Search Results - (Author, Cooperation:C. G. Mathew)

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  1. 1
    S. Sawcer ; G. Hellenthal ; M. Pirinen ; C. C. Spencer ; N. A. Patsopoulos ; L. Moutsianas ; A. Dilthey ; Z. Su ; C. Freeman ; S. E. Hunt ; S. Edkins ; E. Gray ; D. R. Booth ; S. C. Potter ; A. Goris ; G. Band ; A. B. Oturai ; A. Strange ; J. Saarela ; C. Bellenguez ; B. Fontaine ; M. Gillman ; B. Hemmer ; R. Gwilliam ; F. Zipp ; A. Jayakumar ; R. Martin ; S. Leslie ; S. Hawkins ; E. Giannoulatou ; S. D'Alfonso ; H. Blackburn ; F. Martinelli Boneschi ; J. Liddle ; H. F. Harbo ; M. L. Perez ; A. Spurkland ; M. J. Waller ; M. P. Mycko ; M. Ricketts ; M. Comabella ; N. Hammond ; I. Kockum ; O. T. McCann ; M. Ban ; P. Whittaker ; A. Kemppinen ; P. Weston ; C. Hawkins ; S. Widaa ; J. Zajicek ; S. Dronov ; N. Robertson ; S. J. Bumpstead ; L. F. Barcellos ; R. Ravindrarajah ; R. Abraham ; L. Alfredsson ; K. Ardlie ; C. Aubin ; A. Baker ; K. Baker ; S. E. Baranzini ; L. Bergamaschi ; R. Bergamaschi ; A. Bernstein ; A. Berthele ; M. Boggild ; J. P. Bradfield ; D. Brassat ; S. A. Broadley ; D. Buck ; H. Butzkueven ; R. Capra ; W. M. Carroll ; P. Cavalla ; E. G. Celius ; S. Cepok ; R. Chiavacci ; F. Clerget-Darpoux ; K. Clysters ; G. Comi ; M. Cossburn ; I. Cournu-Rebeix ; M. B. Cox ; W. Cozen ; B. A. Cree ; A. H. Cross ; D. Cusi ; M. J. Daly ; E. Davis ; P. I. de Bakker ; M. Debouverie ; B. D'Hooghe M ; K. Dixon ; R. Dobosi ; B. Dubois ; D. Ellinghaus ; I. Elovaara ; F. Esposito ; C. Fontenille ; S. Foote ; A. Franke ; D. Galimberti ; A. Ghezzi ; J. Glessner ; R. Gomez ; O. Gout ; C. Graham ; S. F. Grant ; F. R. Guerini ; H. Hakonarson ; P. Hall ; A. Hamsten ; H. P. Hartung ; R. N. Heard ; S. Heath ; J. Hobart ; M. Hoshi ; C. Infante-Duarte ; G. Ingram ; W. Ingram ; T. Islam ; M. Jagodic ; M. Kabesch ; A. G. Kermode ; T. J. Kilpatrick ; C. Kim ; N. Klopp ; K. Koivisto ; M. Larsson ; M. Lathrop ; J. S. Lechner-Scott ; M. A. Leone ; V. Leppa ; U. Liljedahl ; I. L. Bomfim ; R. R. Lincoln ; J. Link ; J. Liu ; A. R. Lorentzen ; S. Lupoli ; F. Macciardi ; T. Mack ; M. Marriott ; V. Martinelli ; D. Mason ; J. L. McCauley ; F. Mentch ; I. L. Mero ; T. Mihalova ; X. Montalban ; J. Mottershead ; K. M. Myhr ; P. Naldi ; W. Ollier ; A. Page ; A. Palotie ; J. Pelletier ; L. Piccio ; T. Pickersgill ; F. Piehl ; S. Pobywajlo ; H. L. Quach ; P. P. Ramsay ; M. Reunanen ; R. Reynolds ; J. D. Rioux ; M. Rodegher ; S. Roesner ; J. P. Rubio ; I. M. Ruckert ; M. Salvetti ; E. Salvi ; A. Santaniello ; C. A. Schaefer ; S. Schreiber ; C. Schulze ; R. J. Scott ; F. Sellebjerg ; K. W. Selmaj ; D. Sexton ; L. Shen ; B. Simms-Acuna ; S. Skidmore ; P. M. Sleiman ; C. Smestad ; P. S. Sorensen ; H. B. Sondergaard ; J. Stankovich ; R. C. Strange ; A. M. Sulonen ; E. Sundqvist ; A. C. Syvanen ; F. Taddeo ; B. Taylor ; J. M. Blackwell ; P. Tienari ; E. Bramon ; A. Tourbah ; M. A. Brown ; E. Tronczynska ; J. P. Casas ; N. Tubridy ; A. Corvin ; J. Vickery ; J. Jankowski ; P. Villoslada ; H. S. Markus ; K. Wang ; C. G. Mathew ; J. Wason ; C. N. Palmer ; H. E. Wichmann ; R. Plomin ; E. Willoughby ; A. Rautanen ; J. Winkelmann ; M. Wittig ; R. C. Trembath ; J. Yaouanq ; A. C. Viswanathan ; H. Zhang ; N. W. Wood ; R. Zuvich ; P. Deloukas ; C. Langford ; A. Duncanson ; J. R. Oksenberg ; M. A. Pericak-Vance ; J. L. Haines ; T. Olsson ; J. Hillert ; A. J. Ivinson ; P. L. De Jager ; L. Peltonen ; G. J. Stewart ; D. A. Hafler ; S. L. Hauser ; G. McVean ; P. Donnelly ; A. Compston
    Nature Publishing Group (NPG)
    Published 2011
    Staff View
    Publication Date:
    2011-08-13
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Alleles ; Cell Differentiation/immunology ; Europe/ethnology ; Genetic Predisposition to Disease/*genetics ; Genome, Human/genetics ; Genome-Wide Association Study ; HLA-A Antigens/genetics ; HLA-DR Antigens/genetics ; HLA-DRB1 Chains ; Humans ; Immunity, Cellular/genetics/*immunology ; Major Histocompatibility Complex/genetics ; Multiple Sclerosis/*genetics/*immunology ; Polymorphism, Single Nucleotide/genetics ; Sample Size ; T-Lymphocytes, Helper-Inducer/cytology/immunology
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  2. 2
    L. Jostins ; S. Ripke ; R. K. Weersma ; R. H. Duerr ; D. P. McGovern ; K. Y. Hui ; J. C. Lee ; L. P. Schumm ; Y. Sharma ; C. A. Anderson ; J. Essers ; M. Mitrovic ; K. Ning ; I. Cleynen ; E. Theatre ; S. L. Spain ; S. Raychaudhuri ; P. Goyette ; Z. Wei ; C. Abraham ; J. P. Achkar ; T. Ahmad ; L. Amininejad ; A. N. Ananthakrishnan ; V. Andersen ; J. M. Andrews ; L. Baidoo ; T. Balschun ; P. A. Bampton ; A. Bitton ; G. Boucher ; S. Brand ; C. Buning ; A. Cohain ; S. Cichon ; M. D'Amato ; D. De Jong ; K. L. Devaney ; M. Dubinsky ; C. Edwards ; D. Ellinghaus ; L. R. Ferguson ; D. Franchimont ; K. Fransen ; R. Gearry ; M. Georges ; C. Gieger ; J. Glas ; T. Haritunians ; A. Hart ; C. Hawkey ; M. Hedl ; X. Hu ; T. H. Karlsen ; L. Kupcinskas ; S. Kugathasan ; A. Latiano ; D. Laukens ; I. C. Lawrance ; C. W. Lees ; E. Louis ; G. Mahy ; J. Mansfield ; A. R. Morgan ; C. Mowat ; W. Newman ; O. Palmieri ; C. Y. Ponsioen ; U. Potocnik ; N. J. Prescott ; M. Regueiro ; J. I. Rotter ; R. K. Russell ; J. D. Sanderson ; M. Sans ; J. Satsangi ; S. Schreiber ; L. A. Simms ; J. Sventoraityte ; S. R. Targan ; K. D. Taylor ; M. Tremelling ; H. W. Verspaget ; M. De Vos ; C. Wijmenga ; D. C. Wilson ; J. Winkelmann ; R. J. Xavier ; S. Zeissig ; B. Zhang ; C. K. Zhang ; H. Zhao ; M. S. Silverberg ; V. Annese ; H. Hakonarson ; S. R. Brant ; G. Radford-Smith ; C. G. Mathew ; J. D. Rioux ; E. E. Schadt ; M. J. Daly ; A. Franke ; M. Parkes ; S. Vermeire ; J. C. Barrett ; J. H. Cho
    Nature Publishing Group (NPG)
    Published 2012
    Staff View
    Publication Date:
    2012-11-07
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Colitis, Ulcerative/genetics/immunology/microbiology/physiopathology ; Crohn Disease/genetics/immunology/microbiology/physiopathology ; Genetic Predisposition to Disease/*genetics ; Genome, Human/genetics ; *Genome-Wide Association Study ; Haplotypes/genetics ; *Host-Pathogen Interactions/genetics/immunology ; Humans ; Inflammatory Bowel Diseases/*genetics/immunology/*microbiology/physiopathology ; Mycobacterium/*immunology/pathogenicity ; Mycobacterium Infections/genetics/microbiology ; Mycobacterium tuberculosis/immunology/pathogenicity ; Phenotype ; Polymorphism, Single Nucleotide/genetics ; Reproducibility of Results
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  3. 3
    Staff View
    Publication Date:
    2013-05-24
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Autoimmune Diseases/*genetics ; European Continental Ancestry Group/genetics ; Exons/genetics ; Gene Frequency ; Genetic Predisposition to Disease/*genetics ; Genetic Variation/*genetics ; Genome-Wide Association Study ; Great Britain ; Humans ; Models, Genetic ; Mutation/genetics ; Open Reading Frames/*genetics ; Phenotype ; Sample Size
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  4. 4
    Staff View
    ISSN:
    1600-0625
    Source:
    Blackwell Publishing Journal Backfiles 1879-2005
    Topics:
    Medicine
    Notes:
    Abstract: A C-insertion polymorphism in the NOD2 gene (3020insC) on chromosome 16 is a rare mutation associated with Crohn's disease. Crohn's disease and psoriasis are more commonly observed together than expected by chance. Furthermore a susceptibility locus for psoriasis has been identified on chromosome 16q which overlaps the recently identified susceptibility locus for Crohn's disease. Thus, NOD2 may potentially be important as a candidate susceptibility gene for psoriasis. We tested this hypothesis by genotyping psoriasis patients for the C-insertion polymorphism using the Taqman ABI 7700 sequencing system. No statistically significant differences were observed between psoriasis vulgaris (n = 216), palmo-plantar pustular psoriasis (PPP) (n = 100), guttate psoriasis (n = 118) and the control group (n = 283). In both patient and control groups, no mutant homozygotes were observed and approximately 4% were heterozygotes. This particular insertion mutation in the NOD2 gene does not appear to contribute to the genetic susceptibility of psoriasis vulgaris, PPP or guttate psoriasis. However, other mutations exist in the NOD2 gene, which may potentially have a role in psoriasis susceptibility.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1034/j.1600-0625.2002.120420.x

    Articles: DFG German National Licenses
  5. 5
    Staff View
    ISSN:
    1432-1440
    Keywords:
    Multiple endocrine neoplasia type IIa ; Pheochromocytoma ; Medullary thyroid carcinoma ; Hyperparathyroidism ; Chromosome banding studies ; DNA linkage analysis
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Summary We report on incidental findings during family screening of two kindreds with multiple endocrine neoplasia type IIa. Pheochromocytoma and medullary thyroid carcinoma of considerable size were detected. The results underline the importance of early diagnosis of the syndrome, since the afflicted may be almost or wholly asymptomatic. High resolution chromosome banding studies were carried out in both families, but no abnormality was found. Linkage analysis using DNA markers closely related to the chromosomal locus at chromosome 10 was carried out and was positive in two asymptomatic offspring of one family, whereas the markers were not informative in a second family. We recommend early linkage analysis for establishing the genetic status in offspring of multiple endocrine neoplasia type IIa families to identify for further screening those who are predicted to be gene carrier.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF01721424

    Articles: DFG German National Licenses
  6. 6
    Staff View
    ISSN:
    1476-4687
    Source:
    Nature Archives 1869 - 2009
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Notes:
    [Auszug] Fourteen three-generation families were identified in which a new mutation to NF-1 had occurred in a single individual in the second generation. DNA typing of these families for loci closely linked to NF-1 (results summarized in Table 1 and Fig. 1) showed that in 12 of the 14 cases, it was ...
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1038/343558a0

    Articles: DFG German National Licenses
  7. 7
    Staff View
    ISSN:
    1476-4687
    Source:
    Nature Archives 1869 - 2009
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Notes:
    [Auszug] The use of DNA probes to detect linkage between a restriction fragment length polymorphism (RFLP) and a mutated locus has led to the successful mapping of inherited disorders such as Duchenne muscular dystrophy4, Huntington's chorea5, poly-cystic kidney disease6 and cystic fibrosis7'8. In view of ...
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1038/328527a0

    Articles: DFG German National Licenses
  8. 8
    Mathew, C. G. P. ; Smith, B. A. ; Thorpe, K. ; Wong, Z. ; Royle, N. J. ; Jeffreys, A. J. ; Ponder, B. A. J.

    [s.l.] : Nature Publishing Group
    Published 1987
    Staff View
    ISSN:
    1476-4687
    Source:
    Nature Archives 1869 - 2009
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Notes:
    [Auszug] We chose to search for loss of heterozygosity by using a panel of locus-specific minisatellite probes10'11 isolated from a human genomic library using the minisatellite probes 33.15 and 33.6 (ref. 12). These locus-specific probes each detect multiple alleles with a high degree of heterozygosity, ...
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1038/328524a0

    Articles: DFG German National Licenses
  9. 9
    Staff View
    ISSN:
    1432-1211
    Keywords:
    Key words Inflammatory bowel ; Crohn's ; Ulcerative colitis ; Interleukin-4 receptor ; Association
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Abstract  Genetic linkage analysis in families with multiple cases of inflammatory bowel disease (IBD) has mapped a gene which confers susceptibility to IBD to the pericentromeric region of chromosome 16 (IBD1). The linked region includes the interleukin(IL)-4 receptor gene (IL4R). Since IL-4 regulation and expression are abnormal in IBD, the IL4R gene is thus both a positional and functional candidate for IBD1. We screened the gene for single-nucleotide polymorphisms (SNPs) by fluorescent chemical cleavage analysis, and tested a subset of known and novel SNPs for allelic association with IBD in 355 families, which included 435 cases of Crohn's disease and 329 cases of ulcerative colitis. No association was observed between a haplotype of four SNPs (val50ile, gln576arg, A3044G, G3289A) and either the Crohn's disease or ulcerative colitis phenotypes using the transmission disequilibrium test. There was also no evidence for association when the four markers were analyzed individually. The results indicate that these variants are not significant genetic determinants of IBD, and that the IL4R gene is unlikely to be IBD1. Linkage disequilibrium analyses showed that the val50ile and gln576arg variants are in complete equilibrium with each other, although they are separated by only about 21 kilobases of genomic DNA. This suggests that a very dense SNP map may be required to exclude or detect disease associations with some candidate genes.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/s002510050001

    Articles: DFG German National Licenses
  10. 10
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Summary Structural defects in the human type 1 collagen genes are known to be the cause of several inherited disorders of connective tissue, such as osteogenesis imperfecta. The analysis and prenatal diagnosis of these disorders would be facilitated by establishing a set of polymorphic markers at these gene loci. We have previously reported the presence of an Msp 1 restriction fragment length polymorphism in the proα2(1) collagen genes of several Southern African populations (Grobler-Rabie et al., in press). This report describes the detection of a Bgl II and an EcoRI polymorphism in the proα2 gene of South African Blacks.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00389452

    Articles: DFG German National Licenses
  11. 11
    Staff View
    ISSN:
    1432-1262
    Keywords:
    Key words Pro-inflammatory cytokines ; Crohn's disease ; Ulcerative colitis ; Susceptibility
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract Epidemiological and genome-wide linkage analyses have provided firm evidence for a genetic component in the pathogenesis of inflammatory bowel disease. The linkage regions on chromosomes 12 and 16 have been replicated in several independent samples. These represent the best positional evidence in the search for inflammatory bowel disease susceptibility genes. While systematic association and physical mapping studies in these regions are under way, the direct analysis of immunologically relevant genes as positional and functional candidates may provide a shortcut in this process. The interferon-γ gene resides in the chromosome 12 linkage region near the marker D12S83. Interferon-γ is an important proinflammatory cytokine in the interleukin-12 cascade and has been implicated in the pathogenesis of mucosal inflammation. We tested this gene for evidence of linkage and association in 133 German multiplex families and 506 single patients with their parents. An intragenic, highly informative CA-repeat marker in intron 1 of the gene was typed using fluorescence-labeled polymerase chain reaction and analysis on an automated sequencer. In the nonparametric linkage analysis using GENEHUNTER, a nonsignificant maximum LOD score of 0.67 was obtained. The transmission disequilibrium test for association was negative (P≥0.22) for Crohn's disease, ulcerative colitis, and the combined inflammatory bowel disease phenotype. In summary, the findings make interferon-γ a very unlikely candidate for the major susceptibility gene in the chromosome 12 linkage interval. Future efforts can concentrate on other transcripts in the region.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/s003840050173

    Articles: DFG German National Licenses