Novel missense mutation in PTPN22 in a Chinese pedigree with Hashimoto's thyroiditis

Novel missense mutation in PTPN22 in a Chinese pedigree with Hashimoto's thyroiditis is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1186/S12902-018-0305-8
P932PMC publication ID6211547
P698PubMed publication ID30384852

P2093author name stringPing Yang
Jing Wang
Hong Pan
Siyang Zhang
Binbin Wang
Jinyi Wu
Licheng Gong
Beihong Liu
Anhui Qi
P2860cites workThe regulatory T cell gene FOXP3 and genetic susceptibility to thyroid autoimmunity: an association analysis in Caucasian and Japanese cohorts.Q51757534
Association of functional polymorphisms related to the transcriptional level of FOXP3 with prognosis of autoimmune thyroid diseasesQ53295920
Functional SNPs in the SCGB3A2 promoter are associated with susceptibility to Graves' disease.Q54500126
PTPN22 R620W polymorphism in the ANCA-associated vasculitidesQ58885872
The spectrum of thyroid disease in a community: the Whickham surveyQ67052046
Association of PTPN22 haplotypes with Graves' diseaseQ79407766
Intramolecular regulation of protein tyrosine phosphatase SH-PTP1: a new function for Src homology 2 domainsQ24306503
A functional variant in FCRL3, encoding Fc receptor-like 3, is associated with rheumatoid arthritis and several autoimmunitiesQ24537702
Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4Q24538382
Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variantsQ24646663
The CD40, CTLA-4, thyroglobulin, TSH receptor, and PTPN22 gene quintet and its contribution to thyroid autoimmunity: back to the futureQ24673258
A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetesQ28248848
Protein tyrosine phosphatases in the human genomeQ28265924
A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritisQ28267921
Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE.Q28273794
Cooperative inhibition of T-cell antigen receptor signaling by a complex between a kinase and a phosphataseQ30175917
Common and unique susceptibility loci in Graves and Hashimoto diseases: results of whole-genome screening in a data set of 102 multiplex familiesQ33188524
Epidemiology and estimated population burden of selected autoimmune diseases in the United StatesQ33500191
Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes.Q33942125
Genetic-epigenetic dysregulation of thymic TSH receptor gene expression triggers thyroid autoimmunityQ34120193
Immune disorders in Hashimoto's thyroiditis: what do we know so far?Q34477452
PTPN22 association in systemic lupus erythematosus (SLE) with respect to individual ancestry and clinical sub-phenotypesQ34946314
Regulation of lymphoid tyrosine phosphatase activity: inhibition of the catalytic domain by the proximal interdomainQ35041312
Association of PTPN22 1858T/T genotype with type 1 diabetes, Graves' disease but not with rheumatoid arthritis in Russian population.Q35052064
Association between the PTPN22 +1858 C/T polymorphism and psoriatic arthritisQ35092932
Searching for the autoimmune thyroid disease susceptibility genes: from gene mapping to gene functionQ35564930
Protein tyrosine phosphatases in T cell physiology.Q35818873
Immunogenetics of autoimmune thyroid diseases: A comprehensive reviewQ36236762
Autoimmune thyroid disordersQ38280726
Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosisQ38367681
A genome-wide association study identifies two new risk loci for Graves' disease.Q39671701
Risk factors for and prevalence of thyroid disorders in a cross-sectional study among healthy female relatives of patients with autoimmune thyroid diseaseQ40568360
Clinical associations of the genetic variants of CTLA-4, Tg, TSHR, PTPN22, PTPN12 and FCRL3 in patients with Graves' diseaseQ42171148
Confirmation of association of chromosome 5q31-33 with United Kingdom Caucasian Graves' disease.Q43530520
Variants in PTPN22 and SMOC2 genes and the risk of thyroid disease in the Jordanian Arab populationQ44532167
The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves' diseaseQ45142894
Association analysis of the 1858C>T polymorphism in the PTPN22 gene in juvenile idiopathic arthritis and other autoimmune diseasesQ46368513
The codon 620 single nucleotide polymorphism of the protein tyrosine phosphatase-22 gene does not contribute to autoimmune thyroid disease susceptibility in the JapaneseQ46798186
Sex-specific association of PTPN22 1858T with type 1 diabetes but not with Hashimoto's thyroiditis or Addison's disease in the German populationQ46831303
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue1
P407language of work or nameEnglishQ1860
P304page(s)76
P577publication date2018-11-01
P1433published inBMC Endocrine DisordersQ4835945
P1476titleNovel missense mutation in PTPN22 in a Chinese pedigree with Hashimoto's thyroiditis
P478volume18

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cites work (P2860)
Q92826070Genome-Wide SNPs and InDels Characteristics of Three Chinese Cattle Breeds
Q89598499Proposing BCG Vaccination for Mycobacterium avium ss. paratuberculosis (MAP) Associated Autoimmune Diseases

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