Zobrazeno 1 - 9
of 9
pro vyhledávání: '"E. A. Kamenets"'
Publikováno v:
Современная ревматология, Vol 14, Iss 3, Pp 102-110 (2020)
The paper is devoted to the assessment of the R92Q (p.Arg121Gln) mutation/polymorphism in the TNFRSF1A gene associated with the monogenic autoinflammatory disease – Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS). It gives data
Externí odkaz:
https://doaj.org/article/6ea560f6fc48442fa8cca606d772239d
Publikováno v:
Современная ревматология, Vol 11, Iss 3, Pp 33-43 (2017)
Autoinflammatory diseases (AIDs) are being intensively studied. Molecular genetic testing of patients is of great importance for the diagnosis of AIDs since the basis for its development is pathological mutations that cause innate (antigen-nonspecifi
Externí odkaz:
https://doaj.org/article/48a71651a7dd4d8e8740e35d9f63fd0b
Publikováno v:
Научно-практическая ревматология, Vol 54, Iss 3, Pp 271-280 (2016)
Autoinflammatory diseases (AIDs) are characterized by periodic, sometimes self-limiting attacks that appear as fever and clinical symptoms resembling rheumatic ones, in the absence of autoimmune or infectious diseases. The group of AIDs encompasses a
Externí odkaz:
https://doaj.org/article/0afa4d2088744fc6bc4005edc308ea5f
Autor:
S.G. Radenska-Lopovok, A.N. Shapovalenko, E.S. Fedorov, I.P. Nikishina, S.O. Salugina, V.G. Matkava, E.Yu. Zakharova, E. A. Kamenets
Publikováno v:
Pediatria. Journal named after G.N. Speransky. 100:99-109
Blau syndrome (BS) is a rare monogenic granulomatous autoinflammatory disease (a variant of genetically determined sarcoidosis) caused by a mutation of the NOD2/CARD15 gene, transmitted in an autosomal dominant manner and manifested by a triad of sig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5381a27cffe3fd03a17a0a9b6b4ae0bf
https://doi.org/10.24110/0031-403x-2021-100-5-99-109
https://doi.org/10.24110/0031-403x-2021-100-5-99-109
Publikováno v:
Modern Rheumatology Journal. 14:102-110
The paper is devoted to the assessment of the R92Q (p.Arg121Gln) mutation/polymorphism in the TNFRSF1A gene associated with the monogenic autoinflammatory disease – Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS). It gives data
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3cbe0b90c877434900f1aad5d99ee080
https://doi.org/10.14412/1996-7012-2020-3-102-110
https://doi.org/10.14412/1996-7012-2020-3-102-110
Autor:
E. A. Kamenets, Elena A. Gusarova, T.V. Strokova, Maria Melikyan, Natalia V. Milovanova, Ekaterina Zakharova, Irina Georgievna Rybkina, Irina V. Garyaeva, Natalia V. Nikitina, Yulia S. Itkis
Publikováno v:
JIMD Reports
JIMD Reports, Vol 53, Iss 1, Pp 39-44 (2020)
JIMD Reports, Vol 53, Iss 1, Pp 39-44 (2020)
Glycogen storage disease type 0 (GSD 0) is an autosomal recessive disorder of glycogen metabolism caused by mutations in the GYS2 gene manifesting in infancy or early childhood and characterized by ketotic hypoglycemia after prolonged fasting, and po
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ab0697f1a812d1b48681055249717f4
https://doi.org/10.1002/jmd2.12082
https://doi.org/10.1002/jmd2.12082
Publikováno v:
Современная ревматология, Vol 11, Iss 3, Pp 33-43 (2017)
Autoinflammatory diseases (AIDs) are being intensively studied. Molecular genetic testing of patients is of great importance for the diagnosis of AIDs since the basis for its development is pathological mutations that cause innate (antigen-nonspecifi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::092ab283dc023c81aae5b8adec09c255
https://mrj.ima-press.net/mrj/article/view/772
https://mrj.ima-press.net/mrj/article/view/772
Autor:
E.Yu. Zakharova Zakharova, M. Yu. Skoblov, S.V. Mikhaylova, O. S. Gundobina, Igor Bychkov, A. Yu. Filatova, T.V. Strokova, E. A. Kamenets
Publikováno v:
Molecular genetics and metabolism. 127(3)
Lysosomal acid lipase deficiency (LALD; MIM# 278000 ) is a continuum of autosomal recessive diseases caused by defects in the gene LIPA and historically divided into two phenotypes: severe infantile-onset form called Wolman disease (WD) and childhood
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83d61f4595e1feec0fe28322c3ef5a06
https://pubmed.ncbi.nlm.nih.gov/31230978
https://pubmed.ncbi.nlm.nih.gov/31230978
Autor:
E. A. Kamenets, Madlena Bagaeva, Alla Lavrova, Galina Baydakova, S.V. Mikhaylova, T.V. Strokova, Natalia Pichkur, Ekaterina Zakharova, Maria Amelina
Publikováno v:
Atherosclerosis. 263:e60
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::42023dbf5cd14998aae786d1cb7bd4f0
https://doi.org/10.1016/j.atherosclerosis.2017.06.203
https://doi.org/10.1016/j.atherosclerosis.2017.06.203