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المؤلفون: Céline Bürer, Viktor Kozich, D. Sean Froese, Jochen Weile, Song Sun, Marinella Gebbia, Nishka Kishore, Robert L. Nussbaum, Iosifina Fotiadou, David Watkins, Alexander Holenstein, Ranim Maaieh, Roujia Li, Michael Garton, Rima Rozen, Linnea Blomgren, Shan Yang, Frederick P. Roth, Yingzhou Wu, Marta Verby, Julia Kitaygorodsky
المصدر: American Journal of Human Genetics
مصطلحات موضوعية: Genotype, Methylenetetrahydrofolate reductase deficiency, Folate Metabolism, DNA Mutational Analysis, Mutation, Missense, Homocystinuria, Saccharomyces cerevisiae, folate, Article, homocystinuria, 03 medical and health sciences, 0302 clinical medicine, deep mutational scanning, Dietary folate, Genetics, medicine, Humans, Missense mutation, variant effect mapping, Methylenetetrahydrofolate Reductase (NADPH2), Genetics (clinical), Gene Library, 030304 developmental biology, mthfr, 0303 health sciences, biology, clinical variant interpretation, cystathionine beta synthase, medicine.disease, Diploidy, methylenetetrahydrofolate reductase, Cystathionine beta synthase, Phenotype, molecular dynamics, digestive system diseases, Amino Acid Substitution, Methylenetetrahydrofolate reductase, gene- environment interaction, biology.protein, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a1b7fb137ff7cfb59d628fe70d842d6Test
https://doi.org/10.1016/j.ajhg.2021.05.009Test -
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المؤلفون: Joshua T. Emmerson, Amanda J. MacFarlane, Patrice D. Smith, Ushananthini Shanmugalingam, William G. Willmore, Nafisa M. Jadavji
المصدر: Experimental Neurology. 309:14-22
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Programmed cell death, Methylenetetrahydrofolate reductase deficiency, Ischemia, Apoptosis, Reductase, Brain Ischemia, Mice, 03 medical and health sciences, Folic Acid, 0302 clinical medicine, Metabolic Diseases, Developmental Neuroscience, Internal medicine, Glial Fibrillary Acidic Protein, medicine, Animals, Viability assay, Homocysteine, Cells, Cultured, Methylenetetrahydrofolate Reductase (NADPH2), Cerebral Cortex, Neurons, biology, business.industry, Wild type, Recovery of Function, Embryo, Mammalian, medicine.disease, digestive system diseases, Mice, Inbred C57BL, Stroke, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, Endocrinology, Gene Expression Regulation, Neurology, Astrocytes, Methylenetetrahydrofolate reductase, biology.protein, Female, business, Psychomotor Performance, 030217 neurology & neurosurgery, Astrocyte
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ea31f35f67c648729b06fea655a9b67Test
https://doi.org/10.1016/j.expneurol.2018.07.014Test -
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المؤلفون: Ramil R. Noche, Emanuela Pannia, Brandi Wasek, James J. Dowling, Rola Hammoud, Ruslan Kubant, Rebecca Simonian, Xiucheng Cui, Terry Bottiglieri, G. Harvey Anderson
المصدر: Curr Dev Nutr
مصطلحات موضوعية: chemistry.chemical_classification, Nutrition and Dietetics, Methionine, Homocysteine, Methylenetetrahydrofolate reductase deficiency, Medicine (miscellaneous), Metabolism, Biology, medicine.disease, biology.organism_classification, Cystathionine beta synthase, digestive system diseases, chemistry.chemical_compound, Enzyme, Biochemistry, Gene interaction, chemistry, Nutrient-Gene Interactions, medicine, biology.protein, Zebrafish, Food Science
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ca5e00c526cb240ec1fb6c6df4925abTest
https://doi.org/10.1093/cdn/nzab050_014Test -
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المؤلفون: Harumi Yoshinaga, Katsumi Imai, Mari Akiyama, Hiroko Tada, Mutsuko Kuribayashi, Tsugumi Shiokawa, Jun Tohyama, Yu Kobayashi, Katsuhiro Kobayashi, Tomoyuki Akiyama, Takafumi Sakakibara, Kaoruko Kanamaru, Soichiro Toda
المصدر: Clinica Chimica Acta. 460:120-125
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Methylenetetrahydrofolate reductase deficiency, Clinical Biochemistry, Clinical Chemistry Tests, Gene mutation, Biology, Biochemistry, High-performance liquid chromatography, 03 medical and health sciences, Folinic acid, Folic Acid, 0302 clinical medicine, Cerebrospinal fluid, Reference Values, Internal medicine, medicine, Humans, Folate Receptor 1, Clinical significance, Child, Chromatography, High Pressure Liquid, Methylenetetrahydrofolate Reductase (NADPH2), Tetrahydrofolates, Biochemistry (medical), Infant, General Medicine, Metabolism, medicine.disease, 030104 developmental biology, Endocrinology, Psychotic Disorders, Muscle Spasticity, Child, Preschool, Methylenetetrahydrofolate reductase, Dietary Supplements, biology.protein, Homocystinuria, 030217 neurology & neurosurgery, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd92bc480493ea94c822af99b6785c23Test
https://doi.org/10.1016/j.cca.2016.06.032Test -
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المؤلفون: Alan Saul, Shanu Markand, Amany Tawfik, Rima Rozen, Sylvia B. Smith, Xuezhi Cui
المصدر: Experimental Eye Research. 145:164-172
مصطلحات موضوعية: 0301 basic medicine, Retinal degeneration, Pathology, medicine.medical_specialty, Methylenetetrahydrofolate reductase deficiency, Biology, 03 medical and health sciences, Cellular and Molecular Neuroscience, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, Retinitis pigmentosa, medicine, Retina, CRB1, Retinal, medicine.disease, digestive system diseases, Sensory Systems, Ophthalmology, 030104 developmental biology, medicine.anatomical_structure, Endocrinology, chemistry, Methylenetetrahydrofolate reductase, 030221 ophthalmology & optometry, biology.protein, Retinal dysplasia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c7aefa0abf46f969b9a48da29a480518Test
https://doi.org/10.1016/j.exer.2015.11.013Test -
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المؤلفون: Mahira Moftah, Patrice D. Smith, Joshua T. Emmerson, Greg O. Cron, Nafisa M. Jadavji, Bill Willmore
المصدر: Current Developments in Nutrition. 3:nzz028.P01-020
مصطلحات موضوعية: medicine.medical_specialty, Aging and Chronic Disease, Nutrition and Dietetics, Homocysteine, Methylenetetrahydrofolate reductase deficiency, Ischemia, Medicine (miscellaneous), Brain tissue, Biology, Hypoxia (medical), medicine.disease, digestive system diseases, chemistry.chemical_compound, Endocrinology, chemistry, Apoptosis, Internal medicine, medicine, medicine.symptom, Sensorimotor cortex, Cell survival, Food Science
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d880ea053ede0270ac7e164b8a2ec069Test
https://doi.org/10.1093/cdn/nzz028.p01-020-19Test -
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المؤلفون: Hava Golan, D. Galron, N. Kezurer
المصدر: Behavioural Brain Research. 253:240-252
مصطلحات موضوعية: Male, medicine.medical_specialty, Genotype, Methylenetetrahydrofolate reductase deficiency, Homocystinuria, Anxiety, Mice, Behavioral Neuroscience, chemistry.chemical_compound, Polymorphism (computer science), Corticosterone, Internal medicine, Reflex, medicine, Animals, Social Behavior, Methylenetetrahydrofolate Reductase (NADPH2), Mice, Knockout, Mice, Inbred BALB C, Sex Characteristics, Behavior, Animal, biology, medicine.disease, digestive system diseases, Endocrinology, Animals, Newborn, Psychotic Disorders, chemistry, Muscle Spasticity, Schizophrenia, Methylenetetrahydrofolate reductase, Exploratory Behavior, biology.protein, Female, Psychology, Stress, Psychological, Sex characteristics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::330f61c949ddf13fb8a2b1e5775f4490Test
https://doi.org/10.1016/j.bbr.2013.07.037Test -
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المؤلفون: Lisa A. Schimmenti, Piero Rinaldo, Jonathan A. Bernstein, Steve Baumgart, Kimiyo Raymond, Fred Lorey, Dietrich Matern, Devin Oglesbee, Uta Lichter-Konecki, Jose E. Abdenur, Debra L. Day-Salvatore, Silvia Tortorelli, Dimitar Gavrilov, Coleman T. Turgeon, James Lim
المصدر: The Journal of Pediatrics. 157:271-275
مصطلحات موضوعية: Percentile, medicine.medical_specialty, Homocysteine, Methylenetetrahydrofolate reductase deficiency, Phenylalanine, Cobalamin, Gastroenterology, chemistry.chemical_compound, Methionine, Neonatal Screening, Reference Values, Tandem Mass Spectrometry, Internal medicine, medicine, Humans, Methylenetetrahydrofolate Reductase (NADPH2), Retrospective Studies, Newborn screening, biology, business.industry, Infant, Newborn, Reproducibility of Results, Retrospective cohort study, medicine.disease, Surgery, chemistry, Methylenetetrahydrofolate reductase, Mutation, Pediatrics, Perinatology and Child Health, biology.protein, business, Algorithms, Metabolism, Inborn Errors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d84f4d6dfed4a6516496e97dff93e479Test
https://doi.org/10.1016/j.jpeds.2010.02.027Test -
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المؤلفون: Stefano Martella, Pietro Caldarella, J. Letkus, Alberto Luini, Camelia Chifu, Mujgan Caliskan, A. Agazzi, Fabricio Brenelli, F. Barbosa, Mario Rietjens, J.Y. Petit
المصدر: Journal of Plastic, Reconstructive & Aesthetic Surgery. 62:e356-e359
مصطلحات موضوعية: Reoperation, medicine.medical_specialty, Necrosis, Methylenetetrahydrofolate reductase deficiency, Mammaplasty, medicine.medical_treatment, Rectus Abdominis, Breast Neoplasms, Surgical Flaps, Abdominal wall, Humans, Medicine, Mastectomy, Methylenetetrahydrofolate Reductase (NADPH2), Radical mastectomy, Skin, Hyperbaric Oxygenation, biology, business.industry, Middle Aged, medicine.disease, eye diseases, Surgery, medicine.anatomical_structure, Methylenetetrahydrofolate reductase, Methylenetetrahydrofolate reductase gene, biology.protein, Female, Flap necrosis, medicine.symptom, business, Breast reconstruction, Metabolism, Inborn Errors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bf59a33e76aa49bf0dc7bfd3b2771e9Test
https://doi.org/10.1016/j.bjps.2008.02.040Test -
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المؤلفون: Kenneth N. Maclean, Leonie G. Mikael, B.C. Schwahn, J. Cohn, Rima Rozen, Xiao-Ling Wang, Hua Jiang, Qing Wu
المصدر: Atherosclerosis. 195:e100-e107
مصطلحات موضوعية: medicine.medical_specialty, Hyperhomocysteinemia, Homocysteine, Apolipoprotein B, Methylenetetrahydrofolate reductase deficiency, Time, Animals, Genetically Modified, Mice, chemistry.chemical_compound, Betaine, Internal medicine, medicine, Animals, Aorta, Methylenetetrahydrofolate Reductase (NADPH2), Triglycerides, Apolipoprotein A-I, Lipotropic Agents, biology, Nitrotyrosine, medicine.disease, Immunohistochemistry, digestive system diseases, Fatty Liver, Disease Models, Animal, Cholesterol, Endocrinology, chemistry, Methylenetetrahydrofolate reductase, biology.protein, Tyrosine, lipids (amino acids, peptides, and proteins), Cardiology and Cardiovascular Medicine, Lipoprotein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::009960eb95441b8f6ea2ca1e648e0f5aTest
https://doi.org/10.1016/j.atherosclerosis.2007.06.030Test