M A Kelly
Affiliation: University of Birmingham
- Circadian gene variants and susceptibility to type 2 diabetes: a pilot studyM Ann Kelly
College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom
PLoS ONE 7:e32670. 2012..The variants were chosen based on their previously reported association with prostate cancer, a disease that has been suggested to have a genetic link with type 2 diabetes through a number of shared inherited risk determinants...
- The promoter polymorphism -232C/G of the PCK1 gene is associated with type 2 diabetes in a UK-resident South Asian populationSimon D Rees
College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK
BMC Med Genet 10:83. 2009..We therefore aimed to investigate the association between common variants of the PCK1 gene and T2D in a UK-resident South Asian population of Punjabi ancestry, originating predominantly from the Mirpur area of Azad Kashmir, Pakistan...
- Common variants of the TCF7L2 gene are associated with increased risk of type 2 diabetes mellitus in a UK-resident South Asian populationSimon D Rees
Division of Medical Sciences, University of Birmingham, Birmingham, UK
BMC Med Genet 9:8. 2008..The aim of this study was to determine whether variants of this gene are also risk factors for type 2 diabetes development in a UK-resident South Asian cohort of Punjabi ancestry...
- Molecular aspects of type 1 diabetesM A Kelly
Department of Medicine, Division of Medical Sciences, University of Birmingham and Birmingham Heartlands Hospital, Birmingham B9 5SS, UK
Mol Pathol 56:1-10. 2003..This review will focus on the mechanisms by which these genes might influence the risk of developing type 1 diabetes...
- Long-term expression of an HLA-DQ molecule in the EBV-transformed bare lymphocyte cell line, BLS-1, using a plasmid vectorM A Kelly
Department of Medicine, Division of Medical Sciences, University of Birmingham and Birmingham Heartlands Hospital, Birmingham, UK
Scand J Immunol 55:599-605. 2002..These clones will be used in functional studies to investigate the antigen binding and T-cell activation properties of the DQ6 molecule...
- HLA typing and immunological characterization of young-onset diabetes mellitus in a Hong Kong Chinese populationM A Kelly
Department of Medicine, University of Birmingham, UK
Diabet Med 18:22-8. 2001....
- An investigation of HLA-encoded genetic susceptibility to multiple sclerosis in subjects of Asian Indian and Afro-Caribbean ethnic originM A Kelly
Department of Medicine, University of Birmingham, United Kingdom
Tissue Antigens 45:197-202. 1995..Our study also raises the possibility that genetically distinct forms of the disease may be expressed in white Caucasian and non-Caucasian populations...
- HLA-DQ and DRB1 polymorphism and susceptibility to type 1 diabetes in JamaicaJ M Heward
Department of Medicine, Division of Medical Sciences, University of Birmingham, Queen Elizabeth Hospital, Edgbaston, Birmingham B15 2TH, UK
Eur J Immunogenet 29:47-52. 2002..Further support is provided for roles of the DQ genes and the DRB1 gene (or a gene in linkage disequilibrium with it) in determining susceptibility to type 1 diabetes...
- Differential expression of HLA-DQ alleles in peripheral blood mononuclear cells: alleles associated with susceptibility to and protection from autoimmune type 1 diabetesA C Britten
Department of Medicine, Division of Medical Sciences, University of Birmingham, Birmingham, UK
Int J Immunogenet 36:47-57. 2009..The functional relevance of our findings and their implications for the pathogenesis of autoimmunity remain to be determined...
- An FTO variant is associated with Type 2 diabetes in South Asian populations after accounting for body mass index and waist circumferenceS D Rees
College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK
Diabet Med 28:673-80. 2011....
- Genetics of type 1 diabetesM A Kelly
Department of Medicine, Queen Elizabeth Hospital, Birmingham, Edgbaston, B15 2TH, UK
Best Pract Res Clin Endocrinol Metab 15:279-91. 2001..The IDDM2 locus maps to a variable number of tandem repeats in the insulin gene region on chromosome 11. Further research is necessary to determine the precise location and identity of other diabetes susceptibility genes...
- Sequencing of the second exon of the MHC class II DQ6 alleles in patients with type 1 diabetesM L Rayner
Department of Medicine, Queen Elizabeth Hospital, Edgbaston, Birmingham, UK
Autoimmunity 35:155-7. 2002..No mutations were found. This suggests that all the subjects possessed the "wild-type" second exons of the DQ6 alleles and, hence, that the protective effect associated with the antigen-binding domain of DQ6 is not absolute...
- Replication of 13 genome-wide association (GWA)-validated risk variants for type 2 diabetes in Pakistani populationsS D Rees
Diabetes Research Laboratory, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, The Medical School, University of Birmingham, Vincent Drive, Edgbaston, Birmingham B15 2TT, UK
Diabetologia 54:1368-74. 2011....
- A missense mutation in the OCTN2 gene associated with residual carnitine transport activityY Wang
Division of Medical Genetics, Department of Pediatrics, Emory University, Atlanta, Georgia 30322, USA
Hum Mutat 15:238-45. 2000..These results indicate that primary carnitine deficiency can be caused by mutations encoding for carnitine transporters with residual activity, and that the E452K affects a domain not involved in carnitine recognition...
- Genetic susceptibility to multiple sclerosis: detection of polymorphic nucleotides and an intron in the 3' untranslated region of the major histocompatibility complex class II transactivator geneH B Rasmussen
Department of Life Sciences and Chemistry, Roskilde University, Denmark
Hum Immunol 62:371-7. 2001..So far, the function and significance of the intron in the human and mouse CIITA genes are unknown...
- CTLA4 in multiple sclerosis. Lack of genetic association in a European Caucasian population but evidence of interaction with HLA-DR2 among Shanghai ChineseH B Rasmussen
Department of Life Sciences, Roskilde University, PO Box 260, DK 4000 Roskilde, Denmark
J Neurol Sci 184:143-7. 2001..On the other hand, they raise the possibility that the development of MS in other ethnic groups involves interaction between CTLA4 and DR2...
- Additive effect of the HLA-DR15 haplotype on susceptibility to multiple sclerosisH B Rasmussen
Department of Life Sciences and Chemistry, Roskilde University, 1 Universitetsvej, DK 4000 Roskilde, Denmark
Mult Scler 7:91-3. 2001..Possible implications of our finding to future studies of the genetic background of MS is discussed...
- HLA alleles and IDDM in children in Hungary: a comparison with FinlandR Hermann
Department of Paediatrics, , Hungary
Hum Immunol 62:391-8. 2001..Other genetic and/or environmental influences must be involved...
- The indirect basal ganglia pathway in dopamine D(2) receptor-deficient miceM G Murer
INSERM U289, Hopital de la Salpetriere, Paris, France
Neuroscience 99:643-50. 2000....
- Disruption of the D2 dopamine receptor alters GH and IGF-I secretion and causes dwarfism in male miceG Diaz-Torga
Instituto de Biologia y Medicina Experimental, Consejo Nacional de Investigaciones Cientificas y Tecnicas, Buenos Aires, Argentina
Endocrinology 143:1270-9. 2002..In accordance, the D2R antagonist sulpiride lowered GH levels in 1-month-old wild-type mice. Our results indicate that lack of D2R alters the GHRH-GH-IGF-I axis, and impairs body growth and the somatotrope population...
- Germ cell defects and hematopoietic hypersensitivity to gamma-interferon in mice with a targeted disruption of the Fanconi anemia C geneM A Whitney
Department of Molecular and Medical Genetics, Vollum Institute, Oregon Regional Primate Center, Portland, USA
Blood 88:49-58. 1996..Progenitor cells from fac knock-out mice were hypersensitive to interferon gamma. This previously unrecognized phenotype may form the basis for BM failure in human FA...
- Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor functionL S Robbins
Vollum Institute for Advanced Biomedical Research, Oregon Health Sciences University, Portland 97201
Cell 72:827-34. 1993..The Eso-3J receptor is constitutively activated, while the Etob receptor remains hormone responsive and produces a greater activation of its effector, adenylyl cyclase, than does the wild-type allele...
- Host-guest study of left-handed polyproline II helix formationM A Kelly
Department of Molecular and Cellular Biochemistry, University of Kentucky, 800 Rose Street, Lexington, Kentucky 40536, USA
Biochemistry 40:14376-83. 2001..These data are the first step toward a molecular understanding of the formation of this important, and yet little studied, secondary structure...