From a reproductive specialist to a pulmonologist, or a Long path to diagnosis: clinical observations ; От репродуктолога к пульмонологу, или Долгий путь к диагнозу: клинические наблюдения

Authors: V. B. Chernykh, Yu. L. Melyanovskaya, T. A. Kyian, E. E. Bragina, O. A. Solovova, E. I. Kondratyeva, В. Б. Черных, Ю. Л. Мельяновская, Т. А. Киян, Е. Е. Брагина, О. А. Соловова, Е. И. Кондратьева

Contributors: The study was carried out as part of the research project “Complex analysis of genophenotypic correlations in cystic fibrosis and primary ciliary dyskinesia” (registration number 122032300396-1), Исследование выполнено в рамках Научно-исследовательской работы «Комплексный анализ генофенотипических корреляций при муковисцидозе и первичной цилиарной дискинезии» (регистрационный номер 122032300396-1)

Source: PULMONOLOGIYA; Том 35, № 2 (2025); 269-275 ; Пульмонология; Том 35, № 2 (2025); 269-275 ; 2541-9617 ; 0869-0189

Subject Terms: полноэкзомное секвенирование, cilium, flagellum, spermatogenesis, asthenoteratozoospermia, primary ciliary dyskinesia, whole exome sequencing, ресничка, жгутик, сперматогенез, астенотератозооспермия, первичная цилиарная дискинезия

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Relation: https://journal.pulmonology.ru/pulm/article/view/4691/3772; https://journal.pulmonology.ru/pulm/article/downloadSuppFile/4691/3264; https://journal.pulmonology.ru/pulm/article/downloadSuppFile/4691/3279; https://journal.pulmonology.ru/pulm/article/downloadSuppFile/4691/3280; World Health Organization. WHO laboratory manual for the examination and processing of human semen. World Health Organization; 2010. Available at: https://andrologylab.gr/wp-content/uploads/2020/09/WHO-Manual-2010.pdf; Брагина Е.Е., Арифулин Е.А., Сенченков Е.П. Генетически обусловленные нарушения подвижности сперматозоидов человека. Онтогенез. 2016; 47 (5): 271–286. Доступно на: http://ontogenez.org/archive/2016/5/Bragina_2016_5.pdf; Кондратьева Е.И., Авдеев С.Н., Мизерницкий Ю.Л. и др. Первичная цилиарная дискинезия : обзор проекта клинических рекомендаций 2022 года. Пульмонология. 2022; 32 (4): 517–538. DOI:10.18093/0869-0189-2022-32-4-517-538.; Aprea I., Nöthe-Menchen T., Dougherty G.W. et al. Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system. Mol. Hum. Reprod. 2021; 27 (3): gaab009. DOI:10.1093/molehr/gaab009.; Черных В.Б., Соловова О.А. Мужское бесплодие: взгляд генетика на актуальную проблему. Consilium Medicum. 2019; 21 (7): 19–24. DOI:10.26442/20751753.2019.7.190517.; Derichs N., Sanz J., Von Kanel T. et al. Intestinal current measurement for diagnostic classification of patients with questionable cystic fibrosis: validation and reference data. Thorax. 2010; 65 (7): 594–599. DOI:10.1136/thx.2009.125088.; Sedova A.O., Shtaut M.I., Bragina E.E. et al. Comprehensive semen examination in patients with pancreatic-sufficient and pancreatic-insufficient cystic fibrosis. Asian J. Androl. 2023; 25 (5): 591–597. DOI:10.4103/aja2022115.; Репина С.А., Красовский С.А., Сорокина Т.М. и др. Патогенный вариант 3849+10kbC>T гена CFTR как главный предиктор сохранения фертильности у мужчин с муковисцидозом. Генетика. 2019; 55 (12): 1481–1486. DOI:10.1134/S0016675819120105.; Репина С.А., Красовский С.А., Шмарина Г.В. и др. Состояние репродуктивной системы и алгоритм решения вопроса деторождения у мужчин с муковисцидозом. Альманах клинической медицины. 2019; 47 (1): 26–37. DOI:10.18786/2072-0505-2019-47-001.; Newman L., Chopra J., Dossett C. et al. The impact of primary ciliary dyskinesia on female and male fertility : a narrative review. Hum. Reprod. Update. 2023; 29 (3): 347–367. DOI:10.1093/humupd/dmad003.; https://journal.pulmonology.ru/pulm/article/view/4691

Availability: https://journal.pulmonology.ru/pulm/article/view/4691
https://doi.org/10.18093/0869-0189-2025-35-2-269-275

X-linked frontometaphyseal dysplasia 1 ; Х-сцепленная фронтометафизарная дисплазия 1-го типа

Authors: O. Ch. Mazur, S. V. Baiko, A. V. Kilchevsky, E. P. Mikhalenko, S. L. Morozov, Yu. S. Stankevich, T. S. Kursova, Yu. A. Poleshchuk, О. Ч. Мазур, С. В. Байко, А. В. Кильчевский, Е. П. Михаленко, С. Л. Морозов, Ю. С. Станкевич, Т. С. Курсова, Ю. А. Полещук

Source: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 69, № 3 (2024); 110-117 ; Российский вестник перинатологии и педиатрии; Том 69, № 3 (2024); 110-117 ; 2500-2228 ; 1027-4065

Subject Terms: полноэкзомное секвенирование, frontometaphyseal dysplasia type 1, facial dysmorphism, congenital anomalies of the urinary tract and kidneys, congenital heart disease, bone dysplasia, whole exome sequencing, фронтометафизарная дисплазия 1-го типа, лицевой дисморфизм, врожденные аномалии мочевых путей и почек, врожденный порок сердца, костная дисплазия

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Relation: https://www.ped-perinatology.ru/jour/article/view/2012/1502; Gorlin R.J., Cohen M.M. Jr. Frontometaphyseal dysplasia. A Оnew syndrome. Am J Dis Child 1969; 118(3): 487-494. DOI:10.1001/archpedi.1969.02100040489014; Robertson S.P., Jenkins Z.A., Morgan T., Adès L., Aftimos S., Boute O. et al. Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. Am J Med Genet A 2006; 140(16): 1726-1736. DOI:10.1002/ajmg.a.31322; Wade E.M., Jenkins Z.A., Morgan T., Gimenez G., Gibson H., Peng H. et al. Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia. Am J Med Genet A 2021; 185(12): 3675-3682. DOI:10.1002/ajmg.a.62424.; FLNA filamin A. https://www.ncbi.nlm.nih.gov/gene/2316 / Ссылка активна на 08.01.2024 г.; Wade E.M., Halliday B.J., Jenkins Z.A., O’Neill A.C., Robertson S.P. The X-linked filaminopathies: Synergistic insights from clinical and molecular analysis. Hum Mutat 2020; 41(5): 865-883. DOI:10.1002/humu.24002; Iqbal N.S., Jascur T.A., Harrison S.M., Edwards A.B., Smith L.T., Choi E.S. et al. Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene. BMC Med Genet 2020; 21(1): 38. DOI:10.1186/s12881-020-0973-x; Robertson S.P. Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. Eur J Hum Genet 2007; 15(1): 3-9. DOI:10.1038/sj.ejhg.5201654; Kim J., Lee D.W., Jang D.H. Case Report: Pansynostosis, Chiari I Malformation and Syringomyelia in a Child With Frontometaphyseal Dysplasia 1. Front Pediatr 2021; 9: 574402. DOI:10.3389/fped.2021.574402; Ye Q., Zhao J., Chang G., Wang Y., Ding Y., Li J. et al. [Frontometaphyseal dysplasia 1 caused by variant of FLNA gene in a case]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021; 38(4): 355-358. (Chinese). DOI:10.3760/ cma.j.cn511374-20200523-00374; Kim J., Lee D.W., Jang J.H., Kim M., Yim J., Jang D.H. Case Report: Co-occurrence of Duchenne Muscular Dystrophy and Frontometaphyseal Dysplasia 1. Front Pediatr 2021; 9: 628190. DOI:10.3389/fped.2021.628190; Yapijakis C., Vylliotis A., Angelopoulou A., Adamopoulou M., Chrousos G.P., Voumvourakis C. Phenotype and Genotype Study in a Case of Frontometaphyseal Dysplasia 1. Adv Exp Med Biol 2021; 1339: 319-323. DOI:10.1007/978-3-030- 78787-5_38; Robertson S.P., Twigg S.R., Sutherland-Smith A.J., Biancalana V., Gorlin R.J., Horn D. et al. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet 2003; 33(4): 487-491. DOI:10.1038/ng1119; Wade E.M., Daniel P.B., Jenkins Z.A., McInerney-Leo A., Leo P., Morgan T. et al. Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia. Am J Hum Genet 2016; 99: 392-406. DOI:10.1016/j.ajhg.2016.05.024; Frontometaphyseal dysplasia. https://medlineplus.gov/genetics/ condition/frontometaphyseal-dysplasia/#inheritance / Ссылка активна на 08.01.2024 г.; Robertson S. X-Linked Otopalatodigital Spectrum Disorders. 2005 Nov 30 [Updated 2019 Oct 3]. In: M.P. Adam, J. Feldman, G.M. Mirzaa et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https://www.ncbi.nlm.nih.gov/books/ NBK1393.; Nakamura F., Stossel T.P., Hartwig J.H. The filamins: organizers of cell structure and function. Cell Adh Migr 2011; 5(2): 160-169. DOI:10.4161/cam.5.2.14401; Baldassarre M., Razinia Z., Burande C.F., Lamsoul I., Lutz P.G., Calderwood D.A. Filamins regulate cell spreading and initiation of cell migration. PLoS One 2009; 4(11): e7830. DOI:10.1371/journal.pone.0007830; Zhou J., Kang X., An H., Lv Y., Liu X. The function and pathogenic mechanism of filamin A. Gene 2021; 784: 145575. DOI:10.1016/j.gene.2021.145575; Frontometaphyseal dysplasia 1; FMD 1. https://www.omim.org/entry/305620?search=FMD1&highlight=fmd1 / Ссылка активна на 31.01.2024 г.; Gorlin R.J., Winter R.B. Frontometaphyseal dysplasia — evidence for X-linked inheritance. Am J Med Genet 1980; 5(1): 81-84. DOI:10.1002/ajmg.1320050111; Glass R.B., Rosenbaum K.N. Frontometaphyseal dysplasia: neonatal radiographic diagnosis. Am J Med Genet 1995; 57(1): 1-5. DOI:10.1002/ajmg.1320570102; Morava E., Illés T., Weisenbach J., Kárteszi J., Kosztolányi G. Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families. Am J Med Genet A 2003; 116A(3): 272-277. DOI:10.1002/ ajmg.a.10831; Dissanayake R., Senanayake M.P., Fernando J., Robertson S.P., Dissanayake V.H.W., Sirisena N.D. Frontometaphyseal dysplasia 1 in a patient from Sri Lanka. Am J Med Genet A 2021; 185(4): 1317-1320. DOI:10.1002/ajmg.a.62058; Morava E., Illés T., Weisenbach J., Kárteszi J., Kosztolányi G. Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families. Am J Med Genet A 2003; 116A(3): 272-277. DOI:10.1002/ajmg.a.10831; Medlar R.C., Crawford A.H. Frontometaphyseal dysplasia presenting as scoliosis. J Bone Joint Surg Am 1978; 60(3): 392-394.; Kanemura T., Orii T., Ohtani M. Frontometaphyseal dysplasia with congenital urinary tract malformations. Clin Genet 1979; 16(6): 399-404. DOI:10.1111/j.1399-0004.1979.tb01348.x; Giuliano F., Collignon P., Paquis-Flucklinger V., Bardot J., Philip N. A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation. Am J Med Genet A 2005; 132A(2): 222. DOI:10.1002/ajmg.a.30396; Zenker M., Nährlich L., Sticht H., Reis A., Horn D. Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. Am J Med Genet A 2006; 140(10): 1069-1073. DOI:10.1002/ajmg.a.31213; Narang A., Uppilli B., Vivekanand A., Naushin S., Yadav A., Singhal K. et al. Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in India. Hum Mutat 2020; 41(11): 1833-1847. DOI:10.1002/humu.24102; Ehrenstein T., Mäurer J., Liokumowitsch M., Mack M., Felix R., Bier J. CT and MR findings in frontometaphyseal dysplasia. J Comput Assist Tomogr 1997; 21(2): 218-220. DOI:10.1097/00004728-199703000-00009

Availability: https://www.ped-perinatology.ru/jour/article/view/2012
https://doi.org/10.21508/1027-4065-2024-69-3-110-117

SYNPO2L gene rare variants in the development of early myocardial infarction ; Редкие генетические варианты SYNPO2L при раннем инфаркте миокарда

Authors: V. V. Miroshnikova, K. V. Dracheva, L. G. Danilov, M. Yu. Donnikov, A. S. Vorobev, A. V. Morozkina, A. D. Izumchenko, A. V. Kusakin, Yu. А. Eismont, L. V. Kovalenko, I. A. Urvantseva, O. S. Glotov, S. N. Pchelina, В. В. Мирошникова, К. В. Драчева, Л. Г. Данилов, М. Ю. Донников, А. С. Воробьев, А. В. Морозкина, А. Д. Изюмченко, А. В. Кусакин, Ю. А. Эйсмонт, Л. В. Коваленко, И. А. Урванцева, О. С. Глотов, С. Н. Пчелина

Contributors: The study was carried out with financial support from the Ugra Scientific and Technological Development Foundation under scientific project No. 2023-126-05.

Source: Medical Genetics; Том 23, № 6 (2024); 20-28 ; Медицинская генетика; Том 23, № 6 (2024); 20-28 ; 2073-7998

Subject Terms: SYNPO2L, whole exome sequencing, полноэкзомное секвенирование

File Description: application/pdf

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Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. Nature. 2015;518(7537), 102–106. https://doi.org/10.1038/nature13917; Jeon Y., Jeon S., Choi W.H., et al. Genome-wide analyses of earlyonset acute myocardial infarction identify 29 novel loci by whole genome sequencing. Human Genetics. 2023;142(2), 231-243. https://doi.org/10.1007/s00439-022-02495-0; Badescu M.C., Butnariu L.I., Costache A.D., et al. Acute Myocardial Infarction in Patients with Hereditary Thrombophilia—A Focus on Factor V Leiden and Prothrombin G20210A. Life. 2023;13(6), 1371. doi:10.3390/life13061371; Отева Э.А., Николаева А.А., Масленников А.Б. и др. Особенности липидно-гормональных взаимосвязей у молодых мужчин, перенесших инфаркт миокарда (по материалам семейных регистров в Новосибирске и Бишкеке). Терапевтический архив. 1994;66(9), 38-41.; Brænne I., Reiz B., Medack A. et al. Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia. BMC Cardiovasc Disord. 2014;14, 108. https://doi. org/10.1186/1471-2261-14-108; Lee C., Cui Y., Song J., et al. Effects of familial hypercholesterolemia-associated genes on the phenotype of premature myocardial infarction. Lipids Health Dis. 2019;18;1-8, 95. https://doi.org/10.1186/ s12944-019-1042-3; Khattab M.N., Abbas A., Alhalabi N., Nouh G. Myocardial Infarction with ST Segment Elevation in 19-Year-Old Adult with Multiple Genetic Mutations: A Case Report. 2023;5(1):1044.; Cui Y., Li S., Zhang F., et al. Prevalence of familial hypercholesterolemia in patients with premature myocardial infarction. Clinical Cardiology, 2019;42(3), 385-390. https://doi.org/10.1002/clc.23154; Brænne I., Kleinecke M., Reiz B. et al. Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction. 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Genome-wide analyses identify SCN5A as a susceptibility locus for premature atrial contraction frequency. Iscience. 2022;25(10). https://doi. org/10.1016/j.isci.2022.105210; Lubitz S.A, Brody J.A, Bihlmeyer N.A, et al. Whole Exome Sequencing in Atrial Fibrillation. PLo S genetics. 2016;12(9):e1006284. https://doi.org/10.1371/journal.pgen.1006284; Schmidt A.F., Bourfiss M., Alasiri A., et al. Druggable proteins influencing cardiac structure and function: Implications for heart failure therapies and cancer cardiotoxicity. Science advances. 2023;9(17), eadd4984. doi:10.1126/sciadv.add4984; Ning C., Fan L., Jin M. et al. Genome-wide association analysis of left ventricular imaging-derived phenotypes identifies 72 risk loci and yields genetic insights into hypertrophic cardiomyopathy. Nat Commun. 2023;14,7900. https://doi.org/10.1038/s41467-023-43771-5; Brugada R., Tapscott T., Czernuszewicz G.Z., et al. Identification of a genetic locus for familial atrial fibrillation. N Engl J Med. 1997;336(13):905–911. DOI:10.1056/NEJM199703273361302; Clausen A.G., Vad O.B., Andersen J.H., Olesen M.S. Loss-offunction variants in the SYNPO2L gene are associated with atrial fibrillation. Frontiers in cardiovascular medicine. 2021;8, 650667. https://doi.org/10.3389/fcvm.2021.650667; Ruddox V., Sandven I., Munkhaugen J.,. et al. Atrial fibrillation and the risk for myocardial infarction, all-cause mortality and heart failure: a systematic review and meta-analysis. European journal of preventive cardiology. 2017;24(14),1555-1566. https://doi. org/10.1177/204748731771576; Mishra A., Malik R., Hachiya T. et al. Stroke genetics informs drug discovery and risk prediction across ancestries. Nature. 2022;611(7934), 115-123. https://doi.org/10.1038/s41586-022-05165-3; Kraja A.T., Cook J.P., Warren H.R., et al. New blood pressure– associated loci identified in meta-analyses of 475 000 individuals. Circulation: Cardiovascular Genetics. 2017;10(5), e001778. DOI:10.1161/CIRCGENETICS.117.001778; Wang F., Liu Y., Liao H., et al. Genetic variants on SCN5A, KCNQ1, and KCNH2 in patients with ventricular arrhythmias during acute myocardial infarction in a Chinese population. Cardiology. 2020;145(1), 38-45. https://doi.org/10.1159/000502833; Olszak-Waśkiewicz M., Dziuk M., Kubik L., Kaczanowski R., Kucharczyk K. Novel KCNQ1 mutations in patients after myocardial infarction. Cardiology Journal. 2008;15(3), 252-260.

Availability: https://www.medgen-journal.ru/jour/article/view/2486
https://doi.org/10.25557/2073-7998.2024.06.20-28

Xq12q13.2 duplication detected in a child in selective exome screening ; Дупликация Xq12q13.2, выявленная у ребёнка в рамках селективного экзомного скрининга

Authors: A. A. Dokshukina, Je. Shubina, D. N. Maslennikov, I. O. Sadelov, E. R. Tolmacheva, S. V. Ionushene, T. A. Bairova, L. V. Rychkova, D. Yu. Trofimov, D. N. Degtyarev, А. А. Докшукина, Е. Шубина, Д. Н. Масленников, И. О. Саделов, Е. Р. Толмачева, С. В. Ионушене, Т. А. Баирова, Л. В. Рычкова, Д. Ю. Трофимов, Д. Н. Дегтярев

Contributors: Работа выполнена в рамках Соглашения с Минздравом России № 056-02-2024-214 от 15.02.2024.

Source: Acta Biomedica Scientifica; Том 9, № 4 (2024); 61-68 ; 2587-9596 ; 2541-9420

Subject Terms: генетические заболевания, selective screening, whole exome sequencing, chromosomal microarray analysis, phenotype assessment, genetic diseases, селективный скрининг, полноэкзомное секвенирование, хромосомный микроматричный анализ, оценка фенотипа

File Description: application/pdf

Relation: https://www.actabiomedica.ru/jour/article/view/4946/2858; Lupski JR. Structural variation mutagenesis of the human genome: Impact on disease and evolution. Environ Mol Mutagen. 2015; 56(5): 419-436. doi:10.1002/em.21943; Yuan H, Shangguan S, Li Z, Luo J, Su J, Yao R, et al. CNV profiles of Chinese pediatric patients with developmental disorders. Genet Med. 2021; 23(4): 669-678. doi:10.1038/s41436-020-01048-y; Harel T, Lupski JR. Genomic disorders 20 years on – Mechanisms for clinical manifestations. Clin Genet. 2018; 93(3): 439-449. doi:10.1111/cge.13146; 100,000 Genomes Project Pilot Investigators; Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, et al. 100,000 genomes pilot on rare-disease diagnosis in health care – Preliminary report. N Engl J Med. 2021; 385(20): 1868-1880. doi:10.1056/NEJMoa2035790; Li YR, Glessner JT, Coe BP, Li J, Mohebnasab M, Chang X, et al. Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations. Nat Commun. 2020; 11(1): 255. doi:10.1038/s41467-019-13624-1; Gabrielaite M, Torp MH, Rasmussen MS, Andreu-Sánchez S, Vieira FG, Pedersen CB, et al. A comparison of tools for copy-number variation detection in germline whole exome and whole genome sequencing data. Cancers. 2021; 13(24): 6283. doi:10.3390/ cancers13246283; Louw N, Carstens N, Lombard Z; for DDD-Africa as members of the H3Africa Consortium. Incorporating CNV analysis improves the yield of exome sequencing for rare monogenic disorders – An important consideration for resource-constrained settings. Front Genet. 2023; 14: 1277784. doi:10.3389/fgene.2023.1277784; Померанцева Е.А., Докшукина А.А., Дегтярева А.В., Масленников Д.Н., Трофимов Д.Ю., Дегтярев Д.Н. Критерии оценки фенотипа новорожденного для формирования группы повышенного риска генетических заболеваний. Неонатология: новости, мнения, обучение. 2022; 10(4): 47-53. doi:10.33029/2308-2402-2022-10-4-47-53; Petit F, Andrieux J, Holder-Espinasse M, Bouquillon S, Pennaforte T, Storme L, et al. Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic hernia. Eur J Med Genet. 2011; 54(5): e525-e527. doi:10.1016/j.ejmg.2011.06.011; Krepischi ACV, Villela D, da Costa SS, Mazzonetto PC, Schauren J, Migliavacca MP, et al. Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil. Sci Rep. 2022; 12(1): 15184. doi:10.1038/s41598-022-19274-6; Лебедев И.Н., Шилова Н.В., Юров И.Ю., Малышева О.В., Твеленева А.А., Миньженкова М.Е., и др. Рекомендации Российского общества медицинских генетиков по хромосомному микроматричному анализу. Медицинская генетика. 2023; 22(10): 3-47. doi:10.25557/20737998.2023.10.3-47; Levy B, Wapner R. Prenatal diagnosis by chromosomal microarray analysis. Fertil Steril. 2018; 109(2): 201-212. doi:10.1016/j.fertnstert.2018.01.005; Teles TM, Paula CM, Ramos MG, Costa HB, Andrade CR, Coxir SA, et al. Frequency of chromosomal abnormalities in products of conception. Rev Bras Ginecol Obstet. 2017; 39(03): 110-114. doi:10.1055/s-0037-1600521; Genovese A, Butler MG. Clinical assessment, genetics, and treatment approaches in autism spectrum disorder (ASD). Int J Mol Sci. 2020; 21(13): 4726. doi:10.3390/ijms21134726; Bedeschi MF, Novelli A, Bernardini L, Parazzini C, Bianchi V, Torres B, et al. Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene. Am J Med Genet A. 2008; 146A: 1718-1724. doi:10.1002/ajmg.a.32365; https://www.actabiomedica.ru/jour/article/view/4946

Availability: https://www.actabiomedica.ru/jour/article/view/4946
https://doi.org/10.29413/ABS.2024-9.4.7

A novel nonsense mutation c.1121G>A (p.Trp374*) in the CLIC5 gene is the main cause of the juvenile autosomal recessive form of deafness (DFNB103) in the Arctic regions of Yakutia

Source: Nauchno-prakticheskii zhurnal «Medicinskaia genetika». :36-48

Subject Terms: 2. Zero hunger, аутосомно-рецессивная глухота, Арктика, type 103 (DFNB103), CLIC5 gene, 3. Good health, whole exome sequencing (WES), Республика Саха (Якутия), Arctic, полноэкзомное секвенирование (WES), тип 103 (DFNB103), Republic of Sakha (Yakutia), ген CLIC5, autosomal recessive deafness

Access URL: https://www.medgen-journal.ru/jour/article/download/732/456

Juvenile amyotrophic lateral sclerosis type 4: case report and review ; Ювенильный боковой амиотрофический склероз 4-го типа: клиническое наблюдение и обзор литературы

Authors: G. E. Rudenskaya, S. S. Nikitin, O. L. Shatokhina, O. A. Shchagina, Г. Е. Руденская, С. С. Никитин, О. Л. Шатохина, О. А. Щагина

Contributors: The research was carried out within the state assignment of Ministry of Science and Higher Education of Russia for Research Centre for Medical Genetics with usage of RCMG “Genome” NGS Core Unit., Работа выполнена в рамках государственного задания Минобрнауки России для ФГБНУ «Медико-генетический научный центр им. акад. Н.П. Бочкова» с применением оборудования Центра коллективного пользования «Геном» ФГБНУ «Медико-генетический научный центр им. акад. Н.П. Бочкова».

Source: Neuromuscular Diseases; Том 12, № 3 (2022); 52-58 ; Нервно-мышечные болезни; Том 12, № 3 (2022); 52-58 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2022-12-3

Subject Terms: клиническое разнообразие, SETX gene, whole‑exome sequencing, novel mutation, electroneuromyography, clinical variability, ген SETX, полноэкзомное секвенирование, новая мутация, электронейромиография

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Relation: https://nmb.abvpress.ru/jour/article/view/500/329; OMIM (On-line Mendelian Inheritance in Man). Available at: https://www.ncbi.nlm.nih.gov/omim.; Washington University Neuromuscular Disease Center. Available at: https://neuromuscular.wustl.edu/.; Liu Z., Lin H., Wei Q. et al. Genetic spectrum and variability in Chinese patients with amyotrophic lateral sclerosis. Aging Dis 2019;10(6):1199–206. DOI:10.14336/AD.2019.0215; Myrianthopoulos N.C., Lane M.H., Silberberg D.H., Vincent B.L. Nerve conduction and other studies in families with Charcot–Marie–Tooth disease. Brain 1964;87:589–608. DOI:10.1093/brain/87.4.589; Chance P.F., Rabin B.A., Ryan S.G. et al. Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34. Am J Hum Genet 1998;62:633–40. DOI:10.1086/301769; Rabin B.A., Griffin J.W., Crain B.J. et al. Autosomal dominant juvenile amyotrophic lateral sclerosis. Brain 1999;122:1539–50. DOI:10.1093/brain/122.8.1539; De Jonghe P., Auer-Grumbach M., Irobi J. et al. Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder? Brain 2002;125(Pt 6):1320–5. DOI:10.1093/brain/awf127; Chen Y.-Z., Bennett C.L., Huynh H.M. et al. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet 2004;74:1128–35. DOI:10.1086/421054; Bennett C., Dastidar S., Ling S. et al. Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients. Acta Neuropathol 2018;136(3):425–43. DOI:10.1007/s00401-018-1852-9; Connolly O., Le Gal L., McCluskey G. et al. A systematic review of genotype-phenotype correlation across cohorts having causal mutations of different genes in ALS. J Pers Med 2020;10(3):58. DOI:10.3390/jpm10030058; Kannan A., Cuartas J., Gangwani P. et al. Mutation in senataxin alters the mechanism of R-loop resolution in amyotrophic lateral sclerosis 4. Brain 2022;awab464. DOI:10.1093/brain/awab464; HGMD (The Human Gene Mutation Database). Available at: https://portal.biobaseinternational.com/.; Руденская Г.Е., Куркина М.В., Захарова Е.Ю. Атаксии с окуломоторной апраксией: клинико-генетические характеристики и ДНК-диагностика. Журнал неврологии и психиатрии им. С.С. Корсакова 2012;112(10):58–63.; Avemaria F., Lunetta C., Tarlarini C. et al. Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression. Amyotroph Lateral Scler 2011;12(3):228–30. DOI:10.3109/17482968.2011.566930; Rudnik-Schöneborn S., Arning L., Epplen J.T., Zerres K. SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy. Neuromuscul Disord 2012;22(3):258–62. DOI:10.1016/j.nmd.2011.09.00; Taniguchi T., Hokezu Y., Okada T. et al. Amyotrophic lateral sclerosis (ALS) 4 family misdiagnosed as hereditary spastic paraplegia: a case report. Rinsho Shinkeigaku 2017;57(11):685–90. DOI:10.5692/clinicalneurol.cn-000996; Ma L., Shi Y., Chen Z. et al. A novel SETX gene mutation associated with juvenile amyotrophic lateral sclerosis. Brain Behav 2018;8:e01066. DOI:10.1002/brb3.1066; Lei L., Chen H., Lu Y. et al. Unusual electrophysiological findings in a Chinese ALS 4 family with SETX-L389S mutation: a three-year follow-up. J Neurol 2021;268(3):1050–8. DOI:10.1007/s00415-020-10246-2; Kitao R., Honma Y., Hashiguchi A. et al. A case of motor and sensory polyneuropathy and respiratory failure with novel heterozygous mutation of the senataxin gene. Rinsho Shinkeigaku 2020;60(7):466–72. DOI:10.5692/clinicalneurol.60.cn-001415; Hadjinicolaou A., Ngo K.J., Conway D.Y. et al. De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy. Acta Neuropathol Commun 2021;9(1):194. DOI:10.1186/s40478-021-01277-5; Hirano M., Quinzii C., Mitsumoto H. et al. Senataxin mutations and amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2011;12(3):223–7. DOI:10.3109/17482968.2010.545952; Saiga T., Tateishi T., Torii T. et al. Inflammatory radiculoneuropathy in an ALS4 patient with a novel SETX mutation. J Neurol Neurosurg Psychiatry 2012;83(7):763, 764. DOI:10.1136/jnnp-2012-302281; Tripolszki K., Török D., Goudenège D. et al. High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis. Brain Behav 2017;7(4):e00669. DOI:10.1002/brb3.669; Beppu S., Ikenaka K., Yabumoto T. et al. A case of sporadic amyotrophic lateral sclerosis (ALS) with senataxin (SETX) gene variant. Rinsho Shinkeigaku 2022;62(3):205–10. DOI:10.5692/clinicalneurol.cn-001675; Grunseich C., Patankar A., Amaya J. et al. Clinical and molecular aspects of senataxin mutations in amyotrophic lateral sclerosis 4. Ann Neurol 2020;87(4):547–55. DOI:10.1002/ana.25681; Rafiq M.K., Lee E., Bradburn M. et al. Creatine kinase enzyme level correlates positively with serum creatinine and lean body mass, and is a prognostic factor for survival in amyotrophic lateral sclerosis. Eur J Neurol 2016;23:1071–8. DOI:10.1111/ene.12995; Zhao Z., Chen W., Wu Z. et al. A novel mutation in the senataxin gene identified in a Chinese patient with sporadic amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2009;10(2):118–22. DOI:10.1080/17482960802572673; Andreini I., Moro F., Africa L.M. et al. Rare phenotype of ALS4 associated with heterozygous missense mutation c.5842A>G/p. M1948V in helicase domain of SETX gene. Amyotroph Lateral Scler 2020;21(3–4):312, 313. DOI:10.1080/21678421.2020.1740271; Kenna K.P., McLaughlin R.L., Byrne S. et al. Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing. J Med Genet 2013;50(11):776–83. DOI:10.1136/jmedgenet-2013-101795; https://nmb.abvpress.ru/jour/article/view/500

Availability: https://nmb.abvpress.ru/jour/article/view/500
https://doi.org/10.17650/2222-8721-2022-12-3-52-58

Evaluation of the effectiveness of next generation sequencing in the clinical practice of the medical genetic consultation in Khanty-Mansi region ; Оценка эффективности секвенирования нового поколения в клинической практике медико-генетической консультации в ХМАО-Югре

Authors: M. Yu. Donnikov, R. A. Illarionov, T. A. Izotova, L. N. Kolbasin, L. V. Kovalenko, М. Ю. Донников, Р. А. Илларионов, Т. А. Изотова, Л. Н. Колбасин, Л. В. Коваленко

Source: Medical Genetics; Том 21, № 9 (2022); 38-40 ; Медицинская генетика; Том 21, № 9 (2022); 38-40 ; 2073-7998

Subject Terms: NGS, whole exome sequencing, полноэкзомное секвенирование

File Description: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/2145/1612; Воинова В.Ю., Николаева Е.А., Щербакова Н.В., Яблонская М.И. Высокопроизводительное секвенирование ДНК для идентификации генетически детерминированных заболеваний в педиатрической практике. Российский вестник перинатологии и педиатрии. 2019;64(1):103-109. https://doi.org/10.21508/1027-4065-2019-64-1-103-109; Суспицын Е.Н., Тюрин В.И., Имянитов Е.Н., Соколенко А.П. Полноэкзомное секвенирование: принципы и диагностические возможности. Педиатрия. 2016;7(4):142-146. https://doi.org/10.17816/PED74142-146

Availability: https://www.medgen-journal.ru/jour/article/view/2145
https://doi.org/10.25557/2073-7998.2022.09.38-40

Ethical issues of genome screening: review ; Этические проблемы геномного скрининга: обзор литературы

Authors: E. E. Baranova, G. Yu. Zobkova, M. V. Vorontsova, V. L. Izhevskaya, Е. Е. Баранова, Г. Ю. Зобкова, М. В. Воронцова, В. Л. Ижевская

Source: Medical Genetics; Том 20, № 5 (2021); 3-14 ; Медицинская генетика; Том 20, № 5 (2021); 3-14 ; 2073-7998

Subject Terms: этические проблемы, whole-exome sequencing, opportunistic genomic screening, ethical issues, полноэкзомное секвенирование, оппортунистический генетический скрининг

File Description: application/pdf

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Best Pract Res Clin Gastroenterol. 2014 Apr;28(2):269-79. doi:10.1016/j.bpg.2014.02.004.; Cooper D.N., Krawczak M., Polychronakos C., Tyler-Smith C., Kehrer-Sawatzki H. Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Hum Genet. 2013;132(10):1077-130.; Voorwinden J.S., Buitenhuis A.H., Birnie E., et al. Expanded carrier screening: what determines intended participation and can this be influenced by message framing and narrative information?. Eur J Hum Genet. 2017;25(7):793-800. doi:10.1038/ejhg.2017.74; Manrai, A.K., Funke, B.H., Rehm, H.L. et al. Genetic misdiagnoses and the potential for health disparities. N Engl J Med. 2016; 375: 655-665.; Van Driest S.L., Wells Q.S., Stallings S. et al. Association of arrhythmia-related genetic variants with phenotypes documented in electronic medical records. JAMA. 2016; 315: 47-57.; Cassa C.A., Tong M.Y., Jordan D.M. Large numbers of genetic variants considered to be pathogenic are common in asymptomatic individuals. Hum Mutat. 2013; 34: 1216-1220.; Christensen K.D., Dukhovny D., Siebert U., Green RC. Assessing the costs and cost-effectiveness of genomic sequencing. J Pers Med. 2015;5(4):470-86.; Goldfeder R.L., Wall D.P., Khoury M.J., Ioannidis J.P.A., Ashley E.A. Human genome sequencing at the population scale: a primer on high-throughput DNA sequencing and analysis. Am J Epidemiol. 2017; 186: 1000-1009.; Butterfield R.M., Evans J.P., Rini C., et al. Returning negative results to individuals in a genomic screening program: lessons learned. Genet Med. 2019;21(2):409-416.; Захарова Е.Ю., Ижевская В.Л., Байдакова Г.В., Иванова Т.А., Чумакова О.В., Куцев С.И. Массовый скрининг на наследственные болезни: ключевые вопросы. Медицинская генетика. 2017;16(10):3-13.; Scherokman B. Selecting and interpreting diagnostic tests. The Permanente Journal. 1997;1(2):4-7.; Hart M.R., Biesecker B.B., Blout C.L., et al. Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment and healthcare costs from a multi-site study. Genet Med. 2019;21(5):1100-1110.; Lebo M.S., Yu T.W., Fayer S., et al. Genomic sequencing reveals previously unrecognized phenotypes in a high proportion of those with unanticipated monogenic disease risk. Presented at: American Society of Human Genetics, San Diego, California, October 17, 2018.; Green R.C., Berg J.S., Grody W.W. et al. American College of Medical Genetics and Genomics. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013; 15: 565-574.; Green R.C., Lupski J.R., Biesecker L.G. Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional. JAMA. 2013; 310: 365-366.; ACMG Board of Directors. ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. Genet Med. 2015; 17: 68-69.; Kalia S.S., Adelman K., Bale S.J. et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2017; 19: 249-255.; Van El C.G., Cornel M.C., Borry P., Hastings R.J., Fellmann F., Hodgson S.V., et al. Public and Professional Policy Committee. Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics. Eur J Hum Genet. 2013;21:580-4.; de Wert, G., Dondorp, W., Clarke, A. et al. Opportunistic genomic screening. Recommendations of the European Society of Human Genetics. 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Look before you leap: genomic screening in obstetrics and gynecology. Obstet Gynecol. 2015; 125: 1299-1305.; Stavropoulos D.J., Merico D., Jobling R., et al. Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine. NPJ Genom Med. 2016;1:15012. doi:10.1038/npjgenmed.2015.12; ACMG Board of Directors. Points to consider in the clinical application of genomic sequencing. Genet Med. 2012; 14: 759-761.; Home - U.S. Preventive Services Task Force. Vol. 2016. Rockville, MD: USPSTF Program Office; 2014.; Tsubono Y., Hisamichi S. A halt to neuroblastoma screening in Japan. N Engl J Med. 2004; 350: 2010-2011.; McGrath S.P., Coleman J., Najjar L., Fruhling A., Bastola D.R. Comprehension and data-sharing behavior of direct-to-consumer genetic test customers. Public Health Genomics. 2016; 19: 116-124.; Krieger J.L., Murray F., Roberts J.S., Green R.C. The impact of personal genomics on risk perceptions and medical decision-making. Nat Biotechnol. 2016; 34: 912-918.; van der Hout S., Holtkamp K.C., Henneman L., de Wert G., Dondorp W.J. Advantages of expanded universal carrier screening: what is at stake?. Eur J Hum Genet. 2016;25(1):17-21. doi:10.1038/ejhg.2016.12535.; Mathijssen I.B., Holtkamp K.C.A., Ottenheim C.P.E., et al. Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population. Eur J Hum Genet. 2019;26(2):166-175. doi:10.1038/s41431-017-0056-4; Abul-Husn N.S., Manickam K., Jones L.K., Wright E.A., Hartzel D.N, GonzagaJauregui C, et al. Genetic identification of familial hypercholesterolemia within a single U.S. health care system. Science. 2016;354(6319):aaf7000. doi:10.1126/science.aaf7000. PMID: 28008010.; Perkins B.A., Caskey C.T., Brar P., Dec E., Karow D.S., Kahn A.M., et al. Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults. Proc Natl Acad Sci U S A. 2018; 115(14):3686-91.; Dewey F.E., Murray M.F., Overton J.D., Habegger L., Leader J.B., Fetterolf S.N., et al. Distribution and clinical impact of functional variants in 50,726 whole exome sequences from the DiscovEHR study. Science. 2016;354(6319): aaf6814. https://doi.org/10.1126/science.aaf6814.; Vassy J.L., Christensen K.D., Schonman E.F., Blout C.L., Robinson J.O., Krier J.B., et al. The impact of whole-genome sequencing on the primary care and outcomes of healthy adult patients: a pilot randomized trial. Ann Intern Med. 2017;167(3):159-69.; Johnston J.J., Lewis K.L., Ng D., Singh L.N., Wynter J., Brewer C., et al. Individualized iterative phenotyping for genome-wide analysis of loss-offunction mutations. Am J Hum Genet. 2015;96(6):913-25.; Collins F.S., Varmus H. A new initiative on precision medicine. N Engl J Med. 2015;372(9):793-795.; Botkin J.R., Belmont J.W., Berg J.S., et al. Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet. 2015;97(1):6-21.; Goldenberg A.J., Dodson D.S., Davis M.M., Tarini B.A. Parents’ interest in whole genome sequencing of newborns. Genet Med. 2014;16(1):78-84.; Roche M.I., Berg J.S. Incidental findings with genomic testing: implications for genetic counseling practice. Curr Genet Med Rep. 2015;3(4):166-176.; Waisbren S.E., Bäck D.K., Liu C., et al. Parents are interested in newborn genomic testing during the early postpartum period. Genet Med. 2015;17(6):501-504; Van Steijvoort E., Chokoshvili D, Cannkn D.W., et al. Interest in expanded carrier screening among individuals and couples in the general population: systematic review of the literature. Hum Reprod Update. 2020 Feb 25. pii: dmaa001. doi:10.1093/humupd/dmaa001.; VanNoy G.E., Genetti C.A., McGuire A.L., Green R.C., Beggs A.H., Holm I.A.; BabySeq Project Group. Challenging the Current Recommendations for Carrier Testing in Children. Pediatrics. 2019 Jan;143(Suppl 1):S27-S32. doi:10.1542/peds.2018-1099F.; Wang T., Ma J., Zhang Q., et al. Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population. Front Genet. 2019;10:1052. Published 2019 Oct 29. doi:10.3389/fgene.2019.01052; Boone P. M. Adolescents, Family History, and Inherited Disease Risk: An Opportunity. Pediatrics; 2016, 138 (2): e20160579. DOI:10.1542/peds.2016-0579; Vears D.F., Metcalfe S.A. Carrier testing in children and adolescents. Eur J Med Genet. 2015;58(12):659-67. doi:10.1016/j.ejmg.2015.11.006.; Malpas P.J. Why tell asymptomatic children of the risk of an adult-onset disease in the family but not test them for it? J Med Ethics 2006; 32: 639 - 642.; Wilfond B.S., Fernandez C.V., Green R.C. Disclosing secondary fi ndings from pediatric sequencing to families: considering the “benefi t to families”. J Law Med Ethics. 2015;43(3):552-558.; Bredenoord A.L., de Vries M.C., van Delden H. The right to an open future concerning genetic information. Am J Bioeth. 2014;14(3):21-23.; Летов О. В. Этические принципы исследований в области генетики. Культурология. 2007; 4: 26-4; Ross L.F., Clayton E.W. Ethical Issues in Newborn Sequencing Research: The Case Study of BabySeq. Pediatrics. 2019 Dec;144(6): e20191031. doi:10.1542/peds.2019-1031.; Ceyhan-Birsoy O., Murry J.B., Machini K., Lebo M.S., Yu T.W., Fayer S., Genetti C.A., Schwartz T.S., Agrawal P.B., Parad R.B., Holm I.A., McGuire A.L., Green R.C., Rehm H.L., Beggs A.H.; BabySeq Project Team. Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. Am J Hum Genet. 2019;104(1):76-93. doi:10.1016/j.ajhg.2018.11.016.; Adhikari A.N., Gallagher R.C., Wang Y. et al. The role of exome sequencing in newborn screening for inborn errors of metabolism. Nat Med. 2020; 26: 1392-1397. https://doi.org/10.1038/s41591-020-0966-5; Bunnik E.M., de Jong A., Nijsingh N., et al. The new genetics and informed consent: differentiating choice to preserve autonomy. Bioethics 2013;27(6):348-55; Parker M., Lucassen A. Using a genetic test result in the care of family members: how does the duty of confidentiality apply?. Eur J Hum Genet. 2018; 26: 955-959. (2018). https://doi.org/10.1038/s41431-018-0138-y; Horn R., Parker M. Opening Pandora’s box?: ethical issues in prenatal whole genome and exome sequencing. Prenat Diagn. 2018;38(1):20-25. doi:10.1002/pd.5114; Practice Committee of the American Society for Reproductive Medicine, Practice Committee of the Society for Assisted Reproductive Technology. Recommendations for gamete and embryo donation: a committee opinion. Fertil Steril. 2013;99:47-62.; Zhang T., Madeira J., Lu Y. Expanded Preconception Carrier Screening in Clinical Practice: Review of Technology, Guidelines, Implementation Challenges, and Ethical Quandaries. Clin Obstet Gynecol. 2019 Jun;62(2):217-227. doi:10.1097/GRF.0000000000000437.; Silver A.J., Larson J.L., Silver M.J., Lim R.M., Borroto C., Spurrier B., et al. Carrier screening is a deficient strategy for determining sperm donor eligibility and reducing risk of disease in recipient children. Genet Test Mol Biomarkers. 2016;20:276-84.

Availability: https://www.medgen-journal.ru/jour/article/view/1907
https://doi.org/10.25557/2073-7998.2021.05.3-14

Diagnostic utility of exome sequencing for inherited peripheral neuropathies ; Применение экзомного секвенирования для диагностики наследственных моторно-сенсорных нейропатий

Authors: O. A. Shchagina, O. P. Ryzhkova, A. L. Chukhrova, T. V. Milovidova, P. Gundorova, O. L. Mironovich, A. A. Orlova, M. D. Orlova, A. V. Poliakov, О. А. Щагина, О. П. Рыжкова, А. Л. Чухрова, Т. Б. Миловидова, П. Гундорова, О. Л. Миронович, А. А. Орлова, М. Д. Орлова, А. В. Поляков

Source: Neuromuscular Diseases; Том 10, № 4 (2020); 12-26 ; Нервно-мышечные болезни; Том 10, № 4 (2020); 12-26 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2020-10-4

Subject Terms: наследственная периферическая нейропатия, HMSN, Charcot–Marie–Tooth disease, CMT, whole exome sequencing, WES, inherited peripheral neuropathy, болезнь Шарко–Мари–Тута, полноэкзомное секвенирование

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Relation: https://nmb.abvpress.ru/jour/article/view/404/279; Barreto L.C.L.S., Oliveira F.S., Nunes P.S. et al. Epidemiologic study of Charcot–Marie–Tooth disease: a systematic review. Neuroepidemiology 2016;46(3):157–65. DOI:10.1159/000443706. PMID: 26849231.; Baets J., Timmerman V. Inherited peripheral neuropathies: a myriad of genes and complex phenotypes. Brain 2011;134(6):1587–90. DOI:10.1093/brain/awr114.; Drew A.P., Zhu D., Kidambi A. et al. Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. Mol Genet Genomic Med 2015;3(2):143–54. DOI:10.1002/mgg3.126. PMID: 25802885.; Hartley T., Wagner J.D., WarmanChardon J. et al. Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families. Clin Genet 2018;93(2):301–9. DOI:10.1111/cge.13101. PMID: 28708278.; Schabhüttl M., Wieland T., Senderek J. et al. Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges. J Neurol 2014;(261):970–82. DOI:10.1007/s00415-014-7289-8. PMID: 24627108.; Gonzaga-Jauregui C., Harel T., Gambin T. et al. Exome sequence analysis suggests that genetic burden contributes to phenotypic variability and complex neuropathy. Cell Rep 2015;12(7):1169–83. DOI:10.1016/j.celrep.2015.07.023. PMID: 26257172.; Richards S., Aziz N., Bale S. et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;(17):405–23. DOI:10.1038/gim.2015.30. PMID: 25741868.; Щагина О.А., Дадали Е.Л., Федотов В.П., Поляков А.В. Спектр мутаций в гене MFN2 у больных наследственной моторно-сенсорной нейропатией II А типа. Медицинская генетика 2006;5(9):21–6.; Дадали Е.Л., Щагина О.А., Федотов В.П. Клинико-генетические особенности моторно-сенсорной нейропатии IIА типа. Анналы клинической и экспериментальной неврологии 2007;1(4):10–5.; Миловидова Т.Б., Дадали Е.Л., Федотов В.П. и др. Клинико-генетичекие корреляции при наследственной моторно-сенсорной нейропатии, вызванной мутациями в гене МРZ (P0). Журнал неврологии и психиатрии им. С.С. Корсакова 2011;111(12):48–55.; Latour P., Thauvin-Robinet C., BaudeletMéry C. et al. A major determinant for binding and aminoacylation of tRNAAla in cytoplasmic alanyl-trna synthetase is mutated in dominant axonal charcotmarie-tooth disease. Am J Hum Genet 2010;86(1):77–82. DOI:10.1016/j.ajhg.2009.12.005. PMID: 20045102.; Shchagina O.A., Milovidova T.B., Murtazina A.F. et al. HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients. Mol Biol Rep 2020;(47):1331–7. DOI:10.1007/s11033-019-05238-z.; Дадали Е.Л., Никитин С.С., Курбатов С.А. и др. Клинико-генетические характеристики аутосомно-рецессивной аксональной нейропатии с нейромиотонией у больных из России. Нервно-мышечные болезни 2017;7(3): 47–55. DOI:10.17650/2222-8721-2017-7-3-47-55.; https://nmb.abvpress.ru/jour/article/view/404

Availability: https://nmb.abvpress.ru/jour/article/view/404
https://doi.org/10.17650/2222-8721-2020-10-4-12-26

Neonatal case of dilated cardiomyopathy associated with novel MYH7 and TBX5 genetic variants ; Неонатальный случай дилатационной кардиомиопатии, ассоциированный с новыми генетическими вариантами MYH7 и TBX

Authors: A. M. Zlotina, Yu. V. Fomicheva, T. L. Vershinina, A. A. Kozyreva, A. M. Kiselev, T. M. Pervunina, E. S. Vasichkina, A. A. Kostareva, А. М. Злотина, Ю. В. Фомичева, Т. Л. Вершинина, А. А. Козырева, А. М. Киселёв, Т. М. Первунина, Е. С. Васичкина, А. А. Костарева

Source: Medical Genetics; Том 19, № 5 (2020); 16-17 ; Медицинская генетика; Том 19, № 5 (2020); 16-17 ; 2073-7998

Subject Terms: TBX5, врожденный порок сердца, полноэкзомное секвенирование, MYH7, dilated cardiomyopathy, congenital heart defects, whole-exome sequencing

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Relation: https://www.medgen-journal.ru/jour/article/view/1195/837

Availability: https://www.medgen-journal.ru/jour/article/view/1195
https://doi.org/10.25557/2073-7998.2020.05.16-17

A study of new molecular genetic markers of sudden cardiac death identified in the analysis of the results of whole-exome sequencing ; Исследование новых молекулярно-генетических маркеров внезапной сердечной смерти, выявленных при анализе результатов полноэкзомного секвенирования

Authors: A. A. Ivanova, E. S. Melnikova, A. A. Gurazheva, S. K. Maljutina, V. P. Novoselov, I. A. Rodina, O. V. Hamovich, V. N. Maksimov, А. А. Иванова, Е. С. Мельникова, А. А. Гуражева, С. К. Малютина, В. П. Новоселов, И. А. Родина, О. В. Хамович, В. Н. Максимов

Source: Medical Genetics; Том 19, № 5 (2020); 33-35 ; Медицинская генетика; Том 19, № 5 (2020); 33-35 ; 2073-7998

Subject Terms: rs34643859, однонуклеотидный полиморфизм, полноэкзомное секвенирование, rs77270326, внезапная сердечная смерть, sudden cardiac death, single nucleotide polymorphism, whole-exome sequencing

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Relation: https://www.medgen-journal.ru/jour/article/view/1202/844

Availability: https://www.medgen-journal.ru/jour/article/view/1202
https://doi.org/10.25557/2073-7998.2020.05.33-35

A novel nonsense mutation c.1121G>A (p.Trp374*) in the CLIC5 gene is the main cause of the juvenile autosomal recessive form of deafness (DFNB103) in the Arctic regions of Yakutia ; Новая нонсенс-мутация с.1121G>A (p.Trp374*) гена CLIC5 - основная причина ювенильной аутосомно-рецессивной формы глухоты (DFNB103), очаги накопления которой обнаружены в арктических районах Якутии

Authors: V. G. Pshennikova, G. P. Romanov, T. M. Nikolaeva, F. M. Teryutin, T. V. Borisova, I. F. Komar’Kov, A. V. Antonets, A. V. Solovyev, L. A. Klarov, A. A. Bondar, I. V. Morozov, O. L. Posukh, E. K. Khusnutdinova, S. A. Fedorova, N. A. Barashkov, В. Г. Пшенникова, Г. П. Романов, Т. М. Николаева, Ф. М. Терютин, Т. В. Борисова, И. Ф. Комарьков, А. В. Антонец, А. В. Соловьев, Л. А. Кларов, А. А. Бондарь, И. В. Морозов, О. Л. Посух, Э. К. Хуснутдинова, С. А. Федорова, Н. А. Барашков

Source: Medical Genetics; Том 18, № 10 (2019); 36-48 ; Медицинская генетика; Том 18, № 10 (2019); 36-48 ; 2073-7998

Subject Terms: Republic of Sakha (Yakutia), тип 103 (DFNB103), ген CLIC5, полноэкзомное секвенирование (WES), Арктика, Республика Саха (Якутия), autosomal recessive deafness, type 103 (DFNB103), CLIC5 gene, whole exome sequencing (WES), Arctic

File Description: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/732/456

Availability: https://www.medgen-journal.ru/jour/article/view/732

Genetic basis of depressive disorders ; Генетические основы предрасположенности к депрессивным расстройствам

Authors: Yu. D. Davydova, R. F. Enikeeva, A. V. Kazantseva, R. N. Mustafin, A. R. Romanova, S. B. Malykh, E. K. Khusnutdinov, Ю. Д. Давыдова, Р. Ф. Еникеева, А. В. Казанцева, Р. Н. Мустафин, А. Р. Романова, С. Б. Малых, Э. К. Хуснутдинова

Contributors: The present study was supported by the Russian Foundation for Basic Research (project No. 17-29-02195) "Genomics of aggressive and depressive human behavior”

Source: Vavilov Journal of Genetics and Breeding; Том 23, № 4 (2019); 465-472 ; Вавиловский журнал генетики и селекции; Том 23, № 4 (2019); 465-472 ; 2500-3259

Subject Terms: полноэкзомное секвенирование, serotonin, hypothalamic-pituitary adrenal axis, neurotrophin, apoptosis, cytokines, GWAS, whole-exome sequencing, серотонин, гипоталамо-гипофизарная система, нейротрофин, апоптоз, цитокины

File Description: application/pdf

Relation: https://vavilov.elpub.ru/jour/article/view/2140/1238; Amin N., Belonogova N.M., Jovanova O., Brouwerc R.W.W., van Rooij J.G.J., van den Hout M.C.G.N., Svishcheva G.R., Kraaij R., Zorkoltseva I.V., Kirichenko A.V., Hofman A., Uitterlinden A.G., van IJcken W.F.J., Tiemeier H., Axenovich T.I., van Duijn C.M. Nonsynonymous variation in NKPD1 increases depressive symptoms in european populations. Biol. Psychiatry. 2017a;81(8):702707. DOI 10.1016/j.biopsych.2016.08.008.; Amin N., Jovanova O., Adams H.H., Dehghan A., Kavousi M., Vernooij M.W., Peeters R.P., de Vrij F.M.S., van der Lee S.J., van Rooij J.G.J., van Leeuwen E.M., Chaker L., Demirkan A., Hofman A., Brouwer R.W.W., Kraaij R., van Dijk K.W., Hankemeier T., van Ijcken W.F.J., Uitterlinden A.G., Niessen W.J., Franco O.H., Kushner S.A., Ikram M.A., Tiemeier H., van Duijn C.M. Exome-sequencing in a large population-based study reveals a rare Asn396Ser variant in the LIPG gene associated with depressive symptoms. Mol. Psychiatry. 2017b;22(4):537-543. DOI 10.1038/mp.2016.101.; Amin N., de Vrij F.M.S., Baghdadi M., Brouwer R.W.W., van Rooij J.G.J., Jovanova O., Uitterlinden A.G., Hofman A., Janssen H.L.A., Darwish Murad S., Kraaij R., Stedehouder J., van den Hout M.C.G.N., Kros J.M., van IJcken W.F.J., Tiemeier H., Kushner S.A.C., van Duijn M. A rare missense variant in RCL1 segregates with depression in extended families. Mol. Psychiatry. 2018; 23(5):1120-1126. DOI 10.1038/mp.2017.49.; Bachis A., Cruz M.I., Nosheny R.L., Mocchetti I. Chronic unpredictable stress promotes neuronal apoptosis in the cerebral cortex. Neurosci. Lett. 2008;442(2):104-108. DOI 10.1016/j.neulet.2008.06.081.; Bîlc M.I., Vulturar R., Chiș A., Buciuman M., Nuţu D., Bunea I., Szentágotai-Tătar A., Miu A.C. Childhood trauma and emotion regulation: The moderator role of BDNF Val66Met. Neurosci. Lett. 2018;685:7-11. DOI 10.1016/j.neulet.2018.07.018.; Bleys D., Luyten P., Soenens B., Claes S. Gene-environment interactions between stress and 5-HTTLPR in depression: A meta-analytic update. J. Affect. Disord. 2018;226:339-345. DOI 10.1016/j.jad.2017.09.050.; CONVERGE consortium. Sparse whole-genome sequencing identifies two loci for major depressive disorder. Nature. 2015;523(7562): 588-591. DOI 10.1038/nature14659.; Culverhouse R.C., Saccone N.L., Horton A.C., Weinstein M., Whooley M., Nurnberger J.I.Jr. Collaborative meta-analysis finds no evidence of a strong interaction between stress and 5-HTTLPR genotype contributing to the development of depression. Mol. Psychiatry. 2018;23(1):133-142. DOI 10.1038/mp.2017.44.; Cusin C., Yang H., Yeung A., Fava M. Rating scales for depression. Eds. L. Baer, M.A. Blais. Handbook of Clinical Rating Scales and Assessment in Psychiatry and Mental Health. Totowa, N.J.: Humana Press, 2010;7-35.; Daches S., Vine V., Layendecker K.M., George C.J., Kovacs M. 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Availability: https://vavilov.elpub.ru/jour/article/view/2140
https://doi.org/10.18699/VJ19.515

High-performance DNA sequencing to identify genetically determined diseases in pediatric practice ; Высокопроизводительное секвенирование ДНК для идентификации генетически детерминированных заболеваний в педиатрической практике

Authors: V. Yu. Voinova, E. A. Nikolaeva, N. V. Shсherbakova, M. I. Yuablonskaya, В. Ю. Воинова, Е. А. Николаева, Н. В. Щербакова, М. И. Яблонская

Contributors: Ministry of Health of Russia, Министерство здравоохранения Российской Федерации

Source: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 64, № 1 (2019); 103-109 ; Российский вестник перинатологии и педиатрии; Том 64, № 1 (2019); 103-109 ; 2500-2228 ; 1027-4065 ; 10.21508/1027-4065-2019-64-1

Subject Terms: прогностический вторичный вариант, hereditary diseases, full-excinal sequencing, new generation sequencing, interpretation of sequencing data, primary diagnosis, possible diagnosis, double diagnosis, prognostic secondary variant, наследственные болезни, полноэкзомное секвенирование, секвенирование нового поколения, интерпретация данных секвенирования, первичный диагноз, возможный диагноз, двойной диагноз

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Availability: https://www.ped-perinatology.ru/jour/article/view/829
https://doi.org/10.21508/1027-4065-2019-64-1-103-109

The clinical case of limb-girdle muscle dystrophy 2Q associated with myasthenic syndrome and lung damage ; Клинический случай поясно-конечностной мышечной дистрофии 2Q, ассоциированной с миастеническим синдромом и поражением легких

Authors: S. N. Bardakov, R. V. Deev, M. O. Mavlikeev, Z. R. Umakhanova, P. G. Akhmedova, R. M. Magomedova, K. Z. Zulfugarov, V. A. Tsargush, I. A. Chekmareva, I. A. Yakovlev, G. D. Dalgatov, G. I. Yakubovsky, A. A. Isaev, С. Н. Бардаков, Р. В. Деев, М. О. Мавликеев, З. Р. Умаханова, П. Г. Ахмедова, Р. М. Магомедова, К. З. Зульфугаров, В. А. Царгуш, И. А. Чекмарева, И. А. Яковлев, Г. Д. Далгатов, Г. И. Якубовский, А. А. Исаев

Contributors: This work was funded by a grant from the Russian Science Foundation (14-15-00916). Rabbit anti-pectin antiserum was kindly provided by Professor Dr. Gerhard Wiech (Vienna, Austria). Our gratitude to the head of the laboratory “GeneticO” (Moscow) E.A. Pomerantseva and her staff, Работа финансирована грантом Российского научного фонда (14-15-00916). Кроличья анти-плектин антисыворотка была любезно предоставлена профессором доктором Герхардом Вихом (Вена, Австрия). Выражаем благодарность заведующей лабораторией “GeneticO” (г. Москва) Е.А. Померанцевой и ее сотрудникам

Source: Neuromuscular Diseases; Том 9, № 3 (2019); 40-55 ; Нервно-мышечные болезни; Том 9, № 3 (2019); 40-55 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2019-9-3

Subject Terms: мышечные дистрофии, limb-girdle muscle dystrophy 2Q, PLEC gene, PLEC 1f isoform, whole-exome sequencing, hypercreatinephos-phatemia, myopathy, myasthenic syndrome, non-infection bronchiolitis, muscular dystrophies, поясно-конечностная мышечная дистрофия 2Q, ген PLEC, изоформа плектина 1f полноэкзомное секвенирование, гиперкреатинфосфатемия, миопатия, миастенический синдром, неинфекционный бронхиолит

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Plectin 1f scaffolding at the sarcolemma of dystrophic (mdx) muscle fibers through multiple interactions with beta-dystroglycan. J Cell Biol 2007;176(7):965—77. DOI:10.1083/jcb.200604179. PMID: 17389230.; Johnson M.A., Polgar J., Weightman D., Appleton D. Data on the distribution of fibre types in thirty-six human muscles. An autopsy study. J Neurol Sci 1973;18(1):111—29. DOI:10.1016/0022-510x(73)90023-3. PMID: 4120482.; Gundesli H., Cirak S., Dincer P. Pitfall of identifying a disease locus by using low-resolution SNP arrays. J Mol Genet Med 2011;5:264-5. DOI:10.4172/1747-0862.1000047. PMID: 22190979.; Fattahi Z., Kahrizi K., Nafissi S. et al. Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy. Arch Iran Med 2015;18(1):60—4. DOI: 0151801/AIM.0014. PMID: 25556389.; Takawira D., Scott Budinger G.R., Hopkinson S.B., Jones J.C.R. A dystroglycan/plectin scaffold mediates mechanical pathway bifurcation in lung epithelial cells. 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Availability: https://nmb.abvpress.ru/jour/article/view/343
https://doi.org/10.17650/2222-8721-2019-9-3-40-55

Congenital myasthenic syndrome with respiratory failure type 20 ; Врожденный миастенический синдром с дыхательной недостаточностью, тип 20

Authors: T. V. Kozhanova, S. S. Zhilina, T. I. Mescheryakova, M. Yu. Shorina, I. F. Demenshin, G. G. Prokopiev, A. G. Prityko, Т. В. Кожанова, С. С. Жилина, Т. И. Мещерякова, М. Ю. Шорина, И. Ф. Деменьшин, Г. Г. Прокопьев, А. Г. Притыко

Source: Medical Genetics; Том 17, № 10 (2018); 42-45 ; Медицинская генетика; Том 17, № 10 (2018); 42-45 ; 2073-7998

Subject Terms: whole-exome sequencing, врожденный миастенический синдром, дыхательная недостаточность, мышечная гипотония, полноэкзомное секвенирование, SLC5A7 gene, congenital myasthenic syndrome, respiratory failure, muscle hypotonia

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Relation: https://www.medgen-journal.ru/jour/article/view/593/374; Агафонов Б.В., Котов С.В., Сидорова О.П. «Миастения и врожденные миастенические синдромы» - 2013. Медицинское информационное агентство. - М. - 224с.; Abicht A., Muller J., Lochmuller Н. Congenital Myasthenic Syndromes. GeneReviews® [Internet]. 2016; Black, S.A., and Rylett, R.J. Choline transporter CHT regulation and function in cholinergic neurons. Cent. Nerv. Syst. Agents Med. Chem.2012;12:114-121.; Haga, T. Molecular properties of the high-affinity choline transporter CHT1. J. Biochem. 2014;156:181-194.; Engel, A.G., Shen, X.M., Selcen, D., and Sine, S.M. Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. Lancet Neurol. 2015;14:420-434.; Byring, R.F., Pihko, H., Tsujino, A., Shen, X.M., Gustafsson, B., Hackman, P., Ohno, K., Engel,A.G. and Udd,B. Congenital myasthenic syndrome associated with episodic apnea and sudden infant death. Neuromuscul. Disord. 2002;12:548-553.; Ohno, K., Tsujino, A., Brengman, J.M., Harper, C.M., Bajzer, Z., Udd, B., Beyring, R., Robb, S., Kirkham, F.J., and Engel, A.G. Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. Proc. Natl. Acad. Sci. 2001;98:2017-2022.; База данных OMIM - https://www.omim.org/entry/617143.; База данных Orphanet - https://www.orpha.net.; Bauche, S., O’Regan, S., Azuma, Y., Laffargue, F., McMacken, G., Sternberg, D., Brochier, G., Buon, C., Bouzidi, N., Topf, A., Lacene, E., Remerand, G. Impaired presynaptic high-affinity choline transporter causes a congenital myasthenic syndrome with episodic apnea. Am. J. Hum. Genet. 2016;99:753-761.; McMacken G., Whittaker R., Evangelista T., Abicht А., Dus М., Lochmuller Н. Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients. J Neurol. 2018; 265(1): 194-203.; Wang H., Salter C., Refai O., Hardy H., Barwick K., Akpulat U., Kvarnung M., Chioza B., Harlalka G., Taylan F., Sejersen T., Wright J., Zimmerman H., Karakaya M., Stuve B., Weis J., Schara U., Russell M., Abdul-Rahman O., Chilton J., Blakely R., Baple E., Cirak S., Crosby A. Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization. Brain. 2017;140(11):2838-2850.

Availability: https://www.medgen-journal.ru/jour/article/view/593
https://doi.org/10.25557/2073-7998.2018.10.42-45

Review of the Proceedings of the European Society for Medical Oncology (ESMO) 2017 Congress ; Обзор материалов конгресса Европейского общества медицинской онкологии (ESMO) 2017 г.

Authors: A. A. Kirichek, B. Sh. Kamolov, V. B. Matveev, А. А. Киричек, Б. Ш. Камолов, В. Б. Матвеев

Source: Cancer Urology; Том 13, № 4 (2017); 133-140 ; Онкоурология; Том 13, № 4 (2017); 133-140 ; 1996-1812 ; 1726-9776 ; 10.17650/1726-9776-2017-13-4

Subject Terms: мутационная нагрузка, sequential targeted therapy, combination immunotherapy with nivolumab and ipilimumab, cabozantinib, lenvatinib in combination with pembrolizumab, monoclonal antibody VEGFR-2 antagonist, ramucirumab, whole exome sequencing of tumor DNA, tumor mutation burden, последовательная таргетная терапия, комбинированная иммунотерапия ниволумабом и ипилимумабом, кабозантиниб, комбинация ленватиниба и пембролизумаба, моноклональное антитело к рецептору 2-го типа эндотелиального фактора роста сосудов, рамуцирумаб, полноэкзомное секвенирование опухолевой ДНК

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Relation: https://oncourology.abvpress.ru/oncur/article/view/779/728; https://oncourology.abvpress.ru/oncur/article/view/779

Availability: https://oncourology.abvpress.ru/oncur/article/view/779
https://doi.org/10.17650/1726-9776-2017-13-4-133-140

TREATMENT OF HEAD AND NECK SQUAMOUS CELL CARCINOMA ACCORDING ON THE SPECIFIC MOLECULAR FEATURES OF THE TUMOR (A LITERATURE REVIEW) ; ВОЗМОЖНОСТИ ТЕРАПИИ ПЛОСКОКЛЕТОЧНОГО РАКА ГОЛОВЫ И ШЕИ В ЗАВИСИМОСТИ ОТ МОЛЕКУЛЯРНЫХ ОСОБЕННОСТЕЙ ОПУХОЛИ (ОБЗОР ЛИТЕРАТУРЫ)

Authors: A. I. Stukan, R. A. Murashko, V. N. Bodnya, O. Yu. Chukhray, E. V. Dulina, А. И. Стукань, Р. А. Мурашко, В. Н. Бодня, О. Ю. Чухрай, Е. В. Дулина

Source: Head and Neck Tumors (HNT); Том 7, № 3 (2017); 66-73 ; Опухоли головы и шеи; Том 7, № 3 (2017); 66-73 ; 2411-4634 ; 2222-1468 ; 10.17650/2222-1468-2017-7-3

Subject Terms: пути дифференцировки ПРГШ, whole-exome sequencing, human papillomavirus type 16, mutations in tumor suppressors, target therapy, ways of HNSCC differentiation, полноэкзомное секвенирование, вирус папилломы человека 16-го типа, мутации супрессоров опухолевого роста, таргетная терапия

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Availability: https://ogsh.abvpress.ru/jour/article/view/291
https://doi.org/10.17650/2222-1468-2017-7-3-66-73

Полноэкзомное секвенирование в изучении генетических факторов риска болезни Паркинсона

Contributors: Казанский (Приволжский) федеральный университет

Subject Terms: болезнь Паркинсона, полноэкзомное секвенирование, мутации

Access URL: https://openrepository.ru/article?id=190806

Полноэкзомное секвенирование в изучении генетических факторов риска болезни Паркинсона

Authors: Шадрина Мария Игоревна, Шульская Марина Вадимовна, Пчелина Софья Николаевна, Иллариошкин Сергей Николаевич

Contributors: Казанский (Приволжский) федеральный университет

Subject Terms: полноэкзомное секвенирование, болезнь Паркинсона, мутации

Relation: В поисках моделей персонализированной медицины; http://rour.neicon.ru:80/xmlui/bitstream/rour/190806/1/nora.pdf; https://openrepository.ru/article?id=190806

Availability: https://openrepository.ru/article?id=190806