Genome-wide association study identifies PERLD1 as asthma candidate geneSpringer 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
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 study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutationsSpringer 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 peopleSpringer 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
Association analysis of chromosome 1 migraine candidate genesSpringer Science and Business Media LLC - Tập 8 - Trang 1-8 - 2007
Francesca Fernandez, Robert P Curtain, Natalie J Colson, Micky Ovcaric, John MacMillan, Lyn R Griffiths
Migraine with aura (MA) is a subtype of typical migraine. Migraine with aura (MA) also encompasses a rare severe subtype Familial Hemiplegic Migraine (FHM) with several known genetic loci. The type 2 FHM (FHM-2) susceptibility locus maps to chromosome 1q23 and mutations in the ATP1A2 gene at this site have recently been implicated. We have previously provided evidence of linkage of typical migrain...... hiện toàn bộ
The association of 9p21-3 locus with coronary atherosclerosis: a systematic review and meta-analysisSpringer Science and Business Media LLC - Tập 15 - Trang 1-10 - 2014
Muhammad S Munir, Zhen Wang, Fares Alahdab, Mark W Steffen, Patricia J Erwin, Iftikhar J Kullo, Mohammad Hassan Murad
Studies suggest that the 9p21-3 locus may influence susceptibility to myocardial infarction. We performed a systematic review and meta-analysis to assess whether this locus is associated with severity of coronary atherosclerosis and adverse clinical outcomes in those with known coronary disease. Multiple electronic databases were searched from inception through August 2012. Studies examining 9p21-...... hiện toàn bộ