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protein C deficiency

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https://www.readbyqxmd.com/read/28088608/gene-analysis-of-six-cases-of-congenital-protein-s-deficiency-and-functional-analysis-of-protein-s-mutations-a139v-c449f-r451q-c475f-a525v-and-d599tfster13
#1
Fumina Taniguchi, Eriko Morishita, Akiko Sekiya, Haruka Nomoto, Shiori Katsu, Shounosuke Kaneko, Hidesaku Asakura, Shigeki Ohtake
Congenital deficiency of protein S (PS), an anticoagulant factor, leads to venous thrombosis, with onset predominantly beginning in adolescence. In the present study, gene analysis of six unrelated Japanese families diagnosed with congenital PS deficiency identified five missense mutations in the PROS1 gene - c.757C>T (Ala139Val; A139V), c.1346 G>T (Cys449Phe; C449F), c.1352G>A (Arg451Gln; R451Q), c.1424G>T (Cys475Phe; C475F) and c.1574C>T (Ala525Val; A525V) - and one frameshift mutation, c.2135delA (Asp599ThrfsTer13; D599TfsTer13)...
December 24, 2016: Thrombosis Research
https://www.readbyqxmd.com/read/28088180/nuclear-envelope-structural-proteins-facilitate-nuclear-shape-changes-accompanying-embryonic-differentiation-and-fidelity-of-gene-expression
#2
Elizabeth R Smith, Yue Meng, Robert Moore, Jeffrey D Tse, Arn G Xu, Xiang-Xi Xu
BACKGROUND: Nuclear size and shape are specific to a cell type, function, and location, and can serve as indicators of disease and development. We previously found that lamin A/C and associated nuclear envelope structural proteins were upregulated when murine embryonic stem (ES) cells differentiated to primitive endoderm cells. Here we further investigated the morphological changes of nuclei that accompany this differentiation. RESULTS: The nuclei of undifferentiated wild type cells were found shaped as flattened, irregular ovals, whereas nuclei of Gata4-positive endoderm cells were more spherical, less flattened, and with a slightly reduced volume...
January 14, 2017: BMC Cell Biology
https://www.readbyqxmd.com/read/28087438/dopa-responsive-dystonia-in-chinese-patients-including-a-novel-heterozygous-mutation-in-the-gch1-gene-with-an-intermediate-phenotype-and-one-case-of-prenatal-diagnosis
#3
Wen Zhang, Zhizi Zhou, Xiuzhen Li, Yonglan Huang, Taolin Li, Yunting Lin, Yongxian Shao, Hao Hu, Hongsheng Liu, Li Liu
Dopa-responsive dystonia (DRD) is a rare inherited disorder characterized by childhood-onset dystonia with diurnal fluctuation and dramatic response to levodopa. DRD is caused by the mutations in the genes encoding the enzymes involved in the dopamine and tetrahydrobiopterin (BH4) biosynthesis, including the GTP cyclohydrolase 1 (GCH1) gene and the tyrosine hydroxylase (TH) gene. In order to improve the diagnosis and expand the knowledge of the disease, we collected and analyzed relevant data of clinical diagnosis and molecular mutational analysis in five Chinese patients with DRD...
January 10, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28086774/androgenic-effects-of-aqueous-and-methanolic-extracts-of-ficus-asperifolia-in-male-wistar-rats
#4
Pierre Watcho, Hermine Meli Watio, Modeste Wankeu-Nya, Esther Ngadjui, Patrick Deeh Defo, Pepin Alango Nkeng-Efouet, Telesphore Benoit Nguelefack, Albert Kamanyi
BACKGROUND: Androgen deficiency is a clinical syndrome resulting from the inability of the testes to produce physiological levels of testosterone due to a disturbance occurring at one or more levels of the hypothalamic-pituitary-testicular axis. The present study was undertaken to evaluate the androgenic properties of aqueous and methanolic extracts of Ficus asperifolia on normal and castrated immature rats. METHODS: Normal rats were treated either per os with aqueous or methanolic extract of Ficus asperifolia (100 mg/kg or 500 mg/kg b...
January 13, 2017: BMC Complementary and Alternative Medicine
https://www.readbyqxmd.com/read/28079536/non-vitamin-k-antagonist-oral-anticoagulants-in-patients-with-severe-inherited-thrombophilia-a-series-of-33-patients
#5
Anetta Undas, Tadeusz Goralczyk
The aim of the study was to investigate whether treatment with non-vitamin K antagonist oral anticoagulants (NOACs) is effective and well tolerated in real-life patients following venous thromboembolism (VTE) associated with severe inherited thrombophilia. We evaluated 33 consecutive patients with severe inherited thrombophilia, defined as the presence of deficiencies in protein C, protein S, or anti-thrombin, homozygous factor V Leiden and prothrombin G20210A mutations, or combined defects. The patients were recruited from March 2010 to December 2015 and followed till July 2016...
January 12, 2017: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/28079228/attenuated-recovery-of-contractile-function-in-aging-hearts-following-global-ischemia-reperfusion-role-of-extracellular-hsp27-and-tlr4
#6
Lihua Ao, Yufeng Zhai, Chunhua Jin, Joseph C Cleveland, David A Fullerton, Xianzhong Meng
BACKGROUND: While cardiac functional recovery is attenuated in the elderly following cardiac surgery with obligatory global myocardial ischemia/reperfusion (I/R), the underlying mechanism remains incompletely understood. We observed previously that human and mouse myocardium releases heat shock protein (HSP) 27 during global I/R. Extracellular HSP27 induces myocardial inflammatory response and plays a role in post-ischemic cardiac dysfunction in adult mouse hearts. OBJECTIVE: This study was to determine the role of extracellular HSP27 and Toll-like receptor 4 (TLR4) in the attenuated functional recovery in aging mouse hearts following global I/R...
December 19, 2016: Molecular Medicine
https://www.readbyqxmd.com/read/28079053/molecular-evidence-for-the-involvement-of-a-polygalacturonase-inhibiting-protein-ghpgip1-in-enhanced-resistance-to-verticillium-and-fusarium-wilts-in-cotton
#7
Nana Liu, Xueyan Zhang, Yun Sun, Ping Wang, Xiancai Li, Yakun Pei, Fuguang Li, Yuxia Hou
Polygalacturonase-inhibiting protein (PGIP), belonging to a group of plant defence proteins, specifically inhibits endopolygalacturonases secreted by pathogens. Herein, we showed that purified GhPGIP1 is a functional inhibitor of Verticillium dahliae and Fusarium oxysporum f. sp. vasinfectum, the two fungal pathogens causing cotton wilt. Transcription of GhPGIP1 was increased in cotton upon infection, wounding, and treatment with defence hormone and H2O2. Resistance by GhPGIP1 was examined by its virus-induced gene silencing in cotton and overexpression in Arabidopsis...
January 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28078877/congenital-muscular-dystrophy-and-epilepsy-a-prospective-case-series-of-pediatric-patients
#8
G Vitaliti, P Pavone, C Romano, M Barbagallo, M Vecchio, C Ledda, R Lubrano, R Falsaperla
Congenital Muscular Dystrophies (CMDs) can be considered as a heterogeneous group of diseases characterized by marked weakness, generalized hypotonia and joint contractures. They are divided into pure and classical forms, without ocular and cerebral involvement, and complex forms, which are associated with cerebral abnormalities. Seizures have rarely been described in the pure forms while they seem to occur more frequently in complex forms. The aim of our study was to evaluate the incidence of seizure in CMD...
October 2016: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/28078576/feeding-problems-and-nutrient-intake-in-children-with-and-without-autism-a-comparative-study
#9
Prahbhjot Malhi, Lolam Venkatesh, Bhavneet Bharti, Pratibha Singhi
OBJECTIVE: To compare parent reported feeding difficulties and nutritional adequacy of children with Autism Spectrum Disorders (ASD) to an age and socio-economically matched group of typically developing children. METHODS: The scores on Children's Eating Behavior Inventory (CEBI), three-day food records, anthropometric measures and adequacy of micro- and macro- nutrients were compared for 63 children diagnosed with ASD and 50 typically developing children enrolled from the department of pediatrics of a tertiary care teaching hospital from North India...
January 12, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28078310/polg2-deficiency-causes-adult-onset-syndromic-sensory-neuropathy-ataxia-and-parkinsonism
#10
Lionel Van Maldergem, Arnaud Besse, Boel De Paepe, Emma L Blakely, Vivek Appadurai, Margaret M Humble, Juliette Piard, Kate Craig, Langping He, Pierre Hella, François-Guillaume Debray, Jean-Jacques Martin, Marion Gaussen, Patrice Laloux, Giovanni Stevanin, Rudy Van Coster, Robert W Taylor, William C Copeland, Eric Mormont, Penelope E Bonnen
OBJECTIVE: Mitochondrial dysfunction plays a key role in the pathophysiology of neurodegenerative disorders such as ataxia and Parkinson's disease. We describe an extended Belgian pedigree where seven individuals presented with adult-onset cerebellar ataxia, axonal peripheral ataxic neuropathy, and tremor, in variable combination with parkinsonism, seizures, cognitive decline, and ophthalmoplegia. We sought to identify the underlying molecular etiology and characterize the mitochondrial pathophysiology of this neurological syndrome...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28077870/the-role-of-interfacial-lipids-in-stabilizing-membrane-protein-oligomers
#11
Kallol Gupta, Joseph A C Donlan, Jonathan T S Hopper, Povilas Uzdavinys, Michael Landreh, Weston B Struwe, David Drew, Andrew J Baldwin, Phillip J Stansfeld, Carol V Robinson
Oligomerization of membrane proteins in response to lipid binding has a critical role in many cell-signalling pathways but is often difficult to define or predict. Here we report the development of a mass spectrometry platform to determine simultaneously the presence of interfacial lipids and oligomeric stability and to uncover how lipids act as key regulators of membrane-protein association. Evaluation of oligomeric strength for a dataset of 125 α-helical oligomeric membrane proteins reveals an absence of interfacial lipids in the mass spectra of 12 membrane proteins with high oligomeric stability...
January 11, 2017: Nature
https://www.readbyqxmd.com/read/28077791/carcinoma-risk-variant-of-ebna1-deregulates-epstein-barr-virus-episomal-latency
#12
Jayaraju Dheekollu, Kimberly Malecka, Andreas Wiedmer, Henri-Jacques Delecluse, Alan Ks Chiang, Dario C Altieri, Troy E Messick, Paul M Lieberman
Epstein-Barr Virus (EBV) latent infection is a causative co-factor for endemic Nasopharyngeal Carcinoma (NPC). NPC-associated variants have been identified in EBV-encoded nuclear antigen EBNA1. Here, we solve the X-ray crystal structure of an NPC-derived EBNA1 DNA binding domain (DBD) and show that variant amino acids are found on the surface away from the DNA binding interface. We show that NPC-derived EBNA1 is compromised for DNA replication and episome maintenance functions. Recombinant virus containing the NPC EBNA1 DBD are impaired in their ability to immortalize primary B-lymphocytes and suppress lytic transcription during early stages of B-cell infection...
January 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/28077463/novel-method-for-detection-of-glycogen-in-cells
#13
Alexander V Skurat, Dyann Segvich, Anna A DePaoli-Roach, Peter J Roach
Glycogen, a branched polymer of glucose, functions as an energy reserve in many living organisms. Abnormalities in glycogen metabolism, usually excessive accumulation, can be caused genetically, most often through mutation of the enzymes directly involved in synthesis and degradation of the polymer leading to a variety of glycogen storage diseases (GSDs). Microscopic visualization of glycogen deposits in cells and tissues is important for the study of normal glycogen metabolism as well as diagnosis of GSDs...
January 10, 2017: Glycobiology
https://www.readbyqxmd.com/read/28077194/the-response-of-weaned-piglets-to-dietary-valine-and-leucine
#14
F Meyer, C Jansen van Rensburg, R M Gous
Valine (Val) is considered to be the fifth-limiting amino acid in a maize-soyabean meal diet for pigs. Excess leucine (Leu) levels often occur in commercial diets, which may attenuate the effect of Val deficiency because of an increased oxidation of Val. The objective of the present experiment was to determine the effect of increasing concentrations of Leu on the response of young piglets to dietary Val. In all, 75 Large White×Landrace entire male pigs, 44 days of age and with a mean starting weight of 13...
January 12, 2017: Animal: An International Journal of Animal Bioscience
https://www.readbyqxmd.com/read/28076660/influenza-a-virus-ns1-protein-induced-jnk-activation-and-apoptosis-are-not-functionally-linked
#15
Wolfgang Nacken, Viktor Wixler, Christina Ehrhardt, Stephan Ludwig
Expression of the influenza A virus (IAV) non-structural protein NS1 results in the activation of c-Jun N-terminal kinase (JNK). Both NS1 and JNK are involved in apoptosis induction. To investigate their interrelationship, we stably expressed a tamoxifen inducible NS1 oestrogen receptor fusion-protein (NS1ERT) in mammalian cells. Upon tamoxifen stimulation, NS1ERT expressing cells partially rescued the attenuated replication of NS1-deficient IAVs and also inhibited interferon up-regulation, confirming the functional competence of NS1ERT...
January 11, 2017: Cellular Microbiology
https://www.readbyqxmd.com/read/28075530/dysregulation-of-pldn-pallidin-is-a-mechanism-for-platelet-dense-granule-deficiency-in-runx1-haplodeficiency
#16
G F Mao, L E Goldfinger, D C Fan, M P Lambert, G Jalagadugula, R Freishtat, A K Rao
BACKGROUND: Inherited RUNX1 haplodeficiency is associated with thrombocytopenia and platelet dysfunction. Dense granule (DG) deficiency is reported in patients with RUNX1 haplodeficiency, but the molecular mechanisms are unknown. Platelet mRNA expression profiling in a patient previously reported by us with a RUNX1 mutation and platelet dysfunction showed decreased expression of PLDN (BLOC1S6), which encodes for pallidin, a subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) involved in granule biogenesis...
January 11, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28074329/dietary-adequacy-of-egyptian-children-with-autism-spectrum-disorder-compared-to-healthy-developing-children
#17
Nagwa A Meguid, Mona Anwar, Geir Bjørklund, Adel Hashish, Salvatore Chirumbolo, Maha Hemimi, Eman Sultan
Although the etiology and pathology of autism spectrum disorder (ASD) is still poorly understood, a number of environmental, anthropological, neurobiological and genetic factors have been related to the pathophysiology of ASD, even the impact of oxidative stress response related to the environment and nutrition intake. Usual recommended dietary habits are based on the combination of behavioral and dietary or nutraceutical interventions together with pharmacotherapy. Investigations about a reliable relationship between diet and ASD are still lacking...
January 10, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28073160/activation-of-jnk-pathway-aggravates-proteotoxicity-of-hepatic-mutant-z-alpha1-antitrypsin
#18
Nunzia Pastore, Sergio Attanasio, Barbara Granese, Jeffrey Teckman, Andrew A Wilson, Andrea Ballabio, And Nicola Brunetti-Pierri
Alpha1-antitrypsin deficiency is a genetic disease that can affect both the lung and the liver. The vast majority of patients harbor a mutation in the SERPINA1 gene resulting in a single amino acid substitution that results in an unfolded protein that is prone to polymerization. Therefore, the liver disease is caused by a gain of function mechanism due to accumulation of the mutant Z alpha1-antitrypsin (ATZ) and is a key example of an important disease mechanism induced by protein toxicity. Intracellular retention of ATZ triggers a complex injury cascade including apoptosis and other mechanisms, although several aspects of the disease pathogenesis are still unclear...
January 10, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28069948/genomic-targeting-of-epigenetic-probes-using-a-chemically-tailored-cas9-system
#19
Glen P Liszczak, Zachary Z Brown, Samuel H Kim, Rob C Oslund, Yael David, Tom W Muir
Recent advances in the field of programmable DNA-binding proteins have led to the development of facile methods for genomic localization of genetically encodable entities. Despite the extensive utility of these tools, locus-specific delivery of synthetic molecules remains limited by a lack of adequate technologies. Here we combine the flexibility of chemical synthesis with the specificity of a programmable DNA-binding protein by using protein trans-splicing to ligate synthetic elements to a nuclease-deficient Cas9 (dCas9) in vitro and subsequently deliver the dCas9 cargo to live cells...
January 9, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28069938/crystal-structure-and-mechanistic-basis-of-a-functional-homolog-of-the-antigen-transporter-tap
#20
Anne Nöll, Christoph Thomas, Valentina Herbring, Tina Zollmann, Katja Barth, Ahmad Reza Mehdipour, Thomas M Tomasiak, Stefan Brüchert, Benesh Joseph, Rupert Abele, Vincent Oliéric, Meitian Wang, Kay Diederichs, Gerhard Hummer, Robert M Stroud, Klaas M Pos, Robert Tampé
ABC transporters form one of the largest protein superfamilies in all domains of life, catalyzing the movement of diverse substrates across membranes. In this key position, ABC transporters can mediate multidrug resistance in cancer therapy and their dysfunction is linked to various diseases. Here, we describe the 2.7-Å X-ray structure of heterodimeric Thermus thermophilus multidrug resistance proteins A and B (TmrAB), which not only shares structural homology with the antigen translocation complex TAP, but is also able to restore antigen processing in human TAP-deficient cells...
January 9, 2017: Proceedings of the National Academy of Sciences of the United States of America
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