Search Results - "MUNROE, P. B"

First genome-wide association study investigating blood pressure and renal traits in domestic cats by Jepson, R. E., Warren, H., Wallace, M. D., Syme, H. M., Elliott, J., Munroe, P. B.

“…Hypertension (HTN) and chronic kidney disease (CKD) are common in ageing cats. In humans, blood pressure (BP) and renal function are complex heritable traits…”
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Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome by Maldergem, Lionel Van, Munroe, Patricia B, Ziereisen, France, Olgunturk, Rana O, Chung, Eddie, Fryns, Jean-Pierre, Yuksel, Bulend, Gardiner, R. Mark

“…Keutel syndrome (KS, MIM 245150) is an autosomal recessive disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis and…”
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Genes and hypertension by Garcia, E A, Newhouse, S, Caulfield, M J, Munroe, P B

“…The combination of investigation of rare Mendelian forms of hypertension, candidate gene studies, comparative mapping and genome-wide screening in both animal…”
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Spectrum of Mutations in the Batten Disease Gene, CLN3 by Munroe, Patricia B., Mitchison, Hannah M., O'Rawe, Angela M., Anderson, John W., Boustany, Rose-Mary, Lerner, Terry J., Taschner, Peter E.M., Vos, Nanneke de, Breuning, Martijn H., Gardiner, R. Mark, Mole, Sara E.

“…Batten disease (juvenile-onset neuronal ceroid lipofuscinosis [JNCL]) is an autosomal recessive condition characterized by accumulation of lipopigments…”
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Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis by LAURONEN, L, MUNROE, P. B, KIRVESKARI, E, SANTAVUORI, P, JÄRVELÄ, I, AUTTI, T, MITCHISON, H. M, O'RAWE, A. M, GARDINER, R. M, MOLE, S. E, PURANEN, J, HÄKKINEN, A.-M

“…To correlate the phenotypes with the genotypes of 10 Finnish juvenile neuronal ceroid lipofuscinosis (JNCL; late-onset Batten disease) patients who all are…”
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Human Chromosome 17 in Essential Hypertension by Knight, J., Munroe, P. B., Pembroke, J. C., Caulfield, M. J.

“…Summary Hypertension affects up to 30% of the adult population in Western societies and is a major risk factor for kidney disease, stroke and coronary heart…”
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Differences between disease‐associated endoplasmic reticulum aminopeptidase 1 (ERAP1) isoforms in cellular expression, interactions with tumour necrosis factor receptor 1 (TNF‐R1) and regulation by cytokines by Yousaf, N., Low, W. Y., Onipinla, A., Mein, C., Caulfield, M., Munroe, P. B., Chernajovsky, Y.

“…Summary Endoplasmic reticulum aminopeptidase 1 (ERAP1) processes peptides for major histocompatibility complex (MHC) class I presentation and promotes cytokine…”
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Uromodulin gene variants and their association with renal function and blood pressure in cats: a pilot study by Jepson, R. E., Warren, H. R., Syme, H. M., Elliott, J., Munroe, P. B.

“…Objectives In humans, genome‐wide association studies have identified variants in the uromodulin gene (UMOD) associated with blood pressure and renal function…”
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Uncoupling Between Heart Rate Variability and Heart Rate During Exercise and Recovery as a Predictor of Cardiovascular Events by Orini, Michele, van Duijvenboden, S, Ramirez, J, Tinker, A, Munroe, PB, Lambiase, PD

“…Heart rate (HR) variability (HRV) is a non-invasive cardiac autonomic marker, which, in normal conditions, is inversely associated with the underlying HR. This…”
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Association Between Photoplethysmography Pulse Upslope and Cardiovascular Events in over 170,000 UK Biobank Participants by Orini, Michele, van Duijvenboden, S, Tinker, A, Munroe, PB, Lambiase, PD

“…Photoplethysmography (PPG) is used in many wearable devices and it is becoming the most commonly measured cardiovascular signal, but its association with…”
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Mutations in the Palmitoyl-Protein Thioesterase Gene (PPT; CLN1) Causing Juvenile Neuronal Ceroid Lipofuscinosis with Granular Osmiophilic Deposits by Mitchison, Hannah M., Hofmann, Sandra L., Becerra, Carlos H. R., Munroe, Patricia B., Lake, Brian D., Crow, Yanick J., Stephenson, John B. P., Williams, Ruth E., Hofman, Irene L., Taschner, Peter E. M., Martin, Jean-Jacques, Philippart, Michel, Andermann, Eva, Andermann, Frederick, Mole, Sara E., Gardiner, R. Mark, O'Rawe, Angela M.

“…A subtype of neuronal ceroid lipofuscinosis (NCL) is well recognized which has a clinical course consistent with juvenile NCL (JNCL) but the ultrastructural…”
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High quality genomic DNA extraction from postmortem fetal tissue by Addison, S., Sebire, N. J., Taylor, A. M., Abrams, D., Peebles, D., Mein, C., Munroe, P. B., Thayyil, S.

“…Objective: We examined the yield and quality of genomic deoxyribonucleic acid (DNA) extracted from various postmortem fetal tissues. Methods: Fetal tissues…”
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Rapid diagnostic test for the major mutation underlying Batten disease by Järvelä, I, Mitchison, H M, Munroe, P B, O'Rawe, A M, Mole, S E, Syvänen, A C

“…Batten disease is the most common progressive neurodegenerative disorder of childhood in western countries. A novel cDNA responsible for Batten disease has…”
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Prenatal diagnosis of Batten's disease by Munroe, P B, Rapola, J, Mitchison, H M, Mustonen, A, Mole, S E, Gardiner, R M, Jarvela, I

“…Batten's disease is the most common progressive encephalopathy of childhood in Western countries. The major mutation is a 1kb deletion, which is carried by 81%…”
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Genomic Structure and Complete Nucleotide Sequence of the Batten Disease Gene,CLN3 by Mitchison, Hannah M., Munroe, Patricia B., O'Rawe, Angela M., Taschner, Peter E.M., de Vos, Nanneke, Kremmidiotis, Gabriel, Lensink, Ingrid, Munk, A.Christine, D'Arigo, Kenneth L, Anderson, John W., Lerner, Terry J., Moyzis, Robert K., Callen, David F., Breuning, Martijn H., Doggett, Norman A., Gardiner, R.Mark, Mole, Sara E.

“…We recently cloned a cDNA forCLN3,the gene for juvenile-onset neuronal ceroid lipofuscinosis or Batten disease. To resolve the genomic organization we used a…”
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Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland by Munroe, P B, Greene, N D, Leung, K Y, Mole, S E, Gardiner, R M, Mitchison, H M, Stephenson, J B, Crow, Y J

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Absence of linkage of the epithelial sodium channel to hypertension in black Caribbeans by Munroe, Patricia B, Strautnieks, Sandra S, Farrall, Martin, Daniel, Harold I, Lawson, Mary, DeFreitas, Perry, Fogarty, Paul, Gardiner, R.Mark, Caulfield, Mark

“…Hypertensives of African origin have low-renin, sodium-sensitive blood pressure and respond poorly to treatment with angiotensin converting enzyme inhibitors…”
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The atrial natriuretic peptide gene and essential hypertension in African-Caribbeans from St Vincent and the Grenadines by DANIEL, H. I, MUNROE, P. B, KAMDAR, S. M, LAWSON, M, LAVENDER, P, FORGATY, P, CAULFIELD, M. J

“…Atrial natriuretic peptide (ANP) which alters sodium balance, blood volume and vascular tone represents an important candidate for investigating the genetic…”
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Identification of a Transactivation Motif in the CLN3 Protein by Leung, K. Y., Greene, N. D. E., Munroe, P. B., Mole, S. E.

“…A transactivation motif has been identified in the neurodegenerative disease protein, CLN3. The C‐terminal domain (residues 394‐438) of CLN3 can function as a…”
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The association between periodontal disease and coronary artery disease: insights from imaging, observational and genome-wide data by Sanghvi, M M, Chadalavada, S, Aung, N, Munroe, P B, Donos, N, Petersen, S E

“…Abstract Background Periodontal disease is the sixth most common disease worldwide. It has been suggested that it may be a contributory risk factor for…”
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