Zobrazeno 1 - 10
of 338
pro vyhledávání: '"S. Itkis"'
Autor:
Vicente A. Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H. Smith, Charlotte L. Alston, Rui Ban, Skadi Beblo, Riccardo Berutti, Holger Blessing, Elżbieta Ciara, Felix Distelmaier, Peter Freisinger, Johannes Häberle, Susan J. Hayflick, Maja Hempel, Yulia S. Itkis, Yoshihito Kishita, Thomas Klopstock, Tatiana D. Krylova, Costanza Lamperti, Dominic Lenz, Christine Makowski, Signe Mosegaard, Michaela F. Müller, Gerard Muñoz-Pujol, Agnieszka Nadel, Akira Ohtake, Yasushi Okazaki, Elena Procopio, Thomas Schwarzmayr, Joél Smet, Christian Staufner, Sarah L. Stenton, Tim M. Strom, Caterina Terrile, Frederic Tort, Rudy Van Coster, Arnaud Vanlander, Matias Wagner, Manting Xu, Fang Fang, Daniele Ghezzi, Johannes A. Mayr, Dorota Piekutowska-Abramczuk, Antonia Ribes, Agnès Rötig, Robert W. Taylor, Saskia B. Wortmann, Kei Murayama, Thomas Meitinger, Julien Gagneur, Holger Prokisch
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-26 (2022)
Abstract Background Lack of functional evidence hampers variant interpretation, leaving a large proportion of individuals with a suspected Mendelian disorder without genetic diagnosis after whole genome or whole exome sequencing (WES). Research studi
Externí odkaz:
https://doaj.org/article/c84ca93f6ba94f7fa60fa360f03b6d83
Autor:
Elena A. Kamenets, Elena A. Gusarova, Natalia V. Milovanova, Yulia S. Itkis, Tatiana V. Strokova, Maria A. Melikyan, Irina V. Garyaeva, Irina G. Rybkina, Natalia V. Nikitina, Ekaterina Y. Zakharova
Publikováno v:
JIMD Reports, Vol 53, Iss 1, Pp 39-44 (2020)
Abstract 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 fastin
Externí odkaz:
https://doaj.org/article/02cc71cd7bf0464c801b648e0389ef7c
Autor:
S. A. Kurbatov, P. G. Tsygankova, K. Yu. Mollaeva, I. O. Bychkov, Yu. S. Itkis, V. V. Zabnenkova, Z. R. Umakhanova, L. G. Geybatova, E. Yu. Zakharova
Publikováno v:
Нервно-мышечные болезни, Vol 9, Iss 3, Pp 67-76 (2019)
Introduction. Mitochondrial myopathy with thymidine kinase 2 deficiency and spinal muscular atrophy 5q (SMA-5q) are two potentially curable hereditary diseases with different levels of damage to the neuromuscular system and etiology. Early childhood
Externí odkaz:
https://doaj.org/article/c8547eadb9714b9699ee0f447599cffd
Autor:
Polina Gundorova, Irina A Kuznetcova, Galina V Baydakova, Anna A Stepanova, Yulia S Itkis, Victoria S Kakaulina, Irina P Alferova, Lidya V Lyazina, Lilya P Andreeva, Ilya Kanivets, Ekaterina Y Zakharova, Sergey I Kutsev, Aleksander V Polyakov
Publikováno v:
PLoS ONE, Vol 16, Iss 4, p e0249608 (2021)
A timely detection of patients with tetrahydrobiopterin (BH4) -deficient types of hyperphenylalaninemia (HPABH4) is important for assignment of correct therapy, allowing to avoid complications. Often HPABH4 patients receive the same therapy as phenyl
Externí odkaz:
https://doaj.org/article/5dbaf00685114359bc4be7ef84a9e5cb
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
Autor:
Yulia S. Itkis, P.G. Tsygankova, N.L. Sheremet, M.S. Shmelkova, N.V. Zhorzholadze, T.D. Krilova, N.A. Andreeva
Publikováno v:
POINT OF VIEW. EAST – WEST. :47-49
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::49234f36bd95940fcd34813fda4854b1
https://doi.org/10.25276/2410-1257-2020-2-47-49
https://doi.org/10.25276/2410-1257-2020-2-47-49
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::442d184b2130ef9c173ac112aae47ffc
https://doi.org/10.1002/jimd.12142
https://doi.org/10.1002/jimd.12142
Autor:
Mirjana Gusic, Elena Procopio, Vicente A. Yépez, Antonia Ribes, Riccardo Berutti, Daniele Ghezzi, Yulia S. Itkis, Rui Ban, Michaela F. Müller, Akira Ohtake, Felix Distelmaier, Tim M. Strom, Thomas Meitinger, Skadi Beblo, Gerard Muñoz-Pujol, Holger Prokisch, Tatiana D. Krylova, Christine Makowski, Yoshihito Kishita, Joél Smet, Arnaud Vanlander, Matias Wagner, Julien Gagneur, Robert Kopajtich, Holger Blessing, Charlotte L. Alston, Thomas Schwarzmayr, Signe Mosegaard, Susan J. Hayflick, Dominic Lenz, Elżbieta Ciara, Manting Xu, Maja Hempel, Kei Murayama, Costanza Lamperti, Rudy Van Coster, Yasushi Okazaki, Johannes Häberle, Caterina Terrile, Sarah L. Stenton, Fang Fang, Peter Freisinger, Robert W. Taylor, Thomas Klopstock, Saskia B. Wortmann, Johannes A. Mayr, Christian Staufner, Agnieszka Nadel, Agnès Rötig, Nicholas H. Smith, Frederic Tort, Christian Mertes, Dorota Piekutowska-Abramczuk
BackgroundLack of functional evidence hampers variant interpretation, leaving a large proportion of cases with a suspected Mendelian disorder without genetic diagnosis after genome or whole exome sequencing (WES). Research studies advocate to further
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::90c3e4fbedb693debf43ffb8dda37bfa
https://doi.org/10.1101/2021.04.01.21254633
https://doi.org/10.1101/2021.04.01.21254633
Autor:
Yulya S. Itkis, Maja Hempel, Ben Pode-Shakked, Piero Barboni, N.L. Sheremet, Polina G. Tsygankova, Riccardo Berutti, Valerio Carelli, Chiara La Morgia, Daniele Ghezzi, Leonardo Caporali, Jean-Michel Rozet, Natalia A. Andreeva, Amelie T van der Ven, Peter Charbel Issa, Wolfram S. Kunz, Sarah L. Stenton, Claudia B. Catarino, Johannes A. Mayr, Matias Wagner, Maria Lucia Cascavilla, Flavia Palombo, Reka Kovacs-Nagy, Ilka Wittig, Alessandra Maresca, Pedro Felipe Malacarne, Thomas Klopstock, Costanza Lamperti, Sylvie Gerber, Cornelia Kornblum, Holger Prokisch, Nino V. Zhorzholadze, Jana Meisterknecht, Robert Kopajtich, Tatiana A. Nevinitsyna, Ekaterina Zakharova, Michele Carbonelli, Tatiana D. Krylova, Michal Tzadok, Elisabeth Graf, Zahra Assouline, Francesca Tagliavini, Josseline Kaplan, Maria S. Shmelkova, Mariantonietta Capristo, Elise Héon, Ortal Barel, Peter Freisinger, Elisheva Javasky, Igor Bychkov, Christina Ludwig, Tim M. Strom, Catherine Vignal-Clermont, Juliana Heidler
Publikováno v:
The journal of clinical investigation 131(6), e138267 (2021). doi:10.1172/JCI138267
J Clin Invest
J Clin Invest
Leber's hereditary optic neuropathy (LHON) is the most frequent mitochondrial disease and was the first to be genetically defined by a point mutation in mitochondrial DNA (mtDNA). A molecular diagnosis is achieved in up to 95% of cases, the vast majo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24bf545cda9fb173a8ffc9ec90e829e6
https://doi.org/10.1172/jci138267
https://doi.org/10.1172/jci138267
Autor:
Irina P Alferova, Lilya P Andreeva, Aleksander V. Polyakov, Anna A. Stepanova, Victoria S. Kakaulina, Ekaterina Zakharova, Ilya V. Kanivets, Galina Baydakova, Sergey I. Kutsev, Irina A Kuznetcova, Lidya V Lyazina, Polina Gundorova, Yulia S. Itkis
Publikováno v:
PLoS ONE, Vol 16, Iss 4, p e0249608 (2021)
PLoS ONE
PLoS ONE
A timely detection of patients with tetrahydrobiopterin (BH4) -deficient types of hyperphenylalaninemia (HPABH4) is important for assignment of correct therapy, allowing to avoid complications. Often HPABH4 patients receive the same therapy as phenyl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95a46d8d080f4af0fc8f79e3f12b1dd5
https://doaj.org/article/5dbaf00685114359bc4be7ef84a9e5cb
https://doaj.org/article/5dbaf00685114359bc4be7ef84a9e5cb