Results 71 to 80 of about 3,013,569 (257)

Dependence of Aerobic Performance of Athletes on Polymorphism of Genes

Central European Journal of Sport Sciences and Medicine, 2015
The adaptation of an athlete to systematic physical exercise has been shown to be determined by a combination of great many genes. The aim of our study was to investigate the dependence of the aerobic capacity parameters in sport on the set of gene ...
Victor E. Dosenko, Svitlana B. Drozdovska, Vladimir N. Ilyin, Olena M. Lysenko   +3 more
doaj  

The impact of DRD3, HS1-BP3, and LINGO1 gene mutations on the development and clinical heterogeneity of essential tremor in the Sakha Republic (Yakutia)

Анналы клинической и экспериментальной неврологии, 2020
Introduction. The ETM1, ETM2 and ETM3 loci are linked with the development of essential tremor (ET). It has been established that a mutation in the LINGO1 gene is a significant risk factor for ET development.
Tatyana G. Govorova, Tatyana E. Popova, Alexey A. Tappakhov, Polina I. Golikova, Anastasya L. Danilova, Ulyana D. Antipina, Vera N. Samorseva, Alena Yu. Petrova, Michil E. Andreev, Nadezhda N. Lyasheeva   +9 more
doaj   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Individualization of angiotensin II beta-blocker treatment in patinets with hypertrophic cardiomyopathy

Фактори експериментальної еволюції організмів, 2013
Aims. To assess the influence of gene polymorphism, coding RAAS proteins (I/D gene polymorphism ACE and А1188С gene polymorphism AGTR1) on the effectiveness and safety of ARB therapy (losartan) in patients with HCMP. Methods.
S. M. Komissarova, N. N. Chakova, E. V. Krupnova, E. P. Michalenko, N. V. Chebotaryova, S. S. Niyazova   +5 more
doaj  

Snps Gln27Glu Polymorphism of β2-Adrenoceptor Gene and Carbohydrate and Lipid Metabolism Impairment in Obese Patients with Ischemic Heart Disease

Mìžnarodnij Endokrinologìčnij Žurnal, 2016
This article estimates the role of Gln27Glu polymorphism of β2-adrenergic receptors gene in forming violations of carbohydrate and lipid metabolism in obese patients with ischemic heart disease.
O.I. Kadykova
doaj   +1 more source

High‐Resolution MRI Revealed Different Etiology‐Specific Associations With Cerebral Infarction in Adult Moyamoya Vasculopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han, Jiachun Pan, Yuehui Hong, Xiaoyuan Fan, Ming Yao, Lixin Zhou, Yicheng Zhu, Feng Feng, Jun Ni   +8 more
wiley   +1 more source

Advances in plant gene-targeted and functional markers: a review [PDF]

, 2013
Public genomic databases have provided new directions for molecular marker development and initiated a shift in the types of PCR-based techniques commonly used in plant science.
Ildikó Varga, Poczai, Péter, Neil Bell, Hyvönen Jaakko, Valkonen, Jari PT, Maarja Laos, Hyvönen, Jaakko, Cseh, András, Varga Ildikó, Varga, Ildikó, Laos, Maarja, Cseh András, Bell Neil, Poczai Péter, Valkonen, Jari, Cseh, András Attila, Péter Poczai, Jari PT Valkonen, Valkonen Jari PT, Jaakko Hyvönen, Bell, Neil, András Cseh, Laos Maarja   +22 more
core   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Triglyceride associated polymorphisms of the APOA5 gene have very different allele frequencies in Pune, India compared to Europeans [PDF]

, 2006
Background: the APOA5 gene variants, -1131T>C and S19W, are associated with altered triglyceride concentrations in studies of subjects of Caucasian and East Asian descent. There are few studies of these variants in South Asians.
Weedon, Michael N., Kirsten J Ward, P Mohankrishna, Ward, Kirsten J, Joglekar, Charu V., Bavdekar, Ashish, Pandit, Anand N, Timothy M Frayling, Chittaranjan S Yajnik, Anand N Pandit, Chandak, Giriraj R, Fall, Caroline H.D., Yajnik, Chittaranjan S, Hattersley, Andrew T., Wilkin, Terence J, Hattersley, Andrew T, Yajnik, Chittaranjan S., Joglekar, Charu V, Wilkin, Terence J., Chandak, Giriraj R., Wilkin Terence J, Metcalf Bradley S, Fall, Caroline HD, Ashish Bavdekar, Bradley S Metcalf, Michael N Weedon, Terence J Wilkin, Weedon, Michael N, Metcalf, Bradley S, Joglekar Charu V, Weedon Michael N, Pandit, Anand N., Ward Kirsten J, Mohankrishna, P., Giriraj R Chandak, Caroline HD Fall, Ward, Kirsten J., Chandak Giriraj R, Bavdekar Ashish, Mohankrishna, P, Frayling, Timothy M., Andrew T Hattersley, Metcalf, Bradley S., Charu V Joglekar, Fall Caroline HD, Frayling, Timothy M, Pandit Anand N, Hattersley Andrew T, Mohankrishna P, Frayling Timothy M, Yajnik Chittaranjan S   +50 more
core   +2 more sources

HLA-DQA1 and HLA-DQB1 Gene Polymorphism in Indonesian Children with Type I Diabetes Mellitus [PDF]

, 2022
Background: More than 40 genes influence the progression of type 1 diabetes mellitus (T1DM), including human leukocyte antigen (HLA) alleles. Different HLA genotype patterns result in diverse rates of T1DM development.
Nur Rochmah, -, Soetjipto, -, Yuni Hisbiyah, -, Anang Endaryanto, -, Muhammad Faizi, -   +4 more
core   +1 more source