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Genome-wide association study identifies PERLD1 as asthma candidate gene
Springer Science and Business Media LLC - Tập 12 - Trang 1-12 - 2011
Ramani Anantharaman, Anand Kumar Andiappan, Pallavi Parate Nilkanth, Bani Kaur Suri, De Yun Wang, Fook Tim Chew
Recent genome-wide association studies (GWAS) for asthma have been successful in identifying novel associations which have been well replicated. The aim of this study is to identify the genetic variants that influence predisposition towards asthma in an ethnic Chinese population in Singapore using a GWAS approach. A two-stage GWAS was performed in case samples with allergic asthma, and in control ...... hiện toàn bộ
Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility
Springer Science and Business Media LLC - Tập 11 - Trang 1-12 - 2010
Daniela Formicola, Andrea Aloia, Simone Sampaolo, Olimpia Farina, Daria Diodato, Lyn R Griffiths, Fernando Gianfrancesco, Giuseppe Di Iorio, Teresa Esposito
Glutamate is the principal excitatory neurotransmitter in the central nervous system which acts by the activation of either ionotropic (AMPA, NMDA and kainate receptors) or G-protein coupled metabotropic receptors. Glutamate is widely accepted to play a major role in the path physiology of migraine as implicated by data from animal and human studies. Genes involved in synthesis, metabolism and reg...... hiện toàn bộ
A single nucleotide polymorphism in the UMOD promoter is associated with end stage renal disease
Springer Science and Business Media LLC - - 2016
Tingyu Chen, Qianliao Wang, Guisen Li, Li Wang
Validation of genotype imputation in Southeast Asian populations and the effect of single nucleotide polymorphism annotation on imputation outcome
Springer Science and Business Media LLC - Tập 19 - Trang 1-10 - 2018
Worachart Lert-itthiporn, Bhoom Suktitipat, Harald Grove, Anavaj Sakuntabhai, Prida Malasit, Nattaya Tangthawornchaikul, Fumihiko Matsuda, Prapat Suriyaphol
Imputation involves the inference of untyped single nucleotide polymorphisms (SNPs) in genome-wide association studies. The haplotypic reference of choice for imputation in Southeast Asian populations is unclear. Moreover, the influence of SNP annotation on imputation results has not been examined. This study was divided into two parts. In the first part, we applied imputation to genotyped SNPs fr...... hiện toàn bộ
Suggestive evidence of associations between liver X receptor β polymorphisms with type 2 diabetes mellitus and obesity in three cohort studies: HUNT2 (Norway), MONICA (France) and HELENA (Europe)
Springer Science and Business Media LLC - Tập 11 - Trang 1-11 - 2010
Karianne Solaas, Vanessa Legry, Kjetil Retterstol, Paul R Berg, Kirsten B Holven, Jean Ferrières, Philippe Amouyel, Sigbjorn Lien, Javier Romeo, Jara Valtueña, Kurt Widhalm, Jonatan R Ruiz, Jean Dallongeville, Serena Tonstad, Helge Rootwelt, Bente Halvorsen, Marit S Nenseter, Kare I Birkeland, Per M Thorsby, Aline Meirhaeghe, Hilde I Nebb
The liver X receptors (LXR) α and β regulate lipid and carbohydrate homeostasis and inflammation. Lxrβ -/- mice are glucose intolerant and at the same time lean. We aimed to assess the associations between single nucleotide polymorphisms (SNPs) in LXRβ and risk of type 2 diabetes mellitus (T2DM), obesity and related traits in 3 separate cohort studies. Twenty...... hiện toàn bộ
A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report
Springer Science and Business Media LLC - Tập 18 Số 1 - 2017
Wiam Smaili, Siham Chafai Elalaoui, Stephanie Meier, Maria Zerkaoui, Abdelaziz Sefiani, Karl Heinimann
Cơ sở dữ liệu đột biến SDH: một tài nguyên trực tuyến cho các biến thể trình tự succinate dehydrogenase liên quan đến pheochromocytoma, paraganglioma và thiếu hụt phức hợp II ty thể Dịch bởi AI
Springer Science and Business Media LLC - - 2005
Jean‐Pierre Bayley, Peter Devilee, Peter E.M. Taschner
Tóm tắt Nền tảng Các gen SDHA, SDHB, SDHC và SDHD mã hóa các tiểu đơn vị của succinate dehydrogenase (succinate: ubiquinone oxidoreductase), một thành phần của cả chu trình Krebs và chuỗi hô hấp ty thể. SDHA, một flavoprotein và SDHB, một protein sắt-lưu huỳnh cùng nhau tạo thành miền xúc tác, tr...... hiện toàn bộ
A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations
Springer Science and Business Media LLC - - 2015
Grażyna Truszkowska, Zofia T. Bilińska, Joanna Kosińska, Justyna Śleszycka, Małgorzata Rydzanicz, Małgorzata Sobieszczańska−Małek, Maria Franaszczyk, Maria Bilińska, Piotr Stawiński, Ewa Michalak, Łukasz A. Małek, Przemysław Chmielewski, Bogna Foss-Nieradko, Marcin M. Machnicki, Tomasz Stokłosa, Joanna Ponińska, Łukasz Szumowski, Jacek Grzybowski, Jerzy Piwoński, Wojciech Drygas, Tomasz Zieliński, Rafał Płoski
Rapid detection of PAH gene mutations in Chinese people
Springer Science and Business Media LLC - Tập 20 - Trang 1-6 - 2019
Xin Zhang, Huan-Xin Chen, Chuan Li, Gui Zhang, Sheng-Yun Liao, Zhuo-chun Peng, Xiao-Ping Lai, Ling-Li Wang
Phenylketonuria (PKU) is an autosomal recessive genetic disease, caused by the phenylalanine hydroxylase (PAH) deficiency in the metabolic pathway, which prevents phenylalanine from being converted into tyrosine, leading to a large amount of phenylalanine discharged from the urine. Therefore, it is necessary to establish a simple, fast, accurate and reliable PKU molecular diagnostic method for cli...... hiện toàn bộ
An Aγ-globin G->A gene polymorphism associated with β039 thalassemia globin gene and high fetal hemoglobin production
Springer Science and Business Media LLC - Tập 18 Số 1 - 2017
Giulia Breveglieri, Nicoletta Bianchi, Lucia Carmela Cosenza, Maria Rita Gamberini, Francesco Chiavilli, Cristina Zuccato, Giulia Montagner, Monica Borgatti, Ilaria Lampronti, Roberto Gambari
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