Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Michelle Jennens"'
Autor:
Reza Ghassemifar, Paula Holmes, Laura Greenwood, Christopher Newbound, Nicole Pell, Dianne Grey, Jill Finlayson, John Beilby, Michelle Jennens
Publikováno v:
Hemoglobin. 36:511-515
We describe two frameshift mutations associated with an α-thalassemia (α-thal) phenotype, identified in three unrelated individuals investigated for persistent microcytosis. The first mutation, HBA2:c.131delT, is located in codon 43, and the second
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::764fef6fdb19c9c8900e0643cfa866b2
https://doi.org/10.3109/03630269.2012.717053
https://doi.org/10.3109/03630269.2012.717053
Autor:
Laura Greenwood, Claire Macaulay, Paula Holmes, Reza Ghassemifar, Jill Finlayson, Christopher Newbound, Michelle Jennens, Dianne Grey, John Beilby, Nicole Pell
Publikováno v:
Hemoglobin. 35:142-146
We describe a novel frameshift mutation associated with an α-thalassemia (α-thal) phenotype in a patient of Sudanese origin investigated for persistent microcytosis. In addition to the α(3.7) deletion, a novel mutation on the α2 gene was detected
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68ec8c602ca08f949552090f803e3027
https://doi.org/10.3109/03630269.2011.557462
https://doi.org/10.3109/03630269.2011.557462
Autor:
Steven Wiltshire, Joseph Hung, Brendan McQuillan, Brendan T. X. Foo, Brenda Powell, John Beilby, Yuen C. Leow, Pamela A. McCaskie, Lyle J. Palmer, Kim W. Carter, Peter L. Thompson, Michelle Jennens
Publikováno v:
Human Genetics. 124:199-206
The objective of this study was to determine whether single nucleotide polymorphisms (SNPs) in the Interleukin-1 (IL-1) gene family are associated with central obesity and metabolic syndrome in a coronary heart disease population. The IL-1 alpha C-88
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1034594fa9ff79aa50527976be68d57
https://doi.org/10.1007/s00439-008-0540-6
https://doi.org/10.1007/s00439-008-0540-6
Autor:
Christopher Newbound, Michelle Jennens, Talal Qadah, Reza Ghassemifar, Paula Holmes, Dianne Grey, John Beilby, Jill Finlayson, Nicole Pell
Publikováno v:
Pathology. 44(4)
Summary Aim While the phenotype for heterozygous beta-thalassae-mia is straightforward, it is more difficult to confirm a causative relationship for mutations in the alpha-globin genes. The aim of this study was to generate an in vitro system to eval
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a3c6ad9299dacd9c925098d69f63657
https://pubmed.ncbi.nlm.nih.gov/22531344
https://pubmed.ncbi.nlm.nih.gov/22531344
Autor:
Christopher Newbound, Michelle Jennens, Jill Finlayson, Claire Macaulay, Paula Holmes, Reza Ghassemifar, Lisa Figliomeni, Laura Greenwood, Michael Kersten, Nicole Pell, Dianne Grey, John Beilby
Publikováno v:
Hemoglobin. 34(6)
Routine hemoglobin (Hb) analyses identified a new β-globin variant in a family from East Timor. The red cell indices were within normal limits for all affected family members. The variant is due to a missense mutation at amino acid codon 80 (AAC>CAC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40611badd85fcbd35500e6ea5cb3c866
https://pubmed.ncbi.nlm.nih.gov/21077763
https://pubmed.ncbi.nlm.nih.gov/21077763
Autor:
John Beilby, Joseph Hung, Steven Wiltshire, Brenda Powell, Pamela A. McCaskie, Michelle Jennens, Lyle J. Palmer, Brendan McQuillan, Kim W. Carter, Peter L. Thompson
Publikováno v:
Human genetics. 123(3)
Endothelin-1 is a potent vasoconstrictor in the body. Previous studies have identified associations between the coding polymorphism K198N and hypertension, systolic blood pressure and HDL levels. We sought to examine the evidence for these associatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6eae097715ff30103321a557c611047d
https://pubmed.ncbi.nlm.nih.gov/18288492
https://pubmed.ncbi.nlm.nih.gov/18288492
Autor:
Joseph Hung, John Beilby, Pamela A. McCaskie, Caroline M. L. Chapman, Steve E. Humphries, Simon Thompson, Peter L. Thompson, Michelle Jennens
Publikováno v:
Clinical chemistry. 53(12)
Background: Interleukin (IL)-18 is a proinflammatory cytokine that has been implicated in several diseases, including atherosclerosis, and increased circulating IL-18 concentrations increase risk of future coronary heart disease (CHD). We evaluated t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b77a8fdde66b34bb5be17408442d7c3
https://pubmed.ncbi.nlm.nih.gov/17962365
https://pubmed.ncbi.nlm.nih.gov/17962365
Autor:
Peter L. Thompson, Joseph Hung, John Beilby, Fan Zhang, Brenda Powell, Pamela A. McCaskie, Steven Wiltshire, Kim W. Carter, Jing Xiao, Lyle J. Palmer, Brendan McQuillan, Michelle Jennens
Publikováno v:
Atherosclerosis. 199(2)
Serum high density lipoprotein (HDL) levels are inversely related to the development of coronary artery disease (CAD). Apolipoproteins AI and AII are the major protein constituents of HDL particles. APOAI and APOAII genetic polymorphisms have been pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd2f30a8eb0119f221abc4381884d655
https://pubmed.ncbi.nlm.nih.gov/18179799
https://pubmed.ncbi.nlm.nih.gov/18179799
Autor:
Laura Greenwood, Nicole Pell, Paula Holmes, Reza Ghassemifar, Jill Finlayson, John Beilby, Christopher Newbound, Annie Chow, Dianne Grey, Michelle Jennens
Publikováno v:
Pathology. 44:S51-S52
Background and Aim Alpha-thalassaemia is often caused by deletion of alpha (α) globin gene/s on chromosome 16p. Non-deletional mutations (α T ), detected on a globin gene sequencing, are uncommon. Rarely, these two types of mutations co-exist. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6d42b36eb7873adda3d99341ffb33b14
https://doi.org/10.1016/s0031-3025(16)32722-2
https://doi.org/10.1016/s0031-3025(16)32722-2