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Uppsala University Uppsala University Department of Medical Biochemistry and Microbiology
Department of Medical Biochemistry and Microbiology
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Uppsala University Department of Medical ... Research groups Genetics and genomics Rosengren Pielberg Gerli Publications
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  • Research areas
  • Research groups
  • Publications at IMBIM
  • Infrastructure
  • Professor Emeriti
  • Education
  • Seminars
  • Contact
  • INTERNAL INFO

Publications

  • Identification and Functional Characterization of a Novel Susceptibility Locus for Small Vessel Vasculitis with MPO-ANCA.

    Dahlqvist, J., Ekman, D., Sennblad, B., Kozyrev, S., Nordin, J. et al. (2021). Rheumatology, . vol. 61, ss. 3461-3470 DOI
  • A novel canine reference genome resolves genomic architecture and uncovers transcript complexity.

    Wang, C., Wallerman, O., Arendt, M., Sundström, E., Karlsson, Å. et al. (2021). Communications Biology, . vol. 4 DOI
  • Whole-genome genotyping and resequencing reveal the association of a deletion in the complex interferon alpha gene cluster with hypothyroidism in dogs.

    Bianchi, M., Rafati, N., Karlsson, Å., Murén, E., Rubin, C. et al. (2020). BMC Genomics, . vol. 21 DOI
  • The risk allele A of rs200395694 associated with SLE in Swedish patients affects on MEF2D gene regulation and alternative splicing.

    Abramov, S., Kozyrev, S., Farias, F., Dahlqvist, J., Leonard, D. et al. (2018). Human Gene Therapy, vol. 29, ss. A44-A44
  • A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts.

    Farias, F., Dahlqvist, J., Kozyrev, S., Leonard, D., Wilbe, M. et al. (2019). European Journal of Human Genetics, vol. 27, ss. 432-441 DOI
  • Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison's disease in Sweden.

    Eriksson, D., Bianchi, M., Landegren, N., Dalin, F., Skov, J. et al. (2018). Scientific Reports, vol. 8 DOI
  • Cytokine Autoantibody Screening in the Swedish Addison Registry Identifies Patients With Undiagnosed APS1.

    Eriksson, D., Dalin, F., Eriksson, G., Landegren, N., Bianchi, M. et al. (2018). Journal of Clinical Endocrinology and Metabolism, vol. 103, ss. 179-186 DOI
  • Extended exome sequencing identifies BACH2 as a novel major risk locus for Addison's disease.

    Eriksson, D., Bianchi, M., Landegren, N., Nordin, J., Dalin, F. et al. (2016). Journal of Internal Medicine, vol. 286, ss. 595-608 DOI
  • Multiple regulatory variants located in cell type-specific enhancers within the PKP2 locus form major risk and protective haplotypes for canine atopic dermatitis in German shepherd dogs.

    Tengvall, K., Kozyrev, S., Kierczak, M., Bergvall, K., Farias, F. et al. (2016). BMC Genetics, vol. 17 DOI
  • Utilizing the Dog Genome in the Search for Novel Candidate Genes Involved in Glioma Development-Genome Wide Association Mapping followed by Targeted Massive Parallel Sequencing Identifies a Strongly Associated Locus.

    Truve, K., Dickinson, P., Xiong, A., York, D., Jayashankar, K. et al. (2016). PLOS Genetics, vol. 12 DOI
  • A Multi-Breed Genome-Wide Association Analysis for Canine Hypothyroidism Identifies a Shared Major Risk Locus on CFA12.

    Bianchi, M., Dahlgren, S., Massey, J., Dietschi, E., Kierczak, M. et al. (2015). PLOS ONE, vol. 10 DOI
  • Multiple Changes of Gene Expression and Function Reveal Genomic and Phenotypic Complexity in SLE-like Disease.

    Wilbe, M., Kozyrev, S., Farias, F., Bremer, H., Hedlund, A. et al. (2015). PLOS Genetics, vol. 11 DOI
  • Linked genetic variants on chromosome 10 control ear morphology and body mass among dog breeds.

    Webster, M., Kamgari, N., Perloski, M., Höppner, M., Axelsson, E. et al. (2015). BMC Genomics, vol. 16 DOI
  • Copy number expansion of the STX17 duplication in melanoma tissue from Grey horses.

    Sundström, E., Imsland, F., Mikko, S., Wade, C., Sigurdsson, S. et al. (2012). BMC Genomics, vol. 13, ss. 365- DOI
  • High-Throughput Sequencing of 219 Candidate Genes for Identification of SLE-Associated Risk Variants.

    Farias, F., Wilbe, M., Dahlqvist, J., Leonard, D., Kozyrev, S. et al. (2014). Arthritis & Rheumatology, vol. 66, ss. S1170-S1170
  • Constitutive activation of the ERK pathway in melanoma and skin melanocytes in Grey horses.

    Jiang, L., Campagne, C., Sundström, E., Sousa, P., Imran, S. et al. (2014). BMC Cancer, vol. 14, ss. 857- DOI
  • A Simple Repeat Polymorphism in the MITF-M Promoter Is a Key Regulator of White Spotting in Dogs.

    Baranowska Körberg, I., Sundström, E., Meadows, J., Pielberg, G., Gustafson, U. et al. (2014). PLOS ONE, vol. 9, ss. e104363- DOI
  • Rabbit genome analysis reveals a polygenic basis for phenotypic change during domestication.

    Carneiro, M., Rubin, C., Di Palma, F., Albert, F., Alfoeldi, J. et al. (2014). Science, vol. 345, ss. 1074-1079 DOI
  • Genome-Wide Analysis in German Shepherd Dogs Reveals Association of a Locus on CFA 27 with Atopic Dermatitis.

    Tengvall, K., Kierczak, M., Bergvall, K., Olsson, M., Frankowiack, M. et al. (2013). PLOS Genetics, vol. 9, ss. e1003475- DOI
  • Complex Inheritance of Melanoma and Pigmentation of Coat and Skin in Grey Horses.

    Curik, I., Druml, T., Seltenhammer, M., Sundström, E., Pielberg, G. et al. (2013). PLOS Genetics, vol. 9, ss. e1003248- DOI
  • Thorough investigation of a canine autoinflammatory disease (AID) syndrome confirms one main risk factor and suggests a modifier locus for amyloidosis.

    Olsson, M., Tintle, L., Kierczak, M., Perloski, M., Tonomura, N. et al. (2013). PLOS ONE, vol. 8, ss. e75242- DOI
  • Copy number expansion of the STX17 duplication in melanoma tissue from Grey horses.

    Sundström, E., Imsland, F., Mikko, S., Wade, C., Sigurdsson, S. et al. (2012). BMC Genomics, vol. 13, ss. 365- DOI
  • Identification of genomic regions associated with phenotypic variation between dog breeds using selection mapping.

    Vaysse, A., Ratnakumar, A., Derrien, T., Axelsson, E., Rosengren Pielberg, G. et al. (2011). PLOS Genetics, vol. 7, ss. e1002316- DOI
  • Gene copy number detection in animal studies.

    Pielberg, G., Andersson, L. (2007). Methods in Molecular Biology, vol. 373, ss. 147-156 DOI
  • Frequency and effect of the bovine acyl-CoA: diacylglycerol acyltransferase 1 (DGAT1) K232A polymorphism in Swedish dairy cattle.

    Näslund, J., Fikse, W., Pielberg, G., Lundén, A. (2008). Journal of Dairy Science, vol. 91, ss. 2127-2134 DOI
  • A Novel Unstable Duplication Upstream of HAS2 Predisposes to a Breed-Defining Skin Phenotype and a Periodic Fever Syndrome in Chinese Shar-Pei Dogs.

    Olsson, M., Meadows, J., Truve, K., Pielberg, G., Puppo, F. et al. (2011). PLoS Genetics, vol. 7, ss. e1001332- DOI
  • A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the horse.

    Pielberg, G., Golovko, A., Sundström, E., Curik, I., Lennartsson, J. et al. (2008). Nature Genetics, vol. 40, ss. 1004-1009 DOI
  • Comparative sequence analysis of the PRKAG3 region between human and pig: evolution of repetitive sequences and potential new exons.

    Amarger, V., Erlandsson, R., Pielberg, G., Jeon, J., Andersson, L. (2003). Cytogenetic and Genome Research, vol. 102, ss. 163-172 DOI
  • A sensitive method for detecting variation in copy numbers of duplicatedgenes.

    Pielberg, G., Day, A., Plastow, G., Andersson, L. (2003). Genome Research, vol. 13, ss. 2171-2177 DOI
  • Efficient mapping of mendelian traits in dogs through genome-wide association.

    Karlsson, E., Baranowska, I., Wade, C., Salmon Hillbertz, N., Zody, M. et al. (2007). Nature Genetics, vol. 39, ss. 1321-1328 DOI
  • Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in Ridgeback dogs.

    Salmon Hillbertz, N., Isaksson, M., Karlsson, E., Hellmén, E., Pielberg, G. et al. (2007). Nature Genetics, vol. 39, ss. 1318-1320 DOI
  • Confirmation of QTL on porcine chromosomes 1 and 8 influencing leukocyte numbers, haematological parameters and leukocyte function..

    Wattrang, E., Almqvist, M., Johansson, A., Fossum, C., Wallgren, P. et al. (2005). Anim Genet, vol. 36, ss. 337-45
  • Comparative linkage mapping of the Grey coat colour gene in horses..

    Pielberg, G., Mikko, S., Sandberg, K., Andersson, L. (2005). Anim Genet, vol. 36, ss. 390-5
  • Polymorphism at the porcine Dominant white/KIT locus influence coat colour and peripheral blood cell measures.

    Johansson, A., Pielberg, G., Andersson, L., Edfors-Lilja, I. (2005). Animal Genetics, vol. 36, ss. 288-296 DOI
  • Unexpectedly High Allelic Diversity at the KIT Locus Causing DominantWhite Color in the Domestic Pig.

    Pielberg, G., Olsson, C., Syvänen, A., Andersson, L. (2002). Genetics, vol. 160, ss. 305-311
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