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1Academic Journal
المؤلفون: V. G. Pshennikova, A. M. Cherdonova, T. V. Borisova, F. M. Teryutin, N. A. Barashkov, S. A. Fedorova, В. Г. Пшенникова, А. М. Чердонова, Т. В. Борисова, Ф. М. Терютин, Н. А. Барашков, С. А. Федорова
المساهمون: YSC CMP “Study of the genetic structure and burden of hereditary pathology of the populations of the Republic of Sakha (Yakutia)”, Ministry of Science and Education of the Russian Federation (FSRG-2023-0003)., Работа выполнена в рамках Государственного задания Министерства науки и высшего образования РФ (FSRG-20230003) и НИР ЯНЦ КМП «Изучение генетической структуры и груза наследственной патологии в популяциях Республики Саха (Якутия)».
المصدر: Medical Genetics; Том 23, № 7 (2024); 42-50 ; Медицинская генетика; Том 23, № 7 (2024); 42-50 ; 2073-7998
مصطلحات موضوعية: Якутия, copy number variation (CNV), STRC gene, STRCP1 pseudogene, DFNB16, Yakutia, вариации числа копий (CNV), ген STRC, псевдоген STRCP1
وصف الملف: application/pdf
Relation: https://www.medgen-journal.ru/jour/article/view/2508/1805; Han S., Zhang D., Guo Y. et al. Prevalence and Characteristics of STRC Gene Mutations (DFNB16): A Systematic Review and MetaAnalysis. Front Genet. 2021 Sep 21;12:707845. doi:10.3389/fgene.2021.707845.; Sloan-Heggen C.M., Bierer A.O, Shearer A.E. et al. Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. Hum Genet. 2016 Apr;135(4):441-450. doi:10.1007/s00439016-1648-8.; Plevova P., Paprskarova M., Tvrda P. et al. STRC Deletion is a Frequent Cause of Slight to Moderate Congenital Hearing Impairment in the Czech Republic. Otol Neurotol. 2017 Dec;38(10):e393-e400. doi:10.1097/MAO.0000000000001571.; Back D., Shehata-Dieler W., Vona B. et al. Phenotypic Characterization of DFNB16-associated Hearing Loss. Otol Neurotol. 2019 Jan;40(1):e48-e55. doi:10.1097/MAO.0000000000002059.; Čada Z., Šafka Brožková D., Balatková Z. et al. Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene. Eur Arch Otorhinolaryngol. 2019 Dec;276(12):3353-3358. doi:10.1007/s00405-019-05649-5.; Shatokhina O., Galeeva N., Stepanova A., Markova T. et al. Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel. Int. J. Mol. Sci. 2022, 23, 15748. https://doi.org/10.3390/ijms232415748; Verpy E., Masmoudi S., Zwaenepoel I. et al. Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus. Nature Genet. 2001 29: 345-349.; Hildebrand M.S., Avenarius M.R., Smith R.J.H. CATSPER-Related Male Infertility – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2009 Dec 3 [updated 2017 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.; Francey L.J., Conlin L.K., Kadesch H.E. et al. Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment. Am J Med Genet A. 2012 Feb;158A(2):298-308. doi:10.1002/ajmg.a.34391.; Abbasi W., French C.E., Rockowitz S. et al. Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings. Hum Genet. 2022 Apr;141(3-4):387-400. doi:10.1007/s00439-021-02365-1.; Butz M., McDonald A., Lundquist P.A. et al. Development and Validation of a Next-Generation Sequencing Panel for Syndromic and Nonsyndromic Hearing Loss. J Appl Lab Med. 2020 May 1;5(3):467479. doi:10.1093/jalm/jfaa021.; Gabrielaite M., Torp M.H., Rasmussen M.S. et al. A Comparison of Tools for Copy-Number Variation Detection in Germline Whole Exome and Whole Genome Sequencing Data. Cancers (Basel). 2021 Dec 14;13(24):6283. doi:10.3390/cancers13246283.; Rentas S., Abou Tayoun A. Utility of droplet digital PCR and NGSbased CNV clinical assays in hearing loss diagnostics: current status and future prospects. Expert Rev Mol Diagn. 2021 Feb;21(2):213221. doi:10.1080/14737159.2021.1887731.; Vona B., Hofrichter M.A., Neuner C. et al. DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics. Clin Genet. 2015;87(1):4955. doi:10.1111/cge.12332.; D’haene B., Vandesompele J., Hellemans J. Accurate and objective copy number profiling using real-time quantitative PCR. Methods. 2010 Apr;50(4):262-70. doi:10.1016/j.ymeth.2009.12.007.; Barashkov N.A., Pshennikova V.G., Posukh O.L. et al. Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic). PLoS One. 2016 May 25;11(5):e0156300. doi:10.1371/journal.pone.0156300.; Пшенникова В.Г., Барашков Н.А., Соловьев А.В. и др. Поиск мутаций в генах GJB6 (Сх30) и GJB3 (Сх31) у глухих пациентов с моноаллельными мутациями гена GJB2 (Сх26) в Якутии. Генетика. 2017;53(6):705-715. DOI 10.7868/S0016675817030109.; Романов Г.П., Барашков Н.А., Терютин Ф.М. и др. Брачная структура, репродуктивные параметры и мутации гена GJB2 (СX26) у глухих людей в Якутии. Генетика. 2018;54(5):547-555. DOI 10.7868/S0016675818050053.; Marková S.P., Brožková D.Š., Laššuthová P. et al. STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population. Genet Test Mol Biomarkers. 2018 Feb;22(2):127-134. doi:10.1089/gtmb.2017.0155.; Миронович ОЛ. Генетическая гетерогенность несиндромальной и имитирующей ее синдромальной тугоухости: специальность 03.02.07 «Генетика»: диссертация на соискание ученой степени кандидата медицинских наук. 2019:141.; Shearer A.E., Kolbe D.L., Azaiez H. et al. Copy number variants are a common cause of non-syndromic hearing loss. Genome Med. 2014 May 22;6(5):37. doi:10.1186/gm554.; Monani U.R., Lorson C.L., Parsons D.W. et al. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet. 1999 Jul;8(7):1177-83. doi:10.1093/hmg/8.7.1177.
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2Academic Journal
المؤلفون: A. M. Cherdonova, T. V. Borisova, V. G. Pshennikova, F. M. Teryutin, L. A. Klarov, A. A. Nikanorova, G. P. Romanov, A. V. Solovyev, S. A. Fedorova, N. A. Barashkov, А. М. Чердонова, Т. В. Борисова, В. Г. Пшенникова, Ф. М. Терютин, Л. А. Кларов, А. А. Никанорова, Г. П. Романов, А. В. Соловьев, С. А. Федорова, Н. А. Барашков
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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Genes 2023; 14(2): 335. https://doi.org/10.3390/genes14020335; Smits J.J., de Bruijn S.E., Lanting C.P., et al. Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant. Hum. Genet. 2022; 141: 465–484. doi:10.1007/s00439-021-02336-6.; Chao J.R., Chattaraj P., Munjal t. et al. SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct. BMC Med Genet 2019; 20 (1): 118. https://doi.org/10.1186/s12881-019-0853-4; https://www.medgen-journal.ru/jour/article/view/2328
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3Academic Journal
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
وصف الملف: application/pdf
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Proc Natl Acad Sci USA. 2008; 105(9):3244-9. doi:10.1073/pnas.0707265105.; Hutchin T., Haworth I., Higashi K. et al. A molecular basis for human hypersensitivity to aminoglycoside antibiotics. Nucleic Acids Res. 1993; 21(18):4174-9. doi:10.1093/nar/21.18.4174.; Guan M.X., Fischel-Ghodsian N., Attardi G. Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation. Hum Mol Genet. 1996 ;5(7):963-71. doi:10.1093/hmg/5.7.963.; Hamasaki K., Rando R.R. Specific binding of aminoglycosides to a human rRNA construct based on a DNA polymorphism which causes aminoglycoside-induced deafness. Biochemistry. 1997; 36(40):12323-8. doi:10.1021/bi970962r.; Greber B.J., Bieri P., Leibundgut M. et al. Ribosome. The complete structure of the 55S mammalian mitochondrial ribosome. Science. 2015; 348(6232):303-8. doi:10.1126/science.aaa3872.; Rovcanin B., Jancic J., Samardzic J. et al. In silico model of mtDNA mutations effect on secondary and 3D structure of mitochondrial rRNA and tRNA in Leber’s hereditary optic neuropathy. Exp Eye Res. 2020; 201:108277. doi:10.1016/j.exer.2020.108277.; Kalapala S.K., Hobbie S.N., Böttger E.C., Shcherbakov D. Mutation K42R in ribosomal protein S12 does not affect susceptibility of Mycobacterium smegmatis 16S rRNA A-site mutants to 2-deoxystreptamines. PLoS One. 2010; 5(8):e11960. doi:10.1371/journal.pone.0011960.; O’Sullivan M., Rutland P., Lucas D. Mitochondrial m.1584A 12S m62A rRNA methylation in families with m.1555A>G associated hearing loss. Hum Mol Genet. 2015; 24(4):1036-44. doi:10.1093/hmg/ddu518.; Пшенникова В.Г., Терютин Ф.М., Барашков Н.А., и др. Клинико-аудиологический и генеалогический анализ случаев нарушения слуха в Республике Бурятия. Якутский медицинский журнал. 2020.; 4:44-49.; Pshennikova V.G., Teryutin F.M., Cherdonova A.M. et al. 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/genes14051001.; 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. Incidencia de las mutaciones A1555G en el ADN mitocondrial y 35delG en el gen GJB2 (conexina 26) en familias con hipoacusia neurosensorial postlocutiva no sindrómica en Cantabria [Incidence of A1555G mutations in the mitochondrial DNA and 35delG in the GJB2 gene (connexin-26) in families with late onset non-syndromic sensorineural hearing loss from Cantabria]. Acta Otorrinolaringol Esp. 2002; 53(8):563-71. Spanish. doi:10.1016/s0001-6519(02)78349-0.; Gallo-Terán J., Arellano B., Morales-Angulo C. et al. Prevalencia de la mutación A1555G en el ADN mitocondrial en pacientes con patología auditiva o vestibular debida a la ototoxicidad de los aminoglucósidos [Prevalence of the A1555G mutation in the mitochondrial DNA in patients with cochlear or vestibular damage due to aminoglycoside-induced ototoxicity]. Acta Otorrinolaringol Esp. 2004; 55(5):212-7. Spanish. doi:10.1016/s0001-6519(04)78511-8.; Morales Angulo C., Gallo-Terán J., Señaris B. et al. Prevalencia de la mutación A1555G del gen MTRNR1 en pacientes con hipoacusia postlocutiva sin antecedentes familiares de sordera [Prevalence of the A1555G MTDNA mutation in sporadic hearing-impaired patients without known history of aminoglycoside treatment]. Acta Otorrinolaringol Esp. 2011; 62(2):83-6. Spanish. doi:10.1016/j.otorri.2010.08.003.; Torroni A., Cruciani F., Rengo C. et al. The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness. Am J Hum Genet. 1999; 65(5):1349-58. doi:10.1086/302642.; https://www.medgen-journal.ru/jour/article/view/2329
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4Academic Journal
المؤلفون: T. V. Borisova, N. N. Gotovtsev, N. A. Barashkov, M. V. Pak, M. P. Alekseyeva, N. N. Innokent'yeva, I. V. Morozov, A. A. Bondar', K. S. Loskutova, A. V. Solov'yev, V. G. Pshennikova, A. M. Rafailov, S. N. Lekhanova, S. A. Fedorova, Т. В. Борисова, Н. Н. Готовцев, Н. А. Барашков, М. В. Пак, М. П. Алексеева, Н. Н. Иннокентьева, И. В. Морозов, А. А. Бондарь, К. С. Лоскутова, А. В. Соловьев, В. Г. Пшенникова, А. М. Рафаилов, С. Н. Леханова, С. А. Федорова
المصدر: Medical Genetics; Том 19, № 7 (2020); 105-106 ; Медицинская генетика; Том 19, № 7 (2020); 105-106 ; 2073-7998
مصطلحات موضوعية: ppa, co-evolution, phylogenetic analysis, Yakutia, atpA mutY, ppa genes, коэволюция, филогенетический анализ, Якутия, гены atpA, mutY
وصف الملف: application/pdf
Relation: https://www.medgen-journal.ru/jour/article/view/1466/1108; https://www.medgen-journal.ru/jour/article/view/1466