Search Results - (Author, Cooperation:M. A. Kelly)
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1Latest Papers from Table of Contents or Articles in PressV. M. Narasimhan ; K. A. Hunt ; D. Mason ; C. L. Baker ; K. J. Karczewski ; M. R. Barnes ; A. H. Barnett ; C. Bates ; S. Bellary ; N. A. Bockett ; K. Giorda ; C. J. Griffiths ; H. Hemingway ; Z. Jia ; M. A. Kelly ; H. A. Khawaja ; M. Lek ; S. McCarthy ; R. McEachan ; A. O'Donnell-Luria ; K. Paigen ; C. A. Parisinos ; E. Sheridan ; L. Southgate ; L. Tee ; M. Thomas ; Y. Xue ; M. Schnall-Levin ; P. M. Petkov ; C. Tyler-Smith ; E. R. Maher ; R. C. Trembath ; D. G. MacArthur ; J. Wright ; R. Durbin ; D. A. van Heel
American Association for the Advancement of Science (AAAS)
Published 2016Staff ViewPublication Date: 2016-03-05Publisher: American Association for the Advancement of Science (AAAS)Print ISSN: 0036-8075Electronic ISSN: 1095-9203Topics: BiologyChemistry and PharmacologyComputer ScienceMedicineNatural Sciences in GeneralPhysicsKeywords: Adult ; *Consanguinity ; DNA Mutational Analysis ; Drug Prescriptions ; Exome/genetics ; Female ; Fertility ; Gene Knockout Techniques ; Genes, Lethal ; Genetic Loci ; Genome, Human ; Great Britain ; *Health ; Histone-Lysine N-Methyltransferase/*genetics ; Homologous Recombination ; Homozygote ; Humans ; Male ; Mothers ; Pakistan/ethnology ; PhenotypePublished by: -
2Latest Papers from Table of Contents or Articles in PressL. Chen ; M. Kostadima ; J. H. Martens ; G. Canu ; S. P. Garcia ; E. Turro ; K. Downes ; I. C. Macaulay ; E. Bielczyk-Maczynska ; S. Coe ; S. Farrow ; P. Poudel ; F. Burden ; S. B. Jansen ; W. J. Astle ; A. Attwood ; T. Bariana ; B. de Bono ; A. Breschi ; J. C. Chambers ; F. A. Choudry ; L. Clarke ; P. Coupland ; M. van der Ent ; W. N. Erber ; J. H. Jansen ; R. Favier ; M. E. Fenech ; N. Foad ; K. Freson ; C. van Geet ; K. Gomez ; R. Guigo ; D. Hampshire ; A. M. Kelly ; H. H. Kerstens ; J. S. Kooner ; M. Laffan ; C. Lentaigne ; C. Labalette ; T. Martin ; S. Meacham ; A. Mumford ; S. Nurnberg ; E. Palumbo ; B. A. van der Reijden ; D. Richardson ; S. J. Sammut ; G. Slodkowicz ; A. U. Tamuri ; L. Vasquez ; K. Voss ; S. Watt ; S. Westbury ; P. Flicek ; R. Loos ; N. Goldman ; P. Bertone ; R. J. Read ; S. Richardson ; A. Cvejic ; N. Soranzo ; W. H. Ouwehand ; H. G. Stunnenberg ; M. Frontini ; A. Rendon
American Association for the Advancement of Science (AAAS)
Published 2014Staff ViewPublication Date: 2014-09-27Publisher: American Association for the Advancement of Science (AAAS)Print ISSN: 0036-8075Electronic ISSN: 1095-9203Topics: BiologyChemistry and PharmacologyComputer ScienceMedicineNatural Sciences in GeneralPhysicsKeywords: *Alternative Splicing ; Cell Lineage/*genetics ; Genetic Variation ; Hematopoiesis/*genetics ; Hematopoietic Stem Cells/*cytology/metabolism ; Humans ; NFI Transcription Factors/genetics/metabolism ; RNA-Binding Proteins/metabolism ; Thrombopoiesis/genetics ; TranscriptomePublished by: -
3Articles: DFG German National LicensesKelly, M. A. ; Rayner, M. L. ; Mijovic, C. H. ; Barnett, A. H.
Oxford, UK : Blackwell Science Ltd
Published 2002Staff ViewISSN: 1365-3083Source: Blackwell Publishing Journal Backfiles 1879-2005Topics: MedicineNotes: The HLA class II molecule, DQ6, confers strong natural protection against the development of type 1 diabetes. The mechanism of disease protection is unknown, but is likely to be related to the function of the molecule in antigen presentation. In order to investigate this function, we have created an in vitro model which expresses DQ6 in isolation by introducing the relevant DQ alleles into an Epstein–Barr virus (EBV)-transformed, human leucocyte antigen (HLA) class II-deficient B cell line, bare lymphocyte syndrome (BLS)-1. A recent report suggested that the expression of transferred genes in human EBV-transformed B cells might be limited in duration. We present a plasmid-based transfection method that allows long-term stable expression of the DQ molecule. The DQA1*0102 and DQB1*0602 alleles were cloned into the pCIneo expression vector and the constructs were introduced into BLS-1 by electroporation. Stable transfectants were selected using magnetic sorting and cloned by limiting dilution. Two clones were shown to express functionally active DQ6 molecules even after 14 months of continuous culture. These clones will be used in functional studies to investigate the antigen binding and T-cell activation properties of the DQ6 molecule.Type of Medium: Electronic ResourceURL: -
4Articles: DFG German National LicensesCavan, D. A. ; Jacobs, K. H. ; Penny, M. A. ; Kelly, M. A. ; Mijovic, C. ; Jenkins, D. ; Fletcher, J. A. ; Barnett, A. H.
Springer
Published 1993Staff ViewISSN: 1432-0428Keywords: Type 1 (insulin-dependent) diabetes mellitus ; HLA genes ; protectionSource: Springer Online Journal Archives 1860-2000Topics: MedicineNotes: Summary Inherited susceptibility to Type 1 (insulin-dependent) diabetes mellitus is partly determined by HLA genes. It has been suggested that protection from disease may be conferred by HLA-DQB1 genes which encode molecules with aspartate at position 57. We investigated the contributions of HLA-DRB1, DQA1 and DQB1 genes to protection from disease. Restriction fragment length polymorphism and sequence specific oligonucleotide analysis in 156 British Caucasian Type 1 diabetic and 116 control subjects showed protection from disease was associated with DR2, DRw6 and DR7 haplotypes. The most protective DQA1 allele was DQA1*0102 which occurred on both DR2 and DRw6 haplotypes. The DQB1 alleles DQB1*0303, DQB1*0602 and DQB1*0603 were associated with protection, as was DQB1*0604, which encodes an Asp-57 negative DQβmolecule. Heterozygosity for both protective and predisposing HLA markers was reduced in diabetic compared with control subjects. We conclude that both DQA1 and DQB1 genes are implicated in HLA-associated protection from Type 1 diabetes in this British Caucasian population. The overall structure of the DQ heterodimer is critical and DQβ-Asp 57 is of secondary importance in determining protection from disease. The effect of protective HLA types may predominate over that of predisposing markers.Type of Medium: Electronic ResourceURL: -
5Articles: DFG German National LicensesKelly, M. A. ; Alvi, N. S. ; Croft, N. J. ; Mijovic, C. H. ; Bottazzo, G. F. ; Barnett, A. H.
Springer
Published 2000Staff ViewISSN: 1432-0428Keywords: Keywords Type I diabetes, Indo-Aryan, immunogenetics, HLA genes, islet-related autoantibodies.Source: Springer Online Journal Archives 1860-2000Topics: MedicineNotes: Abstract Aims/hypothesis. Our aim was to characterise the genetic and immunological features associated with Type I (insulin-dependent) diabetes mellitus in a cohort of Indo-Aryan children resident in the United Kingdom.¶Methods. Children with Type I diabetes (n = 53), unaffected first-degree relatives (n = 146) and unrelated healthy control children (n = 54) were typed for alleles of the HLA-DRB1, HLA-DQA1 and HLA-DQB1 genes. Islet cell antibodies and antibodies to glutamic acid decarboxylase, protein tyrosine phosphatase-2 (IA-2ic) and insulin were measured in the diabetic and control children.¶Results. The DRB1*03.DQA1*05.DQB1*02 haplotype was positively associated with the disease, occurring in 78 % of diabetic children compared with 22.6 % of healthy children (p c 〈 2.4 × 10–5). In simplex families, this haplotype was transmitted more frequently to the diabetic children than to their unaffected siblings (p 〈 1 × 10–4). The DRB1*04.DQA1* 03.DQB1*0302 haplotype was also transmitted preferentially to the diabetic probands (p 〈 0.025) but was not associated with disease in the case control study. Islet-related autoantibodies were detected in 89.6 % of diabetic patients compared with 11.8 % of control children (p 〈 1 × 10–6). Although protein tyrosine phosphatase-2 autoantibodies were detected more frequently among DRB1*04-positive diabetic patients compared with patients lacking this allele, the overall frequency of these autoantibodies was lower than observed in Europid diabetic subjects. This could reflect the absence of a disease association with DRB1*04 in the Indo-Aryan cohort.¶Conclusion/interpretation. Type I diabetes in our Indo-Aryan cohort is similar to the disease observed in Anglo-Europeans but has important immunogenetic differences. The low frequency of protein tyrosine phosphatase-2 autoantibodies among the Indo-Aryan diabetic children could have important implications for the design of future strategies for disease prediction in this population. [Diabetologia (2000) 43: 450–456]Type of Medium: Electronic ResourceURL: -
6Articles: DFG German National LicensesStaff View
ISSN: 1612-1112Keywords: Capillary electrophoresis ; Short-end injectionsSource: Springer Online Journal Archives 1860-2000Topics: Chemistry and PharmacologyNotes: Summary Minimum capillary lengths on commercial instruments are fixed and cannot be decreased further. To effectively reduce the capillary length used for separation the sample can be injected from the end of the capillary nearest the detector. This procedure is known as a ‘short-end’ injection and can reduces analysis times by at least two-thirds compared to conventional injections. The time reduction benefits are shown in rapid separations of basic drugs, drug-related impurities and chiral compounds. Short-end injections, in combination with both increased electrolyte strength and reduced voltage are an effective approach to reducing the detrimental impact of high sample solution ionic strength. They can also lead to improved resolution by increasing stacking effects and reducing peak tailing. Peak area and migration time precision obtained are shown to be equivalent to those obtained for conventional injection procedures. It is concluded that short-end injections should be considered for routine operation as they are a useful means of reducing analysis time, increasing sensitivity, decreasing buffer depletion effects. They also allow use of higher electrolyte strengths which can improve resolution and reduce peak tailing, and can overcome significant problems which occur when analysing samples containing high salt contents.Type of Medium: Electronic ResourceURL: -
7Articles: DFG German National LicensesStaff View
ISSN: 1618-2650Source: Springer Online Journal Archives 1860-2000Topics: Chemistry and PharmacologyDescription / Table of Contents: Summary Evidence is presented that old ESCA limitations and restrictions (e.g. big X-ray beam diameter or small “unrealistic” size of samples) are not valid any longer. The new SSX 100 ESCA spectrometer with its unique combination of ESCA innovations (focusing monochromator, parallel imaging detectors, high throughput electron optics and improved sample handling) makes solving surface problems much easier. Two applications on semiconductors and insulators using the small spot X-ray beam (diameter: 150 μm) demonstrate that small spot ESCA technique now can be applied on problems which could not be solved with conventional ESCA technique hitherto.Notes: Zusammenfassung Es wird gezeigt, daß bisherige Limitierungen und Restriktionen in der Anwendung der ESCA-Technik (z.B. der relativ große Strahldurchmesser oder die kleine „unrealistische“ Probengröße) nicht länger gültig sind. Das neue SSX 100 ESCA-System hilft bei der Lösung von Oberflächenproblemen ganz erheblich aufgrund seiner einzigartigen Kombination von sinnvollen und hilfreichen Innovationen (z.B. fokussierender Monochromator, parallel abbildender Detektor, effektive Elektronenoptik und ver besserte Probenhandhabung). Zwei Anwendungen bei Halbleitern und Isolatoren unter Benutzung des feinfokussierten Röntgenstrahls (Durchmesser: 150 μm) zeigen, daß die „small spot“ ESCA-Technik jetzt erfolgreich bei Problemen angewandt werden kann, die bisher mit konventionellem ESCA nicht zu lösen waren.Type of Medium: Electronic ResourceURL: -
8Articles: DFG German National LicensesProctor, C. S. ; Schmidt, M. B. ; Whipple, R. R. ; Kelly, M. A. ; Mow, V. C.
Hoboken, NJ [u.a.] : Wiley-Blackwell
Published 1989Staff ViewISSN: 0736-0266Keywords: Medial bovine meniscus ; Anisotropic and inhomogeneous material properties ; Confined compression and uniaxial tension tests ; Life and Medical SciencesSource: Wiley InterScience Backfile Collection 1832-2000Topics: MedicineNotes: The intrinsic compressive and tensile properties of normal bovine medial menisci were measured, and the variations in these properties with respect to the structural organization of the tissue and test specimen location were examined. Using a confined compression experiment, the compressive aggregate modulus and permeability of the meniscus were determined. The permeability of the tissue was also compared with the permeability as measured experimentally using a direct permeation experiment. Deep posterior specimens are significantly stiffer in compression than deep anterior and central-anterior specimens, while deep anterior specimens are significantly less stiff than deep posterior and central-posterior sepcimens. Posterior specimens have a significantly higher average water content. In addition, the permeability of the bovine meniscus was found to be about one-tenth that of bovine articular cartilage. The tensile stiffness of meniscal tissue was determined from constant strain rate uniaxial tension tests. To asses the directional variations in the tensile properties, specimens were obtained from the circumferential and radial orientations. The results indicate that the femoral surface of the meniscus is isotropic in tension, while specimens from within the meniscus are anisotropic - the circumferential specimens are much stiffer than the radial specimens. Furthermore, circumferential posterior specimens from the interior of the meniscus are significantly stiffer than similar anterior specimens. Layer inhomogeneities in the tensile properties with respect to distance from the femoral surface are also present.Additional Material: 9 Ill.Type of Medium: Electronic ResourceURL: