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A novel mutation in FNIP1 associated with a syndromic immunodeficiency and cardiomyopathy
A novel mutation in FNIP1 associated with a syndromic immunodeficiency and cardiomyopathy
Genetic variants in Folliculin interacting protein 1 (FNIP1) were recently discovered as monogenic causes for immunodefici...
Epistatic effects of IGHG and FCGRIIB genes on the development of Alzheimer’s disease in African Americans
Epistatic effects of IGHG and FCGRIIB genes on the development of Alzheimer’s disease in African Americans
Genome-wide association studies (GWAS) of Alzheimer’s disease (AD) have identified a large number of susceptibility ...
Evolutionary diversity of CXCL16-CXCR6: Convergent substitutions and recurrent gene loss in sauropsids
Evolutionary diversity of CXCL16-CXCR6: Convergent substitutions and recurrent gene loss in sauropsids
The CXCL16-CXCR6 axis is crucial for regulating the persistence of CD8 tissue-resident memory T cells (TRM). CXCR6 deficie...
Using bioinformatics to investigate functional diversity: a case study of MHC diversity in koalas
Using bioinformatics to investigate functional diversity: a case study of MHC diversity in koalas
Conservation genomics can greatly improve conservation outcomes of threatened populations, including those impacted by dis...
A genome assembly and transcriptome atlas of the inbred Babraham pig to illuminate porcine immunogenetic variation
A genome assembly and transcriptome atlas of the inbred Babraham pig to illuminate porcine immunogenetic variation
The inbred Babraham pig serves as a valuable biomedical model for research due to its high level of homozygosity, includin...
Sequence variants underlying severe combined immunodeficiency and leukocyte adhesion deficiency type 1 in six consanguineous families
Sequence variants underlying severe combined immunodeficiency and leukocyte adhesion deficiency type 1 in six consanguineous families
Inborn errors of immunity (IEI) are defined as genetic disorders affecting the immune system and resulting in diverse clin...
Potential contribution of gut microbiota in the development of autoantibodies in T1D children carrying HLA-DRB1/DQB1 risk alleles: an experimental and in silico analysis
Potential contribution of gut microbiota in the development of autoantibodies in T1D children carrying HLA-DRB1/DQB1 risk alleles: an experimental and in silico analysis
This study aimed to investigate the prevalence of insulin autoantibody (IAA), glutamic acid decarboxylase antibody (GADA),...
NOD alleles at Idd1 and Idd2 loci drive exocrine pancreatic inflammation
NOD alleles at Idd1 and Idd2 loci drive exocrine pancreatic inflammation
Non-obese diabetic (NOD) mice spontaneously develop autoimmune diabetes and have enabled the identification of several loc...
The effect of circulating cytokines on the risk of systemic lupus erythematosus: Mendelian randomization and observational study
The effect of circulating cytokines on the risk of systemic lupus erythematosus: Mendelian randomization and observational study
Systemic lupus erythematosus (SLE) is a complex autoimmune disorder, the etiology of which involves the alterations in cir...
Bioinformatic analysis predicts the regulatory function of noncoding SNPs associated with Long COVID-19 syndrome
Bioinformatic analysis predicts the regulatory function of noncoding SNPs associated with Long COVID-19 syndrome
Long or Post COVID-19 is a condition of collected symptoms persisted after recovery from COVID-19. Host genetic factors pl...
Decoding the genetic landscape of juvenile dermatomyositis: insights from phosphorylation-associated single nucleotide polymorphisms
Decoding the genetic landscape of juvenile dermatomyositis: insights from phosphorylation-associated single nucleotide polymorphisms
Genome-wide association studies (GWASs) have identified genetic susceptibility loci associated with juvenile dermatomyosit...
A possible role of lncRNA MEG3 and lncRNA MAFG-AS1 on miRNA 147-b in the pathogenesis of Behcet’s disease
A possible role of lncRNA MEG3 and lncRNA MAFG-AS1 on miRNA 147-b in the pathogenesis of Behcet’s disease
Behcet’s disease (BD) is a multisystem disease with altered Toll-like receptors (TLRs) on macrophages. Long noncodin...
Associations between immune cell traits and autoimmune thyroid diseases: a bidirectional two-sample mendelian randomization study
Associations between immune cell traits and autoimmune thyroid diseases: a bidirectional two-sample mendelian randomization study
Autoimmune thyroid diseases (AITDs), mainly including Graves’ disease (GD) and Hashimoto’s thyroiditis (HT), a...
Dog leukocyte antigen genotyping across class I and class II genes in beagle dogs as laboratory animals
Dog leukocyte antigen genotyping across class I and class II genes in beagle dogs as laboratory animals
Dog leukocyte antigen (DLA) polymorphisms have been found to be associated with inter-individual variations in the risk, s...
HLA alleles, haplotypes frequencies, and their association with hematological disorders: a report from 1550 families whose patients underwent allogeneic bone marrow transplantation in Egypt
HLA alleles, haplotypes frequencies, and their association with hematological disorders: a report from 1550 families whose patients underwent allogeneic bone marrow transplantation in Egypt
HLA alleles are representative of ethnicities and may play important roles in predisposition to hematological disorders. W...
B-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study
B-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study
Hypogammaglobulinemia without B-cells is a subgroup of inborn errors of immunity (IEI) which is characterized by a signifi...
Immunoglobulin genes and severity of COVID-19
Immunoglobulin genes and severity of COVID-19
There is tremendous interindividual and interracial variability in the outcome of SARS-CoV-2 infection, suggesting the inv...
Determination of HLA class II risk alleles and prediction of self/non-self-epitopes contributing Hashimoto’s thyroiditis in a group of Iranian patients
Determination of HLA class II risk alleles and prediction of self/non-self-epitopes contributing Hashimoto’s thyroiditis in a group of Iranian patients
One of the probable hypotheses for the onset of autoimmunity is molecular mimicry. This study aimed to determine the HLA-I...
A novel hemizygous CD40L mutation of X-linked hyper IgM syndromes and compound heterozygous DOCK8 mutations of hyper IgE syndromes in two Chinese families
A novel hemizygous CD40L mutation of X-linked hyper IgM syndromes and compound heterozygous DOCK8 mutations of hyper IgE syndromes in two Chinese families
X-linked hyper-immunoglobulin M (X-HIGM) syndrome and autosomal recessive hyper-immunoglobulin E syndrome (HIES) are rare ...
Lack of Syndecan-1 promotes the pathogenesis of experimental rheumatoid arthritis
Lack of Syndecan-1 promotes the pathogenesis of experimental rheumatoid arthritis
Syndecan-1 (Sdc-1), a transmembrane heparan sulfate protein, is implicated in several pathophysiological processes includi...
Evolutionary divergence of TLR9 through ancestral sequence reconstruction
Evolutionary divergence of TLR9 through ancestral sequence reconstruction
The transmembrane pattern recognition receptor, Toll-like receptor (TLR), are best known for their roles in innate immunit...
Causal effect of interleukin (IL)-6 on blood pressure and hypertension: A mendelian randomization study
Causal effect of interleukin (IL)-6 on blood pressure and hypertension: A mendelian randomization study
To examine whether circulating interleukin-6 (IL-6) levels (CirIL6) have a causal effect on blood pressure using Mendelian...
Resolving unknown nucleotides in the IPD-IMGT/HLA database by extended and full-length sequencing of HLA class I and II alleles
Resolving unknown nucleotides in the IPD-IMGT/HLA database by extended and full-length sequencing of HLA class I and II alleles
In the past, identification of HLA alleles was limited to sequencing the region of the gene coding for the peptide binding...
Concise review: The heterogenous roles of BATF3 in cancer oncogenesis and dendritic cells and T cells differentiation and function considering the importance of BATF3-dependent dendritic cells
Concise review: The heterogenous roles of BATF3 in cancer oncogenesis and dendritic cells and T cells differentiation and function considering the importance of BATF3-dependent dendritic cells
The transcription factor, known as basic leucine zipper ATF-like 3 (BATF3), is a crucial contributor to the development of...
Regulation of genes involved in the metabolic adaptation of murine microglial cells in response to elevated HIF-1α mediated activation
Regulation of genes involved in the metabolic adaptation of murine microglial cells in response to elevated HIF-1α mediated activation
Microglia cells are activated in response to different stress signals. Several metabolic adaptations underlie microglia ac...
Costimulatory receptors in the channel catfish: CD28 family members and their ligands
Costimulatory receptors in the channel catfish: CD28 family members and their ligands
The CD28-B7 interaction is required to deliver a second signal necessary for T-cell activation. Additional membrane recept...
Determination for KIR genotype and allele copy number via real-time quantitative PCR method
Determination for KIR genotype and allele copy number via real-time quantitative PCR method
Killer cell immunoglobulin-like receptor (KIR) and human leukocyte antigen (HLA) play crucial roles in regulating NK cell ...
The impact of long COVID on health-related quality of life in patients 6 months after discharge with severe COVID-19
The impact of long COVID on health-related quality of life in patients 6 months after discharge with severe COVID-19
This study investigates the relationship between long COVID and health-related quality of life (HRQOL) in patients dischar...
Patterns of evolution in MHC class II DQA and DQB exon 2 genes of Alpine mountain hares, Lepus timidus varronis, and sympatric and parapatric brown hares, L. europaeus, from Switzerland
Patterns of evolution in MHC class II DQA and DQB exon 2 genes of Alpine mountain hares, Lepus timidus varronis, and sympatric and parapatric brown hares, L. europaeus, from Switzerland
In natural populations, hybridization is known to occur between a wide range of species. However, its evolutionary signifi...
The COVID-19 inflammation and high mortality mechanism trigger
The COVID-19 inflammation and high mortality mechanism trigger
The COVID-19 pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) lasted from March 2020 to May...
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