المؤلفون: Caroline de Souza Silverio, Carolina Bonilla

المصدر: Biomédica: revista del Instituto Nacional de Salud, Vol 44, Iss 1, Pp 45-53 (2024)

مصطلحات موضوعية: vitamin d, genome-wide association study, polymorphisms, single nucleotide, vitamin d-binding protein, vitamin d3 24-hydroxylase, 5-hydroxyvitamin d3 1-alphahydroxylase, leishmania braziliensis, Medicine, Arctic medicine. Tropical medicine, RC955-962

وصف الملف: electronic resource

العلاقة: https://revistabiomedica.org/index.php/biomedica/article/view/6972Test; https://doaj.org/toc/0120-4157Test; https://doaj.org/toc/2590-7379Test

الوصول الحر: https://doaj.org/article/40f6300594ad44d88df806b3f6187ed1Test

المؤلفون: Jakub Krzysztof Nowicki, Anna Maćkowska, Małgorzata Rychwalska, Marcin Zaniew, Elżbieta Jakubowska-Pietkiewicz

المصدر: Pediatria Polska, Vol 98, Iss 4, Pp 351-361 (2023)

مصطلحات موضوعية: paediatrics, bone density, calcium, nephrocalcinosis, vitamin d3 24-hydroxylase., Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.termedia.pl/Accidentally-detected-nephrocalcinosis-in-a-boy-with-a-homozygous-R396W-mutation-in-the-CYP24A1-gene-7-year-follow-up,127,51996,1,1.htmlTest; https://doaj.org/toc/0031-3939Test; https://doaj.org/toc/2300-8660Test

الوصول الحر: https://doaj.org/article/710d4d4c138f42f28d16fa74eccc099fTest

المؤلفون: de Souza Silverio , Caroline, Bonilla , Carolina

المصدر: Biomedica; Vol. 44 No. 1 (2024); 45-53 ; Biomédica; Vol. 44 Núm. 1 (2024); 45-53 ; 2590-7379 ; 0120-4157

مصطلحات موضوعية: Vitamin D, genome-wide association study, polymorphisms, single nucleotide, vitamin D-binding protein, vitamin D3 24-hydroxylase, 5-hydroxyvitamin D3 1-alphahydroxylase, leishmania braziliensis, vitamina D, estudios de asociación del genoma completo, polimorfismos de nucleótido simple, proteína de unión a la vitamina D, vitamina D3 24-hidroxilasa, 25-hidroxivitamina D3 1-alfa-hidroxilasa, Brasil

وصف الملف: application/pdf

العلاقة: https://revistabiomedica.org/index.php/biomedica/article/view/6972/5441Test; https://revistabiomedica.org/index.php/biomedica/article/view/6972/5492Test; Holick MF. Optimal vitamin D status for the prevention and treatment of osteoporosis. Drugs Aging. 2007;24:1017-29. https://doi.org/10.2165/00002512-200724120-00005Test; Charoenngam N, Holick MF. Immunologic effects of vitamin D on human health and disease. Nutrients. 2020;12:2097. https://doi.org/10.3390/nu12072097Test; Pilz S, Grübler M, Gaksch M, Schwetz V, Trummer C. Vitamin D and mortality. Anticancer Res. 2016;36:1379-88.; Bandera-Merchan B, Morcillo S, Martin-Nuñez G, Tinahones FJ, Macías-González M. The role of vitamin D and VDR in carcinogenesis: Through epidemiology and basic sciences. J Steroid Biochem Mol Biol. 2017;167:203-18. https://doi.org/10.1016/j.jsbmb.2016.11.020Test; Vieth R, Holick MF. The IOM—Endocrine Society controversy on recommended vitamin D targets. In: Vitamin D: Volume One: Biochemistry, Physiology and Diagnostics. 4th edition. Cambridge, MA: Academic Press; 2018. p. 1091-107. https://doi.org/10.1016/B978-0-12-809965-0.00059-8Test; Smith GD, Ebrahim S. ‘Mendelian randomization’: can genetic epidemiology contribute to understanding environmental determinants of disease? Int J Epidemiol. 2003;32:1-22. https://doi.org/10.1093/ije/dyg070Test; Bennett DA, Du H. An overview of methods and exemplars of the use of Mendelian randomisation in nutritional research. Nutrients. 2022;14:3408. https://doi.org/10.3390/nu14163408Test; Global Core Biodata Resource. GWAS Catalog. Accessed: October 1, 2021. Available at: https://www.ebi.ac.uk/gwasTest/; National Library of Medicine. PubMed. Accessed: January 10, 2022. Available at : https://pubmed.ncbi.nlm.nih.govTest/; Pan-American Health Organization. LILACS, scientific health information from Latin America and the Caribbean countries. Accessed: January 10, 2022. Available at: https://lilacs.bvsalud.orgTest/; Elsevier B. V. Scopus. Accessed: January 10, 2022. Available at: https://www.scopus.comTest/; Red SciELO. Scielo, Scientific Electronic Library Online. Accessed: January 10, 2022. Available at: https://scielo.orgTest/; Instituto Brasileiro de Informação em Ciência e Tecnologia. Biblioteca Digital Brasileira de Teses e Dissertacoes. Accessed: January 10, 2022. Available at: http://bdtd.ibict.br/vufindTest/; Cobayashi F, Lourenço BH, Cardoso MA. 25-hydroxyvitamin D3 levels, BsmI polymorphism and insulin resistance in Brazilian Amazonian children. Int J Mol Sci. 2015;16:12531-46. https://doi.org/10.3390/ijms160612531Test; Santos BR, Mascarenhas LPG, Satler F, Boguszewski MCS, Spritzer PM. Vitamin D deficiency in girls from South Brazil: A cross-sectional study on prevalence and association with vitamin D receptor gene variants. BMC Pediatr. 2012;12:606. https://doi.org/10.1186/1471-2431-12-62Test; Ferraz RS, Silva CS, Cavalcante GC, de Queiroz NNM, Felício KM, Felício JS, et al. Variants in the VDR gene may influence 25(OH)D levels in type 1 diabetes mellitus in a Brazilian population. Nutrients. 2022;14:1010. https://doi.org/10.3390/nu14051010Test; Galvão AA, de Araújo Sena F, de Andrade Belitardo EMM, de Santana MBR, Costa GN de O, Cruz ÁA, et al. Genetic polymorphisms in vitamin D pathway influence 25(OH)D levels and are associated with atopy and asthma. Allergy Asthma Clin Immunol. 2020;16:62. https://doi.org/10.1186/s13223-020-00460-yTest; Bezerra FF, Normando P, Fonseca ACP, Zembrzuski V, Campos-Junior M, Cabello-Acero PH, et al. Genetic, sociodemographic and lifestyle factors associated with serum 25-hydroxyvitamin D. Cad Saúde Publica. 2022;38:e00287820. https://doi.org/10.1590/0102-311X00287820Test; Brait BJ, da Silva Lima SP, Aguiar FL, Fernandes-Ferreira R, OliveiraBrancati CIF, Ferraz JAML, et al. Genetic polymorphisms related to the vitamin D pathway in patients with cirrhosis with or without hepatocellular carcinoma (HCC). Ecancermedicalscience. 2022;16:1383. https://doi.org/10.3332/ecancer.2022.1383Test; Vidigal VM, Silva TD, de Oliveira J, Pimenta CAM, Felipe AV, Forones NM. Genetic polymorphisms of vitamin D receptor (VDR), CYP27B1 and CYP24A1 genes and the risk of colorectal cancer. Int J Biol Markers. 2017;32:e224-30. https://doi.org/10.5301/jbm.5000248Test; de Paula Corrêa M, Pires LCM. Doses of erythemal ultraviolet radiation observed in Brazil. Int J Dermatol. 2013;52:966-73. https://doi.org/10.1111/j.1365-4632.2012.05834.xTest; Pereira-Santos M, dos Santos JYG, Carvalho GQ, Santos DB, Oliveira AM. Epidemiology of vitamin D insufficiency and deficiency in a population in a sunny country: Geospatial metaanalysis in Brazil. Crit Rev Food Sci Nutr. 2019;59:2102-9. https://doi.org/10.1080/10408398.2018.1437711Test; Mendes MM, Hart KH, Botelho PB, Lanham-New SA. Vitamin D status in the tropics: Is sunlight exposure the main determinant? Nutr Bull. 2018;43:428-34. https://doi.org/10.1111/nbu.12349Test; Maeda SS, Borba VZC, Camargo MBR, Silva DMW, Borges JLC, Bandeira F, et al. Recomendações da Sociedade Brasileira de Endocrinologia e Metabologia (SBEM) para o diagnóstico e tratamento da hipovitaminose D. Arq Bras Endocrinol Metabol. 2014;58:411-33. https://doi.org/10.1590/0004-2730000003388Test; Ahn J, Yu K, Stolzenberg-Solomon R, Simon KC, McCullough ML, Gallicchio L, et al. Genome-wide association study of circulating vitamin D levels. Hum Mol Genet. 2010;19:2739-45. https://doi.org/10.1093/hmg/ddq155Test; Wang TJ, Zhang F, Richards JB, Kestenbaum B, van Meurs JB, Berry D, et al. Common genetic determinants of vitamin D insufficiency: A genome-wide association study. Lancet. 2010;376:180-8. https://doi.org/10.1016/S0140-6736Test(10)60588-0; Hong J, Hatchell KE, Bradfield JP, Bjonnes A, Chesi A, Lai CQ, et al. Transethnic evaluation identifies low-frequency loci associated with 25-hydroxyvitamin D concentrations. J Clin Endocrinol Metab. 2018;103:1380-92. https://doi.org/10.1210/jc.2017-01802Test; Kim YA, Yoon JW, Lee Y, Choi HJ, Yun JW, Bae E, et al. Unveiling genetic variants underlying vitamin D deficiency in multiple Korean cohorts by a genome-wide association study. Endocrinol Metab. 2021;36:1189-200. https://doi.org/10.3803/EnM.2021.1241Test; Parlato LA, Welch R, Ong IM, Long J, Cai Q, Steinwandel MD, et al. Genome-wide association study (GWAS) of circulating vitamin D outcomes among individuals of African ancestry. Am J Clin Nutr. 2023;117:308-16. https://doi.org/10.1016/j.ajcnut.2022.12.001Test; Manousaki D, Mitchell R, Dudding T, Haworth S, Harroud A, Forgetta V, et al. Genomewide association study for vitamin D levels reveals 69 independent loci. Am J Hum Genet. 2020;106:327-37. https://doi.org/10.1016/j.ajhg.2020.01.017Test; https://revistabiomedica.org/index.php/biomedica/article/view/6972Test

الإتاحة: https://doi.org/10.2165/00002512-200724120-00005Test
https://doi.org/10.3390/nu12072097Test
https://doi.org/10.1016/j.jsbmb.2016.11.020Test
https://doi.org/10.1016/B978-0-12-809965-0.00059-8Test
https://doi.org/10.3390/nu14163408Test
https://doi.org/10.3390/ijms160612531Test
https://doi.org/10.1186/1471-2431-12-62Test
https://doi.org/10.3390/nu14051010Test
https://doi.org/10.1186/s13223-020-00460-yTest
https://doi.org/10.1590/0102-311X00287820Test

المؤلفون: Jeesun Yoo, Hee Gyung Kang, Yo Han Ahn

المصدر: Childhood Kidney Diseases, Vol 26, Iss 1, Pp 63-67 (2022)

مصطلحات موضوعية: case reports, failure to thrive, hypercalcemia, nephrocalcinosis, vitamin d3 24-hydroxylase, Internal medicine, RC31-1245, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: http://www.chikd.org/upload/ckd-22-027.pdfTest; https://doaj.org/toc/2384-0242Test; https://doaj.org/toc/2384-0250Test

الوصول الحر: https://doaj.org/article/2a4995d7df534db9b60c7d3436c1246fTest

المؤلفون: Cheng, Yan, Du, Yunpeng, Liu, Haitao, Tang, Jie, Veenstra, Alex, Kern, Timothy S

المصدر: Diabetes. 67(2)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Neurosciences, Clinical Research, Nutrition, Eye Disease and Disorders of Vision, Diabetes, Eye, Metabolic and endocrine, Adult Stem Cells, Animals, Biomarkers, Capillary Permeability, Diabetes Mellitus, Experimental, Diabetic Retinopathy, Disease Progression, Eye Proteins, Gene Expression Regulation, Image Processing, Computer-Assisted, Low-Level Light Therapy, Male, Mice, Inbred C57BL, Microscopy, Fluorescence, Nerve Tissue Proteins, Neurons, Receptors, Calcitriol, Retina, Retinal Vessels, Streptozocin, Vision, Ocular, Vitamin D3 24-Hydroxylase, Medical and Health Sciences, Endocrinology & Metabolism, Biomedical and clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/50n8310nTest

المؤلفون: Zhou, Rui, Park, Juw Won, Chun, Rene F, Lisse, Thomas S, Garcia, Alejandro J, Zavala, Kathryn, Sea, Jessica L, Lu, Zhi-xiang, Xu, Jianzhong, Adams, John S, Xing, Yi, Hewison, Martin

المصدر: Nucleic Acids Research. 45(2)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Nutrition, Biotechnology, 1.1 Normal biological development and functioning, Underpinning research, Generic health relevance, Alternative Splicing, Cell Line, Tumor, Cluster Analysis, Gene Expression Profiling, Gene Expression Regulation, Gene Knockdown Techniques, Heterogeneous-Nuclear Ribonucleoprotein Group C, High-Throughput Nucleotide Sequencing, Humans, Osteocytes, Promoter Regions, Genetic, Protein Binding, RNA Interference, RNA Precursors, RNA Splicing, Transcription, Genetic, Vitamin D, Vitamin D3 24-Hydroxylase, Environmental Sciences, Information and Computing Sciences, Developmental Biology, Biological sciences, Chemical sciences, Environmental sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/66h9b01mTest

المؤلفون: Saitman, Alec, Gao, Hanlin, Clarke, Nigel, Chi, Nai-Wen, Fitzgerald, Robert, Woods, Gina

المصدر: Journal of Bone and Mineral Research. 31(10)

مصطلحات موضوعية: CYP24A1, HYPERCALCEMIA, PANCREATITIS, VITAMIN D, Acute Disease, Adult, Base Sequence, Female, Humans, Hypercalcemia, Pancreatitis, Pregnancy, Puerperal Disorders, Sequence Deletion, Vitamin D3 24-Hydroxylase

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6595j6t4Test

المؤلفون: Woods, Gina N, Saitman, Alec, Gao, Hanlin, Clarke, Nigel J, Fitzgerald, Robert L, Chi, Nai-Wen

المصدر: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 31(10)

مصطلحات موضوعية: Humans, Pancreatitis, Puerperal Disorders, Hypercalcemia, Acute Disease, Sequence Deletion, Base Sequence, Pregnancy, Adult, Female, Vitamin D3 24-Hydroxylase, CYP24A1, HYPERCALCEMIA, PANCREATITIS, VITAMIN D, Nutrition, Pediatric, Reproductive health and childbirth, Anatomy & Morphology, Biological Sciences, Engineering, Medical and Health Sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8cq5v00zTest

المؤلفون: Agnello L., Scazzone C., Sasso B. L., Vidali M., Giglio R. V., Ciaccio A. M., Ragonese P., Salemi G., Ciaccio M.

المساهمون: Agnello L., Scazzone C., Sasso B.L., Vidali M., Giglio R.V., Ciaccio A.M., Ragonese P., Salemi G., Ciaccio M.

مصطلحات موضوعية: genetic, Vitamin D, MS, prognosi, severity, SNP, Cholestanetriol 26-Monooxygenase, Cytochrome P450 Family 2, Vitamin D3 24-Hydroxylase, Human, Multiple Sclerosi, Vitamins

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35893044; volume:13; issue:8; firstpage:1; lastpage:8; numberofpages:8; journal:GENES; https://hdl.handle.net/10447/567474Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85135104157; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9394239Test/

الإتاحة: https://doi.org/10.3390/genes13081307Test
https://hdl.handle.net/10447/567474Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9394239Test/

المؤلفون: Alshabrawy, A.K., Cui, Y., Sylvester, C., Yang, D., Petito, E.S., Barratt, K.R., Sawyer, R.K., Heatlie, J.K., Polara, R., Sykes, M.J., Atkins, G.J., Hickey, S.M., Wiese, M.D., Stringer, A.M., Liu, Z., Anderson, P.H.

المصدر: http://dx.doi.org/10.3390/biom12070960Test.

مصطلحات موضوعية: vitamin D3, CYP24A1, in silico docking, catabolism inhibition, HEK293T, Humans, Oximes, Cholecalciferol, Cytochrome P-450 Enzyme System, Vitamin D, Receptors, Calcitriol, Renal Insufficiency, Chronic, HEK293 Cells, Vitamin D3 24-Hydroxylase

وصف الملف: application/pdf

العلاقة: http://purl.org/au-research/grants/nhmrc/GNT1165107Test; Biomolecules, 2022; 12(7):1-14; https://hdl.handle.net/2440/136096Test; Yang, D. [0000-0002-5471-6288]; Atkins, G.J. [0000-0002-3123-9861]; Stringer, A.M. [0000-0003-3245-5360]

الإتاحة: https://doi.org/10.3390/biom12070960Test
https://hdl.handle.net/2440/136096Test