Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Polina Gundorova"'
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:
Polina Gundorova, Anna A Stepanova, Irina A Kuznetsova, Sergey I Kutsev, Aleksander V Polyakov
Publikováno v:
PLoS ONE, Vol 14, Iss 1, p e0211048 (2019)
Phenylalanine hydroxylase (PAH) deficiency is responsible for most cases of phenylketonuria (PKU). Furthermore, numerous studies on BH4-sensitive PAH deficiency have been conducted. To date, BH4, a cofactor of PAH, has not been used to treat PKU in R
Externí odkaz:
https://doaj.org/article/eeb463ec45e64690b4f4972f70970559
Autor:
Rena A. Zinchenko, Amin Kh. Makaov, Andrey V. Marakhonov, Varvara A. Galkina, Vitaly V. Kadyshev, Galina I. El’chinova, Elena L. Dadali, Lyudmila K. Mikhailova, Nika V. Petrova, Nina E. Petrina, Tatyana A. Vasilyeva, Polina Gundorova, Alexander V. Polyakov, Oksana Y. Alexandrova, Sergey I. Kutsev, Eugeny K. Ginter
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 1, p 325 (2020)
Prevalence and allelic heterogeneity of hereditary diseases (HDs) could vary significantly in different human populations. Current knowledge of HDs distribution in populations is generally limited to either European data or analyses of isolated popul
Externí odkaz:
https://doaj.org/article/5b68fc1b414f4ae09b2aec386b5df3ed
Autor:
Polina Gundorova, Rena A Zinchenko, Irina A Kuznetsova, Elena A Bliznetz, Anna A Stepanova, Aleksander V Polyakov
Publikováno v:
PLoS ONE, Vol 13, Iss 8, p e0201489 (2018)
Phenylketonuria is an inherited disease caused by mutations in the phenylalanine hydroxylase gene PAH. Different PAH pathogenic variants occur in different ethnic groups with various frequencies and the incidence of the disease itself varies from cou
Externí odkaz:
https://doaj.org/article/570b62a7c4f0497da42b047ea3d83800
Autor:
Evgenii V. Melchenko, Polina Gundorova, Vladimir Kenis, Tatyana V. Markova, Elena L. Dadali, Nina Demina, Tatyana S. Nagornova
Publikováno v:
Pediatric Traumatology, Orthopaedics and Reconstructive Surgery. 8:451-460
Background. SaulWilson syndrome (SWS, microcephalic osteodysplastic dysplasia) is a rare genetic variant of skeletal dysplasia and is determined based on the modern classification for thin bone dysplasias. To date, 16 patients with SWS from different
Autor:
Roeland A F Evers, Mariusz Ołtarzewski, Georg F. Hoffmann, Vincenzo Leuzzi, Emil Polak, Youngguo Yu, Maria Gizewska, Belén Pérez, Ana Chiesa, Marianne Rohrbach, Alexander V. Polyakov, Lena Fajkusova, Maja Stojiljkovic, Carla Carducci, Beat Thöny, Farès Namour, Jerry Vockley, Andrea Paras, Francjan J. van Spronsen, François Feillet, Sabine Scholl-Bürgi, Francesco Porta, Amaya Belanger-Quintana, Anastasia Skouma, Barbara K. Burton, Pedro E. Bonfim-Freitas, Sergey I. Kutsev, Johannes Zschocke, Uta Lichter-Konecki, Luiz Carlos Santana da Silva, Katya Kneller, Lourdes R. Desviat, Sven F. Garbade, Aviva Eliyahu, Alicia Hillert, Vera Stoppioni, Nenad Blau, Polina Gundorova, Norma Specola, Yair Anikster, John Christodoulou, Alberto Burlina, Maja Đorđević, Daniela Karall, Harvey L. Levy, Nan Shen, Friedrich K. Trefz, Ania C. Muntau
Publikováno v:
Am J Hum Genet
American Journal of Human Genetics, 107(2), 234-250. CELL PRESS
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
American Journal of Human Genetics, 107(2), 234-250. CELL PRESS
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Phenylketonuria (PKU), caused by variants in the phenylalanine hydroxylase (PAH) gene, is the most common autosomal-recessive Mendelian phenotype of amino acid metabolism. We estimated that globally 0.45 million individuals have PKU, with global prev
Autor:
O. Kvlividze, Alexander V. Polyakov, I. A. Kuznetsova, L. Margvelashvili, D. Agladze, Polina Gundorova, E. Kldiashvili, Sergey I. Kutsev
Publikováno v:
Russian Journal of Genetics. 55:1025-1032
A molecular-genetic study of the full mutation spectrum in phenylketonuria (PKU) in patients from Georgia was conducted for the first time. The frequency of PKU according to neonatal screening over 15 years was 1 : 6111 newborns. One hundred forty pr
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
Autor:
Alexander V. Polyakov, Amin Kh. Makaov, V. V. Kadyshev, Rena A. Zinchenko, N. E. Petrina, Nika V. Petrova, G. I. El’chinova, Elena L. Dadali, Eugeny K. Ginter, Polina Gundorova, Tatyana A. Vasilyeva, Andrey V. Marakhonov, L. K. Mikhailova, Oksana Y. Alexandrova, Sergey I. Kutsev, V. A. Galkina
Publikováno v:
International Journal of Molecular Sciences
Volume 21
Issue 1
International Journal of Molecular Sciences, Vol 21, Iss 1, p 325 (2020)
Volume 21
Issue 1
International Journal of Molecular Sciences, Vol 21, Iss 1, p 325 (2020)
Prevalence and allelic heterogeneity of hereditary diseases (HDs) could vary significantly in different human populations. Current knowledge of HDs distribution in populations is generally limited to either European data or analyses of isolated popul
Autor:
Alexander V. Polyakov, Nika V. Petrova, Andrey V. Marakhonov, Elena L. Dadali, E. K. Ginter, L. K. Mikhailova, Vladimir V Strelnikov, V. A. Galkina, V. V. Kadyshev, Alexander S Tanas, Rena A. Zinchenko, A. Kh. Makaov, Polina Gundorova, N. E. Petrina, Maria Shurygina, G. I. El’chinonva
Publikováno v:
Russian Journal of Genetics. 54:858-865
The diversity and prevalence of hereditary diseases (HDs) among Nogais of the Karachay-Cherkess Republic (KChR) are described. The size of the surveyed KChR population was 387231 individuals, including 3.81% Nogais (14741 individuals). We revealed 36