المؤلفون: Yazıcı, H., Çopur, O., Canbay, E., Durmaz, B., Canda, E., Ucar, S.K., Coker, M.

مصطلحات موضوعية: Mucopolysaccharidosis, Inflammation, Paraoxonase, aryldialkylphosphatase, catalase, chitotriosidase, cytokine, dermatan sulfate, gamma interferon, glutathione peroxidase, glycosaminoglycan, immunoglobulin enhancer binding protein, interleukin 1alpha, interleukin 1beta, interleukin 6, superoxide dismutase, adolescent, adult, antioxidant activity, Article, child, clinical article, controlled study, enzyme deficiency, enzyme replacement, erythrocyte, female, heart disease, human, Hunter syndrome

العلاقة: Cytokine; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11454/92746Test; https://doi.org/10.1016/j.cyto.2023.156410Test; 173

الإتاحة: https://doi.org/10.1016/j.cyto.2023.156410Test
https://hdl.handle.net/11454/92746Test

المؤلفون: Nitschke, S., Sullivan, M. A., Mitra, S., Marchioni, C. R., Lee, J. P. Y., Smith, B. H., Ahonen, S., Wu, J., Chown, E. E., Wang, P., Petković, S., Zhao, X., Digiovanni, L. F., Perri, A. M., Israelian, L., Grossman, T. R., Kordasiewicz, H., Vilaplana, Francisco, 1979, Iwai, K., Nitschke, F., Minassian, B. A.

المصدر: Brain. 145(7):2361-2377

مصطلحات موضوعية: antisense oligonucleotide (ASO) therapy, glycogen synthase, neuroinflammation, PGBM1 (polyglucosan body myopathy 1), RBCK1/HOIL1, 4 alpha glucan branching enzyme, amylopectin, glucan, glycogen, hydroxyl group, phosphatase, ubiquitin, ubiquitin protein ligase E3, non receptor protein tyrosine phosphatase, ubiquitin protein ligase, animal experiment, animal model, Article, cardiac muscle, controlled study, down regulation, enzyme deficiency, female, gait, glycogen muscle level, glycogen storage disease type 4, grip strength, histology, male, motor neuron disease, mouse, myoclonus epilepsy, nervous system inflammation, nonhuman, nonsense mediated mRNA decay, open field test, physical chemistry, protein depletion, rotarod test, spinal cord, animal, genetics, glycogen storage disease, mammal, metabolism, neurologic disease, pathology, Animals, Down-Regulation, Glucans, Glycogen Storage Disease Type IV, Lafora Disease, Mammals, Mice, Myoclonic Epilepsies, Progressive, Nervous System Diseases, Protein Tyrosine Phosphatases, Non-Receptor, Ubiquitin-Protein Ligases

وصف الملف: print

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-321865Test

المؤلفون: Episkopou, H., Benyelles, M., O'Donohue, M.-F., Kermasson, L., Frange, P., Poulain, F., Burcu Belen, F.

مصطلحات موضوعية: p53, Høyeraal–Hreidarsson syndrome, PARN, rRNA, shelterin, messenger RNA, polynucleotide adenylyltransferase, protein p53, ribosome RNA, exoribonuclease, poly(A)-specific ribonuclease, animal experiment, Article, biogenesis, child, chromosomal parameters, clinical article, controlled study, down regulation, enzyme deficiency, female, fibroblast, gene, gene expression, gene knockout, gene mutation, genetic stability, genetic transcription, human, human cell

العلاقة: Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11499/30141Test; https://doi.org/10.15252/emmm.201810201Test; 11; 2-s2.0-85067393765; WOS:000474265000003

الإتاحة: https://doi.org/10.15252/emmm.201810201Test
https://hdl.handle.net/11499/30141Test

المؤلفون: Chatzis M.K., Kasabalis D., Steiner J.M., Saridomichelakis M.N., Suchodolski J.S., Xenoulis P.G.

المصدر: Comparative Immunology, Microbiology and Infectious Diseases ; https://www.scopus.com/inward/record.uri?eid=2-s2.0-85109018592&doi=10.1016%2fj.cimid.2021.101686&partnerID=40&md5=31980a195c64ae42b9499c91d0d78043Test

مصطلحات موضوعية: allopurinol, cobalamin, meglumine antimonate, cyanocobalamin, animal experiment, animal lameness, animal model, Article, aspiration cytology, bioassay, blepharitis, blood level, blood sampling, chemoluminescence, clinical trial, conjunctivitis, controlled study, creatinine blood level, dermatitis, dog, enzyme deficiency, eye injury, female, follow up, hepatomegaly, hyperkeratosis, hypocobalaminemia, immunofluorescence, keratoconjunctivitis sicca, kidney function

العلاقة: http://hdl.handle.net/11615/72703Test

الإتاحة: https://doi.org/10.1016/j.cimid.2021.101686Test
http://hdl.handle.net/11615/72703Test

المؤلفون: Benyelles, Maname, Episkopou, Charikleia, O’Donohue, Marie-Françoise, Kermasson, Laëtitia, Frange, Pierre, Poulain, Florian, Burcu Belen, Fatma, Polat, Meltem, Bole-Feysot, Christine, Langa-Vives, Francina, Gleizes, Pierre-Emmanuel, de Villartay, Jean-Pierre, Callebaut, Isabelle, Decottignies, Anabelle, Revy, Patrick

المساهمون: UCL - SSS/DDUV/GEPI - Epigénétique

المصدر: EMBO Molecular Medicine, Vol. June 6, no.June 6, p. e10201 (2019)

مصطلحات موضوعية: p53, Male, protein p53, TPP1 gene, Høyeraal–Hreidarsson syndrome, dyskeratosis congenita, preschool child, fibroblast, TRF1 gene, Mice, genetic stability, telomere length, animal, genetics, gene mutation, microcephaly, rRNA, telomere homeostasis, POT1 gene, poly(A)-specific ribonuclease, TRF2 gene, Mice, Knockout, child, clinical article, telomere, Fetal Growth Retardation, messenger RNA, intrauterine growth retardation, PARN gene, female, priority journal, Child, Preschool, ribosome RNA, enzyme deficiency, down regulation, shelterin, PARN, animal experiment, Article, gene knockout, exoribonuclease, Intellectual Disability, Animals, Humans, controlled study, human, gene, chromosomal parameters, mouse, nonhuman, polynucleotide adenylyltransferase, human cell, disease model, intellectual impairment, genetic transcription, biogenesis, school child, infant, Disease Models, Animal, Dyskeratosis Congenita/genetics/*metabolism/pathology, Exoribonucleases/*deficiency/metabolism, Female, Fetal Growth Retardation/genetics/*metabolism/pathology, Intellectual Disability/genetics/*metabolism/pathology, Microcephaly/genetics/*metabolism/pathology, RNA, Ribosomal/*biosynthesis/genetics, Telomere/genetics/*metabolism/pathology, Telomere Homeostasis, RAP1 gene, RNA, Ribosomal, Exoribonucleases, gene expression, pathology, biosynthesis, knockout mouse, metabolism

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6f04c86ff4d4d7c750ff26070179577aTest

المؤلفون: Iván D. Vélez, Wuelton Marcelo Monteiro, Lindsay Kendall, Siôn W. Jones, Victoria M Rousell, Raul Chuquiyauri, Chayadol S Namaik-Larp, Justin A. Green, Marcus V. G. Lacerda, Graham Craig, Marcelo A M Brito, François Nosten, Gavin C. K. W. Koh, Fernando Val, Cindy S. Chu, Elizabeth Hardaker, Ratchadaporn Papwijitsil, Tran Tinh Hien, Sandra Aruachan, Donna D Clover, Martin Casapia, Alejandro Llanos-Cuentas, Germana Bancone, Brian Angus, Viviana M Wilches, Maria F Villegas, Chau H Nguyen, John J Breton, Stephan Duparc, Monica R. F. Costa, Khadeeja Mohamed

المصدر: The New England Journal of Medicine

مصطلحات موضوعية: Male, double blind procedure, Kaplan Meier method, insomnia, Plasmodium vivax, diarrhea, Parasitemia, Primaquine, tafenoquine, aminoquinoline derivative, chloroquine, 0302 clinical medicine, Secondary Prevention, Prospective Studies, disease free survival, comparative study, upper abdominal pain, adult, clinical trial, General Medicine, nausea, backache, priority journal, disease severity, Drug Therapy, Combination, prospective study, complication, QT prolongation, Relapse prevention, Article, Disease-Free Survival, 03 medical and health sciences, Antimalarials, blurred vision, Humans, human, procedures, glucose 6 phosphate dehydrogenase deficiency, treatment duration, hemoglobin, medicine.disease, major clinical study, drug efficacy, multicenter study, chemistry, Immunology, randomized controlled trial, asthenia, urinary tract infection, Malaria, methemoglobinemia, vomiting, drug safety, Tafenoquine, recurrent disease, Kaplan-Meier Estimate, 030204 cardiovascular system & hematology, chemistry.chemical_compound, Hemoglobins, Chloroquine, Recurrence, creatine kinase blood level, 030212 general & internal medicine, Antimalarial Agent, fever, glucose 6 phosphate dehydrogenase, biology, Plasmodium vivax malaria, rhinopharyngitis, single drug dose, enzyme activity, G6PD protein, human, female, Aminoquinolines, Original Article, enzyme deficiency, headache, medicine.drug, combination drug therapy, Adolescent, side effect, alanine aminotransferase, Glucosephosphate Dehydrogenase, Double-Blind Method, parasitic diseases, medicine, hypokalemia, Malaria, Vivax, pneumonia, controlled study, coughing, dizziness, hemoglobin blood level, phase 3 clinical trial, business.industry, antimalarial agent, creatine kinase, isolation and purification, pharyngitis, pruritus, biology.organism_classification, purl.org/pe-repo/ocde/ford#3.02.00 [https], Glucosephosphate Dehydrogenase Deficiency, business, metabolism, alanine aminotransferase blood level

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1301e8e7c12abf617a49c556a3c81afcTest
https://hdl.handle.net/20.500.12866/6917Test

المؤلفون: Chambliss, KL, Hinson, DD, Trettel, F, Jakobs, C, Gibson, KM, MALASPINA, PATRIZIA, NOVELLETTO, ANDREA

المساهمون: Chambliss, K, Hinson, D, Trettel, F, Malaspina, P, Novelletto, A, Jakobs, C, Gibson, K

مصطلحات موضوعية: 4 aminobutyric acid, 4 hydroxybutyric acid, succinate semialdehyde dehydrogenase, 4 aminobutyric acid metabolism, aciduria, article, autosomal recessive inheritance, controlled study, enzyme deficiency, exon, female, gene deletion, gene sequence, human, human cell, major clinical study, male, nucleotide sequence, point mutation, priority journal, RNA splicing, transcription termination, Aldehyde Oxidoreductase, Amino Acid Sequence, Base Sequence, Cells, Cultured, Consanguinity, Heterozygote Detection, Hydroxybutyrate

العلاقة: volume:63; issue:2; firstpage:399; lastpage:408; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2108/44419Test

الإتاحة: https://doi.org/10.1086/301964Test
http://hdl.handle.net/2108/44419Test

المؤلفون: Simon, A., Bijzet, J., Voorbij, H.A.M., Mantovani, A., Van Der Meer, J.W.M., Drenth, J.P.H.

المصدر: Simon , A , Bijzet , J , Voorbij , H A M , Mantovani , A , Van Der Meer , J W M & Drenth , J P H 2004 , ' Effect of inflammatory attacks in the classical type hyper-IgD syndrome on immunoglobulin D, cholesterol and parameters of the acute phase response ' , Journal of Internal Medicine , vol. 256 , no. 3 , pp. 247-253 . https://doi.org/10.1111/j.1365-2796.2004.01359.xTest

مصطلحات موضوعية: Acute phase response, Ferritin, Hyper-IgD syndrome, Immunoglobulin D, Pentraxin-3, Procalcitonin, C reactive protein, cholesterol, mevalonate kinase, pentraxin, phosphotransferase, unclassified drug, adolescent, adult, article, blood analysis, clinical article, controlled study, enzyme deficiency, female, fever, human, hypergammaglobulinemia, hyperimmunoglobulinemia D and periodic fever syndrome, inflammation, male, mevalonate kinase deficiency, priority journal, protein determination, sampling

العلاقة: https://research.rug.nl/en/publications/9e272bbc-a77c-4a01-b874-534871c6f779Test

الإتاحة: https://doi.org/10.1111/j.1365-2796.2004.01359.xTest
https://hdl.handle.net/11370/9e272bbc-a77c-4a01-b874-534871c6f779Test
https://research.rug.nl/en/publications/9e272bbc-a77c-4a01-b874-534871c6f779Test

مصطلحات موضوعية: Male, Biomedical Research, Unclassified drug, Physiology, Cholesterol 7alpha monooxygenase, Messenger, Apolipoprotein E3, Cholesterol ester, Srebf1 gene, Ketone Bodies, Gene, Animal tissue, Feces, Mice, Hyperlipoproteinemia Type III, Cholesterol 7α-hydroxylase, Bile acid synthesis, Vitamin E, Cholesterol 7-alpha-Hydroxylase, Vitamin A, Dgat1 protein, Feces level, Retinol, Messenger RNA, Atherogenic, Cytochrome P450 isoenzyme, Lipid diet, Triacylglycerol blood level, Sterols, Cholesterol, Cholesterol blood level, Hyperlipidemia, Blood, Bile acid biosynthesis, Very low density lipoprotein, Liver, Apolipoprotein E3 (Leidein), lipids (amino acids, peptides, and proteins), Atherogenic diet, Female, Cholesterol Esters, VLDL, Acyltransferase, Lipolysis, Lipoproteins, Knockout, Sterol regulatory element binding protein 1, Bile acid, Crosses, Biosynthesis, Vitamin, Catalysis, Diacylglycerol acyltransferase, Bile Acids and Salts, Knockout mouse, Apolipoproteins E, Antioxidant activity, Genetic, Genetics, Cholesterol metabolism, Animals, Animal model, Animal experiment, Diacylglycerol O-Acyltransferase, Biology, Enzyme deficiency, mouse, Triglycerides, SREBP-1, Sterol, Apolipoproteins B, Cross breeding, Mouse mutant, Lipogenesis, Alpha tocopherol, Lipoprotein synthesis, Nonhuman, Lipid Metabolism, Diet, Metabolism, RNA, Gene expression, Controlled study, Acyltransferases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dris___00893::e3c199dcb96de6b5639af7c92dc8a450Test
http://resolver.tudelft.nl/uuid:8ee08125-6e90-4b58-95dc-68aff9f596e0Test

المؤلفون: Patrick C.N. Rensen, Hans M.G. Princen, S.M. Post, Martine Groenendijk, Karianne Solaas

المساهمون: TNO Preventie en Gezondheid

المصدر: Arteriosclerosis, Thrombosis, and Vascular Biology, 4, 24, 768-774

مصطلحات موضوعية: Apolipoprotein E, Male, Very low-density lipoprotein, Biomedical Research, Unclassified drug, Physiology, Cholesterol 7alpha monooxygenase, Apolipoprotein E3, Cholesterol ester, Srebf1 gene, Ketone Bodies, Lipoproteins, VLDL, Gene, Animal tissue, chemistry.chemical_compound, Feces, Mice, Hyperlipoproteinemia Type III, Cholesterol 7α-hydroxylase, Bile acid synthesis, Vitamin E, Cholesterol 7-alpha-Hydroxylase, Vitamin A, Mice, Knockout, Feces level, Bile acid, Retinol, Messenger RNA, Cytochrome P450 isoenzyme, Lipid diet, Triacylglycerol blood level, Sterols, Cholesterol, Cholesterol blood level, Hyperlipidemia, Blood, Bile acid biosynthesis, Very low density lipoprotein, Liver, Apolipoprotein E3 (Leidein), Lipogenesis, Cholesteryl ester, lipids (amino acids, peptides, and proteins), Atherogenic diet, Female, Cholesterol Esters, Cardiology and Cardiovascular Medicine, medicine.medical_specialty, medicine.drug_class, Acyltransferase, Lipolysis, Sterol regulatory element binding protein 1, Dgat1 protein, mouse, Biology, Cholesterol 7 alpha-hydroxylase, Biosynthesis, Vitamin, Catalysis, Diacylglycerol acyltransferase, Bile Acids and Salts, Knockout mouse, Apolipoproteins E, Antioxidant activity, Internal medicine, medicine, Genetics, Cholesterol metabolism, Animals, Animal model, Animal experiment, Diacylglycerol O-Acyltransferase, RNA, Messenger, Enzyme deficiency, Crosses, Genetic, Triglycerides, SREBP-1, Sterol, Apolipoproteins B, Cross breeding, Mouse mutant, Alpha tocopherol, Lipoprotein synthesis, Nonhuman, Lipid Metabolism, Endocrinology, Metabolism, chemistry, Diet, Atherogenic, Gene expression, Controlled study, Acyltransferases, Lipoprotein

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbf6efd8e834969edb36dd044d3ab261Test
http://resolver.tudelft.nl/uuid:8ee08125-6e90-4b58-95dc-68aff9f596e0Test