Search Results - "Busfield, F"

Coronavirus infection in intensively managed cattle with respiratory disease by Hick, PM, Read, AJ, Lugton, I, Busfield, F, Dawood, KE, Gabor, L, Hornitzky, M, Kirkland, PD

“…Background A detailed laboratory investigation identified bovine coronavirus (BCoV) as the aetiological agent in an outbreak of respiratory disease at a…”
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Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3–14 by Warner, J V, Nyholt, D R, Busfield, F, Epstein, M, Burgess, J, Stranks, S, Hill, P, Perry-Keene, D, Learoyd, D, Robinson, B, Teh, B T, Prins, J B, Cardinal, J W

“…Bachground: Familial isolated hyperparathyroidism (FIHP) is an autosomal dominantly inherited form of primary hyperparathyroidism. Although comprising only…”
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The structure of the presenilin 1 ( S182 ) gene and identification of six novel mutations in early onset AD families by Goate, A, Kosik, K, Talbot, C, Axelman, K, Roberts, G.W, Dickson, D, Mehta, N, Harvey, R, Winblad, B, Adams, M.D, Lantos, P, Karran, E, Arcos, M, Wragg, M, Froelich, S, Busfield, F, Morris, J, Martinez, A, Prihar, G, Zehr, C, Poyhonen, M, Viitanen, M, Myers, A, He, C, Behrens, M.I, Mann, D, Neary, D, Venter, J.C, Snowden, J, Korenblat, K, Duff, K, Ashworth, A, Rossor, M, Forsell, L, Cowburn, R, Ossa, J, Haltia, M, Pearson, C, Cline, R.T, Madrigal, L, Clark, R.F, Hutton, M, Johnston, J, Fuldner, M, Kennedy, A, Sarner, S, Lannfelt, L, Hardy, J, Roques, P, Collinge, J, Fox, N, Norton, J, Lilius, L, Lendon, C, Lincoln, S, Philips, C.A, Baker, M, Humphreys, C, Perez-Tur, J, Lopera, F, Crook, R, Houlden, H, Ruiz, A

“…Genetic linkage studies place a gene causing early onset familial Alzheimer's disease (FAD) on chromosome 14q24.3 (refs 1-4). Five mutations within the S182…”
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A Genomewide Search for Type 2 Diabetes–Susceptibility Genes in Indigenous Australians by Busfield, Frances, Duffy, David L., Kesting, Janine B., Walker, Shelley M., Lovelock, Paul K., Good, David, Tate, Heather, Watego, Denise, Marczak, Maureen, Hayman, Noel, Shaw, Joanne T.E.

“…The prevalence of type 2 diabetes among Australian residents is 7.5%; however, prevalence rates up to six times higher have been reported for indigenous…”
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Hereditary dysphasic disinhibition dementia : A frontotemporal dementia linked to 17q21-22 by LENDON, C. L, LYNCH, T, WILHELMSEN, K. C, HANSEN, L, MORRIS, J. C, GOATE, A. M, NORTON, J, MCKEEL, D. W, BUSFIELD, F, CRADDOCK, N, CHAKRAVERTY, S, GOPALAKRISHNAN, G, SHEARS, S. D, GRIMMETT, W

“…The clinical and pathologic features of hereditary dysphasic disinhibition dementia (HDDD) are described to determine whether it is a variant of known…”
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Carotid artery intimal medial thickness, brachial artery flow-mediated vasodilation and cardiovascular risk factors in diabetic and non-diabetic indigenous Australians by Chan, Lionel, Shaw, Andrew G., Busfield, Frances, Haluska, Brian, Barnett, Adrian, Kesting, Janine, Short, Leanne, Marczak, Maureen, Shaw, Joanne T.E.

“…Indigenous Australians are at high risk for cardiovascular disease and type 2 diabetes. Carotid artery intimal medial thickness (CIMT) and brachial artery…”
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Noncoding Variations in the Gene Encoding Ceramide Synthase 6 are Associated with Type 2 Diabetes in a Large Indigenous Australian Pedigree by Good, David A., Duffy, David L., Good, Manuela, Xia Guo, Cheng, Busfield, Frances, Shaw, Anthony, Shaw, Joanne T. E.

“…Type 2 diabetes (T2D) is a chronic disease that disproportionately affects Indigenous Australians. We have previously reported the localization of a novel T2D…”
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The role of presenilin 1 in the genetics of Alzheimer's disease by Clark, R F, Hutton, M, Talbot, C, Wragg, M, Lendon, C, Busfield, F, Han, S W, Perez-Tur, J, Adams, M, Fuldner, R, Roberts, G, Karran, E, Hardy, J, Goate, A

“…Approximately 75% of AD patients have an onset of the disease after the age of 60 years, and 60% of AD patients have no family history of the disease. Some…”
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Haemochromatosis and HLA-H by Jazwinska, Elizabeth C, Cullen, Lara M, Busfield, Frances, Pyper, Wendy R, Webb, Sonja I, Powell, Lawrie W, Morris, C. Philip, Walsh, Terence P

“…The recently identified candidate gene, HLA-H, for haemochromatosis (HH) by Feder et al. generated considerable scientific interest coupled with a degree of…”
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THE STRUCTURE OF THE PRESENILIN-1 (S182) GENE AND IDENTIFICATION OF 6 NOVEL MUTATIONS IN EARLY-ONSET AD FAMILIES by CLARK, RF, HUTTON, M, FULDNER, RA, FROELICH, S, KARRAN, E, TALBOT, C, CROOK, R, LENDON, C, PRIHAR, G, HE, C

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Identification of SQSTM1 mutations in familial Paget's disease in Australian pedigrees by Good, David A, Busfield, Frances, Fletcher, Barbara H, Lovelock, Paul K, Duffy, David L, Kesting, Janine B, Andersen, John, Shaw, Joanne T.E

“…We have conducted a genome-wide scan on a pedigree containing 372 adult members, of whom 49 have PDB. In the present study, we report linkage of a large…”
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Linkage of Paget Disease of Bone to a Novel Region on Human Chromosome 18q23 by Good, David A., Busfield, Frances, Fletcher, Barbara H., Duffy, David L., Kesting, Janine B., Andersen, John, Shaw, Joanne T.E.

“…Paget disease of bone (PDB) is characterized by increased osteoclast activity and localized abnormal bone remodeling. PDB has a significant genetic component,…”
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A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene by Perez-Tur, J, Froelich, S, Prihar, G, Crook, R, Baker, M, Duff, K, Wragg, M, Busfield, F, Lendon, C, Clark, R F

“…A series of mutations has been reported in the presenilin-1 (PS-1) gene which cause early onset Alzheimer's disease (AD). The mutations reported to date have…”
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The C282Y mutation in the haemochromatosis gene (HFE) and hepatitis C virus infection are independent cofactors for porphyria cutanea tarda in Australian patients by Stuart, Katherine A., Busfield, Frances, Jazwinska, Elizabeth C., Gibson, Peter, Butterworth, Lesley A., Cooksley, W.Graham, Powell, Lawrie W., Crawford, Darrell H.G.

“…Background/Aim: Whether mutations in the putative haemochromatosis gene (HFE) and hepatitis C virus act independently to precipitate porphyria cutanea tarda is…”
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Familial Paget's Disease of Bone: Nonlinkage to the PDB1 and PDB2 Loci on Chromosomes 6p and 18q in a Large Pedigree by Good, David, Busfield, Frances, Duffy, David, Lovelock, Paul K., Kesting, Janine B., Cameron, Donald P., Shaw, Joanne T. E.

“…Paget's disease of bone is a common condition characterized by bone pain, deformity, pathological fracture, and an increased incidence of osteosarcoma. Genetic…”
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Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease by Hutton, M, Busfield, F, Wragg, M, Crook, R, Perez-Tur, J, Clark, R F, Prihar, G, Talbot, C, Phillips, H, Wright, K, Baker, M, Lendon, C, Duff, K, Martinez, A, Houlden, H, Nichols, A, Karran, E, Roberts, G, Roques, P, Rossor, M, Venter, J C, Adams, M D, Cline, R T, Phillips, C A, Goate, A

“…The presenilin 1 gene has recently been identified as the locus on chromosome 14 which is responsible for a large proportion of early onset, autosomal…”
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E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles by Lendon, Corinne L., Martinez, Alonso, Behrens, Isabel Maria, Kosik, Kenneth S., Madrigal, Lucia, Norton, Joanne, Neuman, Rosalind, Myers, Amanda, Busfield, Frances, Wragg, Michelle, Arcos, Mauricio, Viana, Juan Carlos Arango, Ossa, Jorge, Ruiz, Andres, Goate, Alison M., Lopera, Francisco

“…A single base substitution of a glutamic acid to an alanine codon 280 was found in the presenilin‐1 (PS‐1) gene on chromosome 14 in affected individuals in…”
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Hereditary dysphasic disinhibition dementia A frontotemporal dementia linked to 17 q21‐‐22 by Lendon, C. L., Lynch, T., Norton, J., McKeel, D. W., Busfield, F., Craddock, N., Chakraverty, S., Gopalakrishnan, G., Shears, S. D., Grimmett, W., Wilhelmsen, K. C., Hansen, L., Morris, J. C., Goate, A. M.

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Generation of a transcription map distal to HLA-F by Goldwurm, S, Van der Griend, B F, Banyer, J L, Cullen, L M, Zournazi, A, Menzies, M L, Busfield, F, Little, P F, Jazwinska, E C

“…We have constructed a transcription map covering a 2 Mb region beginning approximately 1 Mb distal to HLA-F. Cosmids isolated from a chromsome 6 library were…”
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Molecular cloning, expression and nucleotide sequence of the rcsA gene of Erwinia amylovora, encoding a positive regulator of capsule expression: evidence for a family of related capsule activator proteins by Coleman, M, Pearce, R, Hitchin, E, Busfield, F, Mansfield, J.W, Roberts, I.S

“…A gene encoding a positive activator of the expression of extracellular polysaccharide (EPS) synthesis in the phytopathogen Erwinia amylovora has been isolated…”
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