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المؤلفون: Frank H. Laukien
المصدر: Progress in Biophysics and Molecular Biology. 165:43-48
مصطلحات موضوعية: Biophysics, Cancer, Biology, medicine.disease_cause, medicine.disease, Adaptation, Physiological, Biological Evolution, Evolution, Molecular, Germline mutation, Evolutionary biology, Molecular evolution, Neoplasms, Mutation, Viruses, Cancer cell, Tumor Microenvironment, medicine, Humans, Epigenetics, Carcinogenesis, Molecular Biology, Lipid glycosylation, Natural genetic engineering
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المؤلفون: Sophie Groux, Sumeyye Cavdarli, François Foulquier, Philippe Delannoy
المصدر: médecine/sciences. 37:609-617
مصطلحات موضوعية: 0303 health sciences, Glycosylation, Cellular metabolism, biology, Endoplasmic reticulum, Transporter, General Medicine, Golgi apparatus, Abnormal protein, General Biochemistry, Genetics and Molecular Biology, 3. Good health, Cell biology, 03 medical and health sciences, chemistry.chemical_compound, symbols.namesake, 0302 clinical medicine, chemistry, 030220 oncology & carcinogenesis, Glycosyltransferase, biology.protein, symbols, Lipid glycosylation, 030304 developmental biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::43396b2212db43c2aa42f4b25fdb7e3f
https://doi.org/10.1051/medsci/2021082 -
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المؤلفون: Bo Xiao, Xiao Mao, Hongyu Long, Jiaoe Gong, Wenbiao Xiao, Shanyu Pi
المصدر: Journal of human genetics. 67(2)
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Glycosylation, Developmental Disabilities, chemistry.chemical_compound, Consanguinity, Congenital Disorders of Glycosylation, Lactose Intolerance, Genetics, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Strabismus, Genetics (clinical), Family Health, Lactose intolerance, Base Sequence, business.industry, High myopia, Membrane Proteins, Sequence Analysis, DNA, medicine.disease, Situs Inversus, Hypotonia, Pedigree, Situs inversus, chemistry, Hexosyltransferases, Child, Preschool, Failure to thrive, Mutation, medicine.symptom, business, Lipid glycosylation
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المؤلفون: Kanae Sasaki, Hiderou Yoshida
المصدر: FEBS Letters. 593:2330-2340
مصطلحات موضوعية: Glycosylation, Biophysics, Golgi Apparatus, Protein degradation, Biochemistry, 03 medical and health sciences, symbols.namesake, chemistry.chemical_compound, Structural Biology, Organelle, Genetics, Animals, Humans, Molecular Biology, 030304 developmental biology, 0303 health sciences, biology, Chemistry, 030302 biochemistry & molecular biology, Mucin, Cell Biology, Golgi apparatus, Endoplasmic Reticulum Stress, Cell biology, carbohydrates (lipids), Vesicular transport protein, Proteoglycan, symbols, biology.protein, Lipid glycosylation
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المؤلفون: Eline Blommaert, Jaak Jaeken, Natalia A. Cherepanova, François Foulquier, Daisy Rymen, Reid Gilmore, Rebecca Sparkes, Romain Péanne, Anniek Corveleyn, Gert Matthijs, Valerie Race, Kaustuv Bhattacharya, Rik Schrijvers, Erika Souche, Christine Devalck, Frederik Staels, Liesbeth Keldermans
المساهمون: Molecular Diagnostics, Center for Human Genetics, Gasthuisberg, Katholieke Universiteit Leuven and Flanders Interuniversity Institute for Biotechnology 4, Leuven, Belgium, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Center for Human Genetics, Laboratory of clinical immunology, Unité de Glycobiologie Structurale et Fonctionnelle UMR 8576 (UGSF), Université de Lille-Institut National de la Recherche Agronomique (INRA)-Centre National de la Recherche Scientifique (CNRS), Université de Lille, CNRS, Unité de Glycobiologie Structurale et Fonctionnelle UMR 8576 [UGSF], Université de Lille-Centre National de la Recherche Scientifique (CNRS), Unité de Glycobiologie Structurale et Fonctionnelle - UMR 8576 (UGSF), Université de Lille-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Recherche Agronomique (INRA)
المصدر: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2019, pp.201817815. ⟨10.1073/pnas.1817815116⟩
Proceedings of the National Academy of Sciences of the United States of America, 116 (20
Proceedings of the National Academy of Sciences of the United States of America, 2019, pp.201817815. ⟨10.1073/pnas.1817815116⟩مصطلحات موضوعية: Male, Glycosylation, Adolescent, [SDV]Life Sciences [q-bio], Protein subunit, DNA Mutational Analysis, congenital disorders of glycosylation, CDG, XMEN, oligosaccharyltransferase complex, Biology, MAGT1 Deficiency, 03 medical and health sciences, chemistry.chemical_compound, Congenital Disorders of Glycosylation, 0302 clinical medicine, medicine, Humans, Congenital disorders of glycosylation, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], Child, Cation Transport Proteins, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, Genetics, 0303 health sciences, Multidisciplinary, Tumor Suppressor Proteins, Oligosaccharyltransferase, Membrane Proteins, Généralités, Biological Sciences, medicine.disease, Phenotype, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biomolecules [q-bio.BM], 3. Good health, carbohydrates (lipids), Hexosyltransferases, Oligosaccharyltransferase complex, chemistry, 030220 oncology & carcinogenesis, Primary immunodeficiency, Lipid glycosylation
وصف الملف: 1 full-text file(s): application/pdf; application/octet-stream; Print-Electronic
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d010e41095bb3180163e1efdb9e3d954
https://doi.org/10.1073/pnas.1817815116 -
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المؤلفون: Dirk Daelemans, Gediminas Drabavicius
المصدر: PLoS genetics, San Francisco : Public Library Science, 2021, vol. 17, iss. 2, e1009387, p. [1-21]
PLoS Genetics, Vol 17, Iss 2, p e1009387 (2021)
PLoS Geneticsمصطلحات موضوعية: Genetic Screens, Cancer Research, Cell Membranes, Cell, Gene Identification and Analysis, Immune receptor, QH426-470, Toxicology, Pathology and Laboratory Medicine, Synthetic Genome Editing, Biochemistry, Genome Engineering, 0302 clinical medicine, Bacteriocins, Medicine and Health Sciences, Toxins, Genetics (clinical), 0303 health sciences, Pore-forming toxin, Cytotoxins, Sulfates, Crispr, Drugs, Lipids, Cell biology, Chemistry, Cholesterol, medicine.anatomical_structure, Intermedilysin, cholesterol-dependent cytolysins, pore-forming toxins, Physical Sciences, Engineering and Technology, Synthetic Biology, Cellular Structures and Organelles, Porosity, Lipid glycosylation, Research Article, Toxic Agents, CD59 Antigens, Bioengineering, CD59, Biology, 03 medical and health sciences, Bacterial Proteins, Cell Line, Tumor, medicine, Genetics, Humans, Molecular Biology, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, Pharmacology, Health Care Policy, Pneumolysin, Heparin, Cell Membrane, Chemical Compounds, Biology and Life Sciences, Biological membrane, Cell Biology, Synthetic Genomics, Health Care, Cytolysis, HEK293 Cells, Salts, Heparitin Sulfate, CRISPR-Cas Systems, Screening Guidelines, 030217 neurology & neurosurgery
وصف الملف: application/pdf; Electronic-eCollection
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المؤلفون: Chia Hsien Chuang, Yang-hsin Shih, Shu Hwa Chen, Chi Fang Ko, Chung Yen Lin, Pei Hsin Chou, Chi-Te Liu, Tzu-Ho Chou, Yi Jie Li, Reuben Wang
المصدر: Chemical Engineering Journal. 425:130489
مصطلحات موضوعية: Hexabromocyclododecane, biology, Chemistry, General Chemical Engineering, ATP-binding cassette transporter, 02 engineering and technology, General Chemistry, 010402 general chemistry, 021001 nanoscience & nanotechnology, biology.organism_classification, 01 natural sciences, Industrial and Manufacturing Engineering, 0104 chemical sciences, Transcriptome, chemistry.chemical_compound, Metabolic pathway, Biochemistry, Transcriptional regulation, Environmental Chemistry, KEGG, Rhodopseudomonas palustris, 0210 nano-technology, Lipid glycosylation
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المؤلفون: Tomas Honzik, Hana Hansikova, Nina Ondruskova, Jaak Jaeken, Anna Cechova
المصدر: Biochimica et biophysica acta. General subjects. 1865(1)
مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Glycosylation, Biophysics, Disease, Bioinformatics, Biochemistry, Novel gene, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Congenital Disorders of Glycosylation, Medicine, Animals, Humans, Molecular Biology, Cellular metabolism, business.industry, Disease mechanisms, Proteins, Lipid Metabolism, Lipids, 030104 developmental biology, chemistry, Mutation, business, Lipid glycosylation, 030217 neurology & neurosurgery, Metabolic Networks and Pathways
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المؤلفون: Elena Gardella, Damir Musaev, Cecilia Vitali, Emanuele Agolini, Sumeet A. Khetarpal, Kimiyo Raymond, Daniel J. Rader, Camilla Gøbel Madsen, Valentina Stanley, Antonio Novelli, Andrew C. Edmondson, W. Timothy O'Brien, Heiko Reutter, John Hintze, Kristen Liedtke, Mahmoud Y. Issa, Lars Hansen, Christina Fenger, Kevin Rostasy, Rami Abou Jamra, Maha S. Zaki, Francesca Romana Lepri, Ulla E. Petäjä-Repo, Joseph G. Gleeson, Rikke S. Møller, Silvana Briuglia, Katrine T. Schjoldager, Lorenzo Sinibaldi, Viola Alesi, Guido Rubboli, Raffaella Cusmai, Monica Zilmer
المصدر: Brain
Zilmer, M, Edmondson, A C, Khetarpal, S A, Alesi, V, Zaki, M S, Rostasy, K, Madsen, C G, Lepri, F R, Sinibaldi, L, Cusmai, R, Novelli, A, Issa, M Y, Fenger, C D, Jamra, R A, Reutter, H, Briuglia, S, Agolini, E, Hansen, L, Petäjä-Repo, U E, Hintze, J, Raymond, K M, Liedtke, K, Stanley, V, Musaev, D, Gleeson, J G, Vitali, C, O’Brien, W T, Gardella, E, Rubboli, G, Rader, D J, Schjoldager, K T & Møller, R S 2020, ' Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function ', Brain, vol. 143, no. 4, pp. 1114-1126 . https://doi.org/10.1093/brain/awaa063مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Glycosylation, Adolescent, Congenital disorders of glycosylation, O-glycosylation, GALNT2, Apolipoprotein C-III glycosylation, HDL-cholesterol, Developmental Disabilities, Biology, 03 medical and health sciences, chemistry.chemical_compound, Mice, Young Adult, 0302 clinical medicine, Loss of Function Mutation, Internal medicine, medicine, Animals, Humans, Congenital disorders of glycosylation, Global developmental delay, Child, O-glycosylation, Apolipoprotein C-III, Original Articles, medicine.disease, HDL-cholesterol, Pedigree, Rats, Developmental disorder, 030104 developmental biology, Endocrinology, chemistry, GALNT2, Child, Preschool, O-linked glycosylation, Apolipoprotein C-III glycosylation, N-Acetylgalactosaminyltransferases, Apolipoprotein C3, lipids (amino acids, peptides, and proteins), Female, Neurology (clinical), Congenital disorder of glycosylation, Lipid glycosylation, 030217 neurology & neurosurgery, Congenital disorder
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92a69c26d8205f2d4c42003940e13c92
https://europepmc.org/articles/PMC7534148/ -
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المؤلفون: Fatima Saif, Mahmoud Taleb Al-Ali, Sami Bizzari, Ethar Mustafa Malik, Pratibha Nair, Madiha Mohamed, Fatma Bastaki, Sana Hamici, Abdul Rezzak Hamzeh
المصدر: Annals of Human Genetics. 82:35-47
مصطلحات موضوعية: Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Glycosylation, DNA Mutational Analysis, Nonsense mutation, Mutation, Missense, United Arab Emirates, 030105 genetics & heredity, Biology, 03 medical and health sciences, symbols.namesake, chemistry.chemical_compound, Congenital Disorders of Glycosylation, Genetics, medicine, Humans, Missense mutation, Child, Genetics (clinical), Sanger sequencing, Genetic heterogeneity, High-Throughput Nucleotide Sequencing, Infant, medicine.disease, Arabs, chemistry, Codon, Nonsense, symbols, Female, Lipid glycosylation, Congenital disorder of glycosylation
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