Ask about this productRelated genes to: PDIA5 antibody
- Gene:
- PDIA5 NIH gene
- Name:
- protein disulfide isomerase family A member 5
- Previous symbol:
- -
- Synonyms:
- PDIR, FLJ30401
- Chromosome:
- 3q21.1
- Locus Type:
- gene with protein product
- Date approved:
- 2005-03-02
- Date modifiied:
- 2015-11-16
Related products to: PDIA5 antibody
Related articles to: PDIA5 antibody
- Haemophilia A (HA) is a rare congenital, recessive X-linked bleeding disorders caused by the lack or deficiency of clotting factor VIII (FVIII). Missense variants, which can alter protein structure, conformation and immunogenicity, are found in nearly all individuals with mild or moderate hemophilia A but in fewer than 20% of those with the severe form. Here, we identified a 26-year-old man with a hemizygous F8 mutation (NM_000132.4(F8):c.5399 G > A (p. ArgHis)) through direct sequencing of all exons of the F8 gene, which is established to cause a lack of FVIII:c (%) in circulating blood and leads to moderate HA. In addition, we also provide evidence for the reduced active FVIII (FVIII:c (%)) caused by p. ArgHis mutation. In detail, we show that p. ArgHis mutation may activate the unfolded protein response through IRE1a-XBP1 pathway and reduce stability of FVIII. Results from co-immunoprecipitation assays showed that p. ArgHis mutation decreases the interaction between FVIII and PDIA5. Furthermore, unbiased molecular dynamics simulations highlight the importance of Arg1800 in the interactions FVIII and von Willebrand factor. These findings demonstrate the crucial role of Arg1800 in the correct biogenesis of FVIII and shed light on molecular mechanisms through which missense mutations in FVIII contribute to the development of moderate hemophilia A. - Source: PubMed
Wang HanTian JiaqiZhang MingZhang LiyuanLiu ChunxiaNiu LuJia Wenjuan - Assessing genetic diversity in various native poultry breeds, including bantam/dwarf ones, is instrumental for their conservation as genetic resources, identifying their specific genetic features, and exploring the history of their genetic divergence. Rare chicken breeds are usually carriers of peculiar phenotypic traits, including adaptations to local conditions, disease resistance, and unique performance features. Here, we report for the first time SNP-based genetic characterization of the Russian Korolyok, translated as "kinglet," relative to five other dwarf/small breeds: Cochin Bantam, Hamburg Bantam Silver Spangled, Polish White-crested Black, Red White-tailed Dwarf and Silkie White. We estimated phenotypes, heterozygosity, inbreeding, effective population size, and runs of homozygosity (ROHs). Some breeds had higher genetic diversity and others showed elevated inbreeding rates in their genomes. With lower effective population sizes (both presently and in the past), rare breeds came from a limited number of ancestors or were under strong selection pressure over many generations. Within 22 ROHs, we identified 26 prioritized candidate genes (, , , , , , , , , , , , , , , , , , , etc.). Our data offer whole-genome insights into genetic variability, history, phylogeny, selective sweeps, and candidate genes of a distinct indigenous Russian chicken breed and other bantam/dwarf breeds. - Source: PubMed
Publication date: 2026/02/17
Dementieva Natalia VShcherbakov Yuri SVakhrameev Anatoli BRomanov Michael N - The biological mechanisms linking alcohol consumption to health outcomes are not fully understood, but growing evidence suggests a role for DNA methylation (DNAm). In this study, we conducted the largest and most comprehensive methylome-wide association study (MWAS) of alcohol using a cohort of 13,970 participants and, through epigenomic deconvolution, investigated cell-type specific associations in 12 different blood cell-types. We then replicated our whole blood findings using summary statistics from an existing alcohol MWAS and characterized our findings using bioinformatic analyses. We identified 1,266 methylome-wide significant (p < 9.42×10) findings in whole blood. Fewer significant associations were found in the cell-types: 8 in both neutrophils and CD8+ naïve T-cells, 3 in both CD8+ memory T-cells and eosinophils, and 1 in T regulatory cells. The top replicating finding in whole blood was in SLC7A11 (p = 1.19×10) and was previously implicated in other alcohol MWASs. In the cell-type specific results, the top finding was in PDIA5 in CD8+ naïve T-cells (p = 2.83×10). Whole blood and cell-type specific findings tended to show significant overlap with genome-wide association studies of problematic alcohol use but not those based on alcohol consumption. In summary, we observed considerable overlap with previous alcohol MWASs and GWASs suggesting robust associations. Further, our novel DNAm findings, such as the involvement of Rho GTPase pathways, implicate new therapeutic targets that warrant further investigation. Due to the large number of findings in whole blood and coordinated changes across cell-types, we hypothesize results may capture alcohol exposure effects. Future work should use novel design to disentangle exposure versus liability effects. - Source: PubMed
Publication date: 2026/02/16
Clark Shaunna LRamachandruni SrimannSchettini Gustavo PCarreras-Gallo NataliaDwaraka Varun BSmith Ryanvan den Oord Edwin J C G - Dengue virus (DENV) remains a pervasive global health threat, further complicated by the occurrence of neutropenia-a distinct clinical feature indicative of an altered host immune response, closely correlated with progressive disease deterioration and increased severity. Nevertheless, the molecular mechanisms underlying dengue-associated neutropenia remain inadequately elucidated. In this study, the comprehensive plasma proteomic profiling of dengue fever (DF) patients, DF patients with neutropenia (DFN), and healthy controls (HC) was systematically analyzed using a deep data-independent acquisition (DIA) workflow combined with LC-MS/MS analysis, to elucidate key cellular pathways and identify promising biomarkers. DFN patients exhibited significant dual hematological alterations, with notable changes in both platelet and neutrophil counts, reflecting a complex disturbance in hematological homeostasis during dengue progression. DIA analysis quantified 2475 proteins, revealing widespread proteomic alterations among the DF, DFN, and HC subjects. Differential analysis highlighted significant fluctuations in proteins related to cytoskeletal organization, metabolic regulation, and intracellular signaling. Enrichment analyses implicated pathways such as focal adhesion, platelet activation, and PI3K-Akt signaling. Machine learning methods further identified a panel of four biomarkers-CNST, DSTN, DUSP3, and PDIA5-with high predictive accuracy for dengue diagnosis and subgroup differentiation. In conclusion, this study advances our understanding of dengue's plasma proteomic landscape and underscores the synergistic potential of DIA-based proteomics and machine learning in unveiling host-response mechanisms, thereby informing early diagnosis and targeted therapeutic strategies. - Source: PubMed
Publication date: 2025/12/08
Ou GuanyongWang JunZou RongrongLai DongmeiQian QiLiang XiaowenWang YuelinMa CanghaiLiao HaoNiu ShiyuYuan JingLiu YingxiaYang Yang - Pancreatic neuroendocrine neoplasms (PanNENs) are characterized by significant clinical heterogeneity and limited therapeutic options, particularly in metastatic or recurrent cases. Identifying actionable molecular targets and biomarkers is essential for improving patient outcomes. - Source: PubMed
Publication date: 2025/10/23
Guo HuiminZheng GuiwenYao ShuzhanJia QiangTan JianMeng Zhaowei