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Keywords: polymorphism
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Articles
Journal:
Clinical Science
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...
Articles
Journal:
Clinical Science
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
Articles
Valérie Turcot, Luigi Bouchard, Geneviève Faucher, Véronique Garneau, André Tchernof, Yves Deshaies, Louis Pérusse, Simon Marceau, Simon Biron, Odette Lescelleur, Laurent Biertho, Marie-Claude Vohl
Journal:
Clinical Science
Clin Sci (Lond) (2012) 123 (2): 99–109.
Published: 27 March 2012
... stromal lymphopoietin) gene was less expressed in severely obese men with ( n =7) compared with without ( n =7) the MetS (metabolic syndrome). We hypothesized that TSLP SNPs (single nucleotide polymorphisms) are associated with TSLP gene expression in VAT and with MetS phenotypes. Following validation...
Includes: Supplementary data
Articles
Bernd Krüger, Miriam C. Banas, Andreas Walberer, Carsten A. Böger, Stefan Farkas, Ute Hoffmann, Michael Fischereder, Bernhard Banas, Bernhard K. Krämer
Journal:
Clinical Science
Clin Sci (Lond) (2010) 119 (12): 535–544.
Published: 06 September 2010
... allograft outcomes. We studied 11 SNPs (single nucleotide polymorphisms) in TLR2 , TLR3 , TLR4 , TLR5 , TLR9 and within a co-molecule CD14 in 265 patients receiving their first kidney transplant and the association of these with the occurrence of DGF (delayed graft function), ARE or MACE (major adverse...
Articles
Journal:
Clinical Science
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...
Articles
Linda S. Pescatello, Bruce E. Blanchard, Gregory J. Tsongalis, Carl M. Maresh, Ann O'Connell, Paul D. Thompson
Journal:
Clinical Science
Clin Sci (Lond) (2007) 113 (5): 251–258.
Published: 01 August 2007
...Linda S. Pescatello; Bruce E. Blanchard; Gregory J. Tsongalis; Carl M. Maresh; Ann O'Connell; Paul D. Thompson The α-adducin Gly460Trp polymorphism alters renal sodium transport and is associated with hypertension. Despite the immediate sodium- and volume-depleting effects of aerobic exercise...
Articles
Klaus Stark, Katharina Neureuther, Kamil Sedlacek, Wibke Hengstenberg, Marcus Fischer, Andrea Baessler, Silke Wiedmann, Andreas Jeron, Stephan Holmer, Jeanette Erdmann, Heribert Schunkert, Christian Hengstenberg
Journal:
Clinical Science
Clin Sci (Lond) (2007) 113 (4): 213–218.
Published: 13 July 2007
... and variants responsible for prevalence to MI in the general population are known [ 9 , 13 ]. association study cardiovascular disease complement factor H gene ( CFH ) genetics myocardial infarction polymorphism risk factor In the pathophysiology of atherosclerosis, inflammation...
Articles
Kenji Miwa, Akihiro Inazu, Junji Kobayashi, Toshinori Higashikata, Atsushi Nohara, Masaaki Kawashiri, Shoji Katsuda, Mutsuko Takata, Junji Koizumi, Hiroshi Mabuchi
Journal:
Clinical Science
Clin Sci (Lond) (2005) 109 (2): 183–188.
Published: 25 July 2005
... that genetic variation in ABCG5 / ABCG8 influences the levels of serum plant sterol (sitosterol) and cholesterol precursor (lathosterol) in Japanese primary hypercholesterolaemic patients ( n =100). We identified a novel mutation [859T/C (C287R)] and a novel polymorphism [1285A/G (M429V)] at the ABCG5 / ABCG8...
Articles
Journal:
Clinical Science
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...
Articles
Journal:
Clinical Science
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...
Articles
Ting-Hsing CHAO, Yi-Heng LI, Jyh-Hong CHEN, Hua-Lin WU, Guey-Yueh SHI, Ping-Yen LIU, Wei-Chuan TSAI, How-Ran GUO
Journal:
Clinical Science
Clin Sci (Lond) (2004) 107 (5): 461–466.
Published: 26 October 2004
...-atherogenic and fibrinolytic effects. However, the association between the 161T allele in exon 6 of the PPARγ gene and premature AMI (acute myocardial infarction) is not clear. We recruited 146 patients with premature AMI (onset age ≤50 years) and 146 controls. The C161T polymorphism was examined using PCR...
Articles
Marcus FISCHER, Wolfgang LIEB, Daniel MAROLD, Matthias BERTHOLD, Andrea BAESSLER, Hannelore LOWEL, Hans-Werner HENSE, Christian HENGSTENBERG, Stephan HOLMER, Heribert SCHUNKERT, Jeanette ERDMANN
Journal:
Clinical Science
Clin Sci (Lond) (2004) 107 (5): 505–511.
Published: 26 October 2004
... in the promoter of the receptor gene represents an allelic variant that is associated with enhanced mRNA expression levels. We tested whether this polymorphism is associated with the prevalence of MI (myocardial infarction) or with echocardiographically determined left ventricular function in post-MI patients...
Articles
Flavio RIBICHINI, Valeria FERRERO, Giuseppe MATULLO, Mauro FEOLA, Antonello VADO, Terenzio CAMILLA, Simonetta GUARRERA, Sonia CARTURAN, Corrado VASSANELLI, Eugenio USLENGHI, Alberto PIAZZA
Journal:
Clinical Science
Clin Sci (Lond) (2004) 107 (4): 381–389.
Published: 24 September 2004
...Flavio RIBICHINI; Valeria FERRERO; Giuseppe MATULLO; Mauro FEOLA; Antonello VADO; Terenzio CAMILLA; Simonetta GUARRERA; Sonia CARTURAN; Corrado VASSANELLI; Eugenio USLENGHI; Alberto PIAZZA The ID (insertion/deletion) polymorphism of the ACE (angiotensin-converting enzyme) gene controls plasma ACE...
Articles
Xiaoyang ZHOU, Jianfeng HUANG, Jianhong CHEN, Jiangong ZHAO, Wenjie YANG, Xiaoling WANG, Dongfeng GU
Journal:
Clinical Science
Clin Sci (Lond) (2004) 106 (5): 495–500.
Published: 01 May 2004
...Xiaoyang ZHOU; Jianfeng HUANG; Jianhong CHEN; Jiangong ZHAO; Wenjie YANG; Xiaoling WANG; Dongfeng GU Recently, conflicting data have been reported regarding the possible contribution of the TSP-4 (thrombospondin-4) A387P polymorphism to CAD (coronary artery disease) or MI (myocardial infarction...
Articles
M. S. SPENCE, P. G. McGLINCHEY, C. C. PATTERSON, A. R. ALLEN, G. MURPHY, U. BAYRAKTUTAN, D. G. FOGARTY, A. E. EVANS, P. P. McKEOWN
Journal:
Clinical Science
Clin Sci (Lond) (2003) 105 (6): 677–682.
Published: 01 December 2003
... leading to endothelial dysfunction is believed to be important in the pathogenesis of ischaemic heart disease. The NAD(P)H oxidase system generates superoxide anions in vascular cells; however, the role of the C242T polymorphism of the NAD(P)H oxidase p22 phox gene in ischaemic heart disease is unclear...
Articles
Amir SNAPIR, Juha KOSKENVUO, Jyri TOIKKA, Marju ORHO-MELANDER, Susanna HINKKA, Markku SARASTE, Jaakko HARTIALA, Mika SCHEININ
Journal:
Clinical Science
Clin Sci (Lond) (2003) 104 (5): 509–520.
Published: 01 May 2003
...Amir SNAPIR; Juha KOSKENVUO; Jyri TOIKKA; Marju ORHO-MELANDER; Susanna HINKKA; Markku SARASTE; Jaakko HARTIALA; Mika SCHEININ Common naturally occurring polymorphisms have been identified in the coding regions of the α 1A -, α 2B -, β 1 - and β 2 -adrenoceptor (AR) genes [α 1A -AR R492C, α 2B -AR...
Articles
Journal:
Clinical Science
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...
Articles
Journal:
Clinical Science
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...
Articles
K. TENBROCK, A. SCHUBERT, L. STAPENHORST, M.J. KEMPER, J. GELLERMANN, K. TIMMERMANN, D.E. MÜLLER-WIEFEL, U. QUERFELD, B. HOPPE, D. MICHALK
Journal:
Clinical Science
Clin Sci (Lond) (2002) 102 (5): 507–512.
Published: 18 April 2002
...K. TENBROCK; A. SCHUBERT; L. STAPENHORST; M.J. KEMPER; J. GELLERMANN; K. TIMMERMANN; D.E. MÜLLER-WIEFEL; U. QUERFELD; B. HOPPE; D. MICHALK Polymorphisms in the genes encoding the high-affinity IgE receptor, the interleukin 4 (IL4) receptor and IL13 can be associated with the development of asthma...
Articles
Journal:
Clinical Science
Clin Sci (Lond) (2000) 99 (3): 233–238.
Published: 16 August 2000
...Kevin M. O'SHAUGHNESSY; Beiyuan FU; Claire DICKERSON; Denise THURSTON; Morris J. BROWN Mutation scanning of the β 1 -adrenoceptor gene has identified a polymorphism, G389R, that markedly affects G-protein coupling of the receptor and resulting cAMP production. We have investigated the effect...
Articles
Norihiro KATO, Takao SUGIYAMA, Hiroyuki MORITA, Toru NABIKA, Hiroki KURIHARA, Yukio YAMORI, Yoshio YAZAKI
Journal:
Clinical Science
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...
Articles
Journal:
Clinical Science
Clin Sci (Lond) (1999) 96 (3): 253–259.
Published: 01 March 1999
...B. J. LIPWORTH; I. P. HALL; I. AZIZ; K. S. TAN; A. WHEATLEY The aim of the present study was to investigate bronchoprotective sensitivity in patients receiving regular treatment with short- and long-acting β 2 -agonists and to evaluate any possible association with genetic polymorphism. Thirty...
Articles
Journal:
Clinical Science
Clin Sci (Lond) (1998) 95 (6): 745–746.
Published: 01 December 1998
... 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...
Articles
Journal:
Clinical Science
Clin Sci (Lond) (1998) 94 (3): 207–218.
Published: 01 March 1998
... adenosine deaminase, arteriovenous malformations, endoglin, hereditary haemohagic telangiectasia, immunodeficiency, linkage studies, polymorphism, transforming growth factor Abbrevirtions: ADA adenosine deaminase; HHT. hereditary haemorrhagic telangiectasir lod, logarithm of the odds d o ; PAVMs, pulmonary...
Articles
Journal:
Clinical Science
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...