Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Elena, Bliznetz"'
Autor:
Olga Shatokhina, Nailya Galeeva, Anna Stepanova, Tatiana Markova, Maria Lalayants, Natalia Alekseeva, George Tavarkiladze, Liudmila Bessonova, Marina Petukhova, Daria Guseva, Inga Anisimova, Alexander Polyakov, Oxana Ryzhkova, Elena Bliznetz
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 24, p 15748 (2022)
Hearing loss is one of the most genetically heterogeneous disorders known. Over 120 genes are reportedly associated with non-syndromic hearing loss (NSHL). To date, in Russia, there have been relatively few studies that apply massive parallel sequenc
Externí odkaz:
https://doaj.org/article/578773df591d47369797bab55a7b153d
Autor:
Tatiana Markova, Natalia Alekseeva, Maria Lalayants, Oxana Ryzhkova, Olga Shatokhina, Nailya Galeeva, Elena Bliznetz, Oleg Belov, Svetlana Chibisova, Alexander Polyakov, George Tavartkiladze
Publikováno v:
Journal of Personalized Medicine; Volume 12; Issue 11; Pages: 1843
Congenital and early onset bilateral sensorineural hearing loss (SNHL) is mainly caused by mutations in numerous genes. The introduction of universal newborn hearing screening (UNHS) has increased the number of infants with mild, moderate, and modera
Autor:
Aisen V Solovyev, Alena Kushniarevich, Elena Bliznetz, Marita Bady-Khoo, Maria R Lalayants, Tatiana G Markova, Gabriel Minárik, L'udevít Kádasi, Ene Metspalu, Vera G Pshennikova, Fedor M Teryutin, Anatoly N Alekseev, Elza K Khusnutdinova, Alexander Poliakov, Mait Мetspalu, Olga L Posukh, Nikolay A Barashkov, Sardana A Fedorova
The mutations in the GJB2 gene are known to be a major cause of autosomal recessive deafness 1A (OMIM 220290). The most common pathogenic variants of the GJB2 gene have high ethno-geographic specificity in their distribution that being attributed to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1a1dcbfd6f9ec92417babfcf62bd10b3
https://doi.org/10.21203/rs.3.rs-670020/v1
https://doi.org/10.21203/rs.3.rs-670020/v1
Autor:
Aisen V, Solovyev, Alena, Kushniarevich, Elena, Bliznetz, Marita, Bady-Khoo, Maria R, Lalayants, Tatiana G, Markova, Gabriel, Minárik, L'udevít, Kádasi, Ene, Metspalu, Vera G, Pshennikova, Fedor M, Teryutin, Elza K, Khusnutdinova, Alexander, Poliakov, Mait, Metspalu, Olga L, Posukh, Nikolay A, Barashkov, Sardana A, Fedorova
Publikováno v:
Human genetics. 141(3-4)
Mutations in the GJB2 gene are known to be a major cause of autosomal recessive deafness 1A (OMIM 220290). The most common pathogenic variants of the GJB2 gene have a high ethno-geographic specificity in their distribution, being attributed to a foun
Autor:
Knappskog, S., Gansmo, L. B., Dibirova, K., Metspalu, A., Cybulski, C., Peterlongo, P., Aaltonen, L., Vatten, L., Romundstad, P., Hveem, K., Devilee, P., Evans, G. D., Lin, D., Camp, G. V., Manolopoulos, V. G., Osorio, A., Milani, L., Ozcelik, T., Zalloua, P., Mouzaya, F., Elena Bliznetz, Balanovska, E., Pocheshkova, E., Kucinskas, V., Atramentova, L., Nymadawa, P., Titov, K., Lavryashina, M., Yusupov, Y., Bogdanova, N., Koshel, S., Zamora, J., Wedge, D. C., Charlesworth, D., Dörk, T., Balanovsky, O., Lønning, P. E.
Publikováno v:
OncoTarget
Scopus-Elsevier
University of Manchester-PURE
ResearcherID
Oncotarget
Knappskog, S, Gansmo, L B, Dibirova, K, Metspalu, A, Cybulski, C, Peterlongo, P, Aaltonen, L, Vatten, L, Romundstad, P, Hveem, K, Devilee, P, Evans, G D, Lin, D, Van Camp, G V, Manolopoulos, V G, Osorio, A, Milani, L, Ozcelik, T, Zalloua, P, Mouzaya, F, Bliznetz, E, Balanovska, E, Pocheshkova, E, Kucinskas, V, Atramentova, L, Nymadawa, P, Titov, K, Lavryashina, M, Yusupov, Y, Bogdanova, N, Koshel, S, Zamora, J, Wedge, D C, Charlesworth, D, Dörk, T, Balanovsky, O & Lønning, P E 2014, ' Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649) ', Oncotarget, vol. 5, no. 18, pp. 8223-8234 . https://doi.org/10.18632/oncotarget.1910
Oncotarget, 5(18), 8223-8234
Europe PubMed Central
University of Helsinki
Scopus-Elsevier
University of Manchester-PURE
ResearcherID
Oncotarget
Knappskog, S, Gansmo, L B, Dibirova, K, Metspalu, A, Cybulski, C, Peterlongo, P, Aaltonen, L, Vatten, L, Romundstad, P, Hveem, K, Devilee, P, Evans, G D, Lin, D, Van Camp, G V, Manolopoulos, V G, Osorio, A, Milani, L, Ozcelik, T, Zalloua, P, Mouzaya, F, Bliznetz, E, Balanovska, E, Pocheshkova, E, Kucinskas, V, Atramentova, L, Nymadawa, P, Titov, K, Lavryashina, M, Yusupov, Y, Bogdanova, N, Koshel, S, Zamora, J, Wedge, D C, Charlesworth, D, Dörk, T, Balanovsky, O & Lønning, P E 2014, ' Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649) ', Oncotarget, vol. 5, no. 18, pp. 8223-8234 . https://doi.org/10.18632/oncotarget.1910
Oncotarget, 5(18), 8223-8234
Europe PubMed Central
University of Helsinki
The MDM2 promoter SNP285C is located on the SNP309G allele. While SNP309G enhances Sp1 transcription factor binding and MDM2 transcription, SNP285C antagonizes Sp1 binding and reduces the risk of breast-, ovary- and endometrial cancer. Assessing SNP2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::08f740fe57862b8c570499e9bcb0fb2e
https://hdl.handle.net/1956/9550
https://hdl.handle.net/1956/9550