Associated Papers
Genome-wide association study in chondrocalcinosis reveals ENPP1 as a candidate therapeutic target in calcium pyrophosphate deposition disease.
Takei R et al.
Annals of the Rheumatic Diseases, 2025
ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.
Enyedi EE et al.
Biomedicines, 2024
38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf
Molecular characterization of the craniosynostosis-associated interleukin-11 receptor variants p.T306_S308dup and p.E364_V368del.
Kespohl B et al.
The Febs Journal, 2024
Genetics implicates overactive osteogenesis in the development of diffuse idiopathic skeletal hyperostosis.
Sethi A et al.
Nature Communications, 2023
Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19.
Monticelli M et al.
European Journal of Medical Genetics, 2021
33872774 (PubMed )
Supplement: mmc2.xlsx › Foglio1
Revisiting the Population Genetics of Human Height.
Rotwein P
Journal of the Endocrine Society, 2020
Structural Understanding of Interleukin 6 Family Cytokine Signaling and Targeted Therapies: Focus on Interleukin 11.
Metcalfe RD et al.
Frontiers in Immunology, 2020
Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis.
Styrkarsdottir U et al.
Nature Genetics, 2018
The SNP rs4252548 (R112H) which is associated with reduced human height compromises the stability of IL-11.
Lokau J et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2018
A polymorphism in the IL11 gene is associated with ulcerative colitis.
Klein W et al.
Genes and Immunity, 2002
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