Common variants of the TCF7L2 gene are associated with increased risk of type 2 diabetes mellitus in a UK-resident South Asian population [PDF]
Background Recent studies have implicated variants of the transcription factor 7-like 2 (TCF7L2) gene in genetic susceptibility to type 2 diabetes mellitus in several different populations. The aim of this study was to determine whether variants of this
Barnett Anthony H +28 more
core +2 more sources
ABSTRACT Objective Neuromyelitis optica spectrum disorder (NMOSD) is a devastating neurological disease that lacks serological biomarkers that can accurately reflect disease activity. We established a live cell‐based assay (LCBA) using serum with endogenous complement to quantify the overall cytotoxicity, offering a novel functional tool for monitoring
Xiaona Xu +10 more
wiley +1 more source
Insulin gene polymorphisms in type I diabetes, Addison's disease and the polyglandular autoimmune syndrome type II [PDF]
Background: Polymorphisms within the insulin gene can influence insulin expression in the pancreas and especially in the thymus, where self-antigens are processed, shaping the T cell repertoire into selftolerance, a process that protects from ß-cell ...
Lange, Britta Kristina +29 more
core +2 more sources
Metabolic and Fluid Biomarkers Support Microglia Activation in Amyotrophic Lateral Sclerosis
ABSTRACT Amyotrophic lateral sclerosis is an incurable neurodegenerative disease involving motor neuron degeneration and metabolic and immune dysfunction. We combined clinical data, cerebrospinal fluid biomarkers and fluorodeoxyglucose positron emission tomography with magnetic resonance imaging to investigate the role of reactive microglia in disease ...
Matteo Zanovello +10 more
wiley +1 more source
The association of gene polymorphisms with peri-implant mucositis and peri-implantitis: A systematic review and meta-analysis [PDF]
Background. The current study aimed to systematically review the existing evidence on potential links between gene polymorphisms and the occurrence of peri-implant mucositis (PIM) or peri-implantitis (PI). Methods.
Soheil Shahbazi +4 more
doaj +1 more source
Background Vascular endothelial growth factor (VEGF) gene is highly polymorphic, and single nucleotide polymorphisms (SNP) of VEGF gene are associate with cancer prognosis. This study aimed to analyze the correlation of VEGF gene polymorphisms with grade
Changjiang Liu +3 more
doaj +1 more source
A comprehensive analysis of interleukin-4 receptor polymorphisms and their association with atopy and IgE regulation in childhood [PDF]
Background: The interleukin (IL) 4/IL13 pathway is involved in the regulation of IgE production associated with atopic diseases. Numerous polymorphisms have been identified in the coding region of the IL4 receptor alpha chain (IL4Ra) and previous ...
Kabesch, Michael +7 more
core +1 more source
Stage‐Specific Patterns of Imaging and Non‐Motor Biomarkers in Spinocerebellar Ataxia Type 3
ABSTRACT Objective Advancements in disease‐modifying therapies for spinocerebellar ataxia Type 3 (SCA3) underscore the need for robust biomarkers to monitor disease progression and evaluate treatment efficacy. Although motor phenotypes have been well characterized, less is known about non‐motor and imaging‐based features across different disease stages.
Chun Li +17 more
wiley +1 more source
The role of vitamin D receptor gene polymorphisms in Type 2 Diabetes Mellitus Susceptibility and Pathogenesis [PDF]
Type 2 Diabetes Mellitus (T2DM) is a multifactorial disease influenced by both genetic and environmental factors. Among the genetic factors, vitamin D receptor (VDR) gene polymorphisms have been studied for their potential role in T2DM susceptibility ...
Rola Ibrahim, Alaa Wahba
doaj +1 more source
Tandem repeat copy-number variation in protein-coding regions of human genes [PDF]
BACKGROUND: Tandem repeat variation in protein-coding regions will alter protein length and may introduce frameshifts. Tandem repeat variants are associated with variation in pathogenicity in bacteria and with human disease.
O'Dushlaine, Colm T. +7 more
core +1 more source

