Search Results - "Cudini, Annamaria"
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Advances in Immunotherapeutic Approaches to Type 1 Diabetes
Published in International journal of molecular sciences (25-05-2023)“…Type 1 diabetes mellitus (T1D) is a multifactorial autoimmune disease characterized by the selective destruction of pancreatic insulin-producing beta cells due…”
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Analysis of the AIRE Gene Promoter in Patients Affected by Autoimmune Polyendocrine Syndromes
Published in International journal of molecular sciences (24-02-2024)“…Autoimmune polyglandular syndromes (APS) are classified into four main categories, APS1-APS4. APS1 is caused by gene loss of function mutations, while the…”
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Analysis of a series of Italian APECED patients with autoimmune hepatitis and gastro-enteropathies
Published in Frontiers in immunology (30-06-2023)“…Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome is a rare monogenic disease determined by biallelic mutations in gene, which…”
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Analysis of the IAIRE/I Gene Promoter in Patients Affected by Autoimmune Polyendocrine Syndromes
Published in International journal of molecular sciences (01-02-2024)“…Autoimmune polyglandular syndromes (APS) are classified into four main categories, APS1–APS4. APS1 is caused by AIRE gene loss of function mutations, while the…”
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The Putative Role of TIM-3 Variants in Polyendocrine Autoimmunity: Insights from a WES Investigation
Published in International journal of molecular sciences (12-10-2024)“…Autoimmune polyglandular syndrome (APS) comprises a complex association of autoimmune pathological conditions. APS Type 1 originates from loss-of-function…”
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1465-P: The C1858T Polymorphism in PTPN22 Modulates the Human Pancreatic Islet Transcriptome
Published in Diabetes (New York, N.Y.) (01-06-2024)“…Introduction & Objective: PTPN22 encodes for a lymphoid-specific intracellular phosphatase involved in T-cell receptor signaling. The C1858T PTPN22…”
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