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1دورية أكاديمية
المؤلفون: Atschekzei, FaranazAff1, IDs00393022011838_cor1, Schürmann, Gesine
المصدر: Zeitschrift für Rheumatologie. 81(4):328-331
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المؤلفون: Nandita Mitra, David J. Margolis, Ole Hoffstad, Bradley Wubbenhorst, Katherine L. Nathanson, Ronald Berna
المصدر: JID Innovations, Vol 1, Iss 4, Pp 100046-(2021)
JID Innovationsمصطلحات موضوعية: integumentary system, business.industry, Inflammatory skin disease, General Engineering, Atopic dermatitis, Dermatology, AD, atopic dermatitis, MAF, minor allele frequency, PoC, probability of clearance, medicine.disease, GAD, genetics of atopic dermatitis, Minor allele frequency, GEE, generalized estimating equation, RL1-803, Immunology, medicine, Original Article, LoF, loss of function, PEER, Pediatric Eczema Elective Registry, Allele, business, Gene, Loss function, Filaggrin
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المؤلفون: Sander Kersten
المصدر: Journal of Lipid Research
Journal of Lipid Research, Vol 62, Iss, Pp 100150-(2021)
Journal of Lipid Research, 62
Journal of Lipid Research 62 (2021)مصطلحات موضوعية: Loss-of-function mutants, Adipose tissue, Review, Biochemistry, Voeding, Metabolisme en Genomica, Endocrinology, ANGPTL4, ANGPTL3, Brown adipose tissue, triglycerides, Lipoprotein lipase, Chemistry, digestive, oral, and skin physiology, Pharmacological target, liver-specific inactivation, WAT, white adipose tissue, Lipids, Metabolism and Genomics, ANGPTL8, medicine.anatomical_structure, Metabolisme en Genomica, Nutrition, Metabolism and Genomics, lipids (amino acids, peptides, and proteins), hepatocytes, medicine.medical_specialty, lipoprotein lipase, QD415-436, pharmacological target, loss-of-function mutants, Voeding, Internal medicine, medicine, Angiopoietin-Like Protein 4, Animals, Humans, oxLDL, oxidized LDL, ANGPTL, angiopoietin-like protein, Triglycerides, Nutrition, VLAG, PCSK3, proprotein convertase subtilisin kexin-3, acLDL, acetylated LDL, Lipid metabolism, Cell Biology, Lipid Metabolism, BAT, brown adipose tissue, Liver-specific inactivation, Hepatocytes, HDL-C levels, Hepatic lipase, Chylomicron, LOF, loss of function
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c8bf5b265e36862fae9e3ee2bf88a5d
http://europepmc.org/articles/PMC8666355 -
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المؤلفون: Robert D. Brook, Whitney E. Hornsby, Melvyn Rubenfire, Richard L. Weinberg, Cristen J. Willer, Kristian Hveem, Lars G. Fritsche, Y. Eugene Chen, Linda Farhat, Ida Surakka
المصدر: JACC Case Reports
JACC: Case Reports, Vol 2, Iss 5, Pp 775-779 (2020)مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Apolipoprotein B, Apob gene, Low density lipoprotein cholesterol, Case Report, 030105 genetics & heredity, apolipoprotein B loss-of-function, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Clinical Case, Internal medicine, medicine, Diseases of the circulatory (Cardiovascular) system, FHBL, familial hypobetalipoproteinemia, Adverse effect, Lipoprotein cholesterol, low-density lipoprotein cholesterol, apoB, apolipoprotein B, biology, business.industry, hypobetalipoproteinemia, medicine.disease, Endocrinology, RC666-701, LoF, loss-of-function, biology.protein, lipids (amino acids, peptides, and proteins), LDL-C, low-density lipoprotein cholesterol, Hypobetalipoproteinemia, Cardiology and Cardiovascular Medicine, business, 030217 neurology & neurosurgery
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المؤلفون: Daniel Soffer, Zubair Shaikh, Jose Rivas, Siva Suryadevara, Theodore A. Bass, Andrea Rivas, Malhar Agarwal, Maryuri Briceno, Fabiana Rollini, Dominick J. Angiolillo, Naji Maailiki, Andres M. Pineda, Mustafa Wali, Latonya Been, Martin M. Zenni, Francesco Franchi, Ahmed Nawaz, Gabriel Silva
المصدر: JACC: Basic to Translational Science
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Prasugrel, HPR, high on-treatment platelet reactivity, medicine.medical_treatment, CLINICAL RESEARCH, CYP2C19, 030204 cardiovascular system & hematology, PRU, P2Y12 reaction unit, ticagrelor, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Genotype, pharmacodynamics, Medicine, Genetic testing, DAPT, dual antiplatelet therapy, PCI, percutaneous coronary intervention, medicine.diagnostic_test, business.industry, percutaneous coronary intervention, Percutaneous coronary intervention, prasugrel, CI, confidence interval, 030104 developmental biology, genotyping, Pharmacodynamics, Conventional PCI, Cardiology, CYP, cytochrome P450, ACS, acute coronary syndrome, Cardiology and Cardiovascular Medicine, business, Ticagrelor, PD, pharmacodynamic, medicine.drug, LOF, loss of function
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المؤلفون: Huilin Xie, Xin Shi, Ruilin Zhang, Tieliu Shi, Qihua Fu, Kai Bai, Kun Sun, Yanan Lu, Sun Chen, Yu Yu, Li Zhang
المصدر: Computational and Structural Biotechnology Journal
Computational and Structural Biotechnology Journal, Vol 18, Iss, Pp 381-392 (2020)مصطلحات موضوعية: Candidate gene, ACMG, American College of Medical Genetics, Gene mutation, Pulmonary atresia, Biochemistry, Pathogenesis, 0302 clinical medicine, ExAC, Exome Aggregation Consortium, GSEA, gene set enrichment analysis, Structural Biology, RT-qPCR, Reverse Transcription Quantitative PCR, Medicine, GEO, Gene Expression Omnibus, TOF, tetralogy of Fallot, gnomAD, Genome Aggregation Database, Exome sequencing, LOF, loss-of-function, Genetics, 0303 health sciences, Congenital heart defect, PA, Pulmonary atresia, SNP, single nucleotide polymorphism, CHD, congenital heart defect, HPAECs, Human Pulmonary Artery Endothelial Cells, Computer Science Applications, RV, right ventricle, Whole-exome sequencing, 030220 oncology & carcinogenesis, Gene mutations, WES, whole exome sequencing, Research Article, Biotechnology, FAT1, PA/IVS, Pulmonary atresia with intact ventricular septum, HNRNPC, lcsh:Biotechnology, PPI, protein–protein interactions, Biophysics, MAF, minor allele frequency, DNA sequencing, 03 medical and health sciences, lcsh:TP248.13-248.65, CTD, Conotruncal defect, ComputingMethodologies_COMPUTERGRAPHICS, 030304 developmental biology, business.industry, PA/VSD, Pulmonary atresia with ventricular septal defect, Rare variants, medicine.disease, STRING, Search Tool for the Retrieval of Interacting Genes, business, FDR, False discovery rates
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المؤلفون: Nabil G. Seidah
المصدر: Journal of Lipid Research
Journal of Lipid Research, Vol 62, Iss, Pp 100130-(2021)مصطلحات موضوعية: CHRD, Cys-His-rich domain, Apolipoprotein B, HEK293, human embryonic kidney 293, DENV, dengue virus, Familial hypercholesterolemia, 030204 cardiovascular system & hematology, S1P, site 1 protease, Biochemistry, 0302 clinical medicine, Endocrinology, Thematic Review Series: The Science of FH, Neoplasms, lipid metabolism, GOF, gain-of-function, cancer/metastasis, Receptor, 0303 health sciences, biology, LDLR, LDL receptor, SKI-1, subtilisin-kexin isozyme 1, 3. Good health, Virus Diseases, lipids (amino acids, peptides, and proteins), Proprotein Convertase 9, furin, Endosome, Hypercholesterolemia, QD415-436, FH, familial hypercholesterolemia, ER, endoplasmic reticulum, 03 medical and health sciences, cDNA, complementary DNA, lysosomes, Zymogen, medicine, MHC, major histocompatibility complex, Animals, Humans, mAb, monoclonal antibody, LDL-C, 030304 developmental biology, PCSK9, proprotein convertases, Thematic Review Series, PC, proprotein convertase, Cell Biology, Proprotein convertase, medicine.disease, LDLR, inflammation, LDL receptor, Cancer research, biology.protein, viral infection, PCSK9, proprotein convertase subtilisin/kexin type 9, LOF, loss of function, NARC-1, neural apoptosis-regulated convertase 1
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa9b1dcccbf273c1836a23142dd023f3
http://europepmc.org/articles/PMC8551645 -
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المؤلفون: Aaron J. Donner, Rosanne M. Crooke, Adam E. Mullick, Richard G. Lee, Mingxia Liu, Thomas A. Bell
المصدر: Journal of Lipid Research
Journal of Lipid Research, Vol 62, Iss, Pp 100101-(2021)مصطلحات موضوعية: Endothelial lipase, antisense oligonucleotide, EL, endothelial lipase, Biochemistry, chemistry.chemical_compound, Mice, Endocrinology, ANGPTL3, cardiovascular disease, RCT, reverse cholesterol transport, Hyperlipidemia, hyperlipidemia, LOF, loss-of-function, chemistry.chemical_classification, Mice, Knockout, WD, Western diet, Reverse cholesterol transport, tg, transgenic, lipids (amino acids, peptides, and proteins), ASCVD, atherosclerotic cardiovascular disease, coronary artery disease, Research Article, medicine.medical_specialty, HDL, Transgene, ASO, antisense oligonucleotide, QD415-436, ANGPTL3, angiopoietin-like protein 3, TPC, total plasma cholesterol, lipids, Internal medicine, medicine, Animals, Humans, Loss function, Angiopoietin-Like Protein 3, LSC, liquid scintillation counting, 3H-CHE, 3H-cholesteryl hexadecyl ether, FCR, fractional catabolic rate, Cholesterol, Cholesterol, HDL, cholesterol, Biological Transport, Cell Biology, FHBL2, familial combined hypobetalipoproteinemia, Oligonucleotides, Antisense, medicine.disease, reverse cholesterol transport, Mice, Inbred C57BL, Enzyme, chemistry, atherosclerosis
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a3dd6baedbaa871b44ae87791eadae9
http://europepmc.org/articles/PMC8417398 -
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المصدر: Translational Research
مصطلحات موضوعية: pDC, Plasmacytoid dendritic cell, Review Article, Disease, Extracellular Traps, Health Services Accessibility, immune system diseases, Epidemiology, Pandemic, HCQ, Hydroxychloroquine, Lupus Erythematosus, Systemic, Th17, T helper 17, IL, Interleukin, skin and connective tissue diseases, sGC, Systemic glucocorticoids, AZA, Azathioprine, COVID-19, Coronavirus disease 2019, EBV, Epstein-Barr virus, education.field_of_study, LOF, Loss-of-function, TOR Serine-Threonine Kinases, TRAF, Tumor necrosis factor receptor-associated factor, General Medicine, Treg, Regulatory T cell, ISG, Interferon-stimulated gene, IFN, Interferon, ICU, Intensive care unit, Interferon Type I, Antibodies, Antiphospholipid, MASP-2, Manna-binding lectin associated serine protease-2, JAK, Janus kinase, MMF, Mycophenolate mofetil, NYC, New York City, TRIF, TIRdomain-containing adapter-inducing interferon-β, TLR, Toll-like receptor, medicine.drug, medicine.medical_specialty, SDH, Social determinants of health, Population, CYC, Cyclophosphamide, PI3K, Phosphatidylinositol 3-kinase, Immune system, STAT, Signal Transducer and Activator of Transcription, ACE2, Angiotensin-converting enzyme 2, Physiology (medical), medicine, Humans, NAC, N-Acetylcisteine, education, IFNAR, Interferon-α/β receptor, Autoimmune disease, Biochemistry, medical, SARS-CoV-2, Severe acute respiratory syndrome coronavirus 2, Lupus erythematosus, SARS-CoV-2, business.industry, SLE, Systemic Lupus Erythematosus, Biochemistry (medical), TNF, Tumor necrosis factor, Public Health, Environmental and Occupational Health, COVID-19, mTOR, Mechanistic (mammalian) target of rapamycin, RT-PCR, Reverse transcription polymerase chain reaction, Complement System Proteins, medicine.disease, C5aR1, C5a receptor, NET, Neutrophil extracellular trap, MyD88, Myeloid differentiation primary response 88, Act-1, Adaptor protein NF-κ activator, TBK1, TANK-binding kinase 1, Immunology, IRF, Interferon regulatory factor, business, C-19-GRA, COVID-19 Global Rheumatology Alliance, Interferon type I, pS6, Ribosomal protein 6
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المؤلفون: Dexin Sui, Chi Zhang, Eziz Kuliyev, Jian Hu
المصدر: The Journal of Biological Chemistry
مصطلحات موضوعية: 0301 basic medicine, acrodermatitis enteropathica, HRD, helix-rich domain, TMD, transmembrane domain, NBD1, nucleotide binding domain 1, Biochemistry, chemistry.chemical_compound, Loss of Function Mutation, Missense mutation, Cation Transport Proteins, CD, circular dichroism, LOF, loss-of-function, ZIP4, Chemistry, ZIP, Zrt-/Irt-like protein, Acrodermatitis enteropathica, extracellular domain, AE, acrodermatitis enteropathica, Transmembrane protein, Transmembrane domain, Zinc, PCC, Pearson's correlation coefficient, SNP, single-nucleotide polymorphism, Intracellular, Research Article, Glycosylation, zinc transporter, CLSM, confocal laser scanning microscope, SCD-EDS, spondylocheirodysplastic form of Ehlers–Danlos syndrome, DMEM, Dulbecco’s modified eagle medium, 03 medical and health sciences, FBS, fetal bovine serum, medicine, Extracellular, Humans, CFTR, cystic fibrosis transmembrane conductance regulator, Amino Acid Sequence, Molecular Biology, disease-causing mutation, CF, cystic fibrosis, 030102 biochemistry & molecular biology, HEK 293 cells, Acrodermatitis, Cell Membrane, Cell Biology, medicine.disease, misfolding, Molecular biology, ECD, extracellular domain, 030104 developmental biology, HEK293 Cells, mistrafficking, Carrier Proteins
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9752bfec78f5f3cb278343c8e32ba0d0
http://europepmc.org/articles/PMC7949036
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