Associated Papers
SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies.
Sevdali E et al.
Journal of Immunology Research, 2017
The New Immortalized Uroepithelial Cell Line HBLAK Contains Defined Genetic Aberrations Typical of Early Stage Urothelial Tumors.
Hoffmann MJ et al.
Bladder Cancer (amsterdam, Netherlands), 2016
28035326 (PubMed )
Supplement: blc-2-blc160065-s001.xlsx › 2_HBLAK_relevant_SNPs
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A0AD-01A.domain
Associations of genetic polymorphisms of Siglecs with human diseases.
Angata T
Glycobiology, 2014
A missense single-nucleotide polymorphism in the sialic acid acetylesterase (SIAE) gene is associated with anti-PIT-1 antibody syndrome.
Yamamoto M et al.
Endocrine Journal, 2014
Gene-function studies in systemic lupus erythematosus.
Crispín JC et al.
Nature Reviews. Rheumatology, 2013
M89V Sialic acid Acetyl Esterase (SIAE) and all other non-synonymous common variants of this gene are catalytically normal.
Chellappa V et al.
Plos One, 2013
The role of functionally defective rare germline variants of sialic acid acetylesterase in autoimmune Addison's disease.
Gan EH et al.
European Journal of Endocrinology, 2012
Association of primary biliary cirrhosis with variants in the CLEC16A, SOCS1, SPIB and SIAE immunomodulatory genes.
Hirschfield GM et al.
Genes and Immunity, 2012
Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry.
Hunt KA et al.
Nature Genetics, 2011
Functionally defective germline variant of sialic acid acetylesterase (Met89Val) is not associated with type 1 diabetes mellitus and Graves' disease in a Polish population.
Szymański K et al.
Tissue Antigens, 2011
Functionally defective germline variants of sialic acid acetylesterase in autoimmunity.
Surolia I et al.
Nature, 2010
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