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Fine-mapping the MHC locus in juvenile idiopathic arthritis (JIA) reveals genetic heterogeneity corresponding to distinct adult inflammatory arthritic diseases

Autor: Hinks, Anne, Bowes, John, Cobb, Joanna, Ainsworth, H. C., Marion, M. C., Comeau, M. E., Han, B., Becker, M. L., Bohnsack, J. F., de Bakker, P. I. W., Haas, J. P., Hazen, M., Lovell, D. J., Nigrovic, P. A., Nordal, E., Punnaro, M., Rosenberg, A. M., Rygg, M., Smith, Samantha, Wise, C. A., Videm, V., Wedderburn, L. R., Yarwood, Annie, Yeung, R. S. M., Prahalad, S., Langefeld, C. D., Raychaudhuri, Soumya, Thompson, S. D., Thomson, Wendy

Publikováno v: Hinks, A, Bowes, J, Cobb, J, Ainsworth, H C, Marion, M C, Comeau, M E, Han, B, Becker, M L, Bohnsack, J F, de Bakker, P I W, Haas, J P, Hazen, M, Lovell, D J, Nigrovic, P A, Nordal, E, Punnaro, M, Rosenberg, A M, Rygg, M, Smith, S, Wise, C A, Videm, V, Wedderburn, L R, Yarwood, A, Yeung, R S M, Prahalad, S, Langefeld, C D, Raychaudhuri, S, Thompson, S D & Thomson, W 2017, ' Fine-mapping the MHC locus in juvenile idiopathic arthritis (JIA) reveals genetic heterogeneity corresponding to distinct adult inflammatory arthritic diseases. ', Annals of the rheumatic diseases, vol. 76, no. 4, pp. 765–772 . https://doi.org/10.1136/annrheumdis-2016-210025

Objectives:Juvenile idiopathic arthritis (JIA) is a heterogeneous group of diseases, comprising seven categories. Genetic data could potentially be used to help redefine JIA categories and improve the current classification system. The human leukocyt

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3818::ae6a6ab88d6414ff9ccac1901a1d6d20
https://www.research.manchester.ac.uk/portal/en/publications/finemapping-the-mhc-locus-in-juvenile-idiopathic-arthritis-jia-reveals-genetic-heterogeneity-corresponding-to-distinct-adult-inflammatory-arthritic-diseases(fd9f6e13-a22b-4949-a75b-9566207b5443).html

The FHIT gene product is highly expressed in the cytoplasm of renal tubular epithelium and is down-regulated in kidney cancers

Autor: Xiao, G. H., Jin, F., Klein-Szanto, A. J., Goodrow, T. L., Linehan, M. W., Yeung, R. S.

Loss of heterozygosity and homozygous deletion of the 3p14.2 region in human cancers implies the existence of a tumor suppressor gene. One such candidate is the fragile histidine triad (FHIT) gene. To investigate the role of FHIT gene product in tumo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b3103223e7fa3b1fd6f2a8466d2284e7
https://europepmc.org/articles/PMC1858346/

Expression of the TSC2 product tuberin and its target Rap1 in normal human tissues

Autor: Wienecke, R., Maize, J. C., Reed, J. A., de Gunzburg, J., Yeung, R. S., DeClue, J. E.

The tuberous sclerosis-2 (TSC2) gene is linked to tuberous sclerosis (TSC), a dominantly inherited genetic syndrome in which inactivation of the normal TSC2 allele is associated with the development of mostly benign tumors and focal dysplasias. TSC2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::680d24406936949b3d140b744c7b6527
https://europepmc.org/articles/PMC1858502/