Ask about this productRelated genes to: SLC30A7 antibody
- Gene:
- SLC30A7 NIH gene
- Name:
- solute carrier family 30 member 7
- Previous symbol:
- -
- Synonyms:
- ZnTL2, ZNT7
- Chromosome:
- 1p21.2
- Locus Type:
- gene with protein product
- Date approved:
- 2003-03-14
- Date modifiied:
- 2016-10-05
Related products to: SLC30A7 antibody
Related articles to: SLC30A7 antibody
- This report aimed to describe two families of Mennonite heritage affected with hypophosphatasia (HPP) and biallelic c.1001G>A/c.571G>A in four individuals. Additionally, we conduct a systematic review of studies considering the above compound heterozygous genotype and present novel insights and evidence inferred from in silico predictions using Ensembl's Variant Effect Predictor (VEP) platform and STRING protein-protein interaction (PPI) network analysis to explore these genetic variations and plausible interacting pathways for the disorder that remain for consideration in future studies. Intrafamilial and interfamilial variability of phenotypes was observed in the four patients affected with the identical c.1001G>A/c.571G>A mutation. In contrast, in the seven unaffected family members, a specific genotype was not available. Seven eligible studies exploring c.1001G>A/c.571G>A were identified, and significant heterogeneity ( < 0.05) was observed across four studies. Ensembl VEP inferred a dual effect for rs121918007 and rs121918009, involving 17 variants located in the exome and four classified as non-coding associated with all HPP presentations, as well as serum alkaline phosphatase levels, choline phosphate levels, osteogenesis imperfecta, and inborn genetic diseases. PPI network modeling predicted 10 genes () interacting with , highlighting their potential impact on bone formation and homeostasis, metabolism, and gene expression. These results may shed light on HPP variability by disrupting key metabolic and transcriptional pathways and provide a comprehensive view of their functional relevance, which suggests a complex genetic etiology for HPP. - Source: PubMed
Publication date: 2025/09/24
Salinas-Torres Víctor MSalinas-Torres Rafael AVelarde-Felix Jesús SRufino-Serralde YuririaRoeniger-Desatnik AntjeVillagrán-Luján Manuel AMata-Martínez Ana BRamírez-Zenteno Jorge - The global incidence of diabetic foot ulcers (DFUs) has increased in parallel with the global incidence of diabetes mellitus, leading to a range of pathophysiologic conditions and a poor prognosis. ENTPD1, also known as CD39, is an extracellular nucleotidase associated with immunogenic cell death (ICD), but its role in DFUs remains unclear. Through single-cell RNA sequencing, we obtain the genetic, functional, trajectory, and communication differences between DFUs and healthy subjects. Then, we selected vascular endothelial cells (Vasendo) for further re-clustering to identify DFU-healing-promoted ENTPD1+ Vasendo and related ligand-receptor pairs in cell communication. The study demonstrated that ICD level and ENTPD1 expression were strongly correlated with DFUs, exhibiting greater enrichment in the Healing DFUs group than the Non-healing group. The Vasendo in the Healing group were enriched in the healing of DFUs and exhibited complex cellular communication. Re-clustering of Vasendo further identified the ENTPD1+ subtype. The trajectory and cell communication analysis further confirmed the healing-promoting effects of ENTPD1+ Vasendo, with inhibited ACKR1 receptor and MIF ligand when communicating with macrophages. Finally, expression quantitative trait loci (eQTL) Mendelian randomization and bulk sequencing validation data confirmed that upregulated expression of ANKIB1 and ANP32E with downregulated expression of SLC30A7 and TMF1 genes in DFUs Vasendo increased the risk of secondary diabetic peripheral artery disease (DPAD). Our study demonstrated the molecular mechanisms underlying DFUs healing and secondary DPAD occurrence, providing potential therapeutic targets for DFUs and DPAD therapy. - Source: PubMed
Zhang HeaoLi YichuanZhou ChuchaoFeng HetingLiu YilingShao ShiyingWu Yiping - Inherited bone marrow failure (IBMF) is a life-threatening condition. Excessive expression of TP53 induces cell cycle arrest and apoptosis of hematopoietic cells in individuals with IBMF. We recently discovered two pathogenic variants, NM_001144884:c.21dup;p.(Asp8ArgfsTer3) and NM_001144884:c.842 + 15 T > C, in ZNT7 associated with IBMF (Ziegler-Huang Syndrome; BMF8). However, the pathophysiologic mechanism of IBMF caused by ZNT7 mutations remained unknown. - Source: PubMed
Publication date: 2025/04/21
Huang LipingNguyen Steven TYang ZhongyueKirschke Catherine PProuteau ClémentCopin Marie-ChristineBonneau DominiqueBlanchet OdileMallebranche CoraliePellier IsabelleCoutant RégisMiot CharlineZiegler Alban - Dairy cows with clinical ketosis (CK) exhibit metabolic changes, including intense adipose tissue (AT) lipolysis and systemic insulin resistance, that increase plasma BHB and free fatty acids (FFA). Cows with CK also have systemic inflammation, predisposing them to inflammatory and infectious diseases. This inflammatory process is modulated in part by oxidized fatty acids (oxylipins) that regulate all aspects of inflammation. Oxylipin profiles have been characterized in healthy periparturient cows, but their dynamics during CK are unknown. Clinical ketosis is an acute metabolic disease requiring clinical therapy, commonly including propylene glycol (PG) as a gluconeogenic agent. Recently, we showed that including lipolysis inhibitors such as niacin (NIA) and flunixin meglumine (FM) improved CK recovery. These drugs may modulate oxylipin biosynthesis by regulating the release of PUFA (oxylipin substrates) and cyclooxygenase activity. However, their impact on oxylipin profiles in cows with CK is unknown. The objective of this study was to determine the dynamics of specific linoleic and arachidonic acid-derived oxylipins during CK and following therapy with PG, NIA, and FM. Multiparous Jersey cows (n = 72; 7.1 DIM) with CK from a commercial dairy were sampled. Inclusion criteria were CK symptoms (lethargy, depressed appetite, and reduced rumen fill) and blood BHB ≥ 1.2 mmol/L. The CK cows (n = 24/treatment) were randomly assigned to one of the 3 treatments: (1) PG: 310 g orally once daily for 5 d, (2) PG + NIA (PGNIA): 24 g orally once daily for 3 d, (3) PG + NIA + FM (PGNIAFM): 1.1 mg/kg i.v. once daily for 3 d. Healthy control cows (HC; n = 24) matched by lactation and DIM (±2 d) were also included. Plasma oxylipins were quantified at enrollment and 7 d later using HPLC-MS/MS. At enrollment, CK had higher concentrations of arachidonic acid (ARA)-derived 5- and 20-HETE, 8,9-, 11,12-, and 14-15-DHET, and lower concentrations of linoleic acid (LA)-derived 12,13-EpOME, 13-oxoODE, 9,10- and 12,13-DiHOME. Integrated analysis of biological pathways and oxylipin profiles using Ingenuity Pathway Analysis revealed ARA metabolism as the top pathway activated during CK. By d 7, treatment with PGNIAFM restored plasma PUFA and oxylipins to profiles similar to HC. Ingenuity Pathway Analysis showed that PGNIAFM activated the zinc transporter SLC30A7, associated with reduced activation of the ARA pathway. Results indicate that higher FA availability during CK, driven in part by dysregulated lipolysis, increases the pool of substrates for oxylipin biosynthesis. These oxylipins may play a role in both metabolic dysregulation and restoring homeostasis during CK. Inhibiting lipolysis and cyclooxygenase activity with NIA and FM can alter ARA- and LA-derived oxylipin biosynthesis. These findings underscore the potential use of lipolysis inhibitors NIA and FM in CK therapeutics and highlight the importance of understanding oxylipin pathways in the pathogenesis of CK. - Source: PubMed
Publication date: 2024/10/29
Chirivi MiguelCortes-Beltran DanielaGandy JeffContreras G Andres - Preclinical and clinical studies have shown that dietary zinc deficiency can lead to symptoms similar to those observed in major depressive disorder (MDD). However, the underlying molecular mechanisms remain unclear. To investigate these mechanisms, we examined proteomic changes in the prefrontal cortex (PFC) and hippocampus (HP) of rats, two critical brain regions implicated in the pathophysiology of depression. - Source: PubMed
Publication date: 2024/12/03
Gąsior ŁukaszPochwat BartłomiejZaręba-Kozioł MonikaWłodarczyk JakubGrabrucker Andreas MartinSzewczyk Bernadeta