Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Marina V. Kurkina"'
Autor:
Elena V. Saifullina, Rim V. Magzhanov, Anzhelika I. Davletova, Al’bina K. Mardanova, Ekaterina A. Timofeyeva, Marina V. Kurkina, Ekaterina Yu. Zakharova
Publikováno v:
Анналы клинической и экспериментальной неврологии, Vol 14, Iss 2, Pp 88-92 (2020)
Glutaric aciduria type I is an autosomal recessive disease caused by mutations in the GCDH gene, which encodes the glutaryl-CoA-dehydrogenase enzyme. A lack of this enzyme leads to the accumulation of glutaric and 3-OH-glutaric (3-hydroxyglutaric) ac
Externí odkaz:
https://doaj.org/article/9d772b4a9a2c43869b3bae4ffcd15863
Autor:
Alena S. Limonova, Alexandra I. Ershova, Alexey N. Meshkov, Anna V. Kiseleva, Mikhail G. Divashuk, Marina V. Kurkina, Oxana M. Drapkina
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 8 (2022)
We reported a case of sitosterolemia, which is a rare genetic disease, characterized by increased plant sterol absorption and great heterogeneity of clinical manifestations. Our patient was initially referred to the lipid clinic due to high cholester
Externí odkaz:
https://doaj.org/article/5c21cccf1e2b488898712ae83db851c8
Autor:
Natalia A. Semenova, Marina V. Kurkina, Andrey V. Marakhonov, Elena L. Dadali, Natalia N. Taran, Tatyana V. Strokova
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100754- (2021)
Background: Peroxisome biogenesis disorders (PBD) are a heterogeneous group of autosomal recessive disorders that affect multiple organ systems. Approximately 80% of PBD patients are classifiedin the Zellweger syndrome spectrum, which is generally ca
Externí odkaz:
https://doaj.org/article/f5a8df47e2d54e0e82af3a5a7d25b8f6
Autor:
Elena L. Dadali, Andrey V. Marakhonov, Natalia N. Taran, Natalia A. Semenova, Marina V. Kurkina, Tatyana V. Strokova
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 27, Iss, Pp 100754-(2021)
Background Peroxisome biogenesis disorders (PBD) are a heterogeneous group of autosomal recessive disorders that affect multiple organ systems. Approximately 80% of PBD patients are classifiedin the Zellweger syndrome spectrum, which is generally cau
Autor:
Igor Bychkov, N.L. Sheremet, Tatiana D. Krylova, Natalia L. Pechatnikova, Polina G. Tsygankova, Marina V. Kurkina, Yulia S. Itkis, Ekaterina Zakharova, Viktoria V. Zabnenkova, Aleksandra A. Ilyushkina, S.V. Mikhaylova
Publikováno v:
Journal of Inherited Metabolic Disease. 42:918-933
Recently, the plasma cytokines FGF-21 and GDF-15 were described as cellular metabolic regulators. They share an endocrine function and are highly expressed in the liver under stress and during starvation. Several studies found that these markers have
Autor:
Mikhail Skoblov, Marina V. Kurkina, Andrey Nekrasov, Galina Baydakova, Artur Galushkin, Alexandra Ilyushkina, Igor Bychkov, Alexandra Filatova, Ekaterina Zakharova
Publikováno v:
International Journal of Molecular Sciences
Volume 22
Issue 8
International Journal of Molecular Sciences, Vol 22, Iss 4154, p 4154 (2021)
Volume 22
Issue 8
International Journal of Molecular Sciences, Vol 22, Iss 4154, p 4154 (2021)
It is estimated that up to one-third of all variants causing inherited diseases affect splicing
however, their deleterious effects and roles in disease pathogenesis are often not fully characterized. Given their prevalence and the development of
however, their deleterious effects and roles in disease pathogenesis are often not fully characterized. Given their prevalence and the development of
Autor:
Marina V. Kurkina, Maria Kareva, Elizaveta Orlova, Ekaterina Zakharova, Anna A. Antonets, Leila S. Sozaeva, Ilya V. Kanivets
Publikováno v:
Problems of Endocrinology. 63:329-333
Contiguous gene syndromes (CGS) are the disorders caused by chromosomal abnormalities: deletions, duplications, or other complex rearrangements that alter gene dosage. Initially, before their chromosomal nature is elucidated, they may be misdiagnosed
Autor:
Ilya V. Kanivets, Maksim A Yunin, Galina Baydakova, Elena V. Saifullina, Denis V Pyankov, Natalya L Pechatnikova, Ekaterina Zakharova, Sergey Korostelev, Marina V. Kurkina, Svetlana V Mihaylova
Publikováno v:
Metabolic brain disease. 35(6)
Glutaric aciduria type 1 (GA1, deficiency of glutaryl CoA dehydrogenase, glutaric acidemia type 1) (ICD-10 code: E72.3; MIM 231670) is an autosomal recessive disease caused by mutations in the gene encoding the enzyme glutaryl CoA dehydrogenase (GCDH
Publikováno v:
Neuroscience and Behavioral Physiology. 43:1143-1149
Ataxia with oculomotor apraxia (AOA) is a subgroup of the autosomal recessive ataxias with a characteristic oculomotor apraxia: difficulty in transferring and fixing gaze, inability to direct the eyes to a specified side, not due to muscle weakness.
Autor:
E V Gaisina, E N Zakirova, Elena V. Saifullina, E Yu Zakharova, Marina V. Kurkina, R. V. Magzhanov
Publikováno v:
Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova. 117:81
The authors present a case-report of 13 year-old girl with L-2-hydroxyglutaric aciduria [MIM#236792], a rare autosomal/recessive metabolic disorder caused by mutations in the L-encoding 2-hydroxyglutarate dehydrogenase (L2HGDH, 14q21.3). Clinical sig