Search Results - "Buckland, Paul R."

The importance and identification of regulatory polymorphisms and their mechanisms of action by Buckland, Paul R.

“…The search for the genetic variations underlying all human phenotypes is in its infancy but must be one of the long term goals of the scientific community…”
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Will we ever find the genes for addiction? by Buckland, Paul R.

“…ABSTRACT Aim  To assess the likelihood of finding genes which predispose to addiction and to present this information in a form accessible to the general…”
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Identification and Analysis of the Promoter Region of the Human Hyaluronan Synthase 2 Gene by Monslow, Jamie, Williams, John D, Guy, Carol A, Price, Iain K, Craig, Kathrine J, Williams, Hywel J, Williams, Nigel M, Martin, John, Coleman, Sharon L, Topley, Nicholas, Spicer, Andrew P, Buckland, Paul R, Davies, Malcolm, Bowen, Timothy

“…Hyaluronan (HA) is a linear glycosaminoglycan of the vertebrate extracellular matrix that is synthesized at the plasma membrane by the HA synthase (HAS)…”
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Haplotypes at the dystrobrevin binding protein 1 (DTNBP1) gene locus mediate risk for schizophrenia through reduced DTNBP1 expression by Bray, Nicholas J., Preece, Anna, Williams, Nigel M., Moskvina, Valentina, Buckland, Paul R., Owen, Michael J., O'Donovan, Michael C.

“…The DTNBP1 gene, encoding dysbindin, is now generally considered to be a susceptibility gene for schizophrenia. However, the confidence with which this…”
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A Haplotype Implicated in Schizophrenia Susceptibility Is Associated with Reduced COMT Expression in Human Brain by Bray, Nicholas J., Buckland, Paul R., Williams, Nigel M., Williams, Hywel J., Norton, Nadine, Owen, Michael J., O’Donovan, Michael C.

“…The gene encoding catechol-O-methyltransferase ( COMT) is a strong candidate for schizophrenia susceptibility, owing to the role of COMT in dopamine…”
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Allele-specific gene expression differences in humans by BUCKLAND, Paul R

“…In the last decade, the search for the genetic origins of phenotypic variation has expanded beyond the non-synonymous variants which alter the amino acid…”
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Functional analysis of human promoter polymorphisms by Hoogendoorn, Bastiaan, Coleman, Sharon L., Guy, Carol A., Smith, Kaye, Bowen, Tim, Buckland, Paul R., O'Donovan, Michael C.

“…The potential importance of gene regulation in disease susceptibility and other inherited phenotypes has been underlined by the observation that the human…”
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Cis-acting variation in the expression of a high proportion of genes in human brain by BRAY, Nicholas J, BUCKLAND, Paul R, OWEN, Michael J, O'DONOVAN, Michael C

“…Much of the genetic component of human phenotypic diversity, including susceptibility to disease, is proposed to be the result of cis-acting influences on gene…”
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Polymorphically duplicated genes: their relevance to phenotypic variation in humans by Buckland, Paul R

“…A number of disorders are known to be caused by duplication of genes, but these are all rare events. However, there is evidence that polymorphic gene…”
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Low Gene Expression Conferred by Association of an Allele of the 5-HT2C Receptor Gene With Antipsychotic-Induced Weight Gain by Buckland, Paul R., Hoogendoorn, Bastiaan, Guy, Carol A., Smith, S. Kaye, Coleman, Sharon L., O'Donovan, Michael C.

“…OBJECTIVE: Association has been reported between the C allele of a -759C T polymorphism in the promoter of the 5-HT2C receptor gene (HTR2C) and…”
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Gene copy number variation in schizophrenia by Sutrala, Smitha R., Norton, Nadine, Williams, Nigel M., Buckland, Paul R.

“…Recent reports have highlighted the possibility that gene copy number variations play a role in the development of complex disorders and have suggested that…”
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Gene copy number variation in schizophrenia by Sutrala, Smitha R, Goossens, Dirk, Williams, Nigel M, Heyrman, Lien, Adolfsson, Rolf, Norton, Nadine, Buckland, Paul R, Del-Favero, Jurgen

“…Abstract The possibility that gene copy number variations play a role in the development of complex disorders is a topic of considerable interest. Recent…”
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Strong bias in the location of functional promoter polymorphisms by Buckland, Paul R., Hoogendoorn, Bastiaan, Coleman, Sharon L., Guy, Carol A., Smith, S. Kaye, O'Donovan, Michael C.

“…A considerable proportion of heritable human phenotypic variation is thought to result from altered gene expression. Unfortunately, it is currently impossible…”
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A high proportion of polymorphisms in the promoters of brain expressed genes influences transcriptional activity by Buckland, Paul R., Hoogendoorn, Bastiaan, Guy, Carol A., Coleman, Sharon L., Smith, S. Kaye, Buxbaum, Joseph D., Haroutunian, Vahram, O'Donovan, Michael C.

“…There is increasing interest in the possibility that polymorphisms affecting gene expression are responsible for a significant proportion of heritable human…”
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Allelic expression of APOE in human brain: effects of epsilon status and promoter haplotypes by Bray, Nicholas J., Jehu, Luke, Moskvina, Valentina, Buxbaum, Joseph D., Dracheva, Stella, Haroutunian, Vahram, Williams, Julie, Buckland, Paul R., Owen, Michael J., O'Donovan, Michael C.

“…The ε4 haplotype of APOE is the only undisputed genetic risk factor for late-onset Alzheimer's disease (LOAD). It has been proposed that at least two other…”
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Functional analysis of polymorphisms in the promoter regions of genes on 22q11 by Hoogendoorn, Bastiaan, Coleman, Sharon L., Guy, Carol A., Smith, S. Kaye, O'Donovan, Michael C., Buckland, Paul R.

“…Segmental aneusomy, which includes chromosome 22 deletion syndrome (del(22)(q11.2q11.2)), has been associated with DiGeorge syndrome (DGS), velocardiofacial…”
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The human hyaluronan synthase genes: genomic structures, proximal promoters and polymorphic microsatellite markers by Monslow, Jamie, Williams, John D., Norton, Nadine, Guy, Carol A., Price, Iain K., Coleman, Sharon L., Williams, Nigel M., Buckland, Paul R., Spicer, Andrew P., Topley, Nicholas, Davies, Malcolm, Bowen, Timothy

“…The glycosaminoglycan (GAG) hyaluronan (HA) is a key component of the vertebrate extracellular matrix (ECM) and is synthesised by the HA synthase (HAS) enzymes…”
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Endosomal location of dopamine receptors in neuronal cell cytoplasm by Wolstencroft, Elizabeth C, Simic, Goran, thi Man, Nguyen, Holt, Ian, Lam, Le Thanh, Buckland, Paul R, Morris, Glenn E

“…Five subtypes of dopamine receptor exist in two subfamilies: two D(1)-like (D(1) and D(5)) and three D(2)-like (D(2), D(3) and D(4)). We produced novel…”
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Experimental analysis of the annotation of promoters in the public database by Coleman, Sharon L., Buckland, Paul R., Hoogendoorn, Bastiaan, Guy, Carol, Smith, Kaye, O'Donovan, Michael C.

“…The ability to identify and examine promoter elements is important to researchers who wish to understand how gene expression is regulated in normal and…”
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In Silico Discrimination of Single Nucleotide Polymorphisms and Pathological Mutations in Human Gene Promoter Regions by Means of Local DNA Sequence Context and Regularity by Khan, Imtiaz A., Mort, Matthew, Buckland, Paul R., O'Donovan, Michael C., Cooper, David N., Chuzhanova, Nadia A.

“…DNA sequence features were sought that could be used for the in silico ascertainment of the likely functional consequences of single nucleotide changes in…”
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