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https://www.readbyqxmd.com/read/28528167/cxcl1-inhibition-regulates-uvb-induced-skin-inflammation-and-tumorigenesis-in-xpa-deficient-mice
#1
Makoto Kunisada, Chieko Hosaka, Chihiro Takemori, Eiji Nakano, Chikako Nishigori
Xeroderma pigmentosum complementation group A (XP-A) is a hereditary disease characterized by early onset of skin cancers and freckles-like pigmented maculae in the sun-exposed sites. Although etiology of predisposition to UV-induced skin tumors in XP-A is well investigated as a repair deficiency in UV-induced DNA damage, the mechanism of exaggerated sunburn in patients with XP-A and whether UV-induced inflammation relates to skin tumor-prone phenotype remains to be elucidated. Using gene profiling of XP-A model mice, Xpa-deficient mice, we found that expression of CXCL1 in the skin and blood levels of in Xpa-deficient mice increased significantly after UVB exposure at an even a limited area in comparison to those of wild-type mice...
May 17, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28526948/an-innovative-strategy-to-clone-positive-modifier-genes-of-defects-caused-by-mtdna-mutations-mrps18c-as-suppressor-gene-of-m-3946g-a-mutation-in-mt-nd1-gene
#2
María Elena Rodríguez-García, Francisco Javier Cotrina-Vinagre, Patricia Carnicero-Rodríguez, Francisco Martínez-Azorín
We have developed a new functional complementation approach to clone modifier genes which overexpression is able to suppress the biochemical defects caused by mtDNA mutations (suppressor genes). This strategy consists in transferring human genes into respiratory chain-deficient fibroblasts, followed by a metabolic selection in a highly selective medium. We used a normalized expression cDNA library in an episomal vector (pREP4) to transfect the fibroblasts, and a medium with glutamine and devoid of any carbohydrate source to select metabolically...
May 19, 2017: Human Genetics
https://www.readbyqxmd.com/read/28522451/ada2-deficiency-dada2-as-an-unrecognised-cause-of-early-onset-polyarteritis-nodosa-and-stroke-a-multicentre-national-study
#3
Roberta Caorsi, Federica Penco, Alice Grossi, Antonella Insalaco, Alessia Omenetti, Maria Alessio, Giovanni Conti, Federico Marchetti, Paolo Picco, Alberto Tommasini, Silvana Martino, Clara Malattia, Romina Gallizi, Rosa Anna Podda, Annalisa Salis, Fernanda Falcini, Francesca Schena, Francesca Garbarino, Alessia Morreale, Manuela Pardeo, Claudia Ventrici, Chiara Passarelli, Qing Zhou, Mariasavina Severino, Carlo Gandolfo, Gianluca Damonte, Alberto Martini, Angelo Ravelli, Ivona Aksentijevich, Isabella Ceccherini, Marco Gattorno
OBJECTIVES: To analyse the prevalence of CECR1 mutations in patients diagnosed with early onset livedo reticularis and/or haemorrhagic/ischaemic strokes in the context of inflammation or polyarteritis nodosa (PAN). Forty-eight patients from 43 families were included in the study. METHODS: Direct sequencing of CECR1 was performed by Sanger analysis. Adenosine deaminase 2 (ADA2) enzymatic activity was analysed in monocyte isolated from patients and healthy controls incubated with adenosine and with or without an ADA1 inhibitor...
May 18, 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/28516949/paroxysmal-nocturnal-haemoglobinuria
#4
REVIEW
Anita Hill, Amy E DeZern, Taroh Kinoshita, Robert A Brodsky
Paroxysmal nocturnal haemoglobinuria (PNH) is a clonal haematopoietic stem cell (HSC) disease that presents with haemolytic anaemia, thrombosis and smooth muscle dystonias, as well as bone marrow failure in some cases. PNH is caused by somatic mutations in PIGA (which encodes phosphatidylinositol N-acetylglucosaminyltransferase subunit A) in one or more HSC clones. The gene product of PIGA is required for the biosynthesis of glycosylphosphatidylinositol (GPI) anchors; thus, PIGA mutations lead to a deficiency of GPI-anchored proteins, such as complement decay-accelerating factor (also known as CD55) and CD59 glycoprotein (CD59), which are both complement inhibitors...
May 18, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28515336/the-effects-of-micronutrient-deficiencies-on-bacterial-species-from-the-human-gut-microbiota
#5
Matthew C Hibberd, Meng Wu, Dmitry A Rodionov, Xiaoqing Li, Jiye Cheng, Nicholas W Griffin, Michael J Barratt, Richard J Giannone, Robert L Hettich, Andrei L Osterman, Jeffrey I Gordon
Vitamin and mineral (micronutrient) deficiencies afflict 2 billion people. Although the impact of these imbalances on host biology has been studied extensively, much less is known about their effects on the gut microbiota of developing or adult humans. Therefore, we established a community of cultured, sequenced human gut-derived bacterial species in gnotobiotic mice and fed the animals a defined micronutrient-sufficient diet, followed by a derivative diet devoid of vitamin A, folate, iron, or zinc, followed by return to the sufficient diet...
May 17, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28514690/genomic-characterization-of-murine-monocytes-reveals-c-ebp%C3%AE-transcription-factor-dependence-of-ly6c-cells
#6
Alexander Mildner, Jörg Schönheit, Amir Giladi, Eyal David, David Lara-Astiaso, Erika Lorenzo-Vivas, Franziska Paul, Louise Chappell-Maor, Josef Priller, Achim Leutz, Ido Amit, Steffen Jung
Monocytes are circulating, short-lived mononuclear phagocytes, which in mice and man comprise two main subpopulations. Murine Ly6C(+) monocytes display developmental plasticity and are recruited to complement tissue-resident macrophages and dendritic cells on demand. Murine vascular Ly6C(-) monocytes patrol the endothelium, act as scavengers, and support vessel wall repair. Here we characterized population and single cell transcriptomes, as well as enhancer and promoter landscapes of the murine monocyte compartment...
May 16, 2017: Immunity
https://www.readbyqxmd.com/read/28512763/impact-of-mlh1-expression-on-tumour-evolution-after-curative-surgical-tumour-resection-in-a-murine-orthotopic-xenograft-model-for-human-msi-colon-cancer
#7
Katy Meunier, Marianne Ferron, Claire Calmel, Jean-François Fléjou, Marc Pocard, Françoise Praz
Colorectal cancers (CRCs) displaying microsatellite instability (MSI) most often result from MLH1 deficiency. The aim of this study was to assess the impact of MLH1 expression per se on tumour evolution after curative surgical resection using a xenograft tumour model. Transplantable tumours established with the human MLH1-deficient HCT116 cell line and its MLH1-complemented isogenic clone, mlh1-3, were implanted onto the caecum of NOD/SCID mice. Curative surgical resection was performed at day 10 in half of the animals...
May 16, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28509359/the-dna-translocase-rad5a-acts-independently-of-the-other-main-dna-repair-pathways-and-requires-both-its-atpase-and-ring-domain-for-activity-in-arabidopsis-thaliana
#8
Tobias Klemm, Anja Mannuß, Daniela Kobbe, Alexander Knoll, Oliver Trapp, Annika Dorn, Holger Puchta
Multiple pathways exist to repair DNA damage induced by methylating and cross-linking agents in Arabidopsis thaliana. The SWI2/SNF2 translocase RAD5A, the functional homolog of budding yeast Rad5 that is required for the error-free branch of post replicative repair, plays a surprisingly prominent role in the repair of both kinds of lesions in Arabidopsis. Here we show that both the ATPase domain and the ubiquitination function of the RING domain of the Arabidopsis protein are essential for the cellular response to different forms of DNA damage...
May 16, 2017: Plant Journal: for Cell and Molecular Biology
https://www.readbyqxmd.com/read/28508122/a-trivalent-enzymatic-system-for-uricolytic-therapy-of-hprt-deficiency-and-lesch-nyhan-disease
#9
Luca Ronda, Marialaura Marchetti, Riccardo Piano, Anastasia Liuzzi, Romina Corsini, Riccardo Percudani, Stefano Bettati
PURPOSE: Because of the evolutionary loss of the uricolytic pathway, humans accumulate poorly soluble urate as the final product of purine catabolism. Restoration of uricolysis through enzyme therapy is a promising treatment for severe hyperuricemia caused by deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT). To this end, we studied the effect of PEG conjugation on the activity and stability of the enzymatic complement required for conversion of urate into the more soluble (S)-allantoin...
May 15, 2017: Pharmaceutical Research
https://www.readbyqxmd.com/read/28502327/fanconi-anemia-and-laron-syndrome
#10
Inma Castilla-Cortazar, Julieta Rodriguez de Ita, Gabriel Amador Aguirre, Fabiola Castorena-Torres, Jesús Ortiz-Urbina, Mariano García-Magariño, Rocío García de la Garza, Carlos Diaz Olachea, Martha Irma Elizondo Leal
BACKGROUND: Fanconi anemia (FA) is a condition characterized by genetic instability and short stature, which is due to growth hormone (GH) deficiency in most cases. However, no apparent relationships have been identified between FA complementation group genes and GH. In this study, we thereby considered an association between FA and Laron syndrome (LS) (insulin-like growth factor 1 [IGF-1] deficiency). METHODS: A 21-year-old female Mexican patient with a genetic diagnosis of FA was referred to our research department for an evaluation of her short stature...
May 2017: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/28500075/overexpression-of-human-cd55-and-cd59-or-treatment-with-human-cd55-protects-against-renal-ischemia-reperfusion-injury-in-mice
#11
Anjan K Bongoni, Bo Lu, Evelyn J Salvaris, Veena Roberts, Doreen Fang, Jennifer L McRae, Nella Fisicaro, Karen M Dwyer, Peter J Cowan
Deficiency in the membrane-bound complement regulators CD55 and CD59 exacerbates renal ischemia-reperfusion injury (IRI) in mouse models, but the effect of increasing CD55 and CD59 activity has not been examined. In this study, we investigated the impact of overexpression of human (h) CD55 ± hCD59 or treatment with soluble rhCD55 in a mouse model of renal IRI. Unilaterally nephrectomised mice were subjected to 18 (mild IRI) or 22 min (moderate IRI) warm renal ischemia, and analyzed 24 h after reperfusion for renal function (serum creatinine and urea), complement deposition (C3b/c and C9), and infiltration of neutrophils and macrophages...
May 12, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28500044/rpon-%C3%AF-54-is-required-for-floc-formation-but-not-for-extracellular-polysaccharide-biosynthesis-in-a-floc-forming-aquincola-tertiaricarbonis-strain
#12
Dianzhen Yu, Ming Xia, Liping Zhang, Yulong Song, You Duan, Tong Yuan, Minjie Yao, Liyou Wu, Chunyuan Tian, Zhenbin Wu, Xiangzhen Li, Jizhong Zhou, Dongru Qiu
Some bacteria are capable of forming flocs in which bacterial cells are self-flocculated by secreted extracellular polysaccharides and other biopolymers. The floc-forming bacteria play a central role in activated sludge, which has been widely utilized for the treatment of municipal sewage and industrial wastewater. Here we use a floc-forming bacterium, Aquincola tertiaricarbonis RN12, as a model to explore the biosynthesis of EPS and the regulation of floc-formation. A large gene cluster for exopolysaccharide biosynthesis and a gene encoding the alternative sigma factor RpoN1, one of the four paralogues, have been identified in the floc-formation-deficient mutants generated by transposon mutagenesis and the gene functions have been further confirmed by genetic complementation analyses...
May 12, 2017: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/28498327/structure-expression-and-functional-analysis-of-the-hexokinase-gene-family-in-cassava
#13
Meng-Ting Geng, Yuan Yao, Yun-Lin Wang, Xiao-Hui Wu, Chong Sun, Rui-Mei Li, Shao-Ping Fu, Rui-Jun Duan, Jiao Liu, Xin-Wen Hu, Jian-Chun Guo
Hexokinase (HXK) proteins play important roles in catalyzing hexose phosphorylation and sugar sensing and signaling. To investigate the roles of HXKs in cassava tuber root development, seven HXK genes (MeHXK1-7) were isolated and analyzed. A phylogenetic analysis revealed that the MeHXK family can be divided into five subfamilies of plant HXKs. MeHXKs were clearly divided into type A (MeHXK1) and type B (MeHXK2-7) based on their N-terminal sequences. MeHXK1-5 all had typical conserved regions and similar protein structures to the HXKs of other plants; while MeHXK6-7 lacked some of the conserved regions...
May 12, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28487087/recurrent-respiratory-tract-infections-rrti-in-the-elderly-a-late-onset-mild-immunodeficiency
#14
Esther van de Vosse, Monique M van Ostaijen-Ten Dam, René Vermaire, Els M Verhard, Jacqueline L Waaijer, Jaap A Bakker, Sandra T Bernards, Hermann Eibel, Maarten J van Tol, Jaap T van Dissel, Margje H Haverkamp
Elderly with late-onset recurrent respiratory tract infections (RRTI) often have specific anti-polysaccharide antibody deficiency (SPAD). We hypothesized that late-onset RRTI is caused by mild immunodeficiencies, such as SPAD, that remain hidden through adult life. We analyzed seventeen elderly RRTI patients and matched controls. We determined lymphocyte subsets, expression of BAFF receptors, serum immunoglobulins, complement pathways, Pneumovax-23 vaccination response and genetic variations in BAFFR and MBL2...
May 6, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28486149/dietary-supplementation-with-long-chain-monounsaturated-fatty-acid-isomers-decreases-atherosclerosis-and-alters-lipoprotein-proteomes-in-ldlr-mice
#15
Zhi-Hong Yang, Scott M Gordon, Denis Sviridov, Shuibang Wang, Robert L Danner, Milton Pryor, Boris Vaisman, Yuka Shichijo, Nobushige Doisaki, Alan T Remaley
BACKGROUND AND AIMS: Concentrated fish oils, containing a mixture of long-chain monounsaturated fatty acids (LCMUFA) with aliphatic chains longer than 18 C atoms (i.e., C20:1 and C22:1), have been shown to attenuate atherosclerosis development in mouse models. It is not clear, however, how individual LCMUFA isomers may act on atherosclerosis. METHODS: In the present study, we used saury fish oil-derived concentrates enriched in either C20:1 or C22:1 isomer fractions to investigate their individual effect on atherosclerosis and lipoprotein metabolism...
April 25, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28484478/identification-of-a-novel-alternative-splicing-variant-of-vvpma1-in-grape-root-under-salinity
#16
Ning Han, Xing-Long Ji, Yuan-Peng Du, Xi He, Xin-Jie Zhao, Heng Zhai
It has been well-demonstrated that the control of plasma membrane H(+)-ATPase (PM H(+)-ATPase) activity is important to plant salt tolerance. This study found a significant increase in PM H(+)-ATPase (PMA) activity in grape root exposed to NaCl. Furthermore, 7 Vitis vinifera PM H(+)-ATPase genes (VvPMAs) were identified within the grape genome and the expression response of these VvPMAs in grape root under salinity was analyzed. Two VvPMAs (VvPMA1 and VvPMA3) were expressed more strongly in roots than the other five VvPMAs...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28483049/the-rice-tcd11-encoding-plastid-ribosomal-protein-s6-is-essential-for-chloroplast-development-at-low-temperature
#17
Wen-Juan Wang, Kai-Lun Zheng, Xiao-Di Gong, Jian-Long Xu, Ji-Rong Huang, Dong-Zhi Lin, Yan-Jun Dong
Plastid ribosome proteins (PRPs) are important components for chloroplast biogenesis and early chloroplast development. Although it has been known that chloroplast ribosomes are similar to bacterial ones, the precise molecular function of ribosomal proteins remains to be elucidated in rice. Here, we identified a novel rice mutant, designated tcd11 (thermo-sensitive chlorophyll-deficient mutant 11), characterized by the albino phenotype until it died at 20°C, while displaying normal phenotype at 32°C. The alteration of leaf color in tcd11 mutants was aligned with chlorophyll (Chl) content and chloroplast development...
June 2017: Plant Science: An International Journal of Experimental Plant Biology
https://www.readbyqxmd.com/read/28480786/ultraviolet-a1-irradiation-therapy-for-systemic-lupus-erythematosus
#18
H McGrath
Systemic lupus erythematosus (lupus, SLE) is a chronic autoimmune disease characterized by the production of autoantibodies, which bind to antigens and are deposited within tissues to fix complement, resulting in widespread systemic inflammation. The studies presented herein are consistent with hyperpolarized, adenosine triphosphate (ATP)-deficient mitochondria being central to the disease process. These hyperpolarized mitochondria resist the depolarization required for activation-induced apoptosis. The mitochondrial ATP deficits add to this resistance to apoptosis and also reduce the macrophage energy that is needed to clear apoptotic bodies...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/28475854/peripheral-complement-interactions-with-amyloid-%C3%AE-peptides-in-alzheimer-s-disease-erythrocyte-clearance-of-amyloid-%C3%AE-peptides
#19
William D Brubaker, Andrés Crane, Jenny U Johansson, Kevin Yen, Kristina Garfinkel, Diego Mastroeni, Priya Asok, Bonnie Bradt, Marwan Sabbagh, Tanya L Wallace, Courtney Glavis-Bloom, Andrea J Tenner, Joseph Rogers
INTRODUCTION: Although amyloid β peptide (Aβ) is cleared from the brain to cerebrospinal fluid and the peripheral circulation, mechanisms for its removal from blood remain unresolved. Primates have uniquely evolved a highly effective peripheral clearance mechanism for pathogens, immune adherence, in which erythrocyte complement receptor 1 (CR1) plays a major role. METHODS: Multidisciplinary methods were used to demonstrate immune adherence capture of Aβ by erythrocytes and its deficiency in Alzheimer's disease (AD)...
May 2, 2017: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/28475236/-if-it-weren-t-for-me%C3%A2-perspectives-of-family-carers-of-older-people-receiving-professional-care
#20
Benedicte Carlsen, Kjetil Lundberg
BACKGROUND: In the Scandinavian countries and elsewhere, family care is important as a complement for older people in the professional care system. Better understanding of this role could lead to better cooperation between professionals and family carers and better use of family carers as a resource in care for older people. AIM: The aim of this study was to explore experiences of the role of family carers of older people in need of services and therefore to increase our understanding of this role...
May 5, 2017: Scandinavian Journal of Caring Sciences
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