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protein S deficiency

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https://www.readbyqxmd.com/read/28222153/dissecting-nutrient-related-co-expression-networks-in-phosphate-starved-poplars
#1
Mareike Kavka, Andrea Polle
Phosphorus (P) is an essential plant nutrient, but its availability is often limited in soil. Here, we studied changes in the transcriptome and in nutrient element concentrations in leaves and roots of poplars (Populus × canescens) in response to P deficiency. P starvation resulted in decreased concentrations of S and major cations (K, Mg, Ca), in increased concentrations of N, Zn and Al, while C, Fe and Mn were only little affected. In roots and leaves >4,000 and >9,000 genes were differently expressed upon P starvation...
2017: PloS One
https://www.readbyqxmd.com/read/28221363/premature-primary-tooth-eruption-in-cognitive-motor-delayed-adnp-mutated-children
#2
I Gozes, A Van Dijck, G Hacohen-Kleiman, I Grigg, G Karmon, E Giladi, M Eger, Y Gabet, M Pasmanik-Chor, E Cappuyns, O Elpeleg, R F Kooy, S Bedrosian-Sermone
A major flaw in autism spectrum disorder (ASD) management is late diagnosis. Activity-dependent neuroprotective protein (ADNP) is a most frequent de novo mutated ASD-related gene. Functionally, ADNP protects nerve cells against electrical blockade. In mice, complete Adnp deficiency results in dysregulation of over 400 genes and failure to form a brain. Adnp haploinsufficiency results in cognitive and social deficiencies coupled to sex- and age-dependent deficits in the key microtubule and ion channel pathways...
February 21, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28219837/chronic-maternal-calcium-and-25-hydroxyvitamin-d-deficiency-in-wistar-rats-programs-abnormal-hepatic-gene-expression-leading-to-hepatic-steatosis-in-female-offspring
#3
Sona S Sharma, Nivedita M Jangale, Abhay M Harsulkar, Medha K Gokhale, Bimba N Joshi
Importance of calcium and vitamin D deficiency is well established in adult dyslipidemia. We hypothesized that maternal calcium and vitamin D deficiency could alter offspring's lipid metabolism. Our objective was to investigate the effect of maternal dietary calcium and vitamin D deficiency on lipid metabolism and liver function of the F1 generation offspring. intergenerational calcium-deficient (CaD) and vitamin D-deficient (VDD) models were developed by mating normal male rats with deficient females and continuing maternal-deficient diets through pregnancy and lactation...
February 8, 2017: Journal of Nutritional Biochemistry
https://www.readbyqxmd.com/read/28219080/survival-of-tissue-resident-memory-t-cells-requires-exogenous-lipid-uptake-and-metabolism
#4
Youdong Pan, Tian Tian, Chang Ook Park, Serena Y Lofftus, Shenglin Mei, Xing Liu, Chi Luo, John T O'Malley, Ahmed Gehad, Jessica E Teague, Sherrie J Divito, Robert Fuhlbrigge, Pere Puigserver, James G Krueger, Gökhan S Hotamisligil, Rachael A Clark, Thomas S Kupper
Tissue-resident memory T (TRM) cells persist indefinitely in epithelial barrier tissues and protect the host against pathogens. However, the biological pathways that enable the long-term survival of TRM cells are obscure. Here we show that mouse CD8(+) TRM cells generated by viral infection of the skin differentially express high levels of several molecules that mediate lipid uptake and intracellular transport, including fatty-acid-binding proteins 4 and 5 (FABP4 and FABP5). We further show that T-cell-specific deficiency of Fabp4 and Fabp5 (Fabp4/Fabp5) impairs exogenous free fatty acid (FFA) uptake by CD8(+) TRM cells and greatly reduces their long-term survival in vivo, while having no effect on the survival of central memory T (TCM) cells in lymph nodes...
February 20, 2017: Nature
https://www.readbyqxmd.com/read/28217586/occult-endocrine-dysfunction-in-patients-with-cirrhosis-of-liver
#5
K V S Hari Kumar, A K Pawah, Manish Manrai
BACKGROUND: Liver dysfunction leads to endocrine disturbance due to the alteration in protein metabolism or synthesis. We studied the presence of occult endocrine dysfunction in liver cirrhosis and compared the same with underlying etiology. MATERIALS AND METHODS: We evaluated thirty patients with liver cirrhosis in this cross-sectional, observational study. All subjects were assessed for pituitary, thyroid, adrenal, and gonadal function. The patients were divided into Group 1 (cirrhosis, n = 30) and Group 2 (controls, n = 15) and the data were analyzed with appropriate statistical tests...
July 2016: Journal of Family Medicine and Primary Care
https://www.readbyqxmd.com/read/28216640/the-ubiquitin-ligase-cullin5-socs2-regulates-ndr1-stk38-stability-and-nf-%C3%AE%C2%BAb-transactivation
#6
Indranil Paul, Tanveer S Batth, Diego Iglesias-Gato, Amna Al-Araimi, Ibrahim Al-Haddabi, Amira Alkharusi, Gunnar Norstedt, Jesper V Olsen, Fahad Zadjali, Amilcar Flores-Morales
SOCS2 is a pleiotropic E3 ligase. Its deficiency is associated with gigantism and organismal lethality upon inflammatory challenge. However, mechanistic understanding of SOCS2 function is dismal due to our unawareness of its protein substrates. We performed a mass spectrometry based proteomic profiling upon SOCS2 depletion and yield quantitative data for ~4200 proteins. Through this screen we identify a novel target of SOCS2, the serine-threonine kinase NDR1. Over-expression of SOCS2 accelerates turnover, while its knockdown stabilizes, endogenous NDR1 protein...
February 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28216434/human-nlrp3-inflammasome-activity-is-regulated-by-and-potentially-targetable-via-btk
#7
Xiao Liu, Tica Pichulik, Olaf-Oliver Wolz, Truong-Minh Dang, Andrea Stutz, Carly Dillen, Magno Delmiro Garcia, Helene Kraus, Sabine Dickhöfer, Ellen Daiber, Lisa Münzenmayer, Silke Wahl, Nikolaus Rieber, Jasmin Kümmerle-Deschner, Amir Yazdi, Mirita Franz-Wachtel, Boris Macek, Markus Radsak, Sebastian Vogel, Berit Schulte, Juliane Sarah Walz, Dominik Hartl, Eicke Latz, Stephan Stilgenbauer, Bodo Grimbacher, Lloyd Miller, Cornelia Brunner, Christiane Wolz, Alexander N R Weber
BACKGROUND: The Nod-like receptor, NACHT, LRR and PYD domains-containing protein 3 (NLRP3), and Bruton's tyrosine kinase (BTK) are protagonists in innate and adaptive immunity, respectively: NLRP3 senses exogenous and endogenous insults leading to inflammasome activation, which occurs spontaneously in Muckle-Wells Syndrome (MWS); BTK mutations cause the genetic immunodeficiency X-linked agammaglobulinemia (XLA). However, to date few proteins that regulate NLRP3 inflammasome activity in human primary immune cells have been identified and clinically promising pharmacological targeting strategies remain elusive...
February 16, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28216144/patient-ipsc-derived-neurons-for-disease-modeling-of-frontotemporal-dementia-with-mutation-in-chmp2b
#8
Yu Zhang, Benjamin Schmid, Nanett K Nikolaisen, Mikkel A Rasmussen, Blanca I Aldana, Mikkel Agger, Kirstine Calloe, Tina C Stummann, Hjalte M Larsen, Troels T Nielsen, Jinrong Huang, Fengping Xu, Xin Liu, Lars Bolund, Morten Meyer, Lasse K Bak, Helle S Waagepetersen, Yonglun Luo, Jørgen E Nielsen, Bjørn Holst, Christian Clausen, Poul Hyttel, Kristine K Freude
The truncated mutant form of the charged multivesicular body protein 2B (CHMP2B) is causative for frontotemporal dementia linked to chromosome 3 (FTD3). CHMP2B is a constituent of the endosomal sorting complex required for transport (ESCRT) and, when mutated, disrupts endosome-to-lysosome trafficking and substrate degradation. To understand the underlying molecular pathology, FTD3 patient induced pluripotent stem cells (iPSCs) were differentiated into forebrain-type cortical neurons. FTD3 neurons exhibited abnormal endosomes, as previously shown in patients...
February 6, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28214760/genotyping-analysis-of-protein-s-tokushima-k196e-and-the-involvement-of-protein-s-antigen-and-activity-in-patients-with-recurrent-pregnancy-loss
#9
Yasushi Matsukawa, Eriko Asano, Tomohide Tsuda, Hiroyuki Kuma, Tamao Kitaori, Kinue Katano, Yasuhiko Ozaki, Mayumi Sugiura-Ogasawara
OBJECTIVE: Preston et al. indicated that Protein S (PS) deficiency was associated with stillbirths but not miscarriages. The PS-Tokushima missense variant was reported to serve as a genetic risk factor for deep vein thrombosis in the Japanese population. A previous cross-sectional study showed no increase in the prevalence of PS-Tokushima in patients with recurrent early pregnancy loss or in patients with intra uterine fetal death and/or fetal growth restriction. There has been limited number of prospective studies examining the pregnancy outcome in patients with both a PS deficiency and recurrent pregnancy loss (RPL)...
February 8, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28213849/widespread-expression-of-a-membrane-tethered-version-of-the-soluble-lysosomal-enzyme-palmitoyl-protein-thioesterase-1
#10
Charles Shyng, Shannon L Macauley, Joshua T Dearborn, Mark S Sands
"Cross-correction," the transfer of soluble lysosomal enzymes between neighboring cells, forms the foundation for therapeutics of lysosomal storage disorders (LSDs). However, "cross-correction" poses a significant barrier to studying the role of specific cell types in LSD pathogenesis. By expressing the native enzyme in only one cell type, neighboring cell types are invariably corrected. In this study, we present a strategy to limit "cross-correction" of palmitoyl-protein thioesterase-1(PPT1), a lysosomal hydrolase deficient in Infantile Neuronal Ceroid Lipofuscinosis (INCL, Infantile Batten disease) to the lysosomal membrane via the C-terminus of lysosomal associated membrane protein-1 (LAMP1)...
February 18, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28211163/new-functional-assays-to-selectively-quantify-the-apc-and-tfpi-cofactor-activities-of-protein-s-in-plasma
#11
N Alshaikh, J Rosing, M C L G D Thomassen, E Castoldi, P Simioni, T M Hackeng
BACKGROUND: Protein S plays an important role in the down-regulation of coagulation as cofactor for activated protein C (APC) and tissue factor pathway inhibitor (TFPI). AIM: To develop functional assays to quantify the APC- and TFPI-cofactor activities of protein S in plasma. METHODS: APC- and TFPI-cofactor activities of protein S in plasma were measured using calibrated automated thrombography in protein S-depleted plasma supplemented with a small amount of sample plasma either in the presence of anti-TFPI antibodies and APC (APC-cofactor activity) or at excess full-length TFPI without APC (TFPI-cofactor activity)...
February 17, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28209764/kcnj11-ablation-is-associated-with-increased-nitro-oxidative-stress-during-ischemia-reperfusion-injury-implications-for-human-ischemic-cardiomyopathy
#12
Bo Zhang, Tatiana Novitskaya, Debra G Wheeler, Zhaobin Xu, Elena Chepurko, Ryan Huttinger, Heng He, Saradhadevi Varadharaj, Jay L Zweier, Yanna Song, Meng Xu, Frank E Harrell, Yan Ru Su, Tarek Absi, Mark J Kohr, Mark T Ziolo, Dan M Roden, Christian M Shaffer, Cristi L Galindo, Quinn S Wells, Richard J Gumina
BACKGROUND: Despite increased secondary cardiovascular events in patients with ischemic cardiomyopathy (ICM), the expression of innate cardiac protective molecules in the hearts of patients with ICM is incompletely characterized. Therefore, we used a nonbiased RNAseq approach to determine whether differences in cardiac protective molecules occur with ICM. METHODS AND RESULTS: RNAseq analysis of human control and ICM left ventricular samples demonstrated a significant decrease in KCNJ11 expression with ICM...
February 2017: Circulation. Heart Failure
https://www.readbyqxmd.com/read/28202615/il-13-mediated-regulation-of-learning-and-memory
#13
Tiroyaone M Brombacher, Justin K Nono, Keisha S De Gouveia, Nokuthula Makena, Matthew Darby, Jacqueline Womersley, Ousman Tamgue, Frank Brombacher
The role of proinflammatory cytokines in cognitive function has been investigated with both beneficial and possible detrimental effects, depending on the cytokine. More recently, the type 2 IL-4 has been demonstrated to play a role in cognition. In this study, using the Morris water maze task, we demonstrate that IL-13-deficient mice are significantly impaired in working memory as well as attenuated reference memory, both functions essential for effective complex learning. During the learning process, wild-type mice increased the number of CD4(+) T cells in the meninges and production of IL-13, whereas neither Morris water maze-trained IL-4 nor trained IL-13-deficient mice were able to increase CD4(+) T cells in the meninges...
February 15, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28201999/effect-of-myeloid-differentiation-primary-response-gene-88-on-expression-profiles-of-genes-during-the-development-and-progression-of-helicobacter-induced-gastric-cancer
#14
Ivonne Lozano-Pope, Arnika Sharma, Michael Matthias, Kelly S Doran, Marygorret Obonyo
BACKGROUND: Gastric cancer is one of the most common and lethal type of cancer worldwide. Infection with Helicobacter pylori (H. pylori) is recognized as the major cause of gastric cancer. However, it remains unclear the mechanism by which Helicobacter infection leads to gastric cancer. Furthermore, the underlying molecular events involved during the progression of Helicobacter infection to gastric malignancy are not well understood. In previous studies, we demonstrated that that H. felis-infected Myd88 (-/-) mice exhibited dramatic pathology and an accelerated progression to gastric dysplasia; however, the MyD88 downstream gene targets responsible for this pathology have not been described...
February 15, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28195648/hematology-and-biochemistry-of-aging-evidence-of-anemia-of-the-elderly-in-old-dogs
#15
Lauren B Radakovich, Stephen C Pannone, Matthew P Truelove, Christine S Olver, Kelly S Santangelo
BACKGROUND: Effects of aging on hematologic and biochemical variables are well described in people. Anemia of the elderly is attributed to iron deficiency, anemia of chronic disease, chronic kidney disease, myelodysplasia, or idiopathic causes. Limited studies have examined these variables in aging dogs, but they have typically examined single breeds in research settings. OBJECTIVE: The objective of this study was to identify differences in CBC and biochemistry values between adult and aged dogs of many breeds...
February 13, 2017: Veterinary Clinical Pathology
https://www.readbyqxmd.com/read/28195532/horizontal-transfer-of-whole-mitochondria-restores-tumorigenic-potential-in-mitochondrial-dna-deficient-cancer-cells
#16
Lan-Feng Dong, Jaromira Kovarova, Martina Bajzikova, Ayenachew Bezawork-Geleta, David Svec, Berwini Endaya, Karishma Sachaphibulkij, Ana R Coelho, Natasa Sebkova, Anna Ruzickova, An S Tan, Katarina Kluckova, Kristyna Judasova, Katerina Zamecnikova, Zuzana Rychtarcikova, Vinod Gopalan, Margaryta Sobol, Bing Yan, Bijay Pattnaik, Naveen Bhatraju, Jaroslav Truksa, Pavel Stopka, Pavel Hozak, Alfred Lam, Radislav Sedlacek, Paulo J Oliveira, Mikael Kubista, Anurag Agrawal, Katerina Dvorakova-Hortova, Jakub Rohlena, Michael V Berridge, Jiri Neuzil
Recently we showed that generation of tumours in syngeneic mice by cells devoid of mitochondrial (mt) DNA (ρ(0) cells) is linked to acquisition of the host mtDNA. However, the mechanism of mtDNA movement between cells remains unresolved. To determine whether transfer of mtDNA involves whole mitochondria, we injected B16ρ(0) mouse melanoma cells into syngeneic C57BL/6N(su9-DsRed2) mice that express red fluorescent protein in their mitochondria. We document that mtDNA is acquired by transfer of whole mitochondria from the host animal, leading to normalisation of mitochondrial respiration...
February 14, 2017: ELife
https://www.readbyqxmd.com/read/28195158/infection-derived-lipids-elicit-an-immune-deficiency-circuit-in-arthropods
#17
Dana K Shaw, Xiaowei Wang, Lindsey J Brown, Adela S Oliva Chávez, Kathryn E Reif, Alexis A Smith, Alison J Scott, Erin E McClure, Vishant M Boradia, Holly L Hammond, Eric J Sundberg, Greg A Snyder, Lei Liu, Kathleen DePonte, Margarita Villar, Massaro W Ueti, José de la Fuente, Robert K Ernst, Utpal Pal, Erol Fikrig, Joao H F Pedra
The insect immune deficiency (IMD) pathway resembles the tumour necrosis factor receptor network in mammals and senses diaminopimelic-type peptidoglycans present in Gram-negative bacteria. Whether unidentified chemical moieties activate the IMD signalling cascade remains unknown. Here, we show that infection-derived lipids 1-palmitoyl-2-oleoyl-sn-glycero-3-phosphoglycerol (POPG) and 1-palmitoyl-2-oleoyl diacylglycerol (PODAG) stimulate the IMD pathway of ticks. The tick IMD network protects against colonization by three distinct bacteria, that is the Lyme disease spirochete Borrelia burgdorferi and the rickettsial agents Anaplasma phagocytophilum and A...
February 14, 2017: Nature Communications
https://www.readbyqxmd.com/read/28195063/generation-of-membrane-bound-catechol-o-methyl-transferase-deficient-mice-with-disctinct-sex-dependent-behavioral-phenotype
#18
A Tammimaki, A Aonurm-Helm, F P Zhang, M Poutanen, G Duran-Torres, A Garcia-Horsman, P T Mannisto
Catechol-O-methyltransferase (COMT) has two isoforms: soluble (S-COMT), which resides in the cytoplasm, and membrane-bound (MB-MT), anchored to intracellular membranes. COMT is involved in the O-methylation of L-DOPA, dopamine and other catechols. The exact role of MB-COMT is still mostly unclear. We wanted to create a novel genetically modified mouse model that specifically lacks MB-COMT activity and to study their behavioral phenotype. MB-COMT knock-in mutant mice were generated by introducing two point mutations in exon 2 of the Comt gene (ATGCTG->GAGCTC disabling the function of the P2 promoter and allowing only the P1-regulated S-COMT transcription...
December 2016: Journal of Physiology and Pharmacology: An Official Journal of the Polish Physiological Society
https://www.readbyqxmd.com/read/28194527/impairment-of-infectious-laryngotracheitis-virus-replication-by-deletion-of-the-ul-1-gene
#19
M Nadimpalli, S W Lee, J M Devlin, J R Gilkerson, C A Hartley
Infectious laryngotracheitis virus (ILTV) encodes several unique genes, including a pair of unique nuclear proteins UL0 and UL[-1] that are expressed during replication in cell culture. Although the UL0 gene has been shown to be dispensable for replication, the role of UL[-1] has not been elucidated. In this study a deletion mutant of ILTV lacking the UL[-1] gene was constructed using homologous recombination. The coding sequences of the gene were replaced with the gene for enhanced green fluorescent protein and the cytomegalovirus major immediate early promoter element...
February 13, 2017: Archives of Virology
https://www.readbyqxmd.com/read/28193861/galectin-3-directs-antimicrobial-guanylate-binding-proteins-to-vacuoles-furnished-with-bacterial-secretion-systems
#20
Eric M Feeley, Danielle M Pilla-Moffett, Erin E Zwack, Anthony S Piro, Ryan Finethy, Joseph P Kolb, Jennifer Martinez, Igor E Brodsky, Jörn Coers
Many invasive bacteria establish pathogen-containing vacuoles (PVs) as intracellular niches for microbial growth. Immunity to these infections is dependent on the ability of host cells to recognize PVs as targets for host defense. The delivery of several host defense proteins to PVs is controlled by IFN-inducible guanylate binding proteins (GBPs), which themselves dock to PVs through poorly characterized mechanisms. Here, we demonstrate that GBPs detect the presence of bacterial protein secretion systems as "patterns of pathogenesis" associated with PVs...
February 13, 2017: Proceedings of the National Academy of Sciences of the United States of America
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