A genome assembly and transcriptome atlas of the inbred Babraham pig to illuminate porcine immunogenetic variation [0.03%]
巴布拉罕猪的基因组汇编和转录组图谱揭示了猪免疫遗传多态性
John C Schwartz,Colin P Farrell,Graham Freimanis et al.
John C Schwartz et al.
The inbred Babraham pig serves as a valuable biomedical model for research due to its high level of homozygosity, including in the major histocompatibility complex (MHC) loci and likely other important immune-related gene complexes, which a...
Sequence variants underlying severe combined immunodeficiency and leukocyte adhesion deficiency type 1 in six consanguineous families [0.03%]
六组近亲婚配家庭中严重联合免疫缺陷和白细胞黏附缺陷1型的病因基因变异分析
Hajra Fayyaz,Atteaya Zaman,Nighat Haider et al.
Hajra Fayyaz et al.
Inborn errors of immunity (IEI) are defined as genetic disorders affecting the immune system and resulting in diverse clinical signs and symptoms. Despite the lack of diagnosis and unavailability of IEI estimation in the Pakistani populatio...
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 [0.03%]
携带HLA-DRB1 / DQB1风险等位基因的T1D儿童肠道菌群在自身抗体发展中的潜在作用：实验和计算机分析
Ata Shirizadeh,Zahra Razavi,Vahid Saeedi et al.
Ata Shirizadeh et al.
This study aimed to investigate the prevalence of insulin autoantibody (IAA), glutamic acid decarboxylase antibody (GADA), and insulinoma-associated antigen-2 antibody (IA-2A) in type 1 diabetes (T1D) children based on the presence of predi...
NOD alleles at Idd1 and Idd2 loci drive exocrine pancreatic inflammation [0.03%]
Idd1和Idd2位点的NOD等位基因驱动外分泌胰腺炎症
Laurence Caron,Daria Vdovenko,Félix Lombard-Vadnais et al.
Laurence Caron et al.
Non-obese diabetic (NOD) mice spontaneously develop autoimmune diabetes and have enabled the identification of several loci associated with diabetes susceptibility, termed insulin-dependent diabetes (Idd). The generation of congenic mice ha...
The effect of circulating cytokines on the risk of systemic lupus erythematosus: Mendelian randomization and observational study [0.03%]
循环细胞因子对系统性红斑狼疮风险的影响：孟德尔随机化和观察性研究
Dan Xue,Yu Qian,Xiao Tu et al.
Dan Xue et al.
Systemic lupus erythematosus (SLE) is a complex autoimmune disorder, the etiology of which involves the alterations in circulating cytokine levels. However, the cause-and-effect relationships and in-depth clinical relevance of them remain t...
Observational Study
Immunogenetics. 2024 Dec;76(5-6):315-322. DOI:10.1007/s00251-024-01351-x 2024
The characteristic of HLA-A, HLA-B, HLA-C, HLA-DRB1, HLA-DRB3/4/5, HLA-DQA1, HLA-DQB1, HLA-DPA1, and HLA-DPB1 alleles in Zhejiang Han population [0.03%]
汉族人群HLA-A、HLA-B、HLA-C、HLA-DRB1、HLA-DRB3/4/5、HLA-DQA1、HLA-DQB1、HLA-DPA1和HLA-DPB1等9个基因位点多态性分布特征研究
Sudan Tao,Xuan You,Nanying Chen et al.
Sudan Tao et al.
The Zhejiang Han population, a subgroup of the Southern Han ethnic group, resides in Zhejiang Province, situated on the southeast coast of China. In this study, we conducted HLA genotyping for 813 voluntary umbilical cord blood donors from ...
Decoding the genetic landscape of juvenile dermatomyositis: insights from phosphorylation-associated single nucleotide polymorphisms [0.03%]
儿童皮肌炎的遗传特征分析：来自与磷酸化相关的单核苷酸多态性的启示
Huan Zhang,Zhentao Zhang,Kedi Fan et al.
Huan Zhang et al.
Genome-wide association studies (GWASs) have identified genetic susceptibility loci associated with juvenile dermatomyositis (JDM). Single nucleotide polymorphisms related to phosphorylation (phosSNPs) are critical nonsynonymous mutations e...
Bioinformatic analysis predicts the regulatory function of noncoding SNPs associated with Long COVID-19 syndrome [0.03%]
生物信息学分析预测与长新冠综合征相关的非编码SNP的调控功能
Amit K Maiti
Amit K Maiti
Long or Post COVID-19 is a condition of collected symptoms persisted after recovery from COVID-19. Host genetic factors play a crucial role in developing Long COVID-19, and GWAS studies identified several SNPs/genes in various ethnic popula...
The sufficiency of genetic diagnosis in managing patients with inborn errors of immunity during prenatal care and childbearing [0.03%]
遗传诊断在孕期护理和生育过程中管理先天性免疫缺陷患者方面的充分性
Negin Salemi,Shima Bakhshesh,Amir Bahreini et al.
Negin Salemi et al.
Individuals with inborn errors of immunity face challenges in fertility, pregnancy, and genetic disorder transmission. Prenatal genetic counseling is crucial, especially in tribal societies with consanguineous unions. Ten families with conf...
A possible role of lncRNA MEG3 and lncRNA MAFG-AS1 on miRNA 147-b in the pathogenesis of Behcet's disease [0.03%]
长链非编码RNA MEG3和MAFG-AS1在白塞病发病机制中的可能作用及其与miRNA 147-b的关系研究
Shimaa Abobakr,Olfat Shaker,Mohamed Tharwat Hegazy et al.
Shimaa Abobakr et al.
Behcet's disease (BD) is a multisystem disease with altered Toll-like receptors (TLRs) on macrophages. Long noncoding RNA Maternally expressed gene 3 (lncRNA MEG3) and lncRNA Musculoaponeurotic fibrosarcoma oncogene family, protein G antise...