Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Hayane, Akopyan"'
Autor:
Oksana Boyarchuk, Larysa Kostyuchenko, Hayane Akopyan, Anastasiia Bondarenko, Alla Volokha, Anna Hilfanova, Ihor Savchak, Liliia Nazarenko, Nataliia Yarema, Olha Urbas, Iryna Hrabovska, Oleksandr Lysytsia, Andrii Budzyn, Oksana Tykholaz, Mariana Ivanchuk, Olha Bastanohova, Erika Patskun, Nataliia Vasylenko, Yuriy Stepanovskyy, Liudmyla Chernyshova, Halyna Makukh
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
IntroductionNijmegen breakage syndrome (NBS) is an autosomal recessive disorder, characterized by microcephaly, immunodeficiency, and impaired DNA repair. NBS is most prevalent among Slavic populations, including Ukraine. Our study aimed to comprehen
Externí odkaz:
https://doaj.org/article/8fb6ab1f5e0b463ebf94b246bec0cece
Autor:
Svetlana O. Sharapova, Olga E. Pashchenko, Anastasiia V. Bondarenko, Svetlana S. Vakhlyarskaya, Tatjana Prokofjeva, Alina S. Fedorova, Ihor Savchak, Yuliya Mareika, Timur T. Valiev, Alexander Popa, Irina A. Tuzankina, Elena V. Vlasova, Inga S. Sakovich, Ekaterina A. Polyakova, Natalia V. Rumiantseva, Irina V. Naumchik, Svetlana A. Kulyova, Svetlana N. Aleshkevich, Elena I. Golovataya, Nina V. Minakovskaya, Mikhail V. Belevtsev, Elena A. Latysheva, Tatiana V. Latysheva, Alexander G. Beznoshchenko, Hayane Akopyan, Halyna Makukh, Olena Kozlova, Dzmitry S. Varabyou, Mark Ballow, Mei-Sing Ong, Jolan E. Walter, Irina V. Kondratenko, Larysa V. Kostyuchenko, Olga V. Aleinikova
Publikováno v:
Frontiers in Immunology, Vol 11 (2021)
Nijmegen breakage syndrome (NBS) is a DNA repair disorder characterized by combined immunodeficiency and a high predisposition to lymphoid malignancies. The majority of NBS patients are identified with a homozygous five base pair deletion in the Nibr
Externí odkaz:
https://doaj.org/article/e6926b6147044ceab5e302498150276d
Autor:
Tú Nguyen-Dumont, Aleksander Myszka, Pawel Karpinski, Maria M. Sasiadek, Hayane Akopyan, Fleur Hammet, Helen Tsimiklis, Daniel J. Park, Bernard J. Pope, Ryszard Slezak, Nataliya Kitsera, Aleksandra Siekierzynska, Melissa C. Southey
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-7 (2018)
Abstract Background FANCM and RECQL have recently been reported as breast cancer susceptibility genes and it has been suggested that they should be included on gene panel tests for breast cancer predisposition. However, the clinical value of testing
Externí odkaz:
https://doaj.org/article/96ff13b8f46445d7b4cd9c3890c51824
Publikováno v:
Polish Archives of Internal Medicine.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::982d90627fb5b6a5634662b1e8bbc94f
https://doi.org/10.20452/pamw.16425
https://doi.org/10.20452/pamw.16425
Autor:
Jędrzej Nowaczyk, Anna Walczak, Hayane Akopyan, Beata Pyrżak, Rafał Płoski, Krzysztof Szczałuba, Małgorzata Rydzanicz, Marya Dushar, Robert Śmigiel
Publikováno v:
European journal of medical genetics. 64(12)
Activating mutation in the insulin signal-transducing kinase AKT2 results in severe hypoinsulinemic hypoketotic hypoglycemia and a characteristic phenotype of possible overgrowth and, sometimes, acanthosis nigricans. Herein, we describe a metabolic a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd9848343dd53659aa2e6f54b00508e4
https://pubmed.ncbi.nlm.nih.gov/34673243
https://pubmed.ncbi.nlm.nih.gov/34673243
Autor:
Ihor Savchak, Irina A. Tuzankina, E.A. Latysheva, Halyna Makukh, Anastasiia Bondarenko, Mikhail Belevtsev, Inga S. Sakovich, Elena I. Golovataya, Svetlana A. Kulyova, Larysa Kostyuchenko, Jolan E. Walter, Alexander Popa, Dzmitry S. Varabyou, Natalia V. Rumiantseva, Mei-Sing Ong, Alexander G. Beznoshchenko, Svetlana S. Vakhlyarskaya, Mark Ballow, Ekaterina A. Polyakova, Olga E. Pashchenko, Olga Aleinikova, Yuliya Mareika, Svetlana Aleshkevich, Elena V. Vlasova, Olena Kozlova, Svetlana O. Sharapova, Irina V. Naumchik, Nina V. Minakovskaya, Hayane Akopyan, Timur T. Valiev, Alina Fedorova, Tatjana Prokofjeva, Tatiana V. Latysheva, Irina Kondratenko
Publikováno v:
Front. Immunol.
Frontiers in Immunology
Frontiers in Immunology, Vol 11 (2021)
Frontiers in Immunology
Frontiers in Immunology, Vol 11 (2021)
Nijmegen breakage syndrome (NBS) is a DNA repair disorder characterized by combined immunodeficiency and a high predisposition to lymphoid malignancies. The majority of NBS patients are identified with a homozygous five base pair deletion in the Nibr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ea6704d815be19bddc3bbc8a9ce8b98
https://www.frontiersin.org/articles/10.3389/fimmu.2020.602482/pdf
https://www.frontiersin.org/articles/10.3389/fimmu.2020.602482/pdf
Autor:
Svetlana O, Sharapova, Olga E, Pashchenko, Anastasiia V, Bondarenko, Svetlana S, Vakhlyarskaya, Tatjana, Prokofjeva, Alina S, Fedorova, Ihor, Savchak, Yuliya, Mareika, Timur T, Valiev, Alexander, Popa, Irina A, Tuzankina, Elena V, Vlasova, Inga S, Sakovich, Ekaterina A, Polyakova, Natalia V, Rumiantseva, Irina V, Naumchik, Svetlana A, Kulyova, Svetlana N, Aleshkevich, Elena I, Golovataya, Nina V, Minakovskaya, Mikhail V, Belevtsev, Elena A, Latysheva, Tatiana V, Latysheva, Alexander G, Beznoshchenko, Hayane, Akopyan, Halyna, Makukh, Olena, Kozlova, Dzmitry S, Varabyou, Mark, Ballow, Mei-Sing, Ong, Jolan E, Walter, Irina V, Kondratenko, Larysa V, Kostyuchenko, Olga V, Aleinikova
Publikováno v:
Frontiers in Immunology
Nijmegen breakage syndrome (NBS) is a DNA repair disorder characterized by combined immunodeficiency and a high predisposition to lymphoid malignancies. The majority of NBS patients are identified with a homozygous five base pair deletion in the Nibr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::07bb64b76511e1b8ee8669a35905644f
https://pubmed.ncbi.nlm.nih.gov/33488600
https://pubmed.ncbi.nlm.nih.gov/33488600
Autor:
Tu, Nguyen-Dumont, Pawel, Karpinski, Maria M, Sasiadek, Hayane, Akopyan, Jason A, Steen, Derrick, Theys, Fleur, Hammet, Helen, Tsimiklis, Daniel J, Park, Bernard J, Pope, Ryszard, Slezak, Agnieszka, Stembalska, Karolina, Pesz, Nataliya, Kitsera, Aleksandra, Siekierzynska, Melissa C, Southey, Aleksander, Myszka
Publikováno v:
Genetics Research
Purpose To characterize the spectrum of BRCA1 and BRCA2 pathogenic germline variants in women from south-west Poland and west Ukraine affected with breast or ovarian cancer. Testing in women at high risk of breast and ovarian cancer in these regions
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bb8367e8b0d5aad206210ac6fb0a8a1d
https://pubmed.ncbi.nlm.nih.gov/32772980
https://pubmed.ncbi.nlm.nih.gov/32772980
Autor:
Aleksandra Siekierzynska, Ryszard Slezak, Melissa C. Southey, Daniel J. Park, Agnieszka Stembalska, Maria M. Sasiadek, Nataliya Kitsera, Helen Tsimiklis, Derrick Theys, Fleur Hammet, Pawel Karpinski, Jason A. Steen, Tu Nguyen-Dumont, Karolina Pesz, Aleksander Myszka, Hayane Akopyan, Bernard J. Pope
Publikováno v:
Genetics Research. 102
Purpose To characterize the spectrum of BRCA1 and BRCA2 pathogenic germline variants in women from south-west Poland and west Ukraine affected with breast or ovarian cancer. Testing in women at high risk of breast and ovarian cancer in these regions
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::344e8f7695fd13b6450358e1f3474bfe
https://doi.org/10.1017/s0016672320000075
https://doi.org/10.1017/s0016672320000075
Autor:
Maria M. Sasiadek, Nataliya Kitsera, Ryszard Slezak, Melissa C. Southey, Bernard J. Pope, Aleksandra Siekierzynska, Pawel Karpinski, Hayane Akopyan, Daniel J. Park, Tu Nguyen-Dumont, Helen Tsimiklis, Aleksander Myszka, Fleur Hammet
Publikováno v:
Familial Cancer
Loss-of-function germline mutations in the PALB2 gene are associated with an increase of breast cancer risk. The purpose of this study was to characterise the spectrum of PALB2 mutations in women affected with breast or ovarian cancer from South-West
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a44b273f0f8e1c18fb9d768da9971937
http://europepmc.org/articles/PMC5999175
http://europepmc.org/articles/PMC5999175