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Keywords: polymorphism
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Clin Sci (Lond) (2017) 131 (24): 2847–2863.
Published: 04 December 2017
... expanded our understanding on this complex pulmonary disease. In this review, we critically review functional investigations on roles of genetic polymorphisms in COPD, and discuss future challenges and opportunities in discovering novel mechanisms of functional variants. Correspondence: Xiaobo Zhou...
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Clin Sci (Lond) (2013) 124 (7): 479–489.
Published: 13 December 2012
... oxygen sensor, appears to have a potential role in the functional adaptation to the hypobaric hypoxic environment. In the present study, we screened 30 polymorphisms of EGLN1 , evaluated its gene expression and performed association analyses. In addition, the role of allelic variants in altering TF...
Includes: Supplementary data
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Clin Sci (Lond) (2008) 114 (5): 347–360.
Published: 01 February 2008
... response and influence the formation of adaptive immunity. Cellular and molecular studies over the past several years have identified a number of common TLR polymorphisms that modify the cellular immune response and production of cytokines in vitro . In addition, human genetic studies suggest that some...
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Clin Sci (Lond) (2005) 109 (2): 189–197.
Published: 25 July 2005
...-sectional study of 58 Type II diabetic subjects and 50 controls, we examined the fasting plasma LDL basal conjugated diene concentration [a direct measurement of circulating oxLDL (oxidatively modified LDL)], lipoprotein particle size by NMR spectroscopy, PON-1 polymorphisms (coding region polymorphisms...
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Clin Sci (Lond) (2005) 108 (3): 231–236.
Published: 18 February 2005
...Paul A. MEAD; John N. HARVEY; Peter A. RUTHERFORD; Helen LEITCH; Trevor H. THOMAS A polymorphism of the α-subunit of adducin, Gly 460 →Trp, may affect membrane ion transport and be associated with human EH (essential hypertension). The α-adducin Gly 460 →Trp polymorphism was determined in 242 NC...
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Clin Sci (Lond) (2003) 104 (5): 493–501.
Published: 01 May 2003
...Julian C. KNIGHT The role of host genetic variation in determining susceptibility to complex disease traits is the subject of much research effort, but it often remains unclear whether disease-associated genetic polymorphisms are themselves functionally relevant or acting only as markers within...
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Clin Sci (Lond) (2003) 104 (3): 211–215.
Published: 28 January 2003
...Natalia L. DUARTE; Stephen COLAGIURI; Taniela PALU; Xing L. WANG; David E.L. WILCKEN As there is a high prevalence of obesity in Tonga, we aimed to determine the distribution of the β2 adrenoceptor gene Gln 27 Glu polymorphism and to assess its relevance to obesity and to Type II diabetes, known...
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Clin Sci (Lond) (2000) 98 (3): 251–258.
Published: 10 February 2000
... of whether the gene encoding ANP is involved in the aetiology of essential hypertension or related phenotypes such as salt sensitivity. Most of the studies have used anonymous polymorphic markers of the gene, and made inconclusive claims about the disease relevance of ANP. Therefore, in order to find...
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Clin Sci (Lond) (1998) 95 (6): 745–746.
Published: 01 December 1998
.... myocardial infarction polymorphism transforming growth factor-β1 745Clinical Science (1998) 95, 745 746 (Printed in Great Britain) + C O R R E S P O N D E N C E A common polymorphism of the transforming growth factor-b1 gene and coronary artery disease X. L. WANG, A. S. SIM and D. E. L. WILCKEN...
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Clin Sci (Lond) (1998) 94 (3): 207–218.
Published: 01 March 1998
... telangiectasia immunodeficiency linkage studies polymorphism transforming growth factor-β Clinical Science (1998) 94, 207-218 (Printed in Great Britain) 207 Glaxo/MRS Young Investigator Medal Molecular studies on adenosine deaminase deficiency and hereditary haemorrhagic telangiectasia Claire L. SHOVLIN...
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Clin Sci (Lond) (1997) 92 (1): 25–36.
Published: 01 January 1997
... by muscle cells. These cells failed to activate T-cells but induced tolerance. 3. The DRα chain is unusual being the only non-polymorphic classical class II polypeptide, raising the question of its functional contribution. To this end, several single polypeptide constructs were generated with contributions...