INFLUENCE OF SINGLE NUCLEOTIDE POLYMORPHISMS OF THE KISS1 GENE ON THE DEVELOPMENT OF ANOVULATORY INFERTILITY IN WOMEN

Συγγραφείς: Анна Николаевна Лысова, Елена Петровна Шатунова, Елена Григорьевна Зарубина

Πηγή: Мать и дитя в Кузбассе, Vol 26, Iss 2, Pp 22-27 (2025)

Θεματικοί όροι: кисспептин, ановуляторное бесплодие, генотип, однонуклеотидный полиморфизм, гормональный фон, Pediatrics, RJ1-570, Gynecology and obstetrics, RG1-991

Περιγραφή αρχείου: electronic resource

Relation: https://mednauki.ru/index.php/MD/article/view/1190; https://doaj.org/toc/1991-010X; https://doaj.org/toc/2542-0968

Σύνδεσμος πρόσβασης: https://doaj.org/article/eca309f2c9f2482ea17ace88f1a5453e

Исследование полиморфизмов в кодирующей части паралогичных генов инсулиноподобного фактора роста 2 (IGF2) у стерляди (Acipenser ruthenus, Linnaeus, 1758)

Θεματικοί όροι: паралогичный ген, single nucleotide polymorphism (SNP), aquaculture, однонуклеотидный полиморфизм (SNP), paralogic gene, sterlet (Acipenser ruthenus), маркерная селекция, стерлядь (Acipenser ruthenus), marker-assisted selection, insulin-like growth factor 2 (IGF2), инсулиноподобный фактор роста 2 (IGF2), аквакультура

INFLUENCE OF SINGLE NUCLEOTIDE POLYMORPHISMS OF THE KISS1 GENE ON THE DEVELOPMENT OF ANOVULATORY INFERTILITY IN WOMEN

Πηγή: Мать и дитя в Кузбассе, Vol 26, Iss 2, Pp 22-27 (2025)

Θεματικοί όροι: кисспептин, однонуклеотидный полиморфизм, генотип, RG1-991, ановуляторное бесплодие, гормональный фон, Gynecology and obstetrics, Pediatrics, RJ1-570

Σύνδεσμος πρόσβασης: https://doaj.org/article/eca309f2c9f2482ea17ace88f1a5453e

INFLUENCE OF SINGLE NUCLEOTIDE POLYMORPHISMS OF THE KISS1 GENE ON THE DEVELOPMENT OF ANOVULATORY INFERTILITY IN WOMEN ; ВЛИЯНИЕ ОДНОНУКЛЕОТИДНЫХ ПОЛИМОРФИЗМОВ ГЕНА KISS1 НА РАЗВИТИЕ У ЖЕНЩИН АНОВУЛЯТОРНОГО БЕСПЛОДИЯ

Συγγραφείς: Лысова, Анна Николаевна, Шатунова, Елена Петровна, Зарубина, Елена Григорьевна

Πηγή: Mother and Baby in Kuzbass; № 2 (2025): март; 22-27 ; Мать и Дитя в Кузбассе; № 2 (2025): март; 22-27 ; 2542-0968 ; 1991-010X

Θεματικοί όροι: kisspeptin, anovulatory infertility, genotype, single nucleotide polymorphism, hormonal background, кисспептин, ановуляторное бесплодие, генотип, однонуклеотидный полиморфизм, гормональный фон

Περιγραφή αρχείου: application/pdf; text/html

Relation: http://mednauki.ru/index.php/MD/article/view/1190/2116; http://mednauki.ru/index.php/MD/article/view/1190/2158; http://mednauki.ru/index.php/MD/article/view/1190

Διαθεσιμότητα: http://mednauki.ru/index.php/MD/article/view/1190

GlucoGenes®, a database of genes and proteins associated with glucose metabolism disorders, its description and applications in bioinformatics research ; База данных о генах и белках, ассоциированных с нарушениями метаболизма глюкозы (GlucoGenes®): описание и возможности применения в биоинформатических исследованиях

Συγγραφείς: V. V. Klimontov, K. S. Shishin, R. A. Ivanov, M. P. Ponomarenko, K. A. Zolotareva, S. A. Lashin, В. В. Климонтов, К. С. Шишин, Р. А. Иванов, М. П. Пономаренко, К. А. Золотарева, С. А. Лашин

Συνεισφορές: The sections on evolutionary analysis of genes and SNP analysis were performed using the Bioinformatics Sharing Centre supported by Budget Project No. FWNR-2022-0006. The authors express their sincere gratitude to O.V. Saik (RICEL – branch of ICG SB RAS) for her significant contribution to data collection and valuable advice on the development of the database. We also thank A.M. Mukhin (ICG SB RAS) for technical assistance in creating the web resource.

Πηγή: Vavilov Journal of Genetics and Breeding; Том 28, № 8 (2024); 1008-1017 ; Вавиловский журнал генетики и селекции; Том 28, № 8 (2024); 1008-1017 ; 2500-3259 ; 10.18699/vjgb-24-88

Θεματικοί όροι: однонуклеотидный полиморфизм, protein, diabetes mellitus, hyperglycemia, hypoglycemia, glucose variability, database, phylostratigraphic index, single nucleotide polymorphism, белок, cахарный диабет, гипергликемия, гипогликемия, вариабельность глюкозы, база данных, филостратиграфический индекс

Περιγραφή αρχείου: application/pdf

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Life Sci. 2022;298:120490. doi 10.1016/j.lfs.2022.120490; Domazet-Lošo T., Tautz D. A phylogenetically based transcriptome age index mirrors ontogenetic divergence patterns. Nature. 2010; 468(7325):815-819. doi 10.1038/nature09632; Filonov S.V., Podkolodnyy N.L., Podkolodnaya O.A., Tverdokhleb N.N., Ponomarenko P.M., Rasskazov D.A., Bogomolov A.G., Ponomarenko M.P. Human_SNP_TATAdb: a database of SNPs that statistically significantly change the affinity of the TATA-binding protein to human gene promoters: genome-wide analysis and use cases. Vavilovskii Zhurnal Genetiki i Selektsii = Vavilov Journal of Genetics and Breeding. 2023;27(7):728-736. doi 10.18699/VJGB-23-85; Hall E., Dekker Nitert M., Volkov P., Malmgren S., Mulder H., Bacos K., Ling C. The effects of high glucose exposure on global gene expression and DNA methylation in human pancreatic islets. Mol. Cell. Endocrinol. 2018;472:57-67. doi 10.1016/j.mce.2017.11.019; Hanefeld M., Frier B.M., Pistrosch F. Hypoglycemia and cardiovascular risk: is there a major link? Diabetes Care. 2016;39(S.2):S205-S209. doi 10.2337/dcS15-3014; International Diabetes Federation. IDF Diabetes Atlas, 10th ed. Brussels, 2021; Ivanisenko V.A., Saik O.V., Ivanisenko N.V., Tiys E.S., Ivanisenko T.V., Demenkov P.S., Kolchanov N.A. ANDSystem: an Associative Network Discovery System for automated literature mining in the field of biology. BMC Syst. Biol. 2015;9(S2):S2. doi 10.1186/1752-0509-9-S2-S2; Ivanisenko V.A., Demenkov P.S., Ivanisenko T.V., Mishchenko E.L., Saik O.V. A new version of the ANDSystem tool for automatic extraction of knowledge from scientific publications with expanded functionality for reconstruction of associative gene networks by considering tissue-specific gene expression. BMC Bioinformatics. 2019;20(1):34. doi 10.1186/s12859-018-2567-6; Kanehisa M., Sato Y., Kawashima M., Furumichi M., Tanabe M. KEGG as a reference resource for gene and protein annotation. 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Lancet. 2018;391(10138):2463-2474. doi 10.1016/S0140-6736(18)31132-2; Li Y., Liang R., Sun M., Li Z., Sheng H., Wang J., Xu P., Liu S., Yang W., Lu B., Zhang S., Shan C. AMPK-dependent phosphorylation of HDAC8 triggers PGM1 expression to promote lung cancer cell survival under glucose starvation. Cancer Lett. 2020;478:82-92. doi 10.1016/j.canlet.2020.03.007; Lyssenko V., Vaag A. Genetics of diabetes-associated microvascular complications. Diabetologia. 2023;66(9):1601-1613. doi 10.1007/s00125-023-05964-x; Maloof A.C., Porter S.M., Moore J.L., Dudás F.Ö., Bowring S.A., Higgins J.A., Fike D.A., Eddy M.P. The earliest Cambrian record of animals and ocean geochemical change. Geol. Soc. Am. Bull. 2010; 122(11-12):1731-1774. doi 10.1130/B30346.1; Mustafin Z.S., Lashin S.A., Matushkin Yu.G. Phylostratigraphic analysis of gene networks of human diseases. Vavilovskii Zhurnal Genetiki i Selektsii = Vavilov Journal of Genetics and Breeding. 2021; 25(1):46-56. doi 10.18699/VJ21.006; Nielsen J. Systems biology of metabolism: A driver for developing personalized and precision medicine. Cell Metab. 2017:25(3):572-579. doi 10.1016/j.cmet.2017.02.002; Orlov Y.L., Anashkina A.A., Klimontov V.V., Baranova A.V. Medical genetics, genomics and bioinformatics aid in understanding molecular mechanisms of human diseases. Int. J. Mol. Sci. 2021;22(18): 9962. doi 10.3390/ijms22189962; Putra S.E.D., Martriano Humardani F., Antonius Y., Jonathan J., Thalia Mulyanata L. Epigenetics of Diabetes: A bioinformatic approach. Clin. Chim. Acta. 2024;557:117856. doi 10.1016/j.cca.2024.117856; Rehni A.K., Dave K.R. Impact of hypoglycemia on brain metabolism during diabetes. Mol. Neurobiol. 2018;55(12):9075-9088. doi 10.1007/s12035-018-1044-6; Saik O.V., Klimontov V.V. Bioinformatic reconstruction and analysis of gene networks related to glucose variability in diabetes and its complications. Int. J. Mol. Sci. 2020;21(22):8691. doi 10.3390/ijms21228691; Saik O.V., Klimontov V.V. Hypoglycemia, vascular disease and cognitive dysfunction in diabetes: insights from text mining-based reconstruction and bioinformatics analysis of the gene networks. Int. J. Mol. Sci. 2021;22(22):12419. doi 10.3390/ijms22222212419; Saik O.V., Klimontov V.V. Gene networks of hyperglycemia, diabetic complications, and human proteins targeted by SARS-CoV-2: what is the molecular basis for comorbidity? Int. J. Mol. Sci. 2022;23:7247. doi 10.3390/ijms23137247; Sasaki T., Kuroko M., Sekine S., Matsui S., Kikuchi O., Susanti V.Y., Kobayashi M., Tanaka Y., Yuasa T., Kitamura T. Overexpression of insulin receptor partially improves obese and diabetic phenotypes in db/db mice. Endocr. J. 2015;62(9):787-796. doi 10.1507/endocrj.ej15-0255; Shojima N., Yamauchi T. Progress in genetics of type 2 diabetes and diabetic complications. J. Diabetes Investig. 2023;14(4):503-515. doi 10.1111/jdi.13970; Vaulont S., Vasseur-Cognet M., Kahn A. Glucose regulation of gene transcription. J. Biol. Chem. 2000;275(41):31555-31558. doi 10.1074/jbc.R000016200; Vega M.E., Finlay J., Vasishtha M., Schwarzbauer J.E. Elevated glucose alters global gene expression and tenascin-C alternative splicing in mesangial cells. Matrix Biol. Plus. 2020;8:100048. doi 10.1016/j.mbplus.2020.100048; Yang Z. PAML 4: Phylogenetic analysis by maximum likelihood. Mol. Biol. Evol. 2007;24(8):1586-1591. doi 10.1093/molbev/msm088; Wilmot E.G., Choudhary P., Leelarathna L., Baxter M. Glycaemic variability: The under-recognized therapeutic target in type 1 diabetes care. Diabetes Obes. Metab. 2019;21(12):2599-2608. doi 10.1111/dom.13842; Zhang S., Ke Z., Yang C., Zhou P., Jiang H., Chen L., Li Y., Li Q. High glucose causes distinct expression patterns of primary human skin cells by RNA sequencing. Front. Endocrinol. 2021;12:603645. doi 10.3389/fendo.2021.603645; Zhang Q., Xiao X., Zheng J., Li M., Yu M., Ping F., Wang T., Wang X. DNA methylation regulates pancreatic gene expression and links maternal high-fat diet to the offspring glucose metabolism. J. Nutr. Biochem. 2024;123:109490. doi 10.1016/j.jnutbio.2023.109490; https://vavilov.elpub.ru/jour/article/view/4421

Διαθεσιμότητα: https://vavilov.elpub.ru/jour/article/view/4421
https://doi.org/10.18699/vjgb-24-107

Анализ ассоциаций однонуклеотидных полиморфизмов в геноме радужной форели с отдельными фенотипическими признаками

Θεματικοί όροι: радужная форель, однонуклеотидный полиморфизм, single nucleotide polymorphism, association, ассоциация, 14. Life underwater, rainbow trout, 3. Good health

GENETIC ASSOCIATIONS WITH RHEUMATOID ARTHRITIS SUSCEPTIBILITY. REVIEW: ГЕНЕТИЧЕСКИЕ АССОЦИАЦИИ С ПРЕДРАСПОЛОЖЕННОСТЬЮ К РЕВМАТОИДНОМУ АРТРИТУ. ОБЗОР ЛИТЕРАТУРЫ.

Συγγραφείς: Issilbayeva, A.A., Ainabekova, B.A.

Πηγή: Наука и здравоохранение. :139-146

Θεματικοί όροι: Ревматоидты артрит, Genetic predisposition, Бір нуклеотидті полиморфизм (SNP), Однонуклеотидный полиморфизм (SNP), исследования обще геномных ассоциаций (GWAS), HLA-ға жатпайтын гендер, Жалпы геномдық қауымдастықтарды зерттеу (GWAS), 3. Good health, Адамның лейкоциттік антигенінің гендері (HLA), non-HLA genes, Human Leucocyte Antigen (HLA) genes, Ревматоидный артрит, гены, Генетикалық бейімділік, Single nucleotide polymorphism (SNP), genome-wide association studies (GWAS), Генетическая предрасположенность, не относящиеся к HLA, Rheumatoid arthritis, гены лейкоцитарного антигена человека (HLA)

ПОЛНОГЕНОМНЫЙ ПОИСК АССОЦИАЦИЙ КАК ПЕРСПЕКТИВНЫЙ МЕТОД В ЖИВОТНОВОДЧЕСКОЙ ОТРАСЛИ (Обзор)

Θεματικοί όροι: животноводство, геномная селекция, продуктивный признак, полногеномный поиск ассоциаций, ген-кандидат, однонуклеотидный полиморфизм, livestock breeding, genomic selection, productive trait, genome-wide association study, candidate gene, single-nucleotide polymorphism

Значення однонуклеотидних поліморфізмів в генах mTOR (rs11121704) та ATG5 (rs510432) в розвитку алергічних захворювань у дітей

Συγγραφείς: Volosovets, O.P., Dosenko, V.Ye., Kryvopustov, S.P., Pavlyk, O.V., Yeemets, O.V., Stroi, D.O.

Πηγή: Zdorovʹe Rebenka, Vol 10, Iss 3.63, Pp 5-11 (2015)
CHILD`S HEALTH; № 3.63 (2015); 5-11
Здоровье ребенка-Zdorovʹe rebenka; № 3.63 (2015); 5-11
Здоров'я дитини-Zdorovʹe rebenka; № 3.63 (2015); 5-11

Θεματικοί όροι: autophagy, allergic diseases, children, однонуклеотидный полиморфизм, аутофагия, mTOR, ATG5, аллергическая патология, дети, однонуклеотидний поліморфізм, автофагія, алергічна патологія, діти, single nucleotide polymorphism, Pediatrics, RJ1-570, 3. Good health

Περιγραφή αρχείου: application/pdf

Σύνδεσμος πρόσβασης: https://doaj.org/article/38f61ef20c1c4df8965bb9e48ea7f6f3
http://childshealth.zaslavsky.com.ua/article/view/75177
http://childshealth.zaslavsky.com.ua/article/download/75177/70649
http://childshealth.zaslavsky.com.ua/article/view/75177

Функціональне значення однонуклеотидного поліморфізму (RS11204981) в гені філагрину (FLG) для лікування бронхіальної астми у дітей з атопічним дерматитом

Συγγραφείς: Volosovets, O.P., Dosenko, V.Ye., Kryvopustov, S.P., Pavlyk, O.V., Yemets, O.V., Stroi, D.O.

Πηγή: Zdorovʹe Rebenka, Vol 10, Iss 1.60, Pp 14-18 (2015)
CHILD`S HEALTH; № 1.60 (2015); 14-18
Здоровье ребенка-Zdorovʹe rebenka; № 1.60 (2015); 14-18
Здоров'я дитини-Zdorovʹe rebenka; № 1.60 (2015); 14-18

Θεματικοί όροι: single-nucleotide polymorphism, filaggrin, asthma, pediatrics, однонуклеотидний поліморфізм, філагрин, астма, педіатрія, однонуклеотидный полиморфизм, филаггрин, педиатрия, Pediatrics, RJ1-570, 3. Good health

Περιγραφή αρχείου: application/pdf

Σύνδεσμος πρόσβασης: https://doaj.org/article/23ade63e92fc44e3b62126b4c7c1253b
http://childshealth.zaslavsky.com.ua/article/download/74929/70351
http://childshealth.zaslavsky.com.ua/article/view/74929
http://childshealth.zaslavsky.com.ua/article/view/74929

Polymorphism of the NOS3 gene of endothelial (NO) nitric oxide synthase as a predictor of the formation of vascular pathologies ; Полиморфизм гена NOS3 эндотелиальной (еNOS) синтазы оксида азота как предиктор формирования сосудистых патологий

Συγγραφείς: Дунай, В.И., Глинская, Н.А., Жук, О.Н., Сильченко, Е.С.

Πηγή: Bulletin of Polessky State University. Series in Natural Sciences; No. 1 (2024); 56-65 ; Веснік Палескага дзяржаўнага універсітэта. Серыя прыродазнаўчых навук; № 1 (2024); 56-65 ; 2524-2326 ; 2078-5461

Θεματικοί όροι: оксид азота, эндотелиальная NO-синтаза (еNOS), ген эндотелиальной синтазы оксида азота (NOS3), аллель, однонуклеотидный полиморфизм (SNP), nitric oxide, endothelial NO synthase (eNOS), endothelial nitric oxide synthase (NOS3) gene, allele, single nucleotide polymorphism (SNP)

Περιγραφή αρχείου: application/pdf

Relation: https://ojs.polessu.by/BPSUS2/article/view/1916/1600; https://ojs.polessu.by/BPSUS2/article/view/1916

Διαθεσιμότητα: https://ojs.polessu.by/BPSUS2/article/view/1916

Association of three single nucleotide polymorphisms in the LPIN1 gene with milk production traits in cows of the Yaroslavl breed ; Ассоциация трех однонуклеотидных полиморфизмов в гене LPIN1 с показателями молочной продуктивности у коров ярославской породы

Συγγραφείς: A. V. Igoshin, T. M. Mishakova, R. B. Aitnazarov, A. V. Ilina, D. M. Larkin, N. S. Yudin, А. В. Игошин, Т. М. Мишакова, Р. Б. Айтназаров, А. В. Ильина, Д. М. Ларкин, Н. С. Юдин

Συνεισφορές: This work was supported by State Budgeted Project No. FWNR-2022-0039.

Πηγή: Vavilov Journal of Genetics and Breeding; Том 28, № 1 (2024); 117-125 ; Вавиловский журнал генетики и селекции; Том 28, № 1 (2024); 117-125 ; 2500-3259 ; 10.18699/vjgb-24-01

Θεματικοί όροι: ассоциация, Yaroslavl breed, milk yield, fat percentage, protein percentage, fat yield, protein yield, LPIN1 gene, single nucleotide polymorphism, association, ярославская порода, удой, процент жира, процент белка, выход жира, выход белка, ген LPIN1, однонуклеотидный полиморфизм

Περιγραφή αρχείου: application/pdf

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DOI 10.1186/s12859-018-2057-x; https://vavilov.elpub.ru/jour/article/view/4062

Διαθεσιμότητα: https://vavilov.elpub.ru/jour/article/view/4062
https://doi.org/10.18699/vjgb-24-14

History, status and genetic characteristics of native cattle breeds from the Republic of Kazakhstan ; История, современное состояние и генетическая характеристика локальных пород крупного рогатого скота Республики Казахстан

Συγγραφείς: A. K. Khamzina, A. A. Yurchenko, N. S. Yudin, P. Sh. Ibragimov, Y. S. Ussenbekov, D. M. Larkin, А. К. Хамзина, А. А. Юрченко, Н. С. Юдин, П. Ш. Ибрагимов, Е. С. Усенбеков, Д. М. Ларкин

Συνεισφορές: The work was performed in the framework of a grant funding project for scientific and (or) scientific and technical projects for 2023–2025 (Ministry of Science and Higher Education of the Republic of Kazakhstan) AP19674808 – Creation of genetic passports and study of genetics of local Kazakhstani cattle breeds using genome resequencing.

Πηγή: Vavilov Journal of Genetics and Breeding; Том 28, № 4 (2024); 416-423 ; Вавиловский журнал генетики и селекции; Том 28, № 4 (2024); 416-423 ; 2500-3259 ; 10.18699/vjgb-24-41

Θεματικοί όροι: однонуклеотидный полиморфизм, breeds, history, Kazakhstan, genetic characteristics, single nucleotide polymorphism, породы, история, Казахстан, генетическая характеристика

Περιγραφή αρχείου: application/pdf

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Διαθεσιμότητα: https://vavilov.elpub.ru/jour/article/view/4184
https://doi.org/10.18699/vjgb-24-47

Genome-wide search for associations method for identification of molecular markers and candidate genes of breed affiliation of sheep of the North Caucasian meat and wool breed ; Выявление молекулярных маркеров и генов-кандидатов породной принадлежности северокавказских мясо-шерстных овец методом полногеномного поиска ассоциаций

Συγγραφείς: A. Yu. Krivoruchko, A. V. Skokova, O. A. Yatsyk, M. Yu. Kuharuk, A. A. Likhovid, N. I. Kizilova, А. Ю. Криворучко, А. В. Скокова, О. А. Яцык, М. Ю. Кухарук, А. А. Лиховид, Н. И. Кизилова

Πηγή: Proceedings of the National Academy of Sciences of Belarus. Agrarian Series; Том 62, № 1 (2024); 57-67 ; Известия Национальной академии наук Беларуси. Серия аграрных наук; Том 62, № 1 (2024); 57-67 ; 1817-7239 ; 1817-7204 ; 10.29235/1817-7204-2024-62-1

Θεματικοί όροι: полногеномный поиск ассоциаций, breed identification, single nucleotide polymorphism, DNA biochip, genome-wide association search, идентификация породы, однонуклеотидный полиморфизм, ДНК-биочип

Περιγραφή αρχείου: application/pdf

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Διαθεσιμότητα: https://vestiagr.belnauka.by/jour/article/view/740
https://doi.org/10.29235/1817-7204-2024-62-1-57-67

MTRR gene rs1801394 polymorphism is associated with neonatal birth weight in pregnant women with fetal growth retardation ; Полиморфизм rs1801394 гена MTRR ассоциирован с массой тела новорожденного у беременных с задержкой роста плода

Συγγραφείς: Yu. N. Reshetnikova, I. V. Ponomarenko, V. М. Churnosov, M. S. Ponomarenko, M. I. Churnosov, E. A. Reshetnikov, Ю. Н. Решетникова, И. В. Пономаренко, В. М. Чурносов, М. С. Пономаренко, М. И. Чурносов, Е. А. Решетников

Πηγή: Obstetrics, Gynecology and Reproduction; Vol 18, No 1 (2024); 46-54 ; Акушерство, Гинекология и Репродукция; Vol 18, No 1 (2024); 46-54 ; 2500-3194 ; 2313-7347

Θεματικοί όροι: масса тела новорожденного, FGR, single nucleotide polymorphism, SNP, folate cycle, MTRR gene, associations, neonatal birth weight, ЗРП, однонуклеотидный полиморфизм, фолатный цикл, ген MTRR, ассоциации

Περιγραφή αρχείου: application/pdf

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Effects of maternal 5,10-methylenetetrahydrofolate reductase C677T and A1298C Polymorphisms and tobacco smoking on infant birth weight in a Japanese population. J Epidemiol. 2012;22(2):91–102. https://doi.org/10.2188/jea.JE20110039.; Sukla K.K., Tiwari P.K., Kumar A., Raman R. Low birthweight (LBW) and neonatal hyperbilirubinemia (NNH) in an Indian cohort: Association of homocysteine, its metabolic pathway genes and micronutrients as risk factors. PLoS ONE. 2013;8(8):e71587. https://doi.org/10.1371/journal.pone.0071587.; Liew S.C., Gupta E.D. Methylenetetrahydrofolatereductase (MTHFR) C677T polymorphism: epidemiology, metabolism and the associated diseases. Eur J Med Genet. 2015;58(1):1–10. https://doi.org/10.1016/j.ejmg.2014.10.004.; Tiwari D., Bose P.D., Das S. et al. MTHFR (C677T) polymorphism and PR (PROGINS) mutation as genetic factors for preterm delivery, fetal death and low birth weight: A Northeast Indian population based study. Meta Gene. 2015;3:31–42. https://doi.org/10.1016/j.mgene.2014.12.002.; Wu H., Zhu P., Geng X. et al. Genetic polymorphism of MTHFR C677T with preterm birth and low birth weight susceptibility: a meta-analysis. Arch Gynecol Obstet. 2017;295(5):1105–18. https://doi.org/10.1007/s00404-017-4322-z.; Wang S., Duan Y., Jiang S. et al. Relationships between maternal gene polymorphisms in one carbon metabolism and adverse pregnancy outcomes: a prospective mother and child cohort study in China. Nutrients. 2022;14(10):2108. https://doi.org/10.3390/nu14102108.; Медведев М.В. Пренатальнаяэхография: дифференциальный диагноз и прогноз. М.: Реал Тайм, 2012. 448 с.; Пономаренко И.В., Решетников Е.А., Полоников А.В., Чурносов М.И. Полиморфный локус rs314276 гена LIN28B ассоциирован с возрастом менархе у женщин Центрального Черноземья России. Акушерство и гинекология. 2019;(2):98–104. https://doi.org/10.18565/aig.2019.2.98-104.; Wu P.P., Tang R.N., An L. A meta-analysis of MTRR A66G polymorphism and colorectal cancer susceptibility. J BUON. 2015;20(3):918–22.; Bergen N.E., Schalekamp-Timmermans S., Jaddoe V.W. et al. Maternal and neonatal markers of the homocysteine pathway and fetal growth: The Generation R Study. Paediatr Perinat Epidemiol. 2016;30(4):386–96. https://doi.org/10.1111/ppe.12297.; Laskowska M., Laskowska K., Oleszczuk J. Differences in the association between maternal serum homocysteine and ADMA levels in women with pregnancies complicated by preeclampsia and/or intrauterine growth restriction. Hypertens Pregnancy. 2013;32(1):83–93. https://doi.org/10.3109/10641955.2012.751993.; Cawley S., O'Malley E.G., Kennedy R.A.K. et al. The relationship between maternal plasma homocysteine in early pregnancy and birth weight. J Matern Fetal Neonatal Med. 2020;33(18):3045–9. https://doi.org/10.1080/14767058.2019.1567705.; Gaughan D.J., Kluijtmans L.A., Barbaux S. et al The methionine synthase reductase (MTRR) A66G polymorphism is a novel genetic determinant of plasma homocysteine concentrations. Atherosclerosis. 2001;157(2):451–6. https://doi.org/10.1016/s0021-9150(00)00739-5.; Wu X., Zou T., Cao N. Plasma homocysteine levels and genetic polymorphisms in folatemetablism are associated with breast cancer risk in chinese women. Hered Cancer Clin Pract. 2014;12(1):2. https://doi.org/10.1186/1897-4287-12-2.; Ni J., Liu Y., Zhou T., Wu X., Wang X. Single nucleotide polymorphisms in key one-carbon metabolism genes and their association with blood folate and homocysteine levels in a Chinese population in Yunnan. Genet Test Mol Biomarkers. 2018;22(3):193–8. https://doi.org/10.1089/gtmb.2017.0195.; Dewelle W.K., Melka D.S., Aklilu A.T. et al. Polymorphisms in maternal selected folate metabolism-related genes in neural tube defect-affected pregnancy. Adv Biomed Res. 2023;12:160. https://doi.org/10.4103/abr.abr_103_22.; Su J., Li Z. Analysis of MTR and MTRR gene polymorphisms in Chinese patients with ventricular septal defect. Appl Immunohistochem Mol Morphol. 2018;26(10):769–74. https://doi.org/10.1097/PAI.0000000000000512.; Yadav U., Kumar P., Rai V. Distribution of methionine synthase reductase (MTRR) gene A66G polymorphism in Indian Population. Indian J Clin Biochem. 2021;36(1):23–32. https://doi.org/10.1007/s12291-019-00862-9.; https://www.gynecology.su/jour/article/view/1878

Διαθεσιμότητα: https://www.gynecology.su/jour/article/view/1878
https://doi.org/10.17749/2313-7347/ob.gyn.rep.2024.466

New variants in the genes of connective tissue components in a patient with ascending aortic aneurysm ; Новые варианты в генах компонентов соединительной ткани у пациента с аневризмой восходящего отдела аорты

Συγγραφείς: S. A. Shipulina, I. A. Goncharova, A. A. Sleptcov, D. S. Panfilov, E. V. Lelik, B. N. Kozlov, M. S. Nazarenko, С. А. Шипулина, И. А. Гончарова, А. А. Слепцов, Д. С. Панфилов, Е. В. Лелик, Б. Н. Козлов, М. С. Назаренко

Συνεισφορές: Information collection and analysis were carried out with the financial support of the Russian Science Foundation grant No. 22-25-00701., Сбор и анализ информации выполнены при финансовой поддержке гранта РНФ № 22-25-00701.

Πηγή: Medical Genetics; Том 23, № 6 (2024); 35-43 ; Медицинская генетика; Том 23, № 6 (2024); 35-43 ; 2073-7998

Θεματικοί όροι: дисплазия соединительной ткани, single nucleotide polymorphism, connective tissue diseases, однонуклеотидный полиморфизм

Περιγραφή αρχείου: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/2488/1798; Deng J., Li D., Zhang X., et al. Murine model of elastase-induced proximal thoracic aortic aneurysm through a midline incision in the anterior neck. Front Cardiovasc Med. 2023 Feb 6;10:953514.; Howard D.P.J., Banerjee A., Fairhead J.F., et al. Population-Based Study of Incidence and Outcome of Acute Aortic Dissection and Premorbid Risk Factor Control. Circulation. 2013 May 21;127(20):2031–7.; Salmasi M.Y., Alwis S., Cyclewala S., et al. The genetic basis of thoracic aortic disease: The future of aneurysm classification? Hell J Cardiol. 2023;69:41–50.; Bhandari R., Aatre R.D., Kanthi Y. Diagnostic approach and management of genetic aortopathies. Vasc Med. 2020 Feb 1;25(1):63–77.; Verstraeten A., Luyckx I., Loeys B. Aetiology and management of hereditary aortopathy. Nat Rev Cardiol. 2017 Apr;14(4):197–208.; Weerakkody R., Ross D., Parry D.A., et al. Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta. Genet Med Off J Am Coll Med Genet. 2018 Nov;20(11):1414–22.; Arnaud P., Hanna N., Benarroch L., et al. Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD). Genet Med Off J Am Coll Med Genet. 2019 Sep;21(9):2015–24.; Milewicz D.M., Guo D., Hostetler E., et al. Update on the genetic risk for thoracic aortic aneurysms and acute aortic dissections: implications for clinical care. J Cardiovasc Surg (Torino). 2021 Jun;62(3):203–10.; Rodrigues Bento J., Meester J., Luyckx I., et al. The Genetics and Typical Traits of Thoracic Aortic Aneurysm and Dissection. Annu Rev Genomics Hum Genet. 2022 Aug 31;23:223–53.; Ewans L.J., Colley A., Gaston-Massuet C., et al. Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications. J Med Genet. 2019 Sep;56(9):629–38.; Renard M., Francis C., Ghosh R., et al. Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection. J Am Coll Cardiol. 2018 Aug 7;72(6):605–15.; Kontopodis N., Pantidis D., Dedes A., et al. The – Not So – Solid 5.5 cm Threshold for Abdominal Aortic Aneurysm Repair: Facts, Misinterpretations, and Future Directions. Front Surg. 2016 Jan 25;3:1.; Sazonova S.I., Saushkin V.V., Panfilov D.S., et al. Insights into ascending aortic aneurysm: Interactions between biomechanical properties of the aortic wall and tissue biomarkers. Heliyon. 2024 Jan 15;10(1):e23538.; Koenig S.N., Cavus O., Williams J., et al. New mechanistic insights to PLOD1-mediated human vascular disease. Transl Res J Lab Clin Med. 2022 Jan;239:1–17.; Li Y., Gao S., Han Y., et al. Variants of Focal Adhesion Scaffold Genes Cause Thoracic Aortic Aneurysm. Circ Res. 2021 Jan 8;128(1):8–23.; Guo D.C., Hostetler E.M., Fan Y., et al. Heritable Thoracic Aortic Disease Genes in Sporadic Aortic Dissection. J Am Coll Cardiol. 2017 Nov 28;70(21):2728–30.; Reddy P., Nair K.S., Kumar V., et al. Thoracic Aortic Aneurysmal Disease: Comprehensive Recommendations for the Primary Care Physician. Mayo Clin Proc. 2024 Jan;99(1):111–23.; Brownstein A.J., Kostiuk V., Ziganshin B.A., et al. Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2018 Update and Clinical Implications. Aorta Stamford Conn. 2018 Feb;6(1):13–20.; Versbraegen N., Gravel B., Nachtegael C., et al. Faster and more accurate pathogenic combination predictions with VarCoPP2.0. BMC Bioinformatics. 2023 May 1;24(1):179.; Kwartler C.S., Gong L., Chen J., et al. Variants of Unknown Significance in Genes Associated with Heritable Thoracic Aortic Disease Can Be Low Penetrant “Risk Variants.” Am J Hum Genet. 2018 Jul 5;103(1):138–43.

Διαθεσιμότητα: https://www.medgen-journal.ru/jour/article/view/2488
https://doi.org/10.25557/2073-7998.2024.06.35-43

Генетический вариант rs11568818 матриксной металлопротеиназы 7 ассоциирован с весом новорожденного у беременных с задержкой роста плода

Συγγραφείς: Решетникова, Ю. Н., Пономаренко, И. В., Чурносов, В. И., Пономаренко, М. С., Решетников, Е. А.

Θεματικοί όροι: медицина, медицинская генетика, беременные, задержка роста плода, однонуклеотидный полиморфизм, матриксные металлопротеиназы, MMP-7, ассоциации, вес новорожденного

Relation: http://dspace.bsu.edu.ru/handle/123456789/63262

Διαθεσιμότητα: http://dspace.bsu.edu.ru/handle/123456789/63262

Association of T102C (rs6313) serotonin receptor gene HTR2A polymorphism with the development of anxiety, depressive disorders in children with organic and functional respiratory pathologies

Πηγή: Сучасна педіатрія. Україна; № 6(134) (2023): Сучасна педіатрія. Україна; 56-67
Modern Pediatrics. Ukraine; No. 6(134) (2023): Modern pediatrics. Ukraine; 56-67
Modern Pediatrics. Ukraine; № 6(134) (2023): Modern pediatrics. Ukraine; 56-67

Θεματικοί όροι: пневмонія, дети школьного возраста, соматоформний розлад, депресія, діти шкільного віку, anxiety, тривожність, 3. Good health, однонуклеотидный полиморфизм, тревожность, children, single nucleotide polymorphism, depression, pneumonia, бронхиальная астма, bronchial asthma, somatoform disorder, соматоформное расстройство, однонуклеотидний поліморфізм, бронхіальна астма

Περιγραφή αρχείου: application/pdf

Σύνδεσμος πρόσβασης: http://mpu.med-expert.com.ua/article/view/292554

Асоціація варіацій генів POMP, FLG, MTOR ТА ATG5 із ризиком розвитку бронхіальної астми в дітей

Συγγραφείς: Volosovets, O.P., Kryvopustov, S.P., Pavlyk, O.V., Yemets, O.V., Stroi, D.O., Dosenko, V.Ye.

Πηγή: Zdorovʹe Rebenka, Vol 11, Iss 1.69, Pp 18-24 (2016)
CHILD`S HEALTH; № 1.69 (2016); 18-24
Здоровье ребенка-Zdorovʹe rebenka; № 1.69 (2016); 18-24
Здоров'я дитини-Zdorovʹe rebenka; № 1.69 (2016); 18-24

Θεματικοί όροι: single-nucleotide polymorphism, filaggrin, proteasome proteolysis, autophagy, MTOR, asthma, pediatrics, однонуклеотидный полиморфизм, филаггрин, аутофагия, протеасомный протеолиз, бронхиальная астма, педиатрия, однонуклеотидний поліморфізм, філагрин, протеасомний протеоліз, автофагія, бронхіальна астма, педіатрія, Pediatrics, RJ1-570, 3. Good health

Περιγραφή αρχείου: application/pdf

Σύνδεσμος πρόσβασης: http://childshealth.zaslavsky.com.ua/article/download/73693/69110
https://doaj.org/article/dd47cab8b68a4097a7c83f83a854e746
https://core.ac.uk/display/87785581
http://childshealth.zaslavsky.com.ua/article/download/73693/69110
http://childshealth.zaslavsky.com.ua/article/view/73693
http://childshealth.zaslavsky.com.ua/article/view/73693

Значення однонуклеотидного поліморфізму rs4769628 гена РОМР у розвитку атопічних захворювань у дітей

Συγγραφείς: Yemets, O.V.

Πηγή: Zdorovʹe Rebenka, Vol 11, Iss 4.72, Pp 7-12 (2016)
CHILD`S HEALTH; № 4.72 (2016); 7-12
Здоровье ребенка-Zdorovʹe rebenka; № 4.72 (2016); 7-12
Здоров'я дитини-Zdorovʹe rebenka; № 4.72 (2016); 7-12

Θεματικοί όροι: 2. Zero hunger, proteasomal proteolysis, children, single-nucleotide polymorphism, POMP, atopic diseases, Pediatrics, RJ1-570, однонуклеотидный полиморфизм, протеасомный протеолиз, РОМР, атопические заболевания, дети, однонуклеотидний поліморфізм, протеасомний протеоліз, атопічні захворювання, діти, 3. Good health

Περιγραφή αρχείου: application/pdf

Σύνδεσμος πρόσβασης: http://childshealth.zaslavsky.com.ua/article/download/76583/72129
https://doaj.org/article/edaf51bd6eea40e584c27567bed67e22
https://core.ac.uk/display/87785468
http://childshealth.zaslavsky.com.ua/article/view/76583
http://childshealth.zaslavsky.com.ua/article/download/76583/72129
http://childshealth.zaslavsky.com.ua/article/view/76583