المؤلفون: E. S. Mel’nikova, S. V. Mustafina, O. D. Rymar, A. A. Ivanova, L. V. Shcherbakova, M. Bobak, S. K. Maljutina, M. I. Voevoda, V. N. Maksimov

المصدر: Сахарный диабет, Vol 25, Iss 3, Pp 215-225 (2022)

مصطلحات موضوعية: type 2 diabetes mellitus, single nucleotide polymorphism, rs13266634, slc30a8, rs17782313, mc4r, prognosis, risk meter, Nutritional diseases. Deficiency diseases, RC620-627

وصف الملف: electronic resource

العلاقة: https://www.dia-endojournals.ru/jour/article/view/12767Test; https://doaj.org/toc/2072-0351Test; https://doaj.org/toc/2072-0378Test

الوصول الحر: https://doaj.org/article/3debac1b93c446eb96f4319e75a074adTest

المؤلفون: E. S. Mel’nikova, O. D. Rymar, A. A. Ivanova, S. V. Mustafina, M. Ju. Shapkina, Martin Bobak, S. K. Maljutina, M. I. Voevoda, V. N. Maksimov

المصدر: Терапевтический архив, Vol 92, Iss 10, Pp 40-47 (2020)

مصطلحات موضوعية: type 2 diabetes mellitus, single nucleotide polymorphism, rs7903146, tcf7l2, rs1799883, fabp2, rs2237892, kcnq1, rs6773957, adipoq, prognosis, risk meter, Medicine

وصف الملف: electronic resource

العلاقة: https://ter-arkhiv.ru/0040-3660/article/viewFile/50975/34464Test; https://doaj.org/toc/0040-3660Test; https://doaj.org/toc/2309-5342Test

الوصول الحر: https://doaj.org/article/48f52defc4854ee0934a61e892a88f49Test

المؤلفون: A. A. Ivanova, A. A. Gurazheva, E. S. Mel’nikova, V. N. Maksimov, E. G. Nemcova, А. А. Иванова, А. А. Гуражева, Е. С. Мельникова, В. Н. Максимов, Е. Г. Немцова

المساهمون: The study was carried out with the financial support of the Government of the Novosibirsk region within the framework of the State Budget No. 122031700094-5 of Research Institutе of Internal and Preventive Medicine – Branch of the Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences., Исследование выполнено при финансовой поддержке Правительства Новосибирской области в рамках ГЗ № 122031700094-5.

المصدر: Bulletin of Siberian Medicine; Том 22, № 2 (2023); 39-45 ; Бюллетень сибирской медицины; Том 22, № 2 (2023); 39-45 ; 1819-3684 ; 1682-0363 ; 10.20538/1682-0363-2023-22-2

مصطلحات موضوعية: неконъюгированная гипербилирубинемия, rs3064744, rs34993780, rs56059937, rs4148323, rs4124874, UGT1A1 gene, unconjugated hyperbilirubinemia, ген UGT1А1

وصف الملف: application/pdf

العلاقة: https://bulletin.ssmu.ru/jour/article/view/5218/3391Test; https://bulletin.ssmu.ru/jour/article/view/5218/3414Test; King D., Armstrong M.J. Overview of Gilbert’s syndrome. Drug Ther. Bull. 2019;57(2):27–31. DOI:10.1136/dtb.2018.000028. PMID: 30709860.; Kringen M.K., Piehler A.P., Grimholt R.M., Opdal M.S., Haug K.B., Urdal P. Serum bilirubin concentration in healthy adult North-Europeans is strictly controlled by the UGT1A1 TA-repeat variants. PLoS One. 2014;9(2):e90248. DOI:10.1371/journal.pone.0090248.; Maruo Y., D’Addario C., Mori A., Iwai M., Takahashi H., Sato H. et al. Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome. Hum. Genet. 2004;115(6):525–526. DOI:10.1007/s00439-004-1183-x.; Steventon G. Uridine diphosphate glucuronosyltransferase 1A1. Xenobiotica. 2020;50(1):64–76. DOI:10.1080/00498254.2019.1617910.; Gazzin S., Masutti F., Vitek L., Tiribelli C. The molecular basis of jaundice: An old symptom revisited. Liver Int. 2017;37(8):1094–1102. DOI:10.1111/liv.13351.; Udomuksorn W., Elliot D.J., Lewis B.C., Mackenzie P.I., Yoovathaworn K., Miners J.O. Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates. Pharmacogenet Genomics. 2007;17(12):1017–1029. DOI:10.1097/FPC.0b013e328256b1b6.; Zhou J., Yang C., Zhu W., Chen S., Zeng Y., Wang J. et al. Identification of Genetic Risk Factors for Neonatal Hyperbilirubinemia in Fujian Province, Southeastern China: A Case-Control Study. Biomed. Res. Int. 2018;2018:7803175. DOI:10.1155/2018/7803175.; Bale G., Avanthi U.S., Padaki N.R., Sharma M., Duvvur N.R., Vishnubhotla V.R.K. Incidence and risk of gallstone disease in Gilbert’s syndrome patients in indian population. J. Clin. Exp. Hepatol. 2018;8(4):362–366. DOI:10.1016/j.jceh.2017.12.006.; Sugatani J., Yamakawa K., Yoshinari K., Machida T., Takagi H., Mori M. et al. Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia. Biochem. Biophys. Res. Commun. 2002;292(2):492– 497. DOI:10.1006/bbrc.2002.6683.; https://bulletin.ssmu.ru/jour/article/view/5218Test

الإتاحة: https://doi.org/10.20538/1682-0363-2023-2-39-45Test
https://doi.org/10.20538/1682-0363-2023-22-2Test
https://doi.org/10.1136/dtb.2018.000028Test
https://doi.org/10.1371/journal.pone.0090248Test
https://doi.org/10.1007/s00439-004-1183-xTest
https://doi.org/10.1080/00498254.2019.1617910Test
https://doi.org/10.1111/liv.13351Test
https://doi.org/10.1097/FPC.0b013e328256b1b6Test
https://doi.org/10.1155/2018/7803175Test
https://doi.org/10.1016/j.jceh.2017.12.006Test

المؤلفون: E. S. Mel’nikova, Anastasia A. Ivanova, Vladimir N. Maksimov, Irina Aleksandrovna Rodina, Olesya Viktorovna Khamovich, Vladimir Pavlovich Novoselov, Sofya Konstantinovna Malutina, A. A. Gurazheva

المصدر: Molekulyarnaya Meditsina (Molecular medicine). 19:33-39

مصطلحات موضوعية: business.industry, medicine, Bioinformatics, medicine.disease, business, Gene, Sudden cardiac death

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b7c02c526d3bb110d6d8b9540a8471abTest
https://doi.org/10.29296/24999490-2021-05-05Test

المؤلفون: S. K. Maljutina, O D Rymar, S V Mustafina, M. Ju. Shapkina, A. A. Ivanova, Vladimir N. Maksimov, Martin Bobak, M I Voevoda, E. S. Mel’nikova

المصدر: Терапевтический архив, Vol 92, Iss 10, Pp 40-47 (2020)

مصطلحات موضوعية: Male, 0301 basic medicine, History, endocrine system diseases, type 2 diabetes mellitus, Endocrinology, Diabetes and Metabolism, lcsh:Medicine, rs6773957, 0302 clinical medicine, single nucleotide polymorphism, Prospective Studies, rs1799883, education.field_of_study, tcf7l2, rs2237892, General Medicine, Middle Aged, rs7903146, risk meter, KCNQ1 Potassium Channel, Female, Adiponectin, adipoq, Family Practice, Transcription Factor 7-Like 2 Protein, endocrine system, medicine.medical_specialty, Diabetes risk, Genotype, Population, 030209 endocrinology & metabolism, Single-nucleotide polymorphism, Fatty Acid-Binding Proteins, Polymorphism, Single Nucleotide, kcnq1, 03 medical and health sciences, Internal medicine, Diabetes mellitus, medicine, Humans, Genetic Predisposition to Disease, fabp2, education, Genotyping, business.industry, lcsh:R, Type 2 Diabetes Mellitus, nutritional and metabolic diseases, medicine.disease, 030104 developmental biology, Diabetes Mellitus, Type 2, Case-Control Studies, Relative risk, prognosis, business, TCF7L2

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c99e8dbba13b616ea2e451c27c12e26Test
https://ter-arkhiv.ru/0040-3660/article/viewFile/50975/34464Test

المؤلفون: Vladimir Maximov, Viktoria Karpova, Tatyana I. Pospelova, Anastasia A. Ivanova, Anna A Gurageva, Maria I Churkina, Olga V. Beresina, E. S. Mel’nikova, E. N. Voropaeva

المصدر: 2020 Cognitive Sciences, Genomics and Bioinformatics (CSGB).

مصطلحات موضوعية: Mutation, Database, breakpoint cluster region, Cancer, PIM1, Genomics, CD79B, Biology, medicine.disease, medicine.disease_cause, computer.software_genre, Lymphoma, hemic and lymphatic diseases, medicine, Diffuse large B-cell lymphoma, computer

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1b1d0ed3deaed62435422afa4ad380dfTest
https://doi.org/10.1109/csgb51356.2020.9214638Test

المؤلفون: I. A. Rodina, S. K. Malyutina, Vladimir N. Maksimov, A. A. Gurazheva, E. S. Mel’nikova, Anastasia A. Ivanova, A.M. Nesterets

المصدر: Modern Technologies in Medicine

مصطلحات موضوعية: Genetic Markers, Male, medicine.medical_specialty, rs34554140, Single-nucleotide polymorphism, Biotechnologies, Polymorphism, Single Nucleotide, sudden cardiac death, General Biochemistry, Genetics and Molecular Biology, Sudden cardiac death, law.invention, single nucleotide polymorphism, law, Internal medicine, Genotype, Humans, Medicine, Molecular Biology, Genotyping, Polymerase chain reaction, business.industry, DNA, molecular genetic marker, General Medicine, Venous blood, Middle Aged, medicine.disease, Death, Sudden, Cardiac, Genetic marker, rs6670279, rs6874185, Female, Restriction fragment length polymorphism, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2473e8bd6deb8743dd74daf2f611ba0aTest
https://doi.org/10.17691/stm2021.13.2.04Test