نتائج البحث - "N. A. Barashkov"

المساهمون: This work was supported by research work of the YSC CMP “Study of the genetic structure and burden of hereditary pathology in the populations of the Republic of Sakha (Yakutia)” and the Ministry of Science and Higher Education of the Russian Federation (FSRG-2023-0003)., Работа выполнена в рамках НИР ЯНЦ КМП «Изучение генетической структуры и груза наследственной патологии в популяциях Республики Саха (Якутия) и Государственного задания Министерства науки и высшего образования РФ (FSRG-2023-0003).

المصدر: Medical Genetics; Том 22, № 7 (2023); 51-60 ; Медицинская генетика; Том 22, № 7 (2023); 51-60 ; 2073-7998

مصطلحات موضوعية: Бурятия, inner ear anomalies, enlarged vestibular aqueduct (EVA), incomplete partition of the cochlea (IP-1 and IP-2), thyroid dysfunction, Pendred syndrome, SLC26A4 gene, CEVA haplotype, Buryatia, аномалии внутреннего уха, расширение водопровода преддверия (EVA), неполное разделение улитки (IP-1 и IP-2), нарушение тиреоидной функции, синдром Пендреда, ген SLC26A4, CEVA-гаплотип

وصف الملف: application/pdf

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Prevalent SLC26A4 mutations in patients with enlarged vestibular aqueduct and/or Mondini dysplasia: a unique spectrum of mutations in taiwan, including a frequent founder mutation. Laryngoscope. 2005; 115: 1060-1064. doi:10.1097/01.MLG.0000163339.61909.D0.; tsukada K., Nishio S.Y., Hattori M., et al. Ethnic-specific spectrum of GJB2 and SLC26A4 pathogenic variants: their origin and a literature review. Ann. Otol. Rhinol. Laryngol. 2015; 124 (Suppl. 1): 61–76. https://doi.org/10.1177/0003489415575060Test.; Erdenechuluun J., Lin Y.-H., Ganbat K., et al. Unique spectra of deafness-associated pathogenic variants in Mongolians provide in-sights into the genetic relationships among Eurasian populations. PLoS ONE. 2018; 13: e0209797. doi:10.1371/journal.pone.0209797.; Xiang Y.B., tang S.H., Li H.Z., et al. Pathogenic variant analysis of common deafness-causing genes among 506 patients with nonsyndromic hearing loss from Wenzhou city, China. Int. J. Pediatr. 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Med. 2021; 9 (8): e1734. doi:10.1002/mgg3.1734.; Roesch S., Rasp G., Sarikas A., et al. Genetic Determinants of Non-Syndromic Enlarged Vestibular Aqueduct: A Review. Audiol. Res. 2021; 11(3): 423-442. doi:10.3390/audiolres11030040.; Honda K., Griffith A.J. Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss. Hum. Genet. 2022; 141(3-4): 455-464. https://doi.org/10.1007/s00439-021-02311-1Test.; Yang t., Vidarsson H., Rodrigo-Blomqvist S., et al. transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). Am J. Hum. Genet. 2007: 80: 1055–1063. https://doi.org/10.1086/518314Test.; Yang t., Gurrola J.G., Wu H., et al. Pathogenic variants of KCNJ10 together with pathogenic variants of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome. Am. J. Hum. Genet. 2009; 84(5): 651–657. doi:10.1016/j.ajhg.2009.04.014.; Wu C.C., Lu Y.C., Chen P.J., et al. 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الإتاحة: https://doi.org/10.25557/2073-7998.2023.07.51-60Test
https://doi.org/10.1093/hmg/4.9.1637Test
https://doi.org/10.1038/ng1297-411Test
https://doi.org/10.1038/ng0398-215Test
https://doi.org/10.1007/s004390050933Test
https://doi.org/10.1002/humu.1116Test
https://doi.org/10.1002/lary.1978.88.5.723Test
https://doi.org/10.1002/lary.5540971301Test
https://doi.org/10.1097/00005537-200212000-00019Test
https://doi.org/10.4274/balkanmedj.2017.0367Test

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دورية أكاديمية

The m.1555A>G variant of the MT-RNR1 gene of mitochondrial DNA is the main cause of hearing loss in the Republic of Buryatia ; Вариант m.1555A>G гена MT-RNR1 митохондриальной ДНК – основная причина потери слуха в Республике Бурятия

المؤلفون: T. V. Borisova, A. M. Cherdonova, V. G. Pshennikova, F. M. Teruytin, G. P. Romanov, A. V. Solovyev, S. A. Fedorova, N. A. Barashkov, Т. В. Борисова, А. М. Чердонова, В. Г. Пшенникова, Ф. М. Терютин, Г. П. Романов, А. В. Соловьев, С. А. Федорова, Н. А. Барашков

المساهمون: This work was supported Ministry of Science and Higher Education of the Russian Federation (FSRG-2023-0003) and YSC CMP project “Study of the genetic structure and burden of hereditary pathology in the populations of the Republic of Sakha (Yakutia)”., Работа выполнена в рамках Государственного задания Министерства науки и высшего образования РФ (FSRG-2023-0003) и НИР ЯНЦ КМП «Изучение генетической структуры и груза наследственной патологии в популяциях Республики Саха (Якутия)».

المصدر: Medical Genetics; Том 22, № 8 (2023); 3-12 ; Медицинская генетика; Том 22, № 8 (2023); 3-12 ; 2073-7998

مصطلحات موضوعية: Бурятия, mtDNA, MT-RNR1, m.1555A>G, Buryatia, мтДНК

وصف الملف: application/pdf

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The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia). Genes. 2023; 14: 1001. https://doi.org/10.3390/genes14051001Test.; Ye J., Coulouris G., Zaretskaya I., Cutcutache I., Rozen S., Madden T.L. Primer-BLAST: a tool to design target-specific primers for polymerase chain reaction. BMC Bioinformatics. 2012;13:134. doi:10.1186/1471-2105-13-134.; Данильченко В.Ю. Анализ генетического контроля наследственной потери слуха в популяциях ряда регионов Сибири: Автореферат диссертации на соискание ученой степени кандидата биологических наук. – Новосибирск, 2022.; Пшенникова В.Г., Терютин Ф.М., Романов Г.П. и др. Локальный очаг накопления митохондриальной формы потери слуха в Эвено-Бытантайском районе Якутии. Якутский медицинский журнал. 2022. 4(80): 91-95. DOI 10.25789/YMJ.2022.80.24.; Журавский С.Г. Сенсоневральная тугоухость: молекулярно-генетические, структурные и лечебно-профилактические аспекты (клинико-экспериментальное исследование): диссертация на соискание ученой степени доктора медицинских наук. – Санкт-Петербург, 2006.; Джемилева Л.У., Посух О.Л., Тазетдинов А.М. и др. Анализ генов 12S rRNA и tRNASer(UCN) мтДНК у больных несиндромальной сенсоневральной тугоухостью/глухотой из различных регионов России. Генетика. 2009. 7(45):982-991.; Романов Г.П., Барашков Н.А., Терютин Ф.М. и др. Частота мутации M.1555A>G гена MT-RNR1 митохондриальной ДНК у индивидуумов с нарушениями слуха в Якутии. Якутский медицинский журнал. 2017; 3(59):49-51.; Abe S., Usami S., Shinkawa H. et al. Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation. Eur J Hum Genet. 1998; 6(6):563-9. doi:10.1038/sj.ejhg.5200239.; Usami S., Abe S., Akita J. et al. Prevalence of mitochondrial gene mutations among hearing impaired patients. 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Clinical and molecular findings in a Chinese family with a de novo mitochondrial A1555G mutation. BMC Med Genomics. 2022; 15(1):121. doi:10.1186/s12920-022-01276-y.; Bravo O., Ballana E., Estivill X. Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene. Biochem Biophys Res Commun. 2006; 344(2):511-6. doi:10.1016/j.bbrc.2006.03.143.; López-Bigas N., Rabionet R., Martinez E. et al. Mutations in the mitochondrial tRNA Ser(UCN) and in the GJB2 (connexin 26) gene are not modifiers of the age at onset or severity of hearing loss in Spanish patients with the 12S rRNA A1555G mutation. Am J Hum Genet. 2000; 66(4):1465-7. doi:10.1086/302870.; Gallo-Terán J., Morales-Angulo C., del Castillo I. et al. 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الإتاحة: https://doi.org/10.25557/2073-7998.2023.08.3-12Test
https://doi.org/10.1056/NEJMra050700Test
https://doi.org/10.3389/fnmol.2017.00428Test
https://doi.org/10.1007/s00439-021-02425-6Test
https://doi.org/10.1016/S0140-6736Test(05)71047-3
https://doi.org/10.1038/ng0793-289Test
https://doi.org/10.1016/0196-0709Test(93)90113-l
https://doi.org/10.1016/s0196-0709Test(97)90078-8
https://doi.org/10.1086/301676Test
https://doi.org/10.1073/pnas.0707265105Test

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5

دورية أكاديمية

A novel nonsense variant in the CHD7 gene in a patient with CHARGE syndrome in Yakutia ; Новая нонсенс-замена в гене CHD7 у пациента с синдромом CHARGE в Якутии

المؤلفون: L. A. Klarov, V. G. Pshennikova, F. M. Teryutin, N. V. Luginov, P. M. Kotlyarov, N. A. Barashkov, Л. А. Кларов, В. Г. Пшенникова, Ф. М. Терютин, Н. В. Лугинов, П. М. Котляров, Н. А. Барашков

المساهمون: This study was supported by research work of the YSC CMP «Study of the genetic structure and burden of hereditary pathology in the populations of the Republic of Sakha (Yakutia)», as well as RFBR grant (No. 20- 015-00328_A)., Работа выполнена в рамках НИР ЯНЦ КМП «Изучение генетической структуры и груза наследственной патологии в популяциях Республики Саха (Якутия), а также при поддержке гранта РФФИ (№20-015-00328_A).

المصدر: Medical Genetics; Том 22, № 3 (2023); 35-46 ; Медицинская генетика; Том 22, № 3 (2023); 35-46 ; 2073-7998

مصطلحات موضوعية: Якутия, CHD7 gene, CHD7 -associated disorders, genotype-phenotypic analysis, whole exome analysis, Yakutia, ген CHD7, расстройства, связанные с CHD7, генотип-фенотипический анализ, полноэкзомный анализ

وصف الملف: application/pdf

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الإتاحة: https://doi.org/10.25557/2073-7998.2023.03.35-46Test
https://doi.org/10.1002Test/(SICI)1096-9926(199912)60:6<334::AID-TERA5>3.0.CO;2-S
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https://doi.org/10.1136/jmg.25.3.147Test
https://doi.org/10.1136/adc.65.2.217Test

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6

دورية أكاديمية

In silico assessment of the possible pathogenetic effect of the missense variant c.441G>A p.(Met147Ile) of the SLC26A4 gene on the function/structure of the pendrin protein using the AlfhаFold neural network algorithm ; In silico оценка возможного патогенетического влияния миссенс варианта c.441G>A p.(Met147Ile) гена SLC26A4 на функцию/структуру белка пендрина с применением нейросетевого алгоритма AlfhаFold

المؤلفون: V. G. Pshennikova, G. P. Romanov, L. A. Klarov, N. A. Barashkov, В. Г. Пшенникова, Г. П. Романов, Л. А. Кларов, Н. А. Барашков

المصدر: Medical Genetics; Том 21, № 6 (2022); 37-48 ; Медицинская генетика; Том 21, № 6 (2022); 37-48 ; 2073-7998

مصطلحات موضوعية: Якутия, missense variant, SLC26A4 gene, pendrin protein (SLC26A4), AlfhaFold system, Yakutia, миссенс-замена, ген SLC26A4, белок пендрин (SLC26A4), система AlfhаFold

وصف الملف: application/pdf

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الإتاحة: https://doi.org/10.25557/2073-7998.2022.06.37-48Test
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دورية أكاديمية

Analysis of associations of the RS1 microsatellite locus of the arginine-vasopressin receptor gene (AVPR1A) with the level of hormones of the anterior lobe of the pituitary gland and variations in personality traits in the yakut population ; Анализ ассоциаций микросателлитного локуса RS1 гена рецептора аргинин-вазопрессина (AVPR1A) с уровнем гормонов передней доли гипофиза и вариациями черт личности в популяции якутов

المؤلفون: S. S. Nakhodkin, N. A. Barashkov, A. V. Kazantseva, V. G. Pshennikova, A. A. Nikanorova, E. K. Khusnutdinova, S. A. Fedorova, С. С. Находкин, Н. А. Барашков, А. В. Казанцева, В. Г. Пшенникова, А. А. Никанорова, Э. К. Хуснутдинова, С. А. Федорова

المصدر: Medical Genetics; Том 21, № 2 (2022); 3-14 ; Медицинская генетика; Том 21, № 2 (2022); 3-14 ; 2073-7998

مصطلحات موضوعية: ЛГ, AVPR1A gene, Yakuts, personality traits, hormones ACTH, TSH, FSH, LH, ген AVPR1A, якуты, черты личности, гормоны АКТГ, ТТГ, ФСГ

وصف الملف: application/pdf

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