Search Results - "DAY, Ian N. M"

Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models by Shihab, Hashem A., Gough, Julian, Cooper, David N., Stenson, Peter D., Barker, Gary L. A., Edwards, Keith J., Day, Ian N. M., Gaunt, Tom R.

“…ABSTRACT The rate at which nonsynonymous single nucleotide polymorphisms (nsSNPs) are being identified in the human genome is increasing dramatically owing to…”
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Hardy-Weinberg Equilibrium Testing of Biological Ascertainment for Mendelian Randomization Studies by Rodriguez, Santiago, Gaunt, Tom R., Day, Ian N. M.

“…Mendelian randomization (MR) permits causal inference between exposures and a disease. It can be compared with randomized controlled trials. Whereas in a…”
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An integrative approach to predicting the functional effects of non-coding and coding sequence variation by Shihab, Hashem A, Rogers, Mark F, Gough, Julian, Mort, Matthew, Cooper, David N, Day, Ian N M, Gaunt, Tom R, Campbell, Colin

“…Technological advances have enabled the identification of an increasingly large spectrum of single nucleotide variants within the human genome, many of which…”
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Possible Association of APOE Genotype with Working Memory in Young Adults by Sinclair, Lindsey I, Button, Katherine S, Munafò, Marcus R, Day, Ian N M, Lewis, Glyn

“…Possession of the ε4 allele of the Apolipoprotein E (APOE) gene is associated with an increased risk of Alzheimer's disease. Early adult life effects of ε4 are…”
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Genetic Variants in the Vitamin D Receptor Are Associated with Advanced Prostate Cancer at Diagnosis: Findings from the Prostate Testing for Cancer and Treatment Study and a Systematic Review by LINA CHEN, SMITH, George Davey, RODRIGUEZ, Santi, DAVIS, Michael, ZUCCOLO, Luisa, COLLIN, Simon M, HAMDY, Freddie, NEAL, David, LEWIS, Sarah J, EVANS, David M, COX, Angela, LAWLOR, Debbie A, DONOVAN, Jenny, WEI YUAN, DAY, Ian N. M, MARTIN, Richard M, LANE, Athene

“…Low levels of plasma vitamin D have been implicated as a possible risk factor for both prostate cancer incidence and advanced disease, and recent phase II…”
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Predicting the functional consequences of cancer-associated amino acid substitutions by Shihab, Hashem A, Gough, Julian, Cooper, David N, Day, Ian N M, Gaunt, Tom R

“…The number of missense mutations being identified in cancer genomes has greatly increased as a consequence of technological advances and the reduced cost of…”
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The association of C-reactive protein and CRP genotype with coronary heart disease: findings from five studies with 4,610 cases amongst 18,637 participants by Lawlor, Debbie A, Harbord, Roger M, Timpson, Nic J, Lowe, Gordon D O, Rumley, Ann, Gaunt, Tom R, Baker, Ian, Yarnell, John W G, Kivimäki, Mika, Kumari, Meena, Norman, Paul E, Jamrozik, Konrad, Hankey, Graeme J, Almeida, Osvaldo P, Flicker, Leon, Warrington, Nicole, Marmot, Michael G, Ben-Shlomo, Yoav, Palmer, Lyle J, Day, Ian N M, Ebrahim, Shah, Smith, George Davey

“…It is unclear whether C-reactive protein (CRP) is causally related to coronary heart disease (CHD). Genetic variants that are known to be associated with CRP…”
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Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC by Erzurumluoglu, A Mesut, Alsaadi, Muslim M, Rodriguez, Santiago, Alotaibi, Tahani S, Guthrie, Philip A I, Lewis, Sian, Ginwalla, Aasiya, Gaunt, Tom R, Alharbi, Khalid K, Alsaif, Fahad M, Alsaadi, Basma M, Day, Ian N M

“…Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder characterised by severe early onset periodontitis and palmoplantar hyperkeratosis. A…”
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Structural and population-based evaluations of TBC1D1 p.Arg125Trp by Richardson, Tom G, Thomas, Elaine C, Sessions, Richard B, Lawlor, Debbie A, Tavaré, Jeremy M, Day, Ian N M

“…Obesity is now a leading cause of preventable death in the industrialised world. Understanding its genetic influences can enhance insight into molecular…”
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UCHL1 (PGP 9.5): neuronal biomarker and ubiquitin system protein by Day, Ian N M, Thompson, Rod J

“…UCHL1/PGP 9.5 (also known as UCHL1 and PGP 9.5) was first detected as a "brain-specific protein" over 28 years ago. The protein is highly conserved and…”
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Associations between a polymorphism in the pleiotropic GCKR and Age-related phenotypes: the HALCyon programme by Alfred, Tamuno, Ben-Shlomo, Yoav, Cooper, Rachel, Hardy, Rebecca, Deary, Ian J, Elliott, Jane, Harris, Sarah E, Kivimaki, Mika, Kumari, Meena, Power, Chris, Starr, John M, Kuh, Diana, Day, Ian N M

“…The glucokinase regulatory protein encoded by GCKR plays an important role in glucose metabolism and a single nucleotide polymorphism (SNP) rs1260326 (P446L)…”
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MIDAS: software for analysis and visualisation of interallelic disequilibrium between multiallelic markers by Gaunt, Tom R, Rodriguez, Santiago, Zapata, Carlos, Day, Ian N M

“…Various software tools are available for the display of pairwise linkage disequilibrium across multiple single nucleotide polymorphisms. The HapMap project…”
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A pathway-based data integration framework for prediction of disease progression by Seoane, José A, Day, Ian N M, Gaunt, Tom R, Campbell, Colin

“…Within medical research there is an increasing trend toward deriving multiple types of data from the same individual. The most effective prognostic prediction…”
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Genome-wide data-mining of candidate human splice translational efficiency polymorphisms (STEPs) and an online database by Raistrick, Christopher A, Day, Ian N M, Gaunt, Tom R

“…Variation in pre-mRNA splicing is common and in some cases caused by genetic variants in intronic splicing motifs. Recent studies into the insulin gene (INS)…”
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A multi-cohort study of polymorphisms in the GH/IGF axis and physical capability: the HALCyon programme by Alfred, Tamuno, Ben-Shlomo, Yoav, Cooper, Rachel, Hardy, Rebecca, Cooper, Cyrus, Deary, Ian J, Gaunt, Tom R, Gunnell, David, Harris, Sarah E, Kumari, Meena, Martin, Richard M, Sayer, Avan Aihie, Starr, John M, Kuh, Diana, Day, Ian N M

“…Low muscle mass and function have been associated with poorer indicators of physical capability in older people, which are in-turn associated with increased…”
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Genetic markers of bone and joint health and physical capability in older adults: the HALCyon programme by Alfred, Tamuno, Ben-Shlomo, Yoav, Cooper, Rachel, Hardy, Rebecca, Cooper, Cyrus, Deary, Ian J, Gunnell, David, Harris, Sarah E, Kumari, Meena, Martin, Richard M, Sayer, Avan Aihie, Starr, John M, Kuh, Diana, Day, Ian N.M

“…Abstract Background Good bone and joint health is essential for the physical tasks of daily living and poorer indicators of physical capability in older adults…”
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Sequential Sentinel SNP Regional Association Plots (SSS‐RAP): An Approach for Testing Independence of SNP Association Signals Using Meta‐Analysis Data by Zheng, Jie, Gaunt, Tom R., Day, Ian N. M.

“…Summary Genome‐Wide Association Studies (GWAS) frequently incorporate meta‐analysis within their framework. However, conditional analysis of individual‐level…”
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Use of Genotype Frequencies in Medicated Groups to Investigate Prescribing Practice: APOE and Statins as a Proof of Principle by DAVIES, Neil M, WINDMEIJER, Frank, MARTIN, Richard M, ABDOLLAHI, Mohammad R, DAVEY SMITH, George, LAWLOR, Debbie A, EBRAHIM, Shah, DAY, Ian N. M

“…If treatments are used to modify a trait, then patients with high-risk genotypes for the trait should be found at higher frequency in treatment groups than in…”
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Canonical correlation analysis for gene-based pleiotropy discovery by Seoane, Jose A, Campbell, Colin, Day, Ian N M, Casas, Juan P, Gaunt, Tom R

“…Genome-wide association studies have identified a wealth of genetic variants involved in complex traits and multifactorial diseases. There is now considerable…”
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Importance of Genetic Studies in Consanguineous Populations for the Characterization of Novel Human Gene Functions by Erzurumluoglu, A. Mesut, Shihab, Hashem A., Rodriguez, Santiago, Gaunt, Tom R., Day, Ian N.M.

“…Summary Consanguineous offspring have elevated levels of homozygosity. Autozygous stretches within their genome are likely to harbour loss of function (LoF)…”
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