Goat Anti-Human Defensin alpha-1
- Known as:
- Goat Antibody toHuman Defensin a-1
- Catalog number:
- 129-10241
- Product Quantity:
- 100
- Category:
- -
- Supplier:
- Ray Biotech
- Gene target:
- Goat Anti-Human Defensin alpha-1
Related genes to: Goat Anti-Human Defensin alpha-1
- Gene:
- RALGAPA1 NIH gene
- Name:
- Ral GTPase activating protein catalytic alpha subunit 1
- Previous symbol:
- GARNL1
- Synonyms:
- GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1
- Chromosome:
- 14q13.2
- Locus Type:
- gene with protein product
- Date approved:
- 2003-10-09
- Date modifiied:
- 2018-11-19
- Gene:
- SERPINA1 NIH gene
- Name:
- serpin family A member 1
- Previous symbol:
- PI
- Synonyms:
- AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT
- Chromosome:
- 14q32.13
- Locus Type:
- gene with protein product
- Date approved:
- 1986-01-01
- Date modifiied:
- 2016-10-05
- Gene:
- TMED11P NIH gene
- Name:
- transmembrane p24 trafficking protein 11, pseudogene
- Previous symbol:
- -
- Synonyms:
- p24alpha1, p24a1
- Chromosome:
- 4p16.3
- Locus Type:
- pseudogene
- Date approved:
- 2009-01-06
- Date modifiied:
- 2015-08-11
Related products to: Goat Anti-Human Defensin alpha-1
Related articles to: Goat Anti-Human Defensin alpha-1
- In α-1 antitrypsin (AAT) deficiency (AATD), emphysema is classically linked to protease-antiprotease imbalance caused by decreased antiprotease AAT due levels and function. This decrease is secondary to the impaired release of Z-AAT polymers from hepatocytes carrying Pi*Z, E342K mutation in SERPENA1 gene. Whether the accumulation of Z-AAT polymers in distal lungs contributes directly to emphysema pathogenesis has remained unexplored due to the lack of suitable model systems. We characterized lung injury and airspace enlargement in a Z-AAT-overexpressing murine model. We generated Z-AAT Serpina1Null mice overexpressing human (E342K) SERPENA1 in Serpina1Null mice and analyzed pulmonary phenotypes in young and aged animals, complemented by translational studies using primary cells, bronchoalveolar lavage fluid (BALf), and lung tissue from individuals who have never smoked and individuals with AATD. Young Z-AAT Serpina1Null mice accumulated Z-AAT polymers in hepatocytes, plasma, and BALf, exhibited spontaneous neutrophilic lung inflammation, increased alveolo-capillary permeability, and premature airspace enlargement, which was worse in older Z-AAT Serpina1Null mice. Moreover, Z-AAT polymers accumulated in alveolar type-2 epithelial (AT2) cells and lung macrophages, associated with endoplasmic reticulum (ER) stress, mitochondria dysfunction, and incomplete autophago-lysosomal fusion, which we recapitulated in lung samples from individuals with AATD. These findings support the pathogenic role of Z-AAT polymer accumulation in distal lung epithelium as a driver of epithelial, endothelial, and macrophage dysfunction linked to AATD emphysema. - Source: PubMed
Publication date: 2026/08/10
Magallón Serrano MariaKhodayari NazliBowers WilliamManning Edward PLiu XinranLee JungnamFlagg Tammy OOshins ReginaGriffin AidanPatel SahilLascano Jorge EChandra DivayMajka Susan MPetrache IrinaBrantly Mark LSerban Karina A - Haploinsufficiency of A20 (HA20) is a rare genetic autoinflammatory syndrome caused by heterozygous loss-of-function variants in TNFAIP3. It typically appears in early childhood with recurrent fevers, mucocutaneous ulcers, gastrointestinal symptoms, and occasional eye involvement. The overlapping features with Behçet disease and other autoinflammatory disorders often make diagnosis challenging. - Source: PubMed
Publication date: 2026/08/04
Salehzadeh FarhadBabazadeh Khoei Faeze - BackgroundIncreasing evidence shows that, compared with the general population, the prevalence of coronavirus disease 2019 is significantly higher in patients with psoriasis treated with immunosuppressive therapy. However, the underlying mechanisms have not yet been clarified.Materials and methodsThe aim of this study was to further investigate the molecular mechanisms underlying these two diseases. Gene expression profiles for coronavirus disease 2019 and psoriasis were downloaded from the gene expression omnibus database (GSE150316 and GSE30999). After identifying the common differentially expressed genes between coronavirus disease 2019 and psoriasis, functional annotation, protein-protein interaction network analysis, module construction, and hub gene identification were performed. Finally, transcription factor-gene regulatory and transcription factor-miRNA regulatory networks of the hub genes were constructed.ResultsA total of 306 common differentially expressed genes, including 168 upregulated genes and 138 downregulated genes, were identified and used for subsequent analysis. According to Kyoto Encyclopedia of Genes and Genomes enrichment analysis, the Rap1 signaling pathway, axon guidance, and focal adhesion contribute to the occurrence and development of coronavirus disease 2019 and psoriasis. Finally, five hub genes, namely EGF, IL1B, SERPINA1, CD8A, and WNT5A, were identified using the CytoHubba plug-in. Among them, three hub genes (EGF, SERPINA1, and CD8A) showed good diagnostic marker value for coronavirus disease 2019 and psoriasis.ConclusionOur findings suggest that coronavirus disease 2019 and psoriasis share common molecular mechanisms that are driven by several specific hub genes. This study provides new insights into the relationship between coronavirus disease 2019 and psoriasis. - Source: PubMed
Publication date: 2026/07/28
Zhang YuanyuanXie XiDai TingtingLi WeiZhang Wen - Alpha-1 antitrypsin deficiency (AATD) is an underdiagnosed hereditary disorder that predisposes individuals to lung and liver disease. While its prevalence is higher in Northern Europe, data from specific, isolated populations in other regions are scarce. This study assessed the prevalence of pathogenic variants in the adult population of Ponte di Legno, a secluded town in the Italian Alps, to investigate potential founder effects involving rare genotypes. A cross-sectional community-based screening was conducted. Adult residents without previously diagnosed chronic respiratory diseases were invited to undergo spirometry and provide venous blood samples for serum AAT and CRP measurement. Buccal swabs were collected for genotyping, which was performed using a validated multiplex Luminex xMAP assay detecting 14 common and rare variants, with isoelectric focusing and Sanger sequencing for further characterization when required. Ninety-one subjects were enrolled (median age 61 years; 37.4% male). Five individuals (5.5%) carried pathogenic variants: one Pi*MS heterozygote (1.1%), two Pi*MZ heterozygotes (2.2%), and two individuals heterozygous for the rare Pi*Mheerlen variant (Pi*M/Mheerlen) (2.2%). Median serum AAT levels were significantly lower in carriers of deficient alleles compared with Pi*MM individuals (100 mg/dL vs. 125 mg/dL, = 0.0218). This community-based screening revealed a notable prevalence of AATD carriers in a geographically isolated Italian community, including two cases of the rare Pi*Mheerlen variant, suggesting a possible local founder effect. These findings underscore the value of targeted screening programs using rare variant panels to uncover hidden genetic architectures in isolated populations. - Source: PubMed
Publication date: 2026/07/10
Ragnoli BeatriceBertelegni CarlottaVeselagu XheniChiazza FaustoMalerba Mario - The interindividual phenotypic heterogeneity in Alpha-1 Antitrypsin Deficiency (AATD), despite a shared genetic etiology (the Z-allele of ), is explained by the interaction of dual pathogenic mechanisms (gain-of-function vs. loss-of-function), additional genetic modifiers, and environmental or metabolic factors. Building on recent evidence suggesting divergent disease trajectories, we investigated whether pulmonary and hepatic impairments represent coupled manifestations or independent clinical dimensions within a large European cohort. - Source: PubMed
Publication date: 2026/06/24
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