Sergey Kozyrev

Unraveling the Genetics of Shared Clinical and Serological Manifestations in Patients With Systemic Inflammatory Autoimmune Diseases

Bianchi, Matteo; Kozyrev, Sergey V.; Notarnicola, Antonella; Sandling, Johanna K. et al.

Ingår i Arthritis & Rheumatology, s. 212-225, 2025

• DOI för Unraveling the Genetics of Shared Clinical and Serological Manifestations in Patients With Systemic Inflammatory Autoimmune Diseases
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Interpreting mammalian synonymous site conservation in light of the unwanted transcript hypothesis

Christmas, Matthew; Dong, Michael X.; Meadows, Jennifer R. S.; Kozyrev, Sergey V. et al.

Ingår i Nature Communications, 2025

• DOI för Interpreting mammalian synonymous site conservation in light of the unwanted transcript hypothesis
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A survey of ficolin-3 activity in Systemic Lupus Erythematosus reveals a link to hematological disease manifestations and autoantibody profile

Lindelöf, Linnea; Rantapää-Dahlqvist, Solbritt; Lundtoft, Christian; Sandling, Johanna K. et al.

Ingår i Journal of Autoimmunity, 2024

• DOI för A survey of ficolin-3 activity in Systemic Lupus Erythematosus reveals a link to hematological disease manifestations and autoantibody profile
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In sickness and health - a questionnaire based study regarding immune mediated diseases and neoplasia in Swedish Nova Scotia Duck Tolling Retrievers

Nilsson, Malin; Kozyrev, Sergey V.; Lindblad-Toh, Kerstin; Roennberg, Henrik et al.

Ingår i Acta Veterinaria Scandinavica, 2024

• DOI för In sickness and health - a questionnaire based study regarding immune mediated diseases and neoplasia in Swedish Nova Scotia Duck Tolling Retrievers
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Elevated levels of IL-12/IL-23p40 in Nova Scotia Duck Tolling Retrievers with autoimmune disease and lymphoma

Nilsson, Malin; Kozyrev, Sergey V.; Saellstrom, Sara; Johansson, Siri et al.

Ingår i Scientific Reports, 2024

• DOI för Elevated levels of IL-12/IL-23p40 in Nova Scotia Duck Tolling Retrievers with autoimmune disease and lymphoma
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Unraveling the Genetics of Shared Clinical and Serological Manifestations in Patients With Systemic Inflammatory Autoimmune Diseases

Bianchi, Matteo; Kozyrev, Sergey V.; Notarnicola, Antonella; Sandling, Johanna K. et al.

Ingår i Arthritis & Rheumatology, s. 212-225, 2025

• DOI för Unraveling the Genetics of Shared Clinical and Serological Manifestations in Patients With Systemic Inflammatory Autoimmune Diseases
• Ladda ner fulltext (pdf) av Unraveling the Genetics of Shared Clinical and Serological Manifestations in Patients With Systemic Inflammatory Autoimmune Diseases

Interpreting mammalian synonymous site conservation in light of the unwanted transcript hypothesis

Christmas, Matthew; Dong, Michael X.; Meadows, Jennifer R. S.; Kozyrev, Sergey V. et al.

Ingår i Nature Communications, 2025

• DOI för Interpreting mammalian synonymous site conservation in light of the unwanted transcript hypothesis
• Ladda ner fulltext (pdf) av Interpreting mammalian synonymous site conservation in light of the unwanted transcript hypothesis

A survey of ficolin-3 activity in Systemic Lupus Erythematosus reveals a link to hematological disease manifestations and autoantibody profile

Lindelöf, Linnea; Rantapää-Dahlqvist, Solbritt; Lundtoft, Christian; Sandling, Johanna K. et al.

Ingår i Journal of Autoimmunity, 2024

• DOI för A survey of ficolin-3 activity in Systemic Lupus Erythematosus reveals a link to hematological disease manifestations and autoantibody profile
• Ladda ner fulltext (pdf) av A survey of ficolin-3 activity in Systemic Lupus Erythematosus reveals a link to hematological disease manifestations and autoantibody profile

In sickness and health - a questionnaire based study regarding immune mediated diseases and neoplasia in Swedish Nova Scotia Duck Tolling Retrievers

Nilsson, Malin; Kozyrev, Sergey V.; Lindblad-Toh, Kerstin; Roennberg, Henrik et al.

Ingår i Acta Veterinaria Scandinavica, 2024

• DOI för In sickness and health - a questionnaire based study regarding immune mediated diseases and neoplasia in Swedish Nova Scotia Duck Tolling Retrievers
• Ladda ner fulltext (pdf) av In sickness and health - a questionnaire based study regarding immune mediated diseases and neoplasia in Swedish Nova Scotia Duck Tolling Retrievers

Elevated levels of IL-12/IL-23p40 in Nova Scotia Duck Tolling Retrievers with autoimmune disease and lymphoma

Nilsson, Malin; Kozyrev, Sergey V.; Saellstrom, Sara; Johansson, Siri et al.

Ingår i Scientific Reports, 2024

• DOI för Elevated levels of IL-12/IL-23p40 in Nova Scotia Duck Tolling Retrievers with autoimmune disease and lymphoma
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Using evolutionary constraint to define novel candidate driver genes in medulloblastoma

Roy, Ananya; Sakthikumar, Sharadha; Kozyrev, Sergey V.; Nordin, Jessika et al.

Ingår i Proceedings of the National Academy of Sciences of the United States of America, 2023

• DOI för Using evolutionary constraint to define novel candidate driver genes in medulloblastoma
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Evolutionary constraint and innovation across hundreds of placental mammals

Christmas, Matthew; Kaplow, Irene M.; Genereux, Diane P.; Dong, Michael X. et al.

Ingår i Science, 2023

• DOI för Evolutionary constraint and innovation across hundreds of placental mammals

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

Dahlqvist, Johanna; Ekman, Diana; Sennblad, Bengt; Kozyrev, Sergey V. et al.

Ingår i Rheumatology, s. 3461-3470, 2022

• DOI för Identification and Functional Characterization of a Novel Susceptibility Locus for Small Vessel Vasculitis with MPO-ANCA
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Mer-tyrosine kinase: a novel susceptibility gene for SLE related end-stage renal disease

Yavuz, Sule; Pucholt, Pascal; Sandling, Johanna K.; Bianchi, Matteo et al.

Ingår i Lupus Science and Medicine, 2022

• DOI för Mer-tyrosine kinase: a novel susceptibility gene for SLE related end-stage renal disease
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Contribution of rare genetic variation to disease susceptibility in a large Scandinavian myositis cohort

Bianchi, Matteo; Kozyrev, Sergey V.; Notarnicola, Antonella; Hultin-Rosenberg, Lina et al.

Ingår i Arthritis & Rheumatology, s. 342-352, 2022

• DOI för Contribution of rare genetic variation to disease susceptibility in a large Scandinavian myositis cohort
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Complement C4 Copy Number Variation is Linked to SSA/Ro and SSB/La Autoantibodies in Systemic Inflammatory Autoimmune Diseases

Lundtoft, Christian; Pucholt, Pascal; Martin, Myriam; Bianchi, Matteo et al.

Ingår i Arthritis & Rheumatology, s. 1440-1450, 2022

• DOI för Complement C4 Copy Number Variation is Linked to SSA/Ro and SSB/La Autoantibodies in Systemic Inflammatory Autoimmune Diseases
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Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing

Sandling, Johanna K.; Pucholt, Pascal; Hultin-Rosenberg, Lina; Farias, Fabiana H. G. et al.

Ingår i Annals of the Rheumatic Diseases, s. 109-117, 2021

• DOI för Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing
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Toll-like receptors revisited: a possible role for TLR1 in lupus nephritis

Yavuz, Sule; Bianchi, Matteo; Kozyrev, Sergey; Bolin, Karin et al.

Ingår i Annals of the Rheumatic Diseases, s. 404-406, 2021

• DOI för Toll-like receptors revisited: a possible role for TLR1 in lupus nephritis
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A case of systemic lupus erythematosus with C1q deficiency, increased serum interferon-a levels and high serum interferogenic activity

Bolin, Karin; Eloranta, Maija-Leena; Kozyrev, Sergey V.; Dahlqvist, Johanna et al.

Ingår i Rheumatology, s. 918-919, 2019

• DOI för A case of systemic lupus erythematosus with C1q deficiency, increased serum interferon-a levels and high serum interferogenic activity

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, Fabiana H. G.; Dahlqvist, Johanna; Kozyrev, Sergey V.; Leonard, Dag et al.

Ingår i European Journal of Human Genetics, s. 432-441, 2019

• DOI för A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts
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The risk allele A of rs200395694 associated with SLE in Swedish patients affects on MEF2D gene regulation and alternative splicing

Abramov, Sergei; Kozyrev, Sergey V.; Farias, Fabiana H. G.; Dahlqvist, Johanna et al.

Ingår i Human Gene Therapy, 2018

Whole Exome Sequencing of Patients from Multicase Families with Systemic Lupus Erythematosus Identifies Multiple Rare Variants

Delgado-Vega, Angélica M.; Martinez-Bueno, Manuel; Oparina, Nina Y.; Herraez, David Lopez et al.

Ingår i Scientific Reports, 2018

• DOI för Whole Exome Sequencing of Patients from Multicase Families with Systemic Lupus Erythematosus Identifies Multiple Rare Variants
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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, Katarina; Kozyrev, Sergey; Kierczak, Marcin; Bergvall, Kerstin et al.

Ingår i BMC Genetics, 2016

• DOI för 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
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Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy

Ivansson, Emma L.; Megquier, Kate; Kozyrev, Sergey V.; Murén, Eva et al.

Ingår i Proceedings of the National Academy of Sciences of the United States of America, 2016

• DOI för Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy

Multiple Changes of Gene Expression and Function Reveal Genomic and Phenotypic Complexity in SLE-like Disease

Wilbe, Maria; Kozyrev, Sergey V.; Farias, Fabiana H. G.; Bremer, Hanna D. et al.

Ingår i PLOS Genetics, 2015

• DOI för Multiple Changes of Gene Expression and Function Reveal Genomic and Phenotypic Complexity in SLE-like Disease
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BANK1 transgenic mice exhibit lupus-associated B cell phenotypes

Pathak, Simanta; Guo, Yuyuan; Ding, Huihua; Du, Yong et al.

Ingår i Journal of Immunology, 2015

High-Throughput Sequencing of 219 Candidate Genes for Identification of SLE-Associated Risk Variants

Farias, Fabiana; Wilbe, Maria; Dahlqvist, Johanna; Leonard, Dag et al.

Ingår i Arthritis & Rheumatology, 2014

Genetic association of miRNA-146a with systemic lupus erythematosus in Europeans through decreased expression of the gene

Löfgren, Sara E; Frostegård, Johan; Truedsson, Lennart; Pons-Estel, Bernardo A et al.

Ingår i Genes and Immunity, s. 268-274, 2012

• DOI för Genetic association of miRNA-146a with systemic lupus erythematosus in Europeans through decreased expression of the gene

Genetic and physical interaction of the B-cell systemic lupus erythematosus-associated genes BANK1 and BLK

Castillejo-Lopez, Casimiro; Delgado-Vega, Angélica M.; Wojcik, Jerome; Kozyrev, Sergey V. et al.

Ingår i Annals of the Rheumatic Diseases, s. 136-142, 2012

• DOI för Genetic and physical interaction of the B-cell systemic lupus erythematosus-associated genes BANK1 and BLK

Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein

Delgado-Vega, Angélica M.; Dozmorov, Mikhail G.; Bernal Quiros, Manuel; Wu, Ying-Yu et al.

Ingår i Annals of the Rheumatic Diseases, s. 1219-1226, 2012

• DOI för Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein

The dual effect of the lupus-associated polymorphism rs10516487 on BANK1 gene expression and protein localization

Kozyrev, Sergey V.; Bernal-Quiros, M.; Alarcon-Riquelme, M. E.; Castillejo-Lopez, C.

Ingår i Genes and Immunity, s. 129-138, 2012

• DOI för The dual effect of the lupus-associated polymorphism rs10516487 on BANK1 gene expression and protein localization

Promoter Insertion/Deletion in the IRF5 Gene Is Highly Associated with Susceptibility to Systemic Lupus Erythematosus in Distinct Populations, But Exerts a Modest Effect on Gene Expression in Peripheral Blood Mononuclear Cells

Löfgren, Sara E.; Yin, Hong; Delgado-Vega, Angelica M.; Sanchez, Elena et al.

Ingår i Journal of Rheumatology, s. 574-578, 2010

• DOI för Promoter Insertion/Deletion in the IRF5 Gene Is Highly Associated with Susceptibility to Systemic Lupus Erythematosus in Distinct Populations, But Exerts a Modest Effect on Gene Expression in Peripheral Blood Mononuclear Cells

STAT4 Associates with SLE through two independent effects that correlate with gene expression and act additively with IRF5 to increase risk

Abelson, Anna-Karin; Delgado-Vega, Angélica Maria; Kozyrev, Sergey V.; Sánchez, Elena et al.

Ingår i Annals of the Rheumatic Diseases, s. 1746-1753, 2009

• DOI för STAT4 Associates with SLE through two independent effects that correlate with gene expression and act additively with IRF5 to increase risk

The genetics and biology of Irf5-mediated signaling in lupus

Kozyrev, Sergey V.; Alarcon-Riquelme, Marta E.

Ingår i Autoimmunity, s. 591-601, 2007

• DOI för The genetics and biology of Irf5-mediated signaling in lupus

No evidence of association between genetic variants of the PDCD1 ligands and SLE

Abelson, Anna-Karin; Johansson, Cecilia M.; Kozyrev, Sergey V.; Kristjansdottir, Helga et al.

Ingår i Genes and Immunity, s. 69-74, 2007

• DOI för No evidence of association between genetic variants of the PDCD1 ligands and SLE

Genetic associations in type I interferon related pathways with autoimmunity

Delgado-Vega, Angelica M.; Alarcón-Riquelme, Marta E.; Kozyrev, Sergey V.

Ingår i Arthritis Research & Therapy, 2010

• DOI för Genetic associations in type I interferon related pathways with autoimmunity

Shared genes in rheumatic diseases: The role of PDCD1 and RUNX genes in disease susceptibility

Alarcon-Riquelme, Marta E.; Kozyrev, Sergey

Ingår i Hereditary Basis of Rheumatic Diseases, s. 79-85, Birkhäuser, 2006