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diabetes, mellitus, insulin-dependent, susceptibility to
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CTLA4
Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4
Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations
Early-onset Crohn's disease and autoimmunity associated with a variant in CTLA-4
Abatacept alleviates severe autoimmune symptoms in a patient carrying a de novo variant in CTLA-4
The blockade of immune checkpoints in cancer immunotherapy
ENPP1
The good and the bad in the link between insulin resistance and vascular calcification
Plasma cell membrane glycoprotein PC-1. cDNA cloning of the human molecule, amino acid sequence, and chromosomal location
Autophosphorylation of PC-1 (alkaline phosphodiesterase I/nucleotide pyrophosphatase) and analysis of the active site
CDKAL1
Association of CDKAL1, IGF2BP2, CDKN2A/B, HHEX, SLC30A8, and KCNJ11 with susceptibility to type 2 diabetes in a Japanese population
HMGA1
Regulation of cell-type-specific interleukin-2 receptor alpha-chain gene expression: potential role of physical interactions between Elf-1, HMG-I(Y), and NF-kappa B family proteins
HIV-1 cDNA integration: requirement of HMG I(Y) protein for function of preintegration complexes in vitro
Human immunodeficiency virus type 1 preintegration complexes: studies of organization and composition
IGF2BP2
A novel cytoplasmic protein with RNA-binding motifs is an autoantigen in human hepatocellular carcinoma
RETN
Human Resistin Is a Systemic Immune-Derived Proinflammatory Cytokine Targeting both Leukocytes and Adipocytes
Resistin and adiponectin expression in visceral fat of obese rats: effect of weight loss
Human resistin stimulates the pro-inflammatory cytokines TNF-alpha and IL-12 in macrophages by NF-kappaB-dependent pathway
Resistin promotes endothelial cell activation: further evidence of adipokine-endothelial interaction
Lipopolysaccharide increases resistin gene expression in vivo and in vitro
SLC30A8
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.
Insulin storage and glucose homeostasis in mice null for the granule zinc transporter ZnT8 and studies of the type 2 diabetes������associated variants.
IL2RA
Localization of the gene encoding the human interleukin-2 receptor on chromosome 10
Cancer Gene Census
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HMGA1
Somatic tumors
microfollicular thyroid adenoma, various benign mesenchymal tumours
Tumor types germline
Cancer Syndrom
Translocation partner
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Name
high mobility group AT-hook 1
Chromosome banding
6p21
Cancer molecular gen.
Dom
Mutation type
T
Other syndrome disease
Definition
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Pathways
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Jak-STAT signaling pathway
Homo sapiens (human)
one gene
Clinical Trials
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External
Nivolumab and Ipilimumab Treatment in Prostate Cancer With an Immunogenic Signature
Nivolumab in Recurrent or Metastatic Salivary Gland Carcinoma of the Head and Neck (NISCAHN)
Standard Chemotherapy vs Immunotherapie in 2nd Line Treatment of MSI Colorectal Mestastatic Cancer (SAMCO)
Pembrolizumab (Anti-PD-1) and AMG386 (Angiopoietin-2 (Ang-2) in Patients With Advanced Solid Tumor
Feasibility Study of Induction and Maintenance Avelumab Plus R-CHOP in Patients With Diffuse DLBCL: The AvR-CHOP Study (AvR-CHOP)
Nivolumab Plus Rituximab in First-line Follicular Lymphoma gr 1-3A (1stFLOR)
Nivolumab in Combination With Chemotherapy, or Nivolumab in Combination With Ipilimumab, in Advanced EGFR-Mutant or ALK-Rearranged NSCLC
Clinical Trial of Neoadjuvant Chemotherapy With Atezolizumab or Placebo in Patients With Triple-Negative Breast Cancer Followed After Surgery by Atezolizumab or Placebo