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protein C deficiency

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https://www.readbyqxmd.com/read/27932551/antigen-unmasking-enhances-visualization-efficacy-of-the-oocyte-activation-factor-phospholipase-c-zeta-in-mammalian-sperm
#1
Junaid Kashir, Luke Buntwal, Michail Nomikos, Brian L Calver, Panagiotis Stamatiadis, Peter Ashley, Vyronia Vassilakopoulou, David Sanders, Paul Knaggs, Evangelia Livaniou, Adnan Bunkheila, Karl Swann, F Anthony Lai
STUDY QUESTION: Is it possible to improve clinical visualization of phospholipase C zeta (PLCζ) as a diagnostic marker of sperm oocyte activation capacity and male fertility? SUMMARY ANSWER: Poor PLCζ visualization efficacy using current protocols may be due to steric or conformational occlusion of native PLCζ, hindering antibody access, and is significantly enhanced using antigen unmasking/retrieval (AUM) protocols. WHAT IS KNOWN ALREADY: Mammalian oocyte activation is mediated via a series of intracellular calcium (Ca(2+)) oscillations induced by sperm-specific PLCζ...
December 8, 2016: Molecular Human Reproduction
https://www.readbyqxmd.com/read/27932520/myeloid-derived-nf-%C3%AE%C2%BAb-negative-regulation-of-pu-1-and-c-ebp-%C3%AE-driven-pro-inflammatory-cytokine-production-restrains-lps-induced-shock
#2
Simone Vanoni, Yi-Ting Tsai, Amanda Waddell, Lisa Waggoner, Jared Klarquist, Senad Divanovic, Kasper Hoebe, Kris A Steinbrecher, Simon P Hogan
Sepsis is a life-threatening event predominantly caused by Gram-negative bacteria. Bacterial infection causes a pronounced macrophage (MΦ) and dendritic cell activation that leads to excessive pro-inflammatory cytokine IL-1β, IL-6 and TNF-α production (cytokine storm), resulting in endotoxic shock. Previous experimental studies have revealed that inhibiting NF-κB signaling ameliorates disease symptoms; however, the contribution of myeloid p65 in endotoxic shock remains elusive. In this study, we demonstrate increased mortality in mice lacking p65 in the myeloid lineage (p65(Δmye)) compared with wild type mice upon ultra-pure LPS challenge...
December 8, 2016: Innate Immunity
https://www.readbyqxmd.com/read/27932490/c-terminus-of-the-p4-atpase-atp8a2-functions-in-protein-folding-and-regulation-of-phospholipid-flippase-activity
#3
Madhavan Chalat, Kody Moleschi, Robert S Molday
ATP8A2 is a P4-ATPase that flips phosphatidylserine and phosphatidylethanolamine across cell membranes. This generates membrane phospholipid asymmetry, a property important in many cellular processes including vesicle trafficking. ATP8A2 deficiency causes severe neurodegenerative diseases. We have investigated the role of the C-terminus of ATP8A2 in its expression, subcellular localization, interaction with its subunit CDC50A, and function as a phosphatidylserine flippase. C-terminal deletion mutants exhibited a reduced tendency to solubilize in mild detergent and exit the endoplasmic reticulum...
December 8, 2016: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/27932449/oral-iron-treatment-response-and-predictors-in-anaemic-adolescents-and-adults-with-ibd-a-prospective-controlled-open-label-trial
#4
David S Rampton, James R Goodhand, Neerav M Joshi, Abu-Bakarr Karim, Yasmine Koodun, Farah M Barakat, Lucia Macken, Douglas G Ward, Tariq H Iqbal, Jenny Epstein, John M Fell, Ian R Sanderson
BACKGROUND: Because of previous concerns about the efficacy and safety of oral iron for treating iron deficiency anaemia in IBD, particularly in young people, we compared the effects of ferrous sulphate on haemoglobin response, disease activity and psychometric scores in adolescents and adults with IBD. We also assessed the relation of baseline serum hepcidin to haemoglobin response. METHODS: We undertook a prospective, open-label, 6-week non-inferiority trial of the effects of ferrous sulphate 200mg twice daily on haemoglobin, iron status, hepcidin, disease activity (Harvey-Bradshaw Index, Simple Colitis Clinical Activity Index, C-reactive protein (CRP), faecal calprotectin and psychometric scores in 45 adolescents (age 13-18 years) and 43 adults (>18 years)...
December 7, 2016: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/27931749/-hereditary-epidermolysis-bullosa-french-national-guidelines-pnds-for-diagnosis-and-treatment
#5
C Chiaverini, E Bourrat, J Mazereeuw-Hautier, S Hadj-Rabia, C Bodemer, J-P Lacour
Hereditary epidermolysis bullosa (EB) is a heterogeneous group of rare genetic diseases characterized by fragile skin and/or mucous membrane, and it may be either local or generalized. It is caused by mutations in genes encoding different proteins involved mainly in the structure and function of the dermal-epidermal junction. Nineteen genes have so far been identified. They are classified by level of skin cleavage (from top to bottom) into four groups: EB simplex, junctional EB, dystrophic EB and Kindler syndrome...
December 5, 2016: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/27931588/evaluation-of-mannose-binding-lectin-is-a-useful-approach-to-predict-the-risk-of-infectious-complications-following-autologous-hematopoietic-stem-cell-transplantation
#6
Z B Radnay, M Udvardy, M Papp, J Hársfalvi, L Rejto, I Pál, Á Illés, A Kiss
Hematopoietic stem cell transplantation (HSCT) associated immunocompromised state carries high risk of infectious complications. Mannose-binding lectin (MBL) is an acute phase protein involved in innate immune response. Serum MBL level is genetically determined and quite stable. According to literature, significant association was shown between low MBL concentrations and serious infections. The association between serum MBL level and frequency and severity of infections was studied in 186 patients following autologous HSCT...
December 2016: Transplantation Proceedings
https://www.readbyqxmd.com/read/27930322/casitas-b-cell-lymphoma-cbl-proteins-protect-mammary-epithelial-cells-from-proteotoxicity-of-active-c-src-accumulation
#7
Chandrani Mukhopadhyay, Aleata Triplett, Tom Bargar, Carol Heckman, Kay-Uwe Wagner, Mayumi Naramura
Casitas B-cell lymphoma (Cbl) family ubiquitin ligases negatively regulate tyrosine kinase-dependent signal transduction by promoting degradation of active kinases. We and others previously reported that loss of Cbl functions caused hyperproliferation in lymphoid and hematopoietic systems. Unexpectedly, Cbl deletion in Cbl-b-null, Cbl-c-null primary mouse mammary epithelial cells (MECs) (Cbl triple-deficiency) induced rapid cell death despite enhanced MAP kinase and AKT activation. Acute Cbl triple-deficiency elicited distinct transcriptional and biochemical responses with partial overlap with previously described cellular reactions to unfolded proteins and oxidative stress...
December 5, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27928891/early-deterioration-of-iron-status-among-a-cohort-of-bolivian-infants
#8
Rachel M Burke, Paulina A Rebolledo, Anna M Fabiszewski de Aceituno, Rita Revollo, Volga Iñiguez, Mitchel Klein, Carolyn Drews-Botsch, Juan S Leon, Parminder S Suchdev
Iron deficiency (ID) and iron deficiency anemia (IDA) are major contributors to infant and maternal morbidity worldwide. There is limited longitudinal data on iron status in young infants and on methods to adjust iron biomarkers for inflammation. We aimed to quantify the prevalence of inflammation-adjusted ID, anemia, and IDA over the first year in a cohort of Bolivian infants and their mothers. Healthy mother-infant dyads were recruited from two peri-urban hospitals. Infants provided three blood draws (2, 6-8, and 12-18 months; N = 160); mothers provided two blood draws (1 and 6-8 months postpartum [plus third anemia measurement at 12-18 months]; N = 250)...
December 7, 2016: Maternal & Child Nutrition
https://www.readbyqxmd.com/read/27928886/f376a-m388a-solulin-a-new-promising-antifibrinolytic-for-severe-haemophilia-a
#9
J Parcq, K U Petersen, A Borel-Derlon, P Gautier, M Ebel, D Vivien, Y Repessé
INTRODUCTION: Haemophilia is a major bleeding disorder due to a deficiency of procoagulant factor VIII (type A) or IX (type B). The treatment is substitutive and based on infusion of factor concentrates. Main limitations of this therapy are cost, short factor half-life and the development of inhibitors (up to 30% of severe HA patients). An important aggravating factor of haemophilia is due to a premature fibrinolysis, directing attention to the therapeutic potential of suitable antifibrinolytics...
December 8, 2016: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/27928777/clinical-and-mutational-characterizations-of-ten-indian-patients-with-beta-ketothiolase-deficiency
#10
Elsayed Abdelkreem, Radha Rama Devi Akella, Usha Dave, Sudhir Sane, Hiroki Otsuka, Hideo Sasai, Yuka Aoyama, Mina Nakama, Hidenori Ohnishi, Shaimaa Mahmoud, Mohamed Abd El Aal, Toshiyuki Fukao
Beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase (T2) deficiency) is an inherited disease of isoleucine catabolism and ketone body utilization caused by ACAT1 mutations. We identified ten Indian patients who manifested with ketoacidotic episodes of variable severity. The patients showed increased urinary excretion of isoleucine-catabolic intermediates: 2-methyl-3-hydroxybutyrate, 2-methylacetoacetate, and tiglylglycine. Six patients had a favorable outcome, one died, and three developed neurodevelopmental sequela...
December 8, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27927575/novel-mutation-in-a-patient-with-late-onset-glut1-deficiency-syndrome
#11
Sandra Juozapaite, Ruta Praninskiene, Birute Burnyte, Laima Ambrozaityte, Birute Skerliene
Glucose transporter 1 deficiency syndrome (GLUT1-DS) is an inborn error of metabolism caused by impaired glucose transport through blood brain barrier due to mutation in SLC2A1 gene, encoding transporter protein. Clinical spectrum includes various signs and symptoms, ranging from severe epileptic encephalopathy to movement disorders. The diagnosis of GLUT1-DS requires hypoglycorrhachia in the presence of normoglycaemia with a reduced cerebrospinal fluid (CSF):plasma glucose ratio. The absence of pathogenic mutation in SLC2A1 gene does not exclude the diagnosis...
December 5, 2016: Brain & Development
https://www.readbyqxmd.com/read/27926939/a-bystander-mechanism-explains-the-specific-phenotype-of-a-broadly-expressed-misfolded-protein
#12
Lauren Klabonski, Ji Zha, Lakshana Senthilkumar, Tali Gidalevitz
Misfolded proteins in transgenic models of conformational diseases interfere with proteostasis machinery and compromise the function of many structurally and functionally unrelated metastable proteins. This collateral damage to cellular proteins has been termed 'bystander' mechanism. How a single misfolded protein overwhelms the proteostasis, and how broadly-expressed mutant proteins cause cell type-selective phenotypes in disease are open questions. We tested the gain-of-function mechanism of a R37C folding mutation in an endogenous IGF-like C...
December 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27926859/rapamycin-reverses-metabolic-deficits-in-lamin-a-c-deficient-mice
#13
Chen-Yu Liao, Sydney S Anderson, Nicole H Chicoine, Jarrott R Mayfield, Emmeline C Academia, Joy A Wilson, Chalermkwan Pongkietisak, Morgan A Thompson, Earl P Lagmay, Delana M Miller, Yueh-Mei Hsu, Mark A McCormick, Monique N O'Leary, Brian K Kennedy
The role of the mTOR inhibitor, rapamycin, in regulation of adiposity remains controversial. Here, we evaluate mTOR signaling in lipid metabolism in adipose tissues of Lmna(-/-) mice, a mouse model for dilated cardiomyopathy and muscular dystrophy. Lifespan extension by rapamycin is associated with increased body weight and fat content, two phenotypes we link to suppression of elevated energy expenditure. In both white and brown adipose tissue of Lmna(-/-) mice, we find that rapamycin inhibits mTORC1 but not mTORC2, leading to suppression of elevated lipolysis and restoration of thermogenic protein UCP1 levels, respectively...
December 6, 2016: Cell Reports
https://www.readbyqxmd.com/read/27926858/g-protein-coupled-receptor-2-interacting-protein-1-controls-stalk-cell-fate-by-inhibiting-delta-like-4-notch1-signaling
#14
Syamantak Majumder, GuoFu Zhu, Xiangbin Xu, Sharon Senchanthisai, Dongyang Jiang, Hao Liu, Chao Xue, Xiaoqun Wang, Heidi Coia, Zhaoqiang Cui, Elaine M Smolock, Richard T Libby, Bradford C Berk, Jinjiang Pang
The spatiotemporal localization and expression of Dll4 are critical for sprouting angiogenesis. However, the related mechanisms are poorly understood. Here, we show that G-protein-coupled receptor-kinase interacting protein-1 (GIT1) is a robust endogenous inhibitor of Dll4-Notch1 signaling that specifically controls stalk cell fate. GIT1 is highly expressed in stalk cells but not in tip cells. GIT1 deficiency remarkably enhances Dll4 expression and Notch1 signaling, resulting in impaired retinal sprouting angiogenesis, which can be rescued by treatment with the Notch inhibitor or Dll4 neutralizing antibody...
December 6, 2016: Cell Reports
https://www.readbyqxmd.com/read/27925712/quantitative-assessment-of-nutrition-in-patients-with-polycystic-ovary-syndrome-pcos
#15
Małgorzata Szczuko, Magdalena Skowronek, Marta Zapałowska-Chwyć, Andrzej Starczewski
Background: PCOS (polycystic ovary syndrome) is called a pathology of the XX century and affects at least 10-15% women of childbearing age. The therapy involves pharmacotherapy of hormonal imbalance, as well as the change of lifestyle, including the diet. Objective: Performing the quantitative assessment of components of diets of women with PCOS, comparing the results with current dietary standards for Polish people and defining dietary requirements for the patients...
2016: Roczniki Państwowego Zakładu Higieny
https://www.readbyqxmd.com/read/27924002/sfpq%C3%A2-nono-and-xlf-function-separately-and-together-to-promote-dna-double-strand-break-repair-via-canonical-nonhomologous-end-joining
#16
Lahcen Jaafar, Zhentian Li, Shuyi Li, William S Dynan
A complex of two related mammalian proteins, SFPQ and NONO, promotes DNA double-strand break repair via the canonical nonhomologous end joining (c-NHEJ) pathway. However, its mechanism of action is not fully understood. Here we describe an improved SFPQ•NONO-dependent in vitro end joining assay. We use this system to demonstrate that the SFPQ•NONO complex substitutes in vitro for the core c-NHEJ factor, XLF. Results are consistent with a model where SFPQ•NONO promotes sequence-independent pairing of DNA substrates, albeit in a way that differs in detail from XLF...
December 6, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27923399/ccaat-enhancer-binding-protein-%C3%AE-is-required-for-satellite-cell-self-renewal
#17
Neena Lala-Tabbert, Hamood AlSudais, François Marchildon, Dechen Fu, Nadine Wiper-Bergeron
BACKGROUND: Postnatal growth and repair of skeletal muscle relies upon a population of quiescent muscle precursor cells, called satellite cells that can be activated to proliferate and differentiate into new myofibers, as well as self-renew to replenish the satellite cell population. The balance between differentiation and self-renewal is critical to maintain muscle tissue homeostasis, and alterations in this equilibrium can lead to chronic muscle degeneration. The transcription factor CCAAT/enhancer binding protein beta (C/EBPβ) is expressed in Pax7(+) satellite cells of healthy muscle and is downregulated during myoblast differentiation...
December 7, 2016: Skeletal Muscle
https://www.readbyqxmd.com/read/27922005/wrn-regulates-pathway-choice-between-classical-and-alternative-non-homologous-end-joining
#18
Raghavendra A Shamanna, Huiming Lu, Jessica K de Freitas, Jane Tian, Deborah L Croteau, Vilhelm A Bohr
Werner syndrome (WS) is an accelerated ageing disorder with genomic instability caused by WRN protein deficiency. Many features seen in WS can be explained by the diverse functions of WRN in DNA metabolism. However, the origin of the large genomic deletions and telomere fusions are not yet understood. Here, we report that WRN regulates the pathway choice between classical (c)- and alternative (alt)-nonhomologous end joining (NHEJ) during DNA double-strand break (DSB) repair. It promotes c-NHEJ via helicase and exonuclease activities and inhibits alt-NHEJ using non-enzymatic functions...
December 6, 2016: Nature Communications
https://www.readbyqxmd.com/read/27921261/attempting-to-compensate-for-reduced-neuronal-nitric-oxide-synthase-protein-with-nitrate-supplementation-cannot-overcome-metabolic-dysfunction-but-rather-has-detrimental-effects-in-dystrophin-deficient-mdx-muscle
#19
Cara A Timpani, Adam J Trewin, Vanesa Stojanovska, Ainsley Robinson, Craig A Goodman, Kulmira Nurgali, Andrew C Betik, Nigel Stepto, Alan Hayes, Glenn K McConell, Emma Rybalka
Duchenne muscular dystrophy arises from the loss of dystrophin and is characterized by calcium dysregulation, muscular atrophy, and metabolic dysfunction. The secondary reduction of neuronal nitric oxide synthase (nNOS) from the sarcolemma reduces NO production and bioavailability. As NO modulates glucose uptake, metabolism, and mitochondrial bioenergetics, we investigated whether an 8-week nitrate supplementation regimen could overcome metabolic dysfunction in the mdx mouse. Dystrophin-positive control (C57BL/10) and dystrophin-deficient mdx mice were supplemented with sodium nitrate (85 mg/l) in drinking water...
December 5, 2016: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/27921079/data-file-of-a-deep-proteome-analysis-of-the-prefrontal-cortex-in-aged-mice-with-progranulin-deficiency-or-neuronal-overexpression-of-progranulin
#20
Juliana Heidler, Stefanie Hardt, Ilka Wittig, Irmgard Tegeder
Progranulin deficiency is associated with neurodegeneration in humans and in mice. The mechanisms likely involve progranulin-promoted removal of protein waste via autophagy. We performed a deep proteomic screen of the pre-frontal cortex in aged (13-15 months) female progranulin-deficient mice (GRN(-/-)) and mice with inducible neuron-specific overexpression of progranulin (SLICK-GRN-OE) versus the respective control mice. Proteins were extracted and analyzed per liquid chromatography/mass spectrometry (LC/MS) on a Thermo Scientific™ Q Exactive Plus equipped with an ultra-high performance liquid chromatography unit and a Nanospray Flex Ion-Source...
December 2016: Data in Brief
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