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.

Part of Arthritis & Rheumatology, p. 212-225, 2025

• DOI for Unraveling the Genetics of Shared Clinical and Serological Manifestations in Patients With Systemic Inflammatory Autoimmune Diseases
• Download full text (pdf) of 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.

Part of Nature Communications, 2025

• DOI for Interpreting mammalian synonymous site conservation in light of the unwanted transcript hypothesis
• Download full text (pdf) of 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.

Part of Journal of Autoimmunity, 2024

• DOI for A survey of ficolin-3 activity in Systemic Lupus Erythematosus reveals a link to hematological disease manifestations and autoantibody profile
• Download full text (pdf) of 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.

Part of Acta Veterinaria Scandinavica, 2024

• DOI for In sickness and health - a questionnaire based study regarding immune mediated diseases and neoplasia in Swedish Nova Scotia Duck Tolling Retrievers
• Download full text (pdf) of 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.

Part of Scientific Reports, 2024

• DOI for Elevated levels of IL-12/IL-23p40 in Nova Scotia Duck Tolling Retrievers with autoimmune disease and lymphoma
• Download full text (pdf) of Elevated levels of IL-12/IL-23p40 in Nova Scotia Duck Tolling Retrievers with autoimmune disease and lymphoma

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.

Part of Arthritis & Rheumatology, p. 212-225, 2025

• DOI for Unraveling the Genetics of Shared Clinical and Serological Manifestations in Patients With Systemic Inflammatory Autoimmune Diseases
• Download full text (pdf) of 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.

Part of Nature Communications, 2025

• DOI for Interpreting mammalian synonymous site conservation in light of the unwanted transcript hypothesis
• Download full text (pdf) of 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.

Part of Journal of Autoimmunity, 2024

• DOI for A survey of ficolin-3 activity in Systemic Lupus Erythematosus reveals a link to hematological disease manifestations and autoantibody profile
• Download full text (pdf) of 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.

Part of Acta Veterinaria Scandinavica, 2024

• DOI for In sickness and health - a questionnaire based study regarding immune mediated diseases and neoplasia in Swedish Nova Scotia Duck Tolling Retrievers
• Download full text (pdf) of 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.

Part of Scientific Reports, 2024

• DOI for Elevated levels of IL-12/IL-23p40 in Nova Scotia Duck Tolling Retrievers with autoimmune disease and lymphoma
• Download full text (pdf) of Elevated levels of IL-12/IL-23p40 in Nova Scotia Duck Tolling Retrievers with autoimmune disease and lymphoma

Using evolutionary constraint to define novel candidate driver genes in medulloblastoma

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

Part of Proceedings of the National Academy of Sciences of the United States of America, 2023

• DOI for Using evolutionary constraint to define novel candidate driver genes in medulloblastoma
• Download full text (pdf) of Using evolutionary constraint to define novel candidate driver genes in medulloblastoma

Evolutionary constraint and innovation across hundreds of placental mammals

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

Part of Science, 2023

• DOI for 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.

Part of Rheumatology, p. 3461-3470, 2022

• DOI for Identification and Functional Characterization of a Novel Susceptibility Locus for Small Vessel Vasculitis with MPO-ANCA
• Download full text (pdf) of Identification and Functional Characterization of a Novel Susceptibility Locus for Small Vessel Vasculitis with MPO-ANCA

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.

Part of Lupus Science and Medicine, 2022

• DOI for Mer-tyrosine kinase: a novel susceptibility gene for SLE related end-stage renal disease
• Download full text (pdf) of Mer-tyrosine kinase: a novel susceptibility gene for SLE related end-stage renal disease

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.

Part of Arthritis & Rheumatology, p. 342-352, 2022

• DOI for Contribution of rare genetic variation to disease susceptibility in a large Scandinavian myositis cohort
• Download full text (pdf) of Contribution of rare genetic variation to disease susceptibility in a large Scandinavian myositis cohort

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.

Part of Arthritis & Rheumatology, p. 1440-1450, 2022

• DOI for Complement C4 Copy Number Variation is Linked to SSA/Ro and SSB/La Autoantibodies in Systemic Inflammatory Autoimmune Diseases
• Download full text (pdf) of Complement C4 Copy Number Variation is Linked to SSA/Ro and SSB/La Autoantibodies in Systemic Inflammatory Autoimmune Diseases

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.

Part of Annals of the Rheumatic Diseases, p. 109-117, 2021

• DOI for Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing
• Download full text (pdf) of Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing

Toll-like receptors revisited: a possible role for TLR1 in lupus nephritis

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

Part of Annals of the Rheumatic Diseases, p. 404-406, 2021

• DOI for Toll-like receptors revisited: a possible role for TLR1 in lupus nephritis
• Download full text (pdf) of Toll-like receptors revisited: a possible role for TLR1 in lupus nephritis

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.

Part of Rheumatology, p. 918-919, 2019

• DOI for 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.

Part of European Journal of Human Genetics, p. 432-441, 2019

• DOI for A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts
• Download full text (pdf) of A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts

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.

Part of 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.

Part of Scientific Reports, 2018

• DOI for Whole Exome Sequencing of Patients from Multicase Families with Systemic Lupus Erythematosus Identifies Multiple Rare Variants
• Download full text (pdf) of Whole Exome Sequencing of Patients from Multicase Families with Systemic Lupus Erythematosus Identifies Multiple Rare Variants

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.

Part of BMC Genetics, 2016

• DOI for 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
• Download full text (pdf) of 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

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.

Part of Proceedings of the National Academy of Sciences of the United States of America, 2016

• DOI for 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.

Part of PLOS Genetics, 2015

• DOI for Multiple Changes of Gene Expression and Function Reveal Genomic and Phenotypic Complexity in SLE-like Disease
• Download full text (pdf) of Multiple Changes of Gene Expression and Function Reveal Genomic and Phenotypic Complexity in SLE-like Disease

BANK1 transgenic mice exhibit lupus-associated B cell phenotypes

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

Part of 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.

Part of 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.

Part of Genes and Immunity, p. 268-274, 2012

• DOI for 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.

Part of Annals of the Rheumatic Diseases, p. 136-142, 2012

• DOI for 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.

Part of Annals of the Rheumatic Diseases, p. 1219-1226, 2012

• DOI for 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.

Part of Genes and Immunity, p. 129-138, 2012

• DOI for 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.

Part of Journal of Rheumatology, p. 574-578, 2010

• DOI for 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.

Part of Annals of the Rheumatic Diseases, p. 1746-1753, 2009

• DOI for 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.

Part of Autoimmunity, p. 591-601, 2007

• DOI for 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.

Part of Genes and Immunity, p. 69-74, 2007

• DOI for 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.

Part of Arthritis Research & Therapy, 2010

• DOI for 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

Part of Hereditary Basis of Rheumatic Diseases, p. 79-85, Birkhäuser, 2006