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ADA Deficiency

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https://www.readbyqxmd.com/read/29379022/fused-electron-deficient-semiconducting-polymers-for-air-stable-electron-transport
#1
Ada Onwubiko, Wan Yue, Cameron Jellett, Mingfei Xiao, Hung-Yang Chen, Mahesh Kumar Ravva, David A Hanifi, Astrid-Caroline Knall, Balaji Purushothaman, Mark Nikolka, Jean-Charles Flores, Alberto Salleo, Jean-Luc Bredas, Henning Sirringhaus, Pascal Hayoz, Iain McCulloch
Conventional semiconducting polymer synthesis typically involves transition metal-mediated coupling reactions that link aromatic units with single bonds along the backbone. Rotation around these bonds contributes to conformational and energetic disorder and therefore potentially limits charge delocalisation, whereas the use of transition metals presents difficulties for sustainability and application in biological environments. Here we show that a simple aldol condensation reaction can prepare polymers where double bonds lock-in a rigid backbone conformation, thus eliminating free rotation along the conjugated backbone...
January 29, 2018: Nature Communications
https://www.readbyqxmd.com/read/29355610/maternal-t-cell-engraftment-impedes-with-diagnosis-of-a-scid-ada-patient
#2
Arnalda Lanfranchi, Vassilios Lougaris, Lucia Dora Notarangelo, Elena Soncini, Marta Comini, Alessandra Beghin, Federica Bolda, Alessandro Montanelli, Luisa Imberti, Fulvio Porta
We describe the case of a child affected by severe combined immunodeficiency (SCID) with adenosine deaminase (ADA) deficiency showing a maternal T-cell engraftment, a finding that has never been reported before. The presence of engrafted maternal T cells was misleading. Although ADA enzymatic levels were suggestive of ADA-SCID, the child did not present the classical signs of ADA deficiency; therefore, the initial diagnosis was of a conventional SCID. However, ADA toxic metabolites and molecular characterization confirmed this diagnosis...
January 16, 2018: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/29277901/community-partnership-for-healthy-sleep-research-protocol
#3
Nancy S Redeker, Monica R Ordway, Nancy Banasiak, Barbara Caldwell, Craig Canapari, Angela Crowley, Ada Fenick, Sangchoon Jeon, Meghan O'Connell, Leslie Sude, Lois S Sadler
Beginning early in life, sleep health, including adequate quality, quantity, and consistent sleep routines, is critical to growth and development, behavior, and mental and physical health. Children who live in economically stressed urban environments are at particular risk for sleep deficiency and its negative consequences. Although efficacious sleep health interventions are available, few address the context of economically stressed urban environments. The purpose of this paper is to describe a two-phase protocol for an ongoing NIH/NINR-funded community-engaged study designed to understand the perspectives of parents, community child care and pediatric health care providers about sleep habits, factors that contribute to sleep and sleep habits, sleep difficulty, and potentially useful sleep promotion strategies among children living in economically stressed urban environments...
December 26, 2017: Research in Nursing & Health
https://www.readbyqxmd.com/read/29232376/che1-aatf-interacts-with-subunits-of-the-histone-acetyltransferase-core-module-of-saga-complexes
#4
Gizem Caliskan, Ikbal C Baris, Ferhan Ayaydin, Melanie J Dobson, Muge Senarisoy, Imre M Boros, Zeki Topcu, Sevil Zencir
General Control Non-derepressible 5 (GCN5) and Alteration/Deficiency in Activation 2 and 3 proteins (ADA2 and ADA3, respectively) are subunits of the Histone AcetylTransferase (HAT) module of SAGA- and ATAC-type co-activators. We previously reported four new interacting partners of human ADA3 identified by screening a human fetal brain cDNA library using yeast two hybrid technology. One of these partners was Apoptosis-Antagonizing Transcription Factor (AATF), also known as Che-1, an RNA polymerase II-binding protein with a number of roles in different cellular processes including regulation of transcription, cell proliferation, cell cycle control, DNA damage responses and apoptosis...
2017: PloS One
https://www.readbyqxmd.com/read/29134286/proteomic-and-metabolomic-characterization-of-streptozotocin-induced-diabetic-nephropathy-in-timp3-deficient-mice
#5
Claudia Rossi, Valeria Marzano, Ada Consalvo, Mirco Zucchelli, Stefano Levi Mortera, Viviana Casagrande, Maria Mavilio, Paolo Sacchetta, Massimo Federici, Rossella Menghini, Andrea Urbani, Domenico Ciavardelli
AIMS: The tissue inhibitor of metalloproteinase TIMP3 is a stromal protein that restrains the activity of both protease and receptor in the extracellular matrix and has been found to be down-regulated in diabetic nephropathy (DN), the leading cause of end-stage renal disease in developed countries. METHODS: In order to gain deeper insights on the association of loss of TIMP3 and DN, we performed differential proteomic analysis of kidney and blood metabolic profiling of wild-type and Timp3-knockout mice before and after streptozotocin (STZ) treatment, widely used to induce insulin deficiency and hyperglycemia...
November 13, 2017: Acta Diabetologica
https://www.readbyqxmd.com/read/29097503/ryanodine-channel-complex-stabilizer-compound-s48168-arm210-as-a-disease-modifier-in-dystrophin-deficient-mdx-mice-proof-of-concept-study-and-independent-validation-of-efficacy
#6
Roberta Francesca Capogrosso, Paola Mantuano, Kitipong Uaesoontrachoon, Anna Cozzoli, Arcangela Giustino, Todd Dow, Sadish Srinivassane, Marina Filipovic, Christina Bell, Jack Vandermeulen, Ada Maria Massari, Michela De Bellis, Elena Conte, Sabata Pierno, Giulia Maria Camerino, Antonella Liantonio, Kanneboyina Nagaraju, Annamaria De Luca
Muscle fibers lacking dystrophin undergo a long-term alteration of Ca(2+) homeostasis, partially caused by a leaky Ca(2+) release ryanodine (RyR) channel. S48168/ARM210, an RyR calcium release channel stabilizer (a Rycal compound), is expected to enhance the rebinding of calstabin to the RyR channel complex and possibly alleviate the pathologic Ca(2+) leakage in dystrophin-deficient skeletal and cardiac muscle. This study systematically investigated the effect of S48168/ARM210 on the phenotype of mdx mice by means of a first proof-of-concept, short (4 wk), phase 1 treatment, followed by a 12 wk treatment (phase 2) performed in parallel by 2 independent laboratories...
November 2, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29049850/-epigenetic-control-of-early-neurodegenerative-events-in-diabetic-retinopathy-by-the-histone-deacetylase-sirt6
#7
María A Zorrilla-Zubilete, Ada Yeste, Francisco J Quintana, Debra Toiber, Raul Mostoslavsky, Dafne M Silberman
Diabetic retinopathy (DR) is one of the common complications associated with diabetes mellitus (DM) and the leading cause of blindness worldwide. Recent research has demonstrated that DR is not only a microvascular disease but may be a result of neurodegenerative processes. Moreover, glucose-induced neuron and glial cell damage may occur shortly after the onset of diabetes which makes the disease hard to diagnose at early stages. SIRT6, a NAD-dependent sirtuin deacylase, modulates aging, energy metabolism and neurodegeneration...
October 19, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28935038/bone-marrow-derived-tenascin-c-attenuates-cardiac-hypertrophy-by-controlling-inflammation
#8
Lei Song, Lai Wang, Fuqiang Li, Ada Yukht, Minghui Qin, Haley Ruther, Mingjie Yang, Aurelio Chaux, Prediman K Shah, Behrooz G Sharifi
BACKGROUND: Tenascin-C (TNC) is a highly conserved matricellular protein with a distinct expression pattern during development and disease. Remodeling of the left ventricle (LV) in response to pressure overload leads to the re-expression of the fetal gene program. OBJECTIVES: The aim of this study was to investigate the function of TNC in cardiac hypertrophy in response to pressure overload. METHODS: Pressure overload was induced in TNC knockout and wild-type mice by constricting their abdominal aorta or by infusion of angiotensin II...
September 26, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28927723/antimutagenic-activity-of-vitamin-b1-against-damages-induced-by-chemical-and-physical-mutagens-in-salmonella-typhimurium-and-escherichia-coli
#9
Jaime Sánchez-Navarrete, Myriam Arriaga-Alba, Nancy Jannet Ruiz-Pérez, Julia Dolores Toscano-Garibay
Thiamine (vitamin B1) is an essential nutrient acting mainly as an enzymatic cofactor on diverse cell processes. It has been reported that vitamin B1 has a significant role in the signaling pathways related to the response to adverse environmental conditions (chemical and physical). The objectives of this study were to evaluate the antimutagenic potential of vitamin B1 in front of DNA-alkylating agents in the presence/absence of ogt and ada repairing genes in Salmonella typhimurium strains and against damage induced by ultraviolet light type C in Escherichia coli strains mutated at the uvrABC system and recBCD enzymes...
December 2017: Toxicology in Vitro: An International Journal Published in Association with BIBRA
https://www.readbyqxmd.com/read/28877476/mtorc2-signaling-selectively-regulates-the-generation-and-function-of-tissue-resident-peritoneal-macrophages
#10
Min-Hee Oh, Samuel L Collins, Im-Hong Sun, Ada J Tam, Chirag H Patel, Matthew L Arwood, Yee Chan-Li, Jonathan D Powell, Maureen R Horton
Tissue-resident macrophages play critical roles in sentinel and homeostatic functions as well as in promoting inflammation and immunity. It has become clear that the generation of these cells is highly dependent upon tissue-specific cues derived from the microenvironment that, in turn, regulate unique differentiation programs. Recently, a role for GATA6 has emerged in the differentiation programming of resident peritoneal macrophages. We identify a critical role for mTOR in integrating cues from the tissue microenvironment in regulating differentiation and metabolic reprogramming...
September 5, 2017: Cell Reports
https://www.readbyqxmd.com/read/28842866/adenosine-deaminase-ada-deficient-severe-combined-immune-deficiency-scid-molecular-pathogenesis-and-clinical-manifestations
#11
REVIEW
Kathryn L Bradford, Federico A Moretti, Denise A Carbonaro-Sarracino, Hubert B Gaspar, Donald B Kohn
Deficiency of adenosine deaminase (ADA, EC3.5.4.4), a housekeeping enzyme of purine metabolism encoded by the Ada gene, is a cause of human severe combined immune deficiency (SCID). Numerous deleterious mutations occurring in the ADA gene have been found in patients with profound lymphopenia (T(-) B(-) NK(-)), thus underscoring the importance of functional purine metabolism for the development of the immune defense. While untreated ADA SCID is a fatal disorder, there are multiple life-saving therapeutic modalities to restore ADA activity and reconstitute protective immunity, including enzyme replacement therapy (ERT), allogeneic hematopoietic stem cell transplantation (HSCT) and gene therapy (GT) with autologous gene-corrected hematopoietic stem cells (HSC)...
October 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28842720/a-map-of-human-circular-rnas-in-clinically-relevant-tissues
#12
Philipp G Maass, Petar Glažar, Sebastian Memczak, Gunnar Dittmar, Irene Hollfinger, Luisa Schreyer, Aisha V Sauer, Okan Toka, Alessandro Aiuti, Friedrich C Luft, Nikolaus Rajewsky
Cellular circular RNAs (circRNAs) are generated by head-to-tail splicing and are present in all multicellular organisms studied so far. Recently, circRNAs have emerged as a large class of RNA which can function as post-transcriptional regulators. It has also been shown that many circRNAs are tissue- and stage-specifically expressed. Moreover, the unusual stability and expression specificity make circRNAs important candidates for clinical biomarker research. Here, we present a circRNA expression resource of 20 human tissues highly relevant to disease-related research: vascular smooth muscle cells (VSMCs), human umbilical vein cells (HUVECs), artery endothelial cells (HUAECs), atrium, vena cava, neutrophils, platelets, cerebral cortex, placenta, and samples from mesenchymal stem cell differentiation...
November 2017: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/28812413/unusual-retinopathy-in-a-child-with-severe-combined-immune-deficiency
#13
Christina Gerth-Kahlert, Amit Tiwari, Mathias M Hauri-Hohl, James V M Hanson, Angela Bahr, Anja Palmowski-Wolfe, Tayfun Güngör, Wolfgang Berger
We describe a case of an infant diagnosed with severe combined immune deficiency (Adenosine Deaminase (ADA), SCID) with severe retinopathy and associated low vision in both eyes at first examination. An extensive infectious work up revealed an enterovirus infection, which suggested an early infectious and severe retinopathy. Genetic causes of congenital retinitis pigmentosa/ Leber's congenital amaurosis could be excluded by whole exome sequencing.
August 16, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28811575/biological-and-functional-characterization-of-bone-marrow-derived-mesenchymal-stromal-cells-from-patients-affected-by-primary-immunodeficiency
#14
Nadia Starc, Daniela Ingo, Antonella Conforti, Valeria Rossella, Luigi Tomao, Angela Pitisci, Fabiola De Mattia, Immacolata Brigida, Mattia Algeri, Mauro Montanari, Giuseppe Palumbo, Pietro Merli, Paolo Rossi, Alessandro Aiuti, Franco Locatelli, Maria Ester Bernardo
Mesenchymal stromal cells (MSCs) represent a key component of bone marrow (BM) microenvironment and display immune-regulatory properties. We performed a detailed analysis of biological/functional properties of BM-MSCs derived from 33 pediatric patients affected by primary immune-deficiencies (PID-MSCs): 7 Chronic Granulomatous Disease (CGD), 15 Wiskott-Aldrich Syndrome (WAS), 11 Severe Combined Immunodeficiency (SCID). Results were compared with MSCs from 15 age-matched pediatric healthy-donors (HD-MSCs). Clonogenic and proliferative capacity, differentiation ability, immunophenotype, immunomodulatory properties were analyzed...
August 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28790117/in-vivo-validation-of-papss1-3-phosphoadenosine-5-phosphosulfate-synthase-1-as-a-cisplatin-sensitizing-therapeutic-target
#15
Ada W Y Leung, Chansey J Veinotte, Nicole Melong, Min Hee Oh, Kent Chen, Katey S S Enfield, Ian Backstrom, Corinna Warburton, Donald Yapp, Jason N Berman, Marcel B Bally, William W Lockwood
Purpose: Our previous screening efforts found that inhibition of PAPSS1 increases the potency of DNA-damaging agents in non-small cell lung cancer (NSCLC) cell lines. Here, we explored the clinical relevance of PAPSS1 and further investigated it as a therapeutic target in preclinical model systems.Experimental Design: PAPSS1 expression and cisplatin IC50 values were assessed in 52 lung adenocarcinoma cell lines. Effects of PAPSS1 inhibition on A549 cisplatin sensitivity under hypoxic and starvation conditions, in 3D spheroids, as well as in zebrafish and mouse xenografts, were evaluated...
August 8, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28748310/long-term-outcome-of-adenosine-deaminase-deficient-patients-a-single-center-experience
#16
Ori Scott, Vy Hong-Diep Kim, Brenda Reid, Anne Pham-Huy, Adelle R Atkinson, Alessandro Aiuti, Eyal Grunebaum
PURPOSE: Inherited defects in the adenosine deaminase (ADA) enzyme can cause severe combined immune deficiency (SCID) and systemic abnormalities. Management options for ADA-deficient patients include enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), and gene therapy (GT). Here, we describe the long-term benefits of these treatments. METHODS: Survival, infections, systemic sequelae, and laboratory assessments were recorded for all ADA-deficient SCID patients, managed at a single center since 1985, who survived 5 or more years following treatment...
July 26, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28704538/intestinal-calcium-and-bile-salts-facilitate-germination-of-clostridium-difficile-spores
#17
Travis J Kochan, Madeline J Somers, Alyssa M Kaiser, Michelle S Shoshiev, Ada K Hagan, Jessica L Hastie, Nicole P Giordano, Ashley D Smith, Alyxandria M Schubert, Paul E Carlson, Philip C Hanna
Clostridium difficile (C. difficile) is an anaerobic gram-positive pathogen that is the leading cause of nosocomial bacterial infection globally. C. difficile infection (CDI) typically occurs after ingestion of infectious spores by a patient that has been treated with broad-spectrum antibiotics. While CDI is a toxin-mediated disease, transmission and pathogenesis are dependent on the ability to produce viable spores. These spores must become metabolically active (germinate) in order to cause disease. C. difficile spore germination occurs when spores encounter bile salts and other co-germinants within the small intestine, however, the germination signaling cascade is unclear...
July 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28674683/infusion-of-sibling-marrow-in-a-patient-with-purine-nucleoside-phosphorylase-deficiency-leads-to-split-mixed-donor-chimerism-and-normal-immunity
#18
Laura Yeates, Mary A Slatter, Andrew R Gennery
Purine nucleoside phosphorylase (PNP) deficiency, a rare autosomal recessive metabolic disease causes combined immunodeficiency and developmental delay, hypotonia, and spasticity. Patients present with recurrent infections associated with T-lymphocytopenia, characteristically presenting later than patients with classical severe combined immunodeficiency (SCID). PNP, with adenosine deaminase (ADA), is part of the purine salvage pathway. The only curative therapy is hematopoietic stem cell transplantation. Myeloablative conditioning is recommended to prevent rejection caused by residual immune function...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28650342/inflammatory-ly6chi-monocytes-and-their-conversion-to-m2-macrophages-drive-atherosclerosis-regression
#19
Karishma Rahman, Yuliya Vengrenyuk, Stephen A Ramsey, Noemi Rotllan Vila, Natasha M Girgis, Jianhua Liu, Viktoria Gusarova, Jesper Gromada, Ada Weinstock, Kathryn J Moore, P'ng Loke, Edward A Fisher
Atherosclerosis is a chronic inflammatory disease, and developing therapies to promote its regression is an important clinical goal. We previously established that atherosclerosis regression is characterized by an overall decrease in plaque macrophages and enrichment in markers of alternatively activated M2 macrophages. We have now investigated the origin and functional requirement for M2 macrophages in regression in normolipidemic mice that received transplants of atherosclerotic aortic segments. We compared plaque regression in WT normolipidemic recipients and those deficient in chemokine receptors necessary to recruit inflammatory Ly6Chi (Ccr2-/- or Cx3cr1-/-) or patrolling Ly6Clo (Ccr5-/-) monocytes...
August 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28600880/klotho-lacks-an-fgf23-independent-role-in-mineral-homeostasis
#20
Olena Andrukhova, Jessica Bayer, Christiane Schüler, Ute Zeitz, Sathish K Murali, Sibel Ada, Jose M Alvarez-Pez, Alina Smorodchenko, Reinhold G Erben
Fibroblast growth factor-23 (FGF23) is a bone-derived hormone regulating vitamin D hormone production and renal handling of minerals by signaling through an FGF receptor/αKlotho (Klotho) receptor complex. Whether Klotho has FGF23-independent effects on mineral homeostasis is a controversial issue. Here, we aimed to shed more light on this controversy by comparing male and female triple knockout mice with simultaneous deficiency in Fgf23 and Klotho and a nonfunctioning vitamin D receptor (VDR) (Fgf23/Klotho/VDR) with double (Fgf23/VDR, Klotho/VDR, and Fgf23/Klotho) and single Fgf23, Klotho, and VDR mutants...
October 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
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