First Case of Late-Onset Glycogen Storage Disease Type II in Russia with a Novel Mutation.

Autor: Nikitin SS; Department of Neuromuscular Disorders, Institute of General Pathology and Pathophysiology, Moscow, Russia., Kovalchuk MO; Department of Neuromuscular Disorders, Institute of General Pathology and Pathophysiology, Moscow, Russia., Proskurina EA; Laboratory of Inherited Metabolic Diseases, Medical Genetic Scientific Center, Moscow, Russia., Khoroshaya IV; Genzyme, a Sanofi company, Moscow, Russia.

Publikováno v: Journal of neuromuscular diseases [J Neuromuscul Dis] 2015; Vol. 2 (s1), pp. S26.

The relationship between polymorphisms in the glutamate cysteine ligase gene and asthma susceptibility.

Autor: Polonikov AV; Department of Medical Biology, Genetics and Ecology, Kursk State Medical University, Karl Marx Street 3, 305041 Kursk, Russia. polonikov@rambler.ru, Ivanov VP, Solodilova MA, Khoroshaya IV, Kozhuhov MA, Panfilov VI

Publikováno v: Respiratory medicine [Respir Med] 2007 Nov; Vol. 101 (11), pp. 2422-4. Date of Electronic Publication: 2007 Jul 23.

Promoter polymorphism G-50T of a human CYP2J2 epoxygenase gene is associated with common susceptibility to asthma.

Autor: Polonikov AV; Kursk State Medical University, Karl Marx St 3, Kursk, Russia 305041. polonikov@rambler.ru, Ivanov VP, Solodilova MA, Khoroshaya IV, Kozhuhov MA, Panfilov VI

Publikováno v: Chest [Chest] 2007 Jul; Vol. 132 (1), pp. 120-6. Date of Electronic Publication: 2007 May 02.

The rs2341471-G/G genotype of activating transcription factor 6 (ATF6) is the risk factor of type 2 diabetes in subjects with obesity or overweight.

Autor: Klyosova E; Laboratory of Biochemical Genetics and Metabolomics, Research Institute for Genetic and Molecular Epidemiology, Kursk State Medical University, 18 Yamskaya Street, 305041, Kursk, Russia.; Department of Biology, Medical Genetics and Ecology, Kursk State Medical University, 3 Karl Marx Street, 305041, Kursk, Russia., Azarova I; Laboratory of Biochemical Genetics and Metabolomics, Research Institute for Genetic and Molecular Epidemiology, Kursk State Medical University, 18 Yamskaya Street, 305041, Kursk, Russia.; Department of Biological Chemistry, Kursk State Medical University, 3 Karl Marx Street, 305041, Kursk, Russia., Petrukhina I; Laboratory of Biochemical Genetics and Metabolomics, Research Institute for Genetic and Molecular Epidemiology, Kursk State Medical University, 18 Yamskaya Street, 305041, Kursk, Russia., Khabibulin R; Laboratory of Statistical Genetics and Bioinformatics, Research Institute for Genetic and Molecular Epidemiology, Kursk State Medical University, 18 Yamskaya Street, 305041, Kursk, Russia., Polonikov A; Department of Biology, Medical Genetics and Ecology, Kursk State Medical University, 3 Karl Marx Street, 305041, Kursk, Russia. polonikov@rambler.ru.; Laboratory of Statistical Genetics and Bioinformatics, Research Institute for Genetic and Molecular Epidemiology, Kursk State Medical University, 18 Yamskaya Street, 305041, Kursk, Russia. polonikov@rambler.ru.

Publikováno v: International journal of obesity (2005) [Int J Obes (Lond)] 2024 Nov; Vol. 48 (11), pp. 1638-1649. Date of Electronic Publication: 2024 Aug 12.

Association of Polymorphisms of Glutamate Cysteine Ligase Genes GCLC C-129 T and GCLM C-588 T with Risk of Polycystic Ovary Syndrome in Chinese Women.

Autor: Yang, Chunyi, Xi, Mingrong, Liu, Hongwei, Bai, Huai, Jiang, Chenyu, Liu, Qingqing, Fan, Ping

Publikováno v: Reproductive Sciences; Jun2022, Vol. 29 Issue 6, p1790-1800, 11p