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Complement deficiency

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https://www.readbyqxmd.com/read/29343682/intermittent-c1-inhibitor-deficiency-associated-with-recessive-inheritance-functional-and-structural-insight
#1
Sonia Caccia, Chiara Suffritti, Thomas Carzaniga, Romina Berardelli, Silvia Berra, Vincenzo Martorana, Annamaria Fra, Christian Drouet, Marco Cicardi
C1-inhibitor is a serine protease inhibitor (serpin) controlling complement and contact system activation. Gene mutations result in reduced C1-inhibitor functional plasma level causing hereditary angioedema, a life-threatening disorder. Despite a stable defect, the clinical expression of hereditary angioedema is unpredictable, and the molecular mechanism underlying this variability remains undisclosed. Here we report functional and structural studies on the Arg378Cys C1-inhibitor mutant found in a patient presenting reduced C1-inhibitor levels, episodically undergoing normalization...
January 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29340699/long-term-expression-of-glomerular-genes-in-diabetic-nephropathy
#2
Dominik Chittka, Bernhard Banas, Laura Lennartz, Franz Josef Putz, Kathrin Eidenschink, Sebastian Beck, Thomas Stempfl, Christoph Moehle, Simone Reichelt-Wurm, Miriam C Banas
Background: Although diabetic nephropathy (DN) is the most common cause for end-stage renal disease in western societies, its pathogenesis still remains largely unclear. A different gene pattern of diabetic and healthy kidney cells is one of the probable explanations. Numerous signalling pathways have emerged as important pathophysiological mechanisms for diabetes-induced renal injury. Methods: Glomerular cells, as podocytes or mesangial cells, are predominantly involved in the development of diabetic renal lesions...
January 11, 2018: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/29335801/igm-augments-complement-bactericidal-activity-with-serum-from-a-patient-with-a-novel-cd79a-mutation
#3
Jeroen D Langereis, Stefanie S Henriet, Saskia Kuipers, Corry M R Weemaes, Mirjam van der Burg, Marien I de Jonge, Michiel van der Flier
Antibody replacement therapy for patients with antibody deficiencies contains only IgG. As a result, concurrent IgM and IgA deficiency present in a large proportion of antibody deficient patients persists. Especially patients with IgM deficiency remain at risk for recurrent infections of the gastrointestinal and respiratory tract. The lack of IgM in the current IgG replacement therapy is likely to contribute to the persistence of these mucosal infections because this antibody class is especially important for complement activation on the mucosal surface...
January 15, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29330556/evolution-of-the-phosphatidylcholine-biosynthesis-pathways-in-green-algae-combinatorial-diversity-of-methyltransferases
#4
Takashi Hirashima, Masakazu Toyoshima, Takashi Moriyama, Naoki Sato
Phosphatidylcholine (PC) is one of the most common phospholipids in eukaryotes, although some green algae such as Chlamydomonas reinhardtii are known to lack PC. Recently, we detected PC in four species in the genus Chlamydomonas: C. applanata NIES-2202, C. asymmetrica NIES-2207, C. debaryana NIES-2212, and C. sphaeroides NIES-2242. To reveal the PC biosynthesis pathways in green algae and the evolutionary scenario involved in their diversity, we analyzed the PC biosynthesis genes in these four algae using draft genome sequences...
January 12, 2018: Journal of Molecular Evolution
https://www.readbyqxmd.com/read/29330473/endothelial-heparan-sulfate-deficiency-reduces-inflammation-and-fibrosis-in-murine-diabetic-nephropathy
#5
Ditmer T Talsma, Kirankumar Katta, Marieke A B Ettema, Berna Kel, Marion Kusche-Gullberg, Moh R Daha, Coen A Stegeman, Jacob van den Born, Lianchun Wang
Inflammation plays a vital role in the development of diabetic nephropathy, but the underlying regulatory mechanisms are only partially understood. Our previous studies demonstrated that, during acute inflammation, endothelial heparan sulfate (HS) contributes to the adhesion and transendothelial migration of leukocytes into perivascular tissues by direct interaction with L-selectin and the presentation of bound chemokines. In the current study, we aimed to assess the role of endothelial HS on chronic renal inflammation and fibrosis in a diabetic nephropathy mouse model...
January 12, 2018: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/29324672/genome-wide-identification-expression-and-functional-analysis-of-the-alkaline-neutral-invertase-gene-family-in-pepper
#6
Long-Bin Shen, Yuan Yao, Huang He, Yu-Ling Qin, Zi-Ji Liu, Wei-Xia Liu, Zhi-Qiang Qi, Li-Jia Yang, Zhen-Mu Cao, Yan Yang
Alkaline/neutral invertase (NINV) proteins irreversibly cleave sucrose into fructose and glucose, and play important roles in carbohydrate metabolism and plant development. To investigate the role of NINVs in the development of pepper fruits, seven NINV genes (CaNINV1-7) were identified. Phylogenetic analysis revealed that the CaNINV family could be divided into α and β groups. CaNINV1-6 had typical conserved regions and similar protein structures to the NINVs of other plants, while CaNINV7 lacked amino acid sequences at the C-terminus and N-terminus ends...
January 11, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29324290/ross-river-virus-envelope-glycans-contribute-to-disease-through-activation-of-the-host-complement-system
#7
Bronwyn M Gunn, Jennifer E Jones, Reed S Shabman, Alan C Whitmore, Sanjay Sarkar, Lance K Blevins, Thomas E Morrison, Mark T Heise
Mannose binding lectin (MBL) generally plays a protective role during viral infection, yet MBL-mediated complement activation promotes Ross River virus (RRV)-induced inflammatory tissue destruction, contributing to arthritis and myositis. As MBL binds to carbohydrates, we hypothesized that N-linked glycans on the RRV envelope glycoproteins act as ligands for MBL. Using a panel of RRV mutants lacking the envelope N-linked glycans, we found that MBL deposition onto infected cells was dependent on the E2 glycans...
January 8, 2018: Virology
https://www.readbyqxmd.com/read/29323130/in-vivo-effect-of-opticin-deficiency-in-cartilage-in-a-surgically-induced-mouse-model-of-osteoarthritis
#8
Aina Farrán, Gladys Valverde-Franco, Laura Tío, Bertrand Lussier, Hassan Fahmi, Jean-Pierre Pelletier, Paul N Bishop, Jordi Monfort, Johanne Martel-Pelletier
The SLRP opticin (OPTC) has been demonstrated to be produced and degraded in osteoarthritic (OA) human cartilage. Here, we investigated the in vivo effect of OPTC deficiency in OA cartilage. OA was induced in 10-week-old Optc -/- and Optc +/+ mice. Ten weeks post-surgery, cartilage was processed for histology and immunohistochemistry. SLRP expression was determined in non-operated mouse cartilage. OA Optc -/- demonstrated significant protection against cartilage degradation. Data revealed that in non-operated Optc -/- cartilage, expression of SLRPs lumican and epiphycan was up-regulated at day 3 and in 10-week-olds (p ≤ 0...
January 11, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29322127/chemical-tracer-diffusion-of-sr-and-co-in-polycrystalline-ca-deficient-camno3-%C3%AE-with-camn2o4-precipitates
#9
Temesgen D Desissa, Nikola Kanas, Sathya P Singh, Kjell Wiik, Mari-Ann Einarsrud, Truls Norby
Diffusivity on the A- and B-site of polycrystalline perovskite CaMnO3-δ with Ca deficiency and spinel CaMn2O4 (marokite) as a secondary phase was studied using chemical tracers and secondary ion mass spectrometry (SIMS) complemented by electron probe microanalysis (EPMA). Thin films containing Sr and Co chemical tracers were deposited on the polished surface of the polycrystalline composite sample followed by annealing at 800-1200 °C for 96 h. Diffusion profiles for each tracer were determined with SIMS, followed by calculation of diffusion coefficients by fitting to appropriate models...
January 11, 2018: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/29321808/itraq-based-proteomic-analysis-to-identify-the-molecular-mechanism-of-zhibai-dihuang-granule-in-the-yin-deficiency-heat-syndrome-rats
#10
Chang-Ming Liu, Jing Chen, Su Yang, Ting-Ting Jiang, Zhong-Liang Chen, Hui-Hui Tu, Lian-Gen Mao, Yu-Ting Hu, Lin Gan, Zhong-Jie Li, Ji-Cheng Li
Background: Zhibai Dihuang Granule (ZDG) is a traditional Chinese medicine which has been used to treat Yin-deficiency-heat (YDH) syndrome for thousands of years in China. However, little work has been conducted to explore the molecular mechanism of ZDG in YDH syndrome, and the processes of YDH syndrome prevention and treatment have been developed slowly. The present study was aimed to explore the therapeutic mechanism of ZDG on YDH syndrome. Methods: The YDH syndrome rats were induced by hot Chinese herbs, then treated by ZDG orally for 1 week...
2018: Chinese Medicine
https://www.readbyqxmd.com/read/29319256/myopathy-effect-of-vitamin-d-deficiency-beyond-bones
#11
Kavita J Rawat, Nilakshi H Sabnis, Udit Saraf, Gaurav Surana
Vitamin D functions as a vitamin as well as a hormone. Its major skeletal actions are complemented by varied extra-skeletal functions. During the past decade, association between Vitamin D and its role in various non-skeletal morbidities have been recognized. It plays a role in decreasing the risk of many chronic illnesses like allergies, asthma, autoimmune diseases, diabetes, cancers, infections and cardiovascular disease. We report the case of a middle aged female with chronic quadriparesis and new onset anemia associated with Vitamin D deficiency...
October 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/29317355/identification-of-candidate-serum-biomarkers-of-childhood-onset-growth-hormone-deficiency-using-swath-ms-and-feature-selection
#12
Ignacio Ortea, Isabel Ruíz, Ramón Cañete, Javier Caballero-Villarraso, María Dolores Cañete
A typical clinical manifestation of growth hormone deficiency (GHD) is a short stature resulting from delayed growth, but GHD affects bone health, cardiovascular function and metabolic profile and therefore quality of life. Although early GH treatment during childhood has been shown to improve outcomes, no single biochemical parameter is currently available for the accurate diagnosis of GHD in children. There is hence a need for non-invasive biomarkers. In this study, the relative abundance of serum proteins from GHD children and healthy controls was measured by next-generation proteomics SWATH-MS technology...
January 6, 2018: Journal of Proteomics
https://www.readbyqxmd.com/read/29314753/functional-mannose-binding-lectin-levels-in-patients-with-pediatric-onset-systemic-lupus-erythematosus-in-remission
#13
Siyaram Didel, Deepti Suri, Amit Rawat, Surjit Singh
BACKGROUND: Complement system plays a crucial role in the pathogenesis of systemic lupus erythematosus (SLE). Excessive activation of complement causes tissue injury and SLE occurrence is typically associated with congenital deficiencies of the early components of the classical complement pathway. Mannose-binding lectin (MBL) is recognized as important causative factor in the etio-pathogenesis of SLE and MBL-2 gene has evolved as a candidate gene for SLE susceptibility. AIM: This study was done to assess the functional MBL (fMBL) level in SLE patients in remission and its co-relation with disease severity and outcome...
January 4, 2018: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/29296930/gene-transfer-into-hematopoietic-stem-cells-reduces-hlh-manifestations-in-a-murine-model-of-munc13-4-deficiency
#14
Tayebeh Soheili, Amandine Durand, Fernando E Sepulveda, Julie Rivière, Chantal Lagresle-Peyrou, Hanem Sadek, Geneviève de Saint Basile, Samia Martin, Fulvio Mavilio, Marina Cavazzana, Isabelle André-Schmutz
Patients with mutations in the UNC13D gene (coding for Munc13-4 protein) suffer from familial hemophagocytic lymphohistiocytosis type 3 (FHL3), a life-threatening immune and hyperinflammatory disorder. The only curative treatment is allogeneic hematopoietic stem cell (HSC) transplantation, although the posttreatment survival rate is not satisfactory. Here, we demonstrate the curative potential of UNC13D gene correction of HSCs in a murine model of FHL3. We generated a self-inactivating lentiviral vector, used it to complement HSCs from Unc13d-deficient (Jinx) mice, and transplanted the cells back into the irradiated Jinx recipients...
December 26, 2017: Blood Advances
https://www.readbyqxmd.com/read/29296844/potential-impact-of-complement-regulator-deficiencies-on-hemolytic-reactions-due-to-minor-abo-mismatched-transfusions
#15
Priyanka Pandey, Waseem Q Anani, Jerome L Gottschall, Gregory A Denomme
Minor ABO-mismatched transfusions are a common occurrence, although infrequent transfusion reactions occur. We sought to investigate the regulation of complement C3 activation induced by anti-A. In vitro complement C3 activation was observed with 10 of 30 group O samples and correlated with immunoglobulin M (IgM) anti-A titers. We developed an in vitro paroxysmal nocturnal hemoglobinuria (PNH) model of hemolysis in which group A1 red blood cells (RBCs) were chemically treated with 2-aminoethylisothiouronium (AET) to alter regulators of complement C3 activation...
October 24, 2017: Blood Advances
https://www.readbyqxmd.com/read/29288888/potato-native-and-wound-periderms-are-differently-affected-by-down-regulation-of-fht-a-suberin-feruloyl-transferase
#16
Liqing Jin, Qing Cai, Wenlin Huang, Keyvan Dastmalchi, Joan Rigau, Marisa Molinas, Mercè Figueras, Olga Serra, Ruth E Stark
Potato native and wound healing periderms contain an external multilayered phellem tissue (potato skin) consisting of dead cells whose cell walls are impregnated with suberin polymers. The phellem provides physical and chemical barriers to tuber dehydration, heat transfer, and pathogenic infection. Previous RNAi-mediated gene silencing studies in native periderm have demonstrated a role for a feruloyl transferase (FHT) in suberin biosynthesis and revealed how its down-regulation affects both chemical composition and physiology...
December 27, 2017: Phytochemistry
https://www.readbyqxmd.com/read/29277722/the-pathogenic-roles-of-heparan-sulfate-deficiency-in-hereditary-multiple-exostoses
#17
REVIEW
Maurizio Pacifici
Heparan sulfate (HS) is an essential component of cell surface and matrix proteoglycans (HS-PGs) that include syndecans and perlecan. Because of their unique structural features, the HS chains are able to specifically interact with signaling proteins -including bone morphogenetic proteins (BMPs)- via their HS-binding domain, regulating protein availability, distribution and action on target cells. Hereditary Multiple Exostoses (HME) is a rare pediatric disorder linked to germline heterozygous loss-of-function mutations in EXT1 or EXT2 that encode Golgi-resident glycosyltransferases responsible for HS synthesis, resulting in a systemic HS deficiency...
December 22, 2017: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29275194/coexistence-of-multiple-globin-genes-conferring-protection-against-nitrosative-stress-to-the-antarctic-bacterium-pseudoalteromonas-haloplanktis-tac125
#18
Daniela Coppola, Daniela Giordano, Lisa Milazzo, Barry D Howes, Paolo Ascenzi, Guido di Prisco, Giulietta Smulevich, Robert K Poole, Cinzia Verde
Despite the large number of globins recently discovered in bacteria, our knowledge of their physiological functions is restricted to only a few examples. In the microbial world, globins appear to perform multiple roles in addition to the reversible binding of oxygen; all these functions are attributable to the heme pocket that dominates functional properties. Resistance to nitrosative stress and involvement in oxygen chemistry seem to be the most prevalent functions for bacterial globins, although the number of globins for which functional roles have been studied via mutation and genetic complementation is very limited...
December 21, 2017: Nitric Oxide: Biology and Chemistry
https://www.readbyqxmd.com/read/29248304/glucose-6-phosphate-dehydrogenase-deficiency-mimicking-atypical-hemolytic-uremic-syndrome
#19
Patrick R Walsh, Sally Johnson, Vicky Brocklebank, Jacobo Salvatore, Martin Christian, David Kavanagh
A 4-year-old boy presented with nonimmune hemolysis, thrombocytopenia, and acute kidney injury. Investigations for an underlying cause failed to identify a definitive cause and a putative diagnosis of complement-mediated atypical hemolytic uremic syndrome (aHUS) was made. The patient was started initially on plasma exchange and subsequently eculizumab therapy, after which his kidney function rapidly improved. While on eculizumab therapy, despite adequate complement blockade, he presented 2 more times with hemolytic anemia and thrombocytopenia, but without renal involvement...
December 13, 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29247345/bone-marrow-mesenchymal-stem-cells-carrying-fancd2-mutation-differ-from-the-other-fanconi-anemia-complementation-groups-in-terms-of-tgf-%C3%AE-1-production
#20
Ilgin Cagnan, Aysen Gunel-Ozcan, Fatima Aerts-Kaya, Najim Ameziane, Baris Kuskonmaz, Josephine Dorsman, Fatma Gumruk, Duygu Uckan
Transforming growth factor beta (TGF-β) secretion from cells in the bone marrow (BM) niche affects hematopoietic stem cell (HSC) fate and has a cardinal role in HSC quiescence. BM mesenchymal stem cells (BM-MSCs), a component of the BM niche, may produce abnormal levels of TGF-β in Fanconi anemia (FA) and may play a role in bone marrow failure. Here, we molecularly and cellularly characterized FA BM-MSCs by addressing their immunophenotype, proliferation- and differentiation- capacity, reactive oxygen species (ROS) production, senescence activity as well as expression and secretion levels of TGF-β isoforms...
December 15, 2017: Stem Cell Reviews
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