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1دورية أكاديمية
المؤلفون: Dario Cocciadiferro, Tommaso Mazza, Davide Vecchio, Tommaso Biagini, Francesco Petrizzelli, Emanuele Agolini, Andrea Villani, Daniele Minervino, Diego Martinelli, Cristiano Rizzo, Sara Boenzi, Filippo Maria Panfili, Paola Sabrina Buonuomo, Marina Macchiaiolo, Andrea Bartuli, Antonio Novelli
المصدر: Frontiers in Genetics, Vol 14 (2024)
مصطلحات موضوعية: DHCR24, desmosterolosis, genotype–phenotype correlation, structural biology, medical genetics, bioinformatics, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
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3دورية أكاديمية
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4دورية أكاديمية
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5دورية أكاديمية
المؤلفون: Françoise Chevy, Françoise Illien, Claude Wolf, Charles Roux
المصدر: Journal of Lipid Research, Vol 43, Iss 8, Pp 1192-1200 (2002)
مصطلحات موضوعية: limb patterning, Sonic Hedgehog, osteogenesis, Indian Hedgehog, chondrodysplasia, desmosterolosis, Biochemistry, QD415-436
وصف الملف: electronic resource
Relation: http://www.sciencedirect.com/science/article/pii/S0022227520300511; https://doaj.org/toc/0022-2275
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المصدر: J Inherit Metab Dis
مصطلحات موضوعية: Male, Oxidoreductases Acting on CH-CH Group Donors, Nerve Tissue Proteins, Biology, Lipid Metabolism, Inborn Errors, Article, Mice, chemistry.chemical_compound, 7-Dehydrocholesterol, Dehydrocholesterols, Tandem Mass Spectrometry, Desmosterol, Genetics, medicine, Animals, Homeostasis, Abnormalities, Multiple, Genetics (clinical), Neurons, Cholesterol, Cell Membrane, Genetic disorder, Brain, medicine.disease, Sterol, Smith-Lemli-Opitz Syndrome, Desmosterolosis, Cell biology, Sterols, chemistry, Nuclear receptor, Mutation, Synaptic plasticity, Female, lipids (amino acids, peptides, and proteins)
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المؤلفون: Katalin Koczok, Channabasavaiah B. Gurumurthy, Zeljka Korade, Istvan Balogh, Karoly Mirnics
المصدر: Journal of Molecular Histology. 50:63-73
مصطلحات موضوعية: 0301 basic medicine, Genetically modified mouse, Oxidoreductases Acting on CH-CH Group Donors, congenital, hereditary, and neonatal diseases and abnormalities, Histology, Physiology, Intracellular Space, Mice, Transgenic, Nerve Tissue Proteins, Steroid Isomerases, Article, Lipid Metabolism, Inborn Errors, Mice, 03 medical and health sciences, chemistry.chemical_compound, Downregulation and upregulation, Desmosterol, medicine, Animals, Humans, Abnormalities, Multiple, Elméleti orvostudományok, Cells, Cultured, Cellular compartment, chemistry.chemical_classification, 030102 biochemistry & molecular biology, Cholesterol, Orvostudományok, Cell Biology, General Medicine, medicine.disease, Subcellular localization, Smith-Lemli-Opitz Syndrome, Desmosterolosis, Cell biology, Sterols, 030104 developmental biology, Enzyme, chemistry
وصف الملف: application/pdf
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المؤلفون: Roman Tyshynsky, Shailendra B. Patel, Sithara Raju Ponny, Kirthi Pulakanti, Babu Nageswararao Kanuri, Ranjuna Weerasekera, Kriya S. Patel, Vincent Fong
المصدر: Journal of Lipid Research
Journal of Lipid Research, Vol 62, Iss, Pp 100028-(2021)مصطلحات موضوعية: 0301 basic medicine, DHCR24, 030204 cardiovascular system & hematology, Biochemistry, FDFT1, farnesyl-diphosphate farnesyl transferase 1, chemistry.chemical_compound, LDLR, low density lipoprotein receptor, 0302 clinical medicine, Endocrinology, SREBF1/2, sterol regulatory element binding transcription factor 1/2, Desmosterol, Conditional gene knockout, CYP27A1, CEACAM1, carcinoembryonic antigen-related cell adhesion molecule 1, GEO, Gene Expression Omnibus, MTTP, microsomal triglyceride transfer protein, Sterol homeostasis, dysmorphology, CYP7A1, cytochrome P450 family 7 subfamily A member 1, FAS, fatty acid synthase, animal models, liver-X-receptor, desmosterol, HMGCR, 3-hydroxy-3-methylglutaryl-CoA reductase, NR1H2/3/4, nuclear receptor subfamily 1 group H member 2/3/4, Research Article, medicine.medical_specialty, LIPC, hepatic triacylglycerol lipase, CYP8B1, cytochrome P450 family 8 subfamily B member 1, bile, QD415-436, Biology, Cholesterol 7 alpha-hydroxylase, liver, CD36, cluster of differentiation 36, CYP27A1, cytochrome P450 family 27 subfamily A member 1, Lipid Metabolism, Inborn Errors, DHCR7, 3β-hydroxysterol-Δ7 reductase, 03 medical and health sciences, Internal medicine, DHCR24, 3β-hydroxysterol-Δ24 reductase, medicine, Abnormalities, Multiple, Liver X receptor, 7-DHC, 7-dehydrocholsterol, SCARB1, Scavenger receptor class B member 1, cholesterol, Cell Biology, medicine.disease, SCARB1, Desmosterolosis, lipoproteins, 030104 developmental biology, chemistry, gene expression, LXR, liver X receptor, PCSK9, proprotein convertase subtilisin/kexin type 9
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07891d6a4a13061ce051312bb0c74109
http://europepmc.org/articles/PMC7933790 -
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المؤلفون: Caitlin J. Smith, John M. Dagle, Kelli K. Ryckman
المصدر: Mammalian Sterols ISBN: 9783030396831
مصطلحات موضوعية: Genetics, Diabetes mellitus, medicine, Lathosterolosis, Single-nucleotide polymorphism, Disease, Genetic variability, CHILD syndrome, Biology, medicine.disease, Gene, Desmosterolosis
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d4bf2e29b36fbd289514b953e67da365
https://doi.org/10.1007/978-3-030-39684-8_2 -
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المؤلفون: Stephanie Sacharow, Mersedeh Rohanizadegan
المصدر: European Journal of Medical Genetics. 61:152-156
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Oxidoreductases Acting on CH-CH Group Donors, Candidate gene, Pathology, medicine.medical_specialty, Developmental Disabilities, Nerve Tissue Proteins, Consanguinity, Lipid Metabolism, Inborn Errors, Article, 03 medical and health sciences, chemistry.chemical_compound, Desmosterol, Genetics, Humans, Medicine, Abnormalities, Multiple, Agenesis of the corpus callosum, Genetics (clinical), Genetic testing, medicine.diagnostic_test, business.industry, Homozygote, Infant, General Medicine, Prognosis, medicine.disease, Pedigree, Desmosterolosis, 030104 developmental biology, chemistry, Mutation, Female, Differential diagnosis, business, Ventriculomegaly