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protein S deficiency

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https://www.readbyqxmd.com/read/28100687/a-stripak-complex-mediates-axonal-transport-of-autophagosomes-and-dense-core-vesicles-through-pp2a-regulation
#1
Amanda L Neisch, Thomas P Neufeld, Thomas S Hays
Autophagy plays an essential role in the cellular homeostasis of neurons, facilitating the clearance of cellular debris. This clearance process is orchestrated through the assembly, transport, and fusion of autophagosomes with lysosomes for degradation. The motor protein dynein drives autophagosome motility from distal sites of assembly to sites of lysosomal fusion. In this study, we identify the scaffold protein CKA (connector of kinase to AP-1) as essential for autophagosome transport in neurons. Together with other core components of the striatin-interacting phosphatase and kinase (STRIPAK) complex, we show that CKA associates with dynein and directly binds Atg8a, an autophagosomal protein...
January 18, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28099941/the-roles-of-rrp15-in-nucleolar-formation-ribosome-biogenesis-and-checkpoint-control-in-human-cells
#2
Zhixiong Dong, Changjun Zhu, Qimin Zhan, Wei Jiang
The nucleolus controls ribosome biogenesis and its perturbation induces nucleolar stress that inhibits cell cycle progression and activates checkpoint responses. Here, we investigate the roles of ribosomal RNA processing protein, RRP15, in nucleolar formation, ribosome biogenesis, cell cycle progression and checkpoint control in human cells. RRP15 is localized in the nucleolus and required for nucleolar formation. In contrast to the budding yeast Rrp15p that was reported as a component of pre-60S subunits, RRP15 is found in both pre-40S and pre-60S subunits and involved in regulating rRNA transcription and ribosome biogenesis...
January 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28099519/crispr-cas9-mediated-nox4-knockout-inhibits-cell-proliferation-and-invasion-in-hela-cells
#3
Naser Jafari, Hyunju Kim, Rackhyun Park, Liqing Li, Minsu Jang, Andrew J Morris, Junsoo Park, Cai Huang
Increased expression of NOX4 protein is associated with cancer progression and metastasis but the role of NOX4 in cell proliferation and invasion is not fully understood. We generated NOX4 knockout HeLa cell lines using the CRISPR-Cas9 gene editing system to explore the cellular functions of NOX4. After transfection of CRISPR-Cas9 construct, we performed T7 endonuclease 1 assays and DNA sequencing to generate and identify insertion and deletion of the NOX4 locus. We confirmed the knockout of NOX4 by Western blotting...
2017: PloS One
https://www.readbyqxmd.com/read/28099509/a-comparative-study-on-antioxidant-system-in-fish-hepatopancreas-and-intestine-affected-by-choline-deficiency-different-change-patterns-of-varied-antioxidant-enzyme-genes-and-nrf2-signaling-factors
#4
Pei Wu, Yang Liu, Wei-Dan Jiang, Jun Jiang, Juan Zhao, Yong-An Zhang, Xiao-Qiu Zhou, Lin Feng
The liver and intestine are susceptible to the oxidative damage which could result in several diseases. Choline deficiency induced oxidative damage in rat liver cells. Thus, this study aimed to investigate the potential molecular mechanisms responsible for choline deficiency-induced oxidative damage. Juvenile Jian carp were fed diets differing in choline content [165 (deficient group), 310, 607, 896, 1167 and 1820 mg/kg diet] respectively for 65 days. Oxidative damage, antioxidant enzyme activities and related gene expressions in the hepatopancreas and intestine were measured...
2017: PloS One
https://www.readbyqxmd.com/read/28098945/frequency-of-cnksr2-mutation-in-the-x-linked-epilepsy-aphasia-spectrum
#5
John A Damiano, Rosemary Burgess, Sara Kivity, Tally Lerman-Sagie, Zaid Afawi, Ingrid E Scheffer, Samuel F Berkovic, Michael S Hildebrand
Synaptic proteins are critical to neuronal function in the brain, and their deficiency can lead to seizures and cognitive impairments. CNKSR2 (connector enhancer of KSR2) is a synaptic protein involved in Ras signaling-mediated neuronal proliferation, migration and differentiation. Mutations in the X-linked gene CNKSR2 have been described in patients with seizures and neurodevelopmental deficits, especially those affecting language. In this study, we sequenced 112 patients with phenotypes within the epilepsy-aphasia spectrum (EAS) to determine the frequency of CNKSR2 mutation within this complex set of disorders...
January 18, 2017: Epilepsia
https://www.readbyqxmd.com/read/28096611/recent-advances-in-role-of-chromium-and-its-antioxidant-combinations-in-poultry-nutrition-a-review
#6
REVIEW
Z Haq, R K Jain, N Khan, M Y Dar, S Ali, M Gupta, T K Varun
Poultry is reared in open side houses in most of the tropical countries, which results in huge temperature variation in shed causing stress resulting in increased demand of antioxidant supplementation. Since cooling of poultry houses or environment control is very expensive, thus methods focused on nutritional modifications appears to be the much logical approach. Stress increases mineral and vitamin mobilization from tissues and their excretion. Effect of some minerals and vitamin supplements such as chromium (Cr) and ascorbic acid to elevate the negative effects of environmental stress is well documented...
December 2016: Veterinary World
https://www.readbyqxmd.com/read/28095989/prolonged-k-deficiency-increases-intracellular-atp-cell-cycle-arrest-and-cell-death-in-renal-tubular-cells
#7
Kedsarin Fong-Ngern, Nardtaya Ausakunpipat, Nilubon Singhto, Kanyarat Sueksakit, Visith Thongboonkerd
BACKGROUND: Chronic potassium (K(+)) deficiency can cause renal damage namely hypokalemic nephropathy with unclear pathogenic mechanisms. In the present study, we investigated expression and functional alterations in renal tubular cells induced by prolonged K(+) deficiency. METHODS: MDCK cells were maintained in normal-K(+) (CNK) (K(+)=5.3mmol/L), low-K(+) (CLK) (K(+)=2.5mmol/L), or K(+)-depleted (CKD) (K(+)=0mmol/L) medium for 10days (n=5 independent cultures/condition)...
January 4, 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/28095465/leishmania-hasp-and-sherp-genes-are-required-for-in-vivo-differentiation-parasite-transmission-and-virulence-attenuation-in-the-host
#8
Johannes S P Doehl, Jovana Sádlová, Hamide Aslan, Kateřina Pružinová, Sonia Metangmo, Jan Votýpka, Shaden Kamhawi, Petr Volf, Deborah F Smith
Differentiation of extracellular Leishmania promastigotes within their sand fly vector, termed metacyclogenesis, is considered to be essential for parasites to regain mammalian host infectivity. Metacyclogenesis is accompanied by changes in the local parasite environment, including secretion of complex glycoconjugates within the promastigote secretory gel and colonization and degradation of the sand fly stomodeal valve. Deletion of the stage-regulated HASP and SHERP genes on chromosome 23 of Leishmania major is known to stall metacyclogenesis in the sand fly but not in in vitro culture...
January 17, 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28092369/context-dependent-role-for-chromatin-remodeling-component-pbrm1-baf180-in-clear-cell-renal-cell-carcinoma
#9
A Murakami, L Wang, S Kalhorn, P Schraml, W K Rathmell, A C Tan, R Nemenoff, K Stenmark, B-H Jiang, M E Reyland, L Heasley, C-J Hu
A subset of clear cell renal cell carcinoma (ccRCC) tumors exhibit a HIF1A gene mutation, yielding two ccRCC tumor types, H1H2 type expressing both HIF1α and HIF2α, and H2 type expressing HIF2α, but not functional HIF1α protein. However, it is unclear how the H1H2 type ccRCC tumors escape HIF1's tumor-suppressive activity. The polybromo-1 (PBRM1) gene coding for the BAF180 protein, a component of the SWItch/Sucrose Non-Fermentable (SWI/SNF) chromatin remodeling complex, is inactivated in 40% ccRCCs, the function and mechanism of BAF180 mutation is unknown...
January 16, 2017: Oncogenesis
https://www.readbyqxmd.com/read/28092096/associations-between-pre-eclampsia-and-protein-c-and-protein%C3%A2-s-levels-among-pregnant-nigerian-women
#10
Helen C Okoye, Lisa I Eweputanna, Anthony O U Okpani, Oseikhuemen A Ejele
OBJECTIVE: To evaluate levels of protein C and free protein S among women with pre-eclampsia, and determine whether there is a relationship between deficiencies and pre-eclampsia. METHODS: A cross-sectional study was conducted at a hospital in Nigeria from July 2013 to March 2014 among 90 pregnant women with pre-eclampsia (blood pressure ≥140/90 mm Hg, proteinuria ≥300 mg in 24 hours) and 90 normotensive pregnant women (control group). Plasma levels of protein C and free protein S were analyzed by enzyme-linked immunosorbent assay, and protein C activity by a chromogenic method...
December 16, 2016: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/28088625/absence-of-dj-1-causes-age-related-retinal-abnormalities-in-association-with-increased-oxidative-stress
#11
Vera L Bonilha, Brent A Bell, Mary E Rayborn, Ivy S Samuels, Anna King, Joe G Hollyfield, Chengsong Xie, Huaibin Cai
Oxidative stress alters physiological function in most biological tissues and can lead to cell death. In the retina, oxidative stress initiates a cascade of events leading to focal loss of RPE and photoreceptors, which is thought to be a major contributing factor to geographic atrophy. Despite these implications, the molecular regulation of RPE oxidative stress under normal and pathological conditions remains largely unknown. A better understanding of the mechanisms involved in regulating RPE and photoreceptors oxidative stress response is greatly needed...
January 11, 2017: Free Radical Biology & Medicine
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
#12
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/28088466/teneurin-2-tenm2-deficiency-induces-ucp1-expression-in-differentiating-human-fat-cells
#13
D Tews, T Fromme, M Keuper, S M Hofmann, K M Debatin, M Klingenspor, M Wabitsch, P Fischer-Posovszky
Under certain conditions UCP1 expressing adipocytes arise in white adipose tissue depots of both mice and humans. It is still not fully understood whether these cells differentiate de novo from specific progenitor cells or if they transdifferentiate from mature white adipocytes. Performing expression pattern analysis comparing adipocyte progenitor cells from deep and subcutaneous neck adipose tissue, we recently identified teneurin-2 (TENM2) enriched in white adipocyte progenitor cells. Here we tested whether TENM2 deficiency in adipocyte progenitor cells would lead to a brown adipocyte phenotype...
January 11, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28088007/impairment-of-host-liver-repopulation-by-transplanted-hepatocytes-in-aged-rats-and-the-release-by-short-term-growth-hormone-treatment
#14
Peggy Stock, Maximilian Bielohuby, Martin S Staege, Mei-Ju Hsu, Martin Bidlingmaier, Bruno Christ
Hepatocyte transplantation is an alternative to whole liver transplantation. Yet, efficient liver repopulation by transplanted hepatocytes is low in livers of old animals. This restraint might be because of the poor proliferative capacity of aged donor hepatocytes or the regenerative impairment of the recipient livers. The age-dependent liver repopulation by transplanted wild-type hepatocytes was investigated in juvenile and senescent rats deficient in dipeptidyl-peptidase IV. Repopulation was quantified by flow cytometry and histochemical estimation of dipeptidyl-peptidase IV enzyme activity of donor cells in the negative host liver...
January 11, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28087716/the-piggybac-transposon-derived-genes-tpb1-and-tpb6-mediate-essential-transposon-like-excision-during-the-developmental-rearrangement-of-key-genes-in-tetrahymena-thermophila
#15
Chao-Yin Cheng, Janet M Young, Chih-Yi Gabriela Lin, Ju-Lan Chao, Harmit S Malik, Meng-Chao Yao
Ciliated protozoans perform extreme forms of programmed somatic DNA rearrangement during development. The model ciliate Tetrahymena thermophila removes 34% of its germline micronuclear genome from somatic macronuclei by excising thousands of internal eliminated sequences (IESs), a process that shares features with transposon excision. Indeed, piggyBac transposon-derived genes are necessary for genome-wide IES excision in both Tetrahymena (TPB2 [Tetrahymena piggyBac-like 2] and LIA5) and Paramecium tetraurelia (PiggyMac)...
December 15, 2016: Genes & Development
https://www.readbyqxmd.com/read/28087320/poly-adp-ribose-polymerase-activity-and-inhibition-in-cancer
#16
REVIEW
Caleb Dulaney, Samuel Marcrom, Jennifer Stanley, Eddy S Yang
Genomic instability resultant from defective DNA repair mechanisms is a fundamental hallmark of cancer. The poly(ADP-ribose) polymerase (PARP) proteins 1, 2 and 3 catalyze the polymerization of poly(ADP-ribose) and covalent attachment to proteins in a phylogenetically ancient form of protein modification. PARPs play a role in base excision repair, homologous recombination, and non-homologous end joining. The discovery that loss of PARP activity had cytotoxic effects in cells deficient in homologous recombination has sparked a decade of translational research efforts that culminated in the FDA approval of an oral PARP inhibitor for clinical use in patients with ovarian cancer and defective homologous recombination...
January 10, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28086774/androgenic-effects-of-aqueous-and-methanolic-extracts-of-ficus-asperifolia-in-male-wistar-rats
#17
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
#18
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/28079521/isoform-specific-subcellular-localization-and-function-of-protein-kinase-a-identified-by-mosaic-imaging-of-mouse-brain
#19
Ronit Ilouz, Varda Lev-Ram, Eric A Bushong, Travis L Stiles, Dinorah Friedmann-Morvinski, Christopher Douglas, Geoffrey Goldberg, Mark H Ellisman, Susan S Taylor
Protein kinase A (PKA) plays critical roles in neuronal function that are mediated by different regulatory (R) subunits. Deficiency in either RIβ or RIIβ subunits results in distinct neuronal phenotypes. Although RIβ contributes to synaptic plasticity, it is the least studied isoform. Using isoform-specific antibodies we generated high-resolution large-scale immunohistochemical mosaic images of mouse brain that provide global views of several brain regions, including the hippocampus and cerebellum. The isoforms concentrate in discrete brain regions and we then zoom-in to show distinct patterns of subcellular localization...
January 12, 2017: ELife
https://www.readbyqxmd.com/read/28077870/the-role-of-interfacial-lipids-in-stabilizing-membrane-protein-oligomers
#20
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 19, 2017: Nature
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