Ask about this productRelated genes to: PNPO antibody
- Gene:
- PNPO NIH gene
- Name:
- pyridoxamine 5'-phosphate oxidase
- Previous symbol:
- -
- Synonyms:
- PDXPO
- Chromosome:
- 17q21.32
- Locus Type:
- gene with protein product
- Date approved:
- 2004-11-22
- Date modifiied:
- 2014-11-19
Related products to: PNPO antibody
Related articles to: PNPO antibody
- Evaluation of etiology, phenotype, and long-term outcome, and defining the predictors of outcome in children with pyridoxine-responsive seizures. - Source: PubMed
Publication date: 2026/07/13
Kravljanac RužicaVučetić Tadić BiljanaOparnica Vladimir - The response to lifestyle modification (LSM) in children with obesity is variable and difficult to predict. The aim of the study was to explore the relationship between circulating miRNA and mRNA expression patterns and the individual response to simple LSM in pediatric obesity: (i) identification of specific miRNAs/mRNA associated with successful weight reduction following LSM and (ii) use of these associations to inform the development of more targeted and effective intervention strategies. - Source: PubMed
Publication date: 2026/07/02
Gawlik-Starzyk Aneta MShmoish MichaelBereket AbdullahWasniewska Malgorzata GabrielaAntosz AleksandraSzeliga Kamila MagdalenaKırkgoz TarıkTuran SerapGuran TulayAversa TommasoCorica DomenicoWudy Stefan AHartmann Michaela FSobalska-Kwapis MartaStrapagiel DominikHochberg Ze Apos Ev - Pediatric epilepsy is a clinically and genetically heterogeneous group of disorders, particularly in early-onset and syndromic presentations. Data integrating molecular findings with detailed clinical phenotyping remain limited in Kazakhstan and Central Asia. We conducted a retrospective, single-center, clinically selected, referral-based case series study of 31 pediatric patients evaluated at a tertiary center in Kazakhstan for epilepsy or epilepsy-associated neurodevelopmental disorders and found to have clinically relevant or potentially relevant genetic findings. Clinical records were reviewed for demographics, age at seizure onset, seizure semiology, developmental profile, EEG, MRI, extra-neurological features, treatment response, and family history. Variants were interpreted using ACMG-based criteria, and inheritance/segregation data were incorporated where available. The cohort included 15 males and 16 females. Median seizure onset was 5.0 months (IQR 2.0-13.0), and 22/31 patients (71.0%) presented within the first year of life. Developmental delay/intellectual impairment was observed in 20/31 cases (64.5%), speech delay in 17/31 (54.8%), motor delay in 15/31 (48.4%), and hypotonia in 12/31 (38.7%). Variants were identified in 23 genes, including several variants with limited or no prior support in ClinVar or peer-reviewed reports. Ion channelopathies were the largest mechanistic group (12/31, 38.7%), followed by mitochondrial/metabolic disorders (6/31, 19.4%), mTOR pathway disorders (5/31, 16.1%), and neurodevelopmental/chromatin/transcriptional disorders (4/31, 12.9%). was the most recurrent gene (8/31, 25.8%) and showed a broad phenotypic continuum from Dravet-compatible to non-Dravet presentations. EEG and MRI abnormalities were common and often syndromic in pattern. Treatment response was frequently partial or poor, although selected genotype-linked treatment observations were noted in (carbamazepine), (pyridoxine), and one case (stiripentol). This study expands the clinicogenetic characterization of pediatric epilepsy cases with clinically relevant or potentially relevant genetic findings in Kazakhstan and highlights the value of integrated molecular, phenotypic, and segregation analysis in underrepresented populations. - Source: PubMed
Publication date: 2026/05/08
Bayanova MirgulNazarova LyazzatZhakupov AskhatMalik DiasGabdulkayum AidanaMirmanova ZhanelSatvaldina NazerkeRakhimova SauleAkilzhanova AinurYerezhepov DaurenBolatov Aidos - Huoshou black pig (HS) is a well-known indigenous Chinese breed distinguished by superior meat quality compared to Western breeds. To investigate the molecular mechanisms underlying these differences, we performed Data-Independent Acquisition(DIA) proteomic analysis on the longissimus dorsi (LD) muscle from HS and Yorkshire (YY) pigs. We identified 262 differentially expressed proteins (DEPs), including 134 upregulated and 128 downregulated in HS relative to YY. Functional enrichment analysis revealed that these DEPs were significantly involved in small molecule metabolism, oxidoreductase activity, and several key signaling pathways such as the mTOR, AMPK, and PI3K-Akt pathways. Protein -protein interaction network analysis highlighted roles in structural proteins, glycolysis, and ribosome biogenesis. Integrated transcriptomic and proteomic analysis identified five candidate genes (MGST2, PNPO, CALD1, NCAM1, ACSS1) potentially associated with meat quality traits. Parallel reaction monitoring (PRM) and quantitative PCR (qPCR) validated the consistent differential expression of these genes at both the protein and mRNA levels. These findings provide novel insights into the molecular mechanisms regulating pork quality in indigenous pig breeds. - Source: PubMed
Publication date: 2026/04/30
Cao HanyuLi XiaojinXie FeiJiang ChangshengJin MengmengGhonaim Ahmed HRen ManHu QianqianLi Shenghe - To elucidate mechanistic links among selenium measures, selenium-related genes, and immune traits in laryngeal carcinoma (LC) by integrating Mendelian randomization, bulk transcriptomic, and single-cell analyses. - Source: PubMed
Publication date: 2026/04/18
Xiang LinChen LinGong ChengTang Yao