Search Results - "Guthrie, Philip A. I."

A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts by Guyatt, Anna L, Brennan, Rebecca R, Burrows, Kimberley, Guthrie, Philip A I, Ascione, Raimondo, Ring, Susan M, Gaunt, Tom R, Pyle, Angela, Cordell, Heather J, Lawlor, Debbie A, Chinnery, Patrick F, Hudson, Gavin, Rodriguez, Santiago

“…Mitochondrial DNA copy number (mtDNA CN) exhibits interindividual and intercellular variation, but few genome-wide association studies (GWAS) of directly…”
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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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Nonsense Mutation in Coiled-Coil Domain Containing 151 Gene (CCDC151) Causes Primary Ciliary Dyskinesia by Alsaadi, Muslim M., Erzurumluoglu, A. Mesut, Rodriguez, Santiago, Guthrie, Philip A. I., Gaunt, Tom R., Omar, Hager Z., Mubarak, Mohammad, Alharbi, Khalid K., Al-Rikabi, Ammar C., Day, Ian N. M.

“…ABSTRACT Primary ciliary dyskinesia (PCD) is an autosomal‐recessive disorder characterized by impaired ciliary function that leads to subsequent clinical…”
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IQ, Educational Attainment, Memory and Plasma Lipids: Associations with Apolipoprotein E Genotype in 5995 Children by Taylor, Amy E, Guthrie, Philip A.I, Smith, George Davey, Golding, Jean, Sattar, Naveed, Hingorani, Aroon D, Deanfield, John E, Day, Ian N.M

“…Background Apolipoprotein E ( APOE ) genotype (ε2/ε3/ε4: rs429358 ε4 allele; rs7412 ε2 allele) is strongly associated with both lipid levels and Alzheimer's…”
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From a Single Whole Exome Read to Notions of Clinical Screening: Primary Ciliary Dyskinesia and RSPH9 p.Lys268del in the Arabian Peninsula by AlSaadi, Muslim M., Gaunt, Tom R., Boustred, Christopher R., Guthrie, Philip A. I., Liu, Xuan, Lenzi, Luca, Rainbow, Lucille, Hall, Neil, Alharbi, Khalid K., Day, Ian N. M.

“…Summary Primary ciliary dyskinesia (PCD) is a genetic disorder, usually autosomal recessive, causing early respiratory disease and later subfertility. Whole…”
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Very low PSA concentrations and deletions of the KLK3 gene by Rodriguez, Santiago, Al-Ghamdi, Osama A, Burrows, Kimberley, Guthrie, Philip A I, Lane, J Athene, Davis, Michael, Marsden, Gemma, Alharbi, Khalid K, Cox, Angela, Hamdy, Freddie C, Neal, David E, Donovan, Jenny L, Day, Ian N M

“…Prostate-specific antigen (PSA), a widely used biomarker for prostate cancer (PCa), is encoded by a kallikrein gene (KLK3, kallikrein-related peptidase 3)…”
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Molecular and Population Analysis of Natural Selection on the Human Haptoglobin Duplication by Rodriguez, Santiago, Williams, Dylan M., Guthrie, Philip A.I., McArdle, Wendy L., Smith, George Davey, Evans, David M., Gaunt, Tom R., Day, Ian N.M

“…SUMMARY Haptoglobin binds free haemoglobin that prevents oxidative damage produced by haemolysis. There is a copy number variant (CNV) in the haptoglobin gene…”
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Amplification ratio control system for copy number variation genotyping by Guthrie, Philip A I, Gaunt, Tom R, Abdollahi, Mohammed R, Rodriguez, Santiago, Lawlor, Debbie A, Smith, George Davey, Day, Ian N M

“…We describe a generic design for ratiometric analysis suitable for determination of copy number variation (CNV) class of a gene. Following two initial…”
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expectation-maximization program for determining allelic spectrum from CNV data (CoNVEM): insights into population allelic architecture and its mutational history by Gaunt, Tom R, Rodriguez, Santiago, Guthrie, Philip A.I, Day, Ian N.M

“…Copy number variations (CNVs) are a common form of genetic variation in which the allelic population contains a distribution of copy numbers of a particular…”
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MeltMADGE for mutation scanning of specific genes in population studies by Day, Ian N M, Alharbi, Khalid K, Aldahmesh, Mohammed A, Gaunt, Tom R, Rassoulian, Hamid, AI Guthrie, Philip, Rodriguez, Santiago, Boustred, Christopher R, Spanakis, Emmanuel

“…MeltMADGE reconfigures the mutation scanning process of denaturing gradient gel electrophoresis so that the independent variable is time rather than space and…”
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Cardiometabolic phenotypes and mitochondrial DNA copy number in two cohorts of UK women by Guyatt, Anna L, Burrows, Kimberley, Guthrie, Philip A I, Ring, Sue, McArdle, Wendy, Day, Ian N M, Ascione, Raimondo, Lawlor, Debbie A, Gaunt, Tom R, Rodriguez, Santiago

“…The mitochondrial genome is present at variable copy number between individuals. Mitochondria are vulnerable to oxidative stress, and their dysfunction may be…”
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Integrated Single-Label Liquid-Phase Assay of APOE Codons 112 and 158 and a Lipoprotein Study in British Women by Abdollahi, Mohammad Reza, Guthrie, Philip A.I, Smith, George Davey, Lawlor, Debbie A, Ebrahim, Shah, Day, Ian N.M

“…Apolipoprotein E (APOE) is an important element of lipid metabolism and, hence, cardiovascular disorders. APOE has 3 main allelic variants: epsilon3, epsilon4,…”
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Complexity of a complex trait locus: HP, HPR, haemoglobin and cholesterol by Guthrie, Philip A.I., Rodriguez, Santiago, Gaunt, Tom R., Lawlor, Debbie A., Smith, George Davey, Day, Ian N.M.

“…HP and HPR are related and contiguous genes in strong linkage disequilibrium (LD), encoding haptoglobin and haptoglobin-related protein. These bind and…”
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Frequency of KLK3 gene deletions in the general population by Rodriguez, Santiago, Al-Ghamdi, Osama A, Guthrie, Philip Ai, Shihab, Hashem A, McArdle, Wendy, Gaunt, Tom, Alharbi, Khalid K, Day, Ian Nm

“…Background One of the kallikrein genes ( KLK3) encodes prostate-specific antigen, a key biomarker for prostate cancer. A number of factors, both genetic and…”
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Haptoglobin Duplicon, Hemoglobin, and Vitamin C: Analyses in the British Women’s Heart and Health Study and Caerphilly Prospective Study by Rodriguez, Santiago, Day, Ian N. M., Gallacher, John, Ben-Shlomo, Y., Lawlor, Debbie A., Gaunt, Tom, Abdollahi, Mohammad R., Guthrie, Philip A. I., Davey Smith, G.

“…Background. Haptoglobin acts as an antioxidant by limiting peroxidative tissue damage by free hemoglobin. The haptoglobin gene allele Hp2 comprises a 1.7 kb…”
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Proxy Molecular Diagnosis from Whole-Exome Sequencing Reveals Papillon-Lefevre Syndrome Caused by a Missense Mutation in CTSC: e0121351 by Erzurumluoglu, A Mesut, Alsaadi, Muslim M, Rodriguez, Santiago, Alotaibi, Tahani S, Guthrie, Philip AI, Lewis, Sian, Ginwalla, Aasiya, Gaunt, Tom R, Alharbi, Khalid K, Alsaif, Fahad M

“…Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder characterised by severe early onset periodontitis and palmoplantar hyperkeratosis. A…”
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