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Significant Association Between Genetic Polymorphism of Insulin-Like Growth Factor-2 mRNA Binding Protein-2 and Type 2 Diabetes Mellitus: A Population-Based Case-Control Study.
J Clin Lab Anal
January 2025
Medical Laboratory Specialist- Clinical Chemistry Lab -King Fahd Specialist Hospital, Tabuk, Kingdom of Saudi Arabia, Saudi Arabia.
Objectives: To determine the association between IGF2BP2 polymorphisms and type 2 diabetes mellitus.
Methods: This study involved 422 individuals, 214 diabetes mellitus cases, and 208 healthy controls. The PCR-RFLP technique was used to determine the genotype of the IGF2BP2 gene for the SNPs rs4402960 (G>T) and rs1470579 (A>C).
IgLON5 autoimmunity secondary to immune checkpoint inhibitor.
J Neuroimmunol
December 2024
Department of Neurology, Mayo Clinic, Rochester, MN, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA; Center for Multiple Sclerosis and Autoimmune Neurology, Mayo Clinic, Rochester, MN, USA. Electronic address:
IgLON5 autoimmunity is characterized by a diverse range of clinical presentations, including neuropsychiatric symptoms, sleep disturbances, gait instability, and bulbar symptoms, that are usually insidiously progressive. While some individuals with specific HLA haplotypes may be more susceptible to developing anti-IgLON5 disease, this antibody is typically not associated with a paraneoplastic etiology nor known to be induced by immune checkpoint inhibitors (ICI). We present a clinical and serological workup of a patient who developed symptoms of IgLON5 autoimmunity following treatment with pembrolizumab.
View Article and Find Full Text PDF[Amino Acid Substitution Patterns in the E6 and E7 Proteins of HPV Type 16: Phylogeography and Evolution].
Mol Biol (Mosk)
December 2024
Peoples' Friendship University of Russia, Moscow, 117198 Russia.
The E6 and E7 proteins of the high risk human papillomaviruses (HR HPVs) play a key role in the oncogenesis associated with papillomavirus infection. Data on the variability of these proteins are limited, and the factors affecting their variability are still poorly understood. We analyzed the variability of the currently known sequences of the HPV type 16 (HPV16) E6 and E7 proteins, taking into account their geographic origin and year of sample collection, as well as the direction of their evolution in the major geographic regions of the world.
View Article and Find Full Text PDFCharacteristics of autoantibody-positive individuals without high-risk HLA-DR4-DQ8 or HLA-DR3-DQ2 haplotypes.
Diabetologia
December 2024
University of Miami Miller School of Medicine, University of Miami, Miami, FL, USA.
Aims/hypothesis: Many studies of type 1 diabetes pathogenesis focus on individuals with high-risk HLA haplotypes. We tested the hypothesis that, among islet autoantibody-positive individuals, lacking HLA-DRB1*04-DQA1*03-DQB1*0302 (HLA-DR4-DQ8) and/or HLA-DRB1*0301-DQA1*0501-DQB1*0201 (HLA-DR3-DQ2) is associated with phenotypic differences, compared with those who have these high-risk HLA haplotypes.
Methods: We classified autoantibody-positive relatives of individuals with type 1 diabetes into four groups based on having both HLA-DR4-DQ8 and HLA-DR3-DQ2 (DR3/DR4; n=1263), HLA-DR4-DQ8 but not HLA-DR3-DQ2 (DR4/non-DR3; n=2340), HLA-DR3-DQ2 but not HLA-DR4-DQ8 (DR3/non-DR4; n=1607) and neither HLA-DR3-DQ2 nor HLA-DR4-DQ8 (DRX/DRX; n=1294).
Genetic Discovery and Risk Prediction for Type 1 Diabetes in Individuals Without High-Risk HLA-DR3/DR4 Haplotypes.
Diabetes Care
December 2024
Department of Pediatrics, University of California, San Diego, La Jolla, CA.
Article Synopsis
- The study investigates type 1 diabetes (T1D) in patients without high-risk HLA-DR3 or -DR4 haplotypes, identifying genetic factors and improving risk prediction for this group.
- Researchers analyzed data from 12,316 non-DR3/DR4 individuals, discovering 18 T1D risk variants that affect disease development differently based on HLA status and showing a greater polygenic burden for non-DR3/DR4 patients.
- A newly developed genetic risk score (GRS) significantly outperformed existing scores in predicting T1D for those without DR3/DR4, highlighting the need for tailored approaches in understanding and predicting the disease.
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