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1Academic Journal
المؤلفون: E. Marnat G., T. Sorokina M., M. Shtaut I., A. Sedova O., T. Adyan A., A. Stepanova A., T. Beskorovaynaya S., A. Polyakov V., L. Kurilo F., V. Chernykh B., Е. Марнат Г., Т. Сорокина М., М. Штаут И., А. Седова О., Т. Адян А., А. Степанова А., Т. Бескоровайная С., А. Поляков В., Л. Курило Ф., В. Черных Б.
المصدر: Medical Genetics; Том 20, № 5 (2021); 34-40 ; Медицинская генетика; Том 20, № 5 (2021); 34-40 ; 2073-7998
مصطلحات موضوعية: CFTR gene, CBAVD syndrome, male infertility, azoospermia, ген CFTR, синдром CBAVD, мужское бесплодие, азооспермия
وصف الملف: application/pdf
Relation: https://www.medgen-journal.ru/jour/article/view/1910/1490; Claustres M. Molecular pathology of the CFTR locus in male infertility. Reprod Biomed Online. 2005; 10 (1): 14-41.; Anguiano A., Oates R.D., Amos J.A. et al. Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. JAMA. 1992; 267: 1794-1797.; Chillon M., Casals Т., Mercier B. et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. New Eng. J. Med. 1995; 332 (22):1475-1480.; Schwiebert E.M., Benos D.J., Egan M.E. et al. CFTR is a conductance regulator as well as a chloride channel. Physiol. Rev. 1999; 79(S 1): S145-S166.; Braekeleer M., Ferec C. Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens. Mol. Hum. Reprod. 1996; 2: 669-677.; Dork Т., Dworniczak В., Aulehla Scholz C. et al. Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. Hum. Genet. 1997; 100: 365-377.; Claustres M., Guittard C., Bozon D. et al. Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. Hum. Mutat. 2000; 16: 143-156.; Bieth E., Hamdi S.M., Mieusset R. Genetics of the congenital absence of the vas deferens. Hum Genet. 2021 Jan;140(1):59-76. doi:10.1007/s00439-020-02122-w.; Руководство ВОЗ по исследованию и обработке эякулята человека. Пер. с англ. Макарова Н.П. Науч. ред. Курило Л.Ф. 5-е изд. М.: Капитал Принт, 2012. 291 с.; Черных В.Б., Степанова А.А, Бескоровайная Т.С. и др. Частота и спектр мутаций и IVS8-T-полиморфизма гена CFTR среди российских мужчин с бесплодием. Генетика. 2010; 46(6):. 844-852.; Chiang H., Lu J., Liu C., Wu Y., Wu C. CFTR (TG)m(T)n polymorphism in patients with CBAVD in a population expressing low incidence of cystic fibrosis. Clin. Genet. 2009; 76:282-286.; Casals T., Bassas L., Egozcue S. et al. Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens. Hum. Reprod. 2000 Jul;15(7):1476-83.; Штаут М.И., Сорокина Т.М., Курило Л.Ф., Шмарина Г.В., Марнат Е.Г., Репина С.А., Красовский С.А., Черных В.Б. Сравнительный анализ результатов спермиологического исследования у пациентов с азооспермией, вызванной муковисцидозом и синдромом врожденной двусторонней аплазии семявыносящих протоков. Андрология и генитальная хирургия. 2019;20(1):82-90. https:doi.org/10.17650/2070-9781-2019-20-1-82-90; Wu C.C., Hsieh-Li H.M., Lin Y.M. et al. Cystic fibrosis transmembrane conductance regulator gene screening and clinical correlation in Taiwanese males with congenital bilateral absence of the vas deferens. Hum Reprod. 2004; 19 (2): 250-253.; Sharma N., Acharya N., Singh S.K., et al. Heterogenous spectrum of CFTR gene mutations in Indian patients with congenital absence of vas deferens. Hum Reprod. 2009; 24 (5): 1229-1236. doi 10.1093/humrep/den500; Li H., Wen Q., Zhao L. et al. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) in Chinese patients with congenital bilateral absence of vas deferens. J Cyst Fibros. 2012 Jul;11(4):316-23. doi 10.1016/j.jcf.2012.01.005; Yang B., Wang J., Zhang W. et al. Pathogenic role of ADGRG2 in CBAVD patients replicated in Chinese population. Andrology. 2017; 5:954-957.; Patat O., Pagin A., Siegfried A. et al. Truncating Mutations in the Adhesion G Protein-coupled receptor G2 gene ADGRG2 cause an X-Linked congenital bilateral absence of vas deferens. Am J Hum Genet. 2016; 99(2): 437-442.; Chiang H.S., Wang Y.Y., Lin Y.H., Wu Y.N. The role of SLC9A3 in Taiwanese patients with congenital bilateral absence of vas deferens (CBAVD). J Formos Med Assoc. 2019 Dec; 118(12):1576-1583.; Von Eckardstein S., Cooper T.G., Rutscha K., Meschede D., Horst J., Nieschlag E. Seminal plasma characteristics as indicators of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in men with obstructive azoospermia. Fertil Steril. 2000 Jun; 73(6):1226-31. doi:10.1016/s0015-0282(00)00516-1.; https://www.medgen-journal.ru/jour/article/view/1910
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2Academic Journal
المؤلفون: E. Marnat G., T. Adyan A., A. Stepanova A., T. Beskorovainaya S., A. Polyakov V., V. Chernykh B., Е. Марнат Г., Т. Адян А., А. Степанова А., Т. Бескоровайная С., А. Поляков В., В. Черных Б.
المصدر: Medical Genetics; Том 19, № 3 (2020); 93-95 ; Медицинская генетика; Том 19, № 3 (2020); 93-95 ; 2073-7998
مصطلحات موضوعية: патозооспермия, ген CFTR, 5Т аллель, мужское бесплодие, CBAVD, pathozoospermia, CFTR gene, 5N allele, male infertility
وصف الملف: application/pdf
Relation: https://www.medgen-journal.ru/jour/article/view/848/520; https://www.medgen-journal.ru/jour/article/view/848
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3Academic Journal
المؤلفون: T. Beskorovainaya S., T. Milovidova B., O. Shchagina A., A. Polyakov V., Т. Бескоровайная С., Т. Миловидова Б., О. Щагина А., А. Поляков В.
المصدر: Medical Genetics; Том 15, № 3 (2016); 23-29 ; Медицинская генетика; Том 15, № 3 (2016); 23-29 ; 2073-7998
مصطلحات موضوعية: гемофилия, прямая ДНК-диагностика, инверсия интрона 22, инвертированная ПЦР, hemophilia, F8, Inv22, Inverse PCR
وصف الملف: application/pdf
Relation: https://www.medgen-journal.ru/jour/article/view/102/90; Mannucci PM, Tuddenham EG. The hemophilias-from royal genes to gene therapy. N Engl J Med. 2001 Jun 7;344(23):1773-9. Review. Erratum in: N Engl J Med 2001 Aug 2;345(5):384.; Antonarakis SE, Kazazian HH, Tuddenham EG. Molecular etiology of factor VIII deficiency in hemophilia A. Hum Mutat. 1995;5(1):1-22. Review.; Sung Ho Hwang, Hee-Jin Kim and Hye Sun Kim (2012). Chapter 1 «Profiling of Mutations in the F8 and F9, Causative Genes of Hemophilia A and Hemophilia B», Hemophilia, Dr. Angelika Batorova (Ed.), ISBN: 978-953-51-0429-2, InTech, Available from: http://www.intechopen.com/books/ hemophilia/profiling-of-mutations- in-the-f8-and-f9-causative-genes- of-hemophilia-a-and-hemophilia-b; Naylor J, Brinke A, Hassock S, Green PM, Giannelli F. Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. Hum Mol Genet. 1993 Nov;2(11):1773-8.; Levinson B, Kenwrick S, Lakich D et al. A transcribed gene in an intron of the human factor Vlll gene. Genomics. 1990; (7): 1-11.; Sauna ZE, Lozier JN, Kasper CK et al. Theintron-22-inverted F8 locus permits factor VIII synthesis: explanation for lowinhibitor risk and a role for pharmacogenomics. Blood. 2015 Jan 8;125(2):223-8; Rossetti LC, Radic CP, Abelleyro MM et al. Eighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-PCR. Int J Mol Sci. 2011;12(10):7271-85.; Rossetti LC, Radic CP, Larripa IB, De Brasi CD. Genotyping the hemophilia inversion hotspot by use of inverse PCR. Clin Chem. 2005 Jul;51(7):1154-8.; https://www.medgen-journal.ru/jour/article/view/102