المؤلفون: D. V. Sidorenko, V. D. Nazarov, S. V. Lapin, V. L. Emanuel, K. L. Raikhelson, V. P. Gomonova

المصدر: Учёные записки Санкт-Петербургского государственного медицинского университета им. Акад. И.П. Павлова, Vol 30, Iss 4, Pp 43-51 (2024)

مصطلحات موضوعية: nonalcoholic fatty liver disease, nafld, pnpla3 gene, liver steatosis, liver fibrosis, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.sci-notes.ru/jour/article/view/1007; https://doaj.org/toc/1607-4181; https://doaj.org/toc/2541-8807

URL الوصول: https://doaj.org/article/cd7881b80a8c40409068b499ac4308a1

المؤلفون: A. V. Dil, V. D. Nazarov, D. V. Sidorenko, S. V. Lapin, V. L. Emanuel

المصدر: Нервно-мышечные болезни, Vol 12, Iss 3, Pp 36-44 (2022)

مصطلحات موضوعية: spinal muscular atrophy, smn1, smn2, molecular diagnostics, pathogenetic therapy, gene therapy, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://nmb.abvpress.ru/jour/article/view/498; https://doaj.org/toc/2222-8721; https://doaj.org/toc/2413-0443

URL الوصول: https://doaj.org/article/256111deb28f4884aebec07f19989666

المؤلفون: V. P. Gomonova, K. L. Raikhelson, E. V. Pazenko, M. K. Prashnova, S. V. Lapin, V. D. Nazarov, D. V. Sidorenko

المصدر: Сеченовский вестник, Vol 0, Iss 0 (2022)

مصطلحات موضوعية: nonalcoholic fatty liver disease, pnpla3, transient elastography, controlled attenuation parameter, dyslipidemia, type 2 diabetes mellitus, waist circumference, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.sechenovmedj.com/jour/article/view/1114; https://doaj.org/toc/2218-7332; https://doaj.org/toc/2658-3348

URL الوصول: https://doaj.org/article/b2db41fd380948928961bcf690d82bed

المؤلفون: V. O. Ivchenko, S. D. Danilov, D. V. Sidorenko, J. Schröter, M. Wenzel, D. L. Aleynik

المصدر: Ocean Science, Vol 3, Iss 4, Pp 485-490 (2007)

مصطلحات موضوعية: Geography. Anthropology. Recreation, Environmental sciences, GE1-350

وصف الملف: electronic resource

Relation: http://www.ocean-sci.net/3/485/2007/os-3-485-2007.pdf; https://doaj.org/toc/1812-0784; https://doaj.org/toc/1812-0792

URL الوصول: https://doaj.org/article/6b74058db79247519100a1eca2efca89

المؤلفون: E. A. Deviatkina, V. D. Nazarov, D. V. Sidorenko, A. K. Musonova, S. V. Lapin, T. V. Blinova, E. A. Surkova, Е. А. Девяткина, В. Д. Назаров, Д. В. Сидоренко, А. К. Мусонова, С. В. Лапин, Т. В. Блинова, Е. А. Суркова

المصدر: Medical Genetics; Том 23, № 4 (2024); 25-37 ; Медицинская генетика; Том 23, № 4 (2024); 25-37 ; 2073-7998

مصطلحات موضوعية: антиципация, trinucleotide CAG-repeats, Sherman paradox, anticipation, CAG-повторы, феномен Шермана

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/2460/1784; Селивёрстов Ю.А., Драницына М.А., Кравченко М.А., и др. Эпидемиология болезни Гентингтона в Российской Федерации. Сб. ст. Болезнь Паркинсона и расстройства движений. Руководство для врачей. По материалам IV Национального конгресса по болезни Паркинсона и расстройствам движений. 2017; 244-246.; Baig S.S., Strong M., Quarrell O.W. The global prevalence of Huntington’s disease: a systematic review and discussion. Neurodegenerative Disease Management. 2016; 6(4): 331-343.; The Huntington’s Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell. 1993; 72: 971-983.; Bates G., Harper P.S., Jones L. Huntington’s Disease, 3rd edn. Oxford: Oxford University Press, 2002. 558p.; Illarioshkin S.N., Klyushnikov S.A., Vigont V.A., et al. Molecular Pathogenesis in Huntington’s Disease. Biochemistry (Mosc). 2018; 83(9): 1030-1039.; Losekoot M., van Belzen M.J., Seneca S., Bauer P., Stenhouse S.A., Barton D.E.; European Molecular Genetic Quality Network (EMQN). EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease. Eur J Hum Genet. 2013; 21(5):480-6.; Cannella M., Maglione V., Martino T., et al. New Huntington disease mutation arising from a paternal CAG34allele showing somatic length variation in serially passaged lymphoblasts. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 2005; 133B(1): 127–130.; Забненкова В.В., Щагина О.А., Галеева Н.М., и др. Молекулярные аспекты хореи Гентингтона у жителей России. Генетика. 2018; 5(6): 710–718.; Myers R.H. Huntington’s disease genetics. NeuroRx. 2004; 1(2): 255-62.; Capiluppi E., Romano L., Rebora P., et al. Late-onset Huntington’s disease with 40–42 CAG expansion. Neurological Sciences. 2020; 41: 869–876.; Saudou F., Finkbeiner S., Devys D., et al. Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions. Cell. 1998; 95: 55-66.; Bjelland S., Seeberg E. Mutagenicity, toxicity and repair of DNA base damage induced by oxidation. Mutat. Res. 2003; 531: 37–80.; Aziz N.A., Jurgens C.K., Landwehrmeyer G.B., et al. Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease. Neurology. 2009; 73(16): 1280-1285.; Kovtun I.V., Liu Y., Bjoras M., et al. OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells. Nature. 2007; 447: 447–452.; Spiro C., Pelletier R., Rolfsmeier M.L., et al. Inhibition of FEN-1 processing by DNA secondary structure at trinucleotide repeats. Mol. Cell. 1999; 4: 1079-1085.; McMurray C.T. Mechanisms of trinucleotide repeat instability during human development. Nature Reviews Genetics. 2010; 11(11): 786–799.; Erkkinen M.G., Kim M.O., Geschwind M.D. Clinical Neurology and Epidemiology of the Major Neurodegenerative Diseases. Cold Spring Harb Perspect Biol. 2018; 10(4). a033118. doi:10.1101/cshperspect.a033118.; Brinkman R.R., Mezei M.M., Theilmann J., et al. The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size. Am J Hum Genet. 1997. 60(5): 1202-1210.; Duyao M., Ambrose C., Myers R., et al. Trinucleotide repeat length instability and age of onset in Huntington’s disease. Nature Genetics. 1993; 4(4): 387–392.; Langbehn D., Brinkman R., Falush D., et al. A new model for prediction of the age of onset and penetrance for Huntington’s disease based on CAG length. Clinical Genetics. 2004; 65(4): 267–277.; Назаров В.Д., Лапин С.В., Гавриченко А.В., и др. Выявление экспансии тринуклеотидных повторов при болезни Гентингтона. Медицинская генетика. 2017; 3: 24-29.; Losekoot M., van Belzen M.J., Seneca S. et al. EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease. Eur J Hum Genet. 2013; 21(5): 480-486.; Quarrell O.W., Handley O., O’Donovan K. et al. Discrepancies in reporting the CAG repeat lengths for Huntington’s disease. Eur J Hum Genet. 2012 Jan;20(1): 20-6.; Руденская Г.Е., Саввин Д.А., Федотов В.П., и др. Ювенильная болезнь Гентингтона. Анналы клинической и экспериментальной неврологии. 2010; 4(2): 52-58.; Мунасипова С.Э., Залялова З.А. Клинико-эпидемиологические аспекты болезни Гентингтона в Республике Татарстан. Анналы клинической и экспериментальной неврологии. 2020; 14(2): 23–28.; Проскокова Т.Н., Скретнев А.С. Эпидемиология болезни Гентингтона в Хабаровском крае. Анналы клинической и экспериментальной неврологии. 2016; 2: 28-32.; Quarrell O., O’Donovan K.L., Bandmann O., et al. The Prevalence of Juvenile Huntington’s Disease: A Review of the Literature and Meta-Analysis. PLoS Curr. 2012; 4:e4f8606b742ef3. doi:10.1371/4f8606b742ef3.; Quarrell O.W., Nance M.A., Nopoulos P., et al. Managing juvenile Huntington’s disease. Neurodegenerative Disease Management. 2013; 3(3): 267-276.; Ruocco H., Lopes-Cendes I., Laurito T., et al. Clinical presentation of juvenile Huntington disease. Arq. Neuropsiquiatr. 2006; 64: 5–9.; Squitieri F., Cannella M., Giallonardo P., et al. Onset and pre-onset studies to define the Huntington’s disease natural history. Brain Research Bulletin. 2001; 56(3-4): 233–238.; Ajitkumar A., De Jesus O. Huntington Disease. 2022 Oct 7. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing. 2022; PMID: 32644592.; Никитина М.А., Брагина Е.Ю., Гомбоева Д.Е., и др. Атипичное течение болезни Паркинсона с клиническими проявлениями болезни Гентингтона у пациентки с аллелем 27 CAG повторов в гене HTT. Бюллетень сибирской медицины. 2020; 4: 235-240.; Юдина Г.К., Соловых Н.Н., Шоломов И.И. Клинико-генетическая характеристика наследственных экстрапирамидных заболеваний в Саратовской области. Журн. неврол. и психиатрии им. С.С. Корсакова. 2005; 5: 52–55.; Costa M. do C., Magalhães P., Guimarães L., et al. The CAG repeat at the Huntington disease gene in the Portuguese population: insights into its dynamics and to the origin of the mutation. Journal of Human Genetics. 2005; 51(3): 189-195.; Ha A.D., Beck C.A., Jankovic J. Intermediate CAG repeats in Huntington’s disease: Analysis of COHORT. Tremor Other Hyperkinet Mov. 2012; 2: tre-02-64-287-4.; Kay C., Collins J.A., Miedzybrodzka Z., et al. Huntington disease reduced penetrance alleles occur at high frequency in the general. Neurology. 2016; 87: 282–288.; Downing N.R., Lourens S., De Soriano I., et al. PREDICT-HD Investigators and Coordinators of the Huntington Study Group. Phenotype Characterization of HD Intermediate Alleles in PREDICT-HD. J Huntingtons Dis. 2016; 5(4): 357-368.; Cubo E., Ramos-Arroyo M.A., Martinez-Horta S., et al. Clinical manifestations of intermediate allele carriers in Huntington disease. Neurology. 2016; 87(6): 571-578.; Killoran A., Biglan K.M., Jankovic J., et al. Characterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS. Neurology. 2013; 80(22): 2022-2027.; Menéndez-González M., Clarimón J., Allende I.R., et al. HTT gene intermediate alleles in neurodegeneration: Evidence for association with Alzheimer’s disease. Neurobiol. Aging. 2019; 76: 215.e9–215. e14. DOI:10.1016/j.neurobiolaging.2018.11.014.; Ramos E.M., Gilli T., Mysore J.S., et al. Prevalence of Huntington’s disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder. Bipolar Disorders, 2015; 17(4): 403-408.; Perlis R.H., Smoller J.W., Mysore J., et al. Prevalence of Incompletely Penetrant Huntington’s Disease Alleles Among Individuals With Major Depressive Disorder. American Journal of Psychiatry. 2010; 167(5): 574-579.; Telenius H., Almqvist E., Kremer B., et al. Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease. Human Molecular Genetics. 1995; 4(2): 189–195.; Chena Y.-S., Hua T.-M., Wanga Y.-Y., Wu C.-L. A case of Huntington’s disease presenting with psychotic symptoms and rapid cognitive decline in the early stage. European Journal of Psychiatry. 2019. 36(1): 65-66.; Морозов И.И., Емельянов Ю.В. Клинический случай болезни Гентингтона в психиатрической практике. Здравоохранение Югры: опыт и инновации. 2017;3: 62-65.; Kaplan S., Itzkovitz S., Shapiro E. A Universal Mechanism Ties Genotype to Phenotype in Trinucleotide Diseases. PLoS Computational Biology. 2007; 3(11): e235. doi:10.1371/journal.pcbi.0030235.; Illarioshkin S.N., Igarashi S., Onodera O., et al. Trinucleotide repeat length and rate of progression of Huntington’s disease. Annals of Neurology. 1994; 36(4): 630–635.; Folstein S.E. Huntington’s disease: A disorder of families. Johns Hopkins University Press. 1989. 251p.; Agostinho L.A., Dos Santos S.R., Alvarenga R.M., et al. A systematic review of the intergenerational aspects and the diverse genetic profiles of Huntington’s disease. Genet Mol Res. 2013; 12(2): 1974-1981.; Goldberg Y.P., Kremer B., Andrew S.E., et al. Molecular analysis of new mutations for Huntington’s disease: intermediate alleles and sex of origin effects. Nature Genetics. 1993; 5(2): 174–9179.; Kremer B., Almqvist E., Theilmann J., et al. Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes. Am J Hum Genet. 1995; 57(2): 343-50.; Semaka A., Hayden M.R. Evidence-based genetic counselling implications for Huntington disease intermediate allele predictive test results. Clin. Genet. 2014; 85(4): 303-311.; https://www.medgen-journal.ru/jour/article/view/2460

الاتاحة: https://www.medgen-journal.ru/jour/article/view/2460
https://doi.org/10.25557/2073-7998.2024.04.25-37

المؤلفون: D. V. Sidorenko, Sergey V. Lapin, V. D. Nazarov, V. L. Emanuel

المصدر: Medical alphabet. :13-19

مصطلحات موضوعية: 0301 basic medicine, business.industry, Fatty liver, Non alcoholic, Disease, Bioinformatics, medicine.disease, Pathogenesis, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Medicine, 030211 gastroenterology & hepatology, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f5e6ff4a9af0cb6ee44cdb06c46c05bf
https://doi.org/10.33667/2078-5631-2020-5-13-19

المؤلفون: V. O. Ivchenko, S. D. Danilov, D. V. Sidorenko, J. Schröter, M. Wenzel, D. L. Aleynik

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://hal.archives-ouvertes.fr/docs/00/29/83/49/PDF/os-3-485-2007.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.382.8192; http://hal.archives-ouvertes.fr/docs/00/29/83/49/PDF/os-3-485-2007.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.382.8192
http://hal.archives-ouvertes.fr/docs/00/29/83/49/PDF/os-3-485-2007.pdf

المؤلفون: V. O. Ivchenko, S. D. Danilov, D. V. Sidorenko, M. Wenzel, D. L. Aleynik

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.ocean-sci.net/3/485/2007/os-3-485-2007.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.657.5117; http://www.ocean-sci.net/3/485/2007/os-3-485-2007.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.657.5117
http://www.ocean-sci.net/3/485/2007/os-3-485-2007.pdf

المؤلفون: V. O. Ivchenko, S. D. Danilov, D. V. Sidorenko, J. Schroeter, M. Wenzel, D. L. Aleynik

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://hal.archives-ouvertes.fr/docs/00/29/84/77/PDF/osd-4-441-2007.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.382.5923; http://hal.archives-ouvertes.fr/docs/00/29/84/77/PDF/osd-4-441-2007.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.382.5923
http://hal.archives-ouvertes.fr/docs/00/29/84/77/PDF/osd-4-441-2007.pdf