang Li, Xiang Wei
The transcription factor nuclear factor of activated T-cells 1 (NFAT1), with the aid of transcriptional coactivators, has been recognized for its necessity and sufficiency to drive pathological cardiac hypertrophy. However, how the transcriptional activity of NFAT1 in terms of cardiac hypertrophy is controlled at the transcriptional level has not been well defined. Herein, we showed that a cardiac-enriched protein IRF2BP2 (interferon regulatory factor-2 binding protein 2) was further upregulated in both human and mouse hypertrophied myocardium and negatively regulated cardiomyocyte hypertrophic response in vitro...
July 17, 2017: Hypertension
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