Ask about this productRelated genes to: Prdm12 Blocking Peptide
- Gene:
- PRDM12 NIH gene
- Name:
- PR/SET domain 12
- Previous symbol:
- -
- Synonyms:
- PFM9
- Chromosome:
- 9q34.12
- Locus Type:
- gene with protein product
- Date approved:
- 2000-11-28
- Date modifiied:
- 2018-03-02
Related products to: Prdm12 Blocking Peptide
Related articles to: Prdm12 Blocking Peptide
- Erythromelalgia is a descriptive term for burning pain and erythema in distal extremities, often worsened by heat and improved by cold. Inherited erythromelalgia has been primarily linked to gain-of-function variants in , encoding voltage-gated sodium channel NaV1.7. However, approximately 65% to 85% of patients with erythromelalgia do not have pathogenic variants. - Source: PubMed
Publication date: 2026/08/03
Yonas Matthew COcay Don DanielGenetti Casie ALobo KimberlyFernandes MelissaGroussis NicoleHalpin MeghanWilder Robert TYu Timothy WBerde Charles BBrownstein Catherine A - Hereditary Sensory and Autonomic Neuropathy Type VIII (HSAN-VIII) is a rare autosomal recessive disorder resulting from homozygous mutations in the PRDM12 gene. This gene encodes a protein critical for the development of sensory neurons responsible for nociception. This case report delineates the clinical presentation, with a particular focus on the oral manifestations and subsequent therapeutic interventions in an affected patient. - Source: PubMed
Publication date: 2026/07/08
Pagare JaishriBanerjee RanajoyPagare NimishaMoon Virangana - Inflammatory joint pain features in numerous musculoskeletal disorders that affect millions globally. The gene encodes a conserved zinc finger transcriptional regulator expressed selectively in the nervous system. In humans, mutations can cause congenital insensitivity to pain (CIP) or midface toddler excoriation syndrome (MiTES). Prdm12 is prominently expressed in developing somatosensory ganglia, where it plays a crucial role in nociceptive neuron development, its expression being maintained in mature C-LTMRs (C-low-threshold mechanoreceptors) and nociceptive neurons. Despite enhanced understanding of Prdm12's role in neuronal excitability and pain behavior, the impact of Prdm12 overexpression in mature nociceptive neurons has not been explored. Here, we conducted intravenous injection of AAV-PHP.S viral vectors encoding Prdm12-GFP (Prdm12-AAV) or GFP alone (Control-AAV), observing no change in thermal or motor behavior. When examining the properties of Prdm12-overexpressing sensory neurons isolated from male mice, we observed an increase in rheobase alongside decreased neuronal responses to capsaicin and ATP, indicating a decrease in TRPV1 and P2X ion channel activity, respectively. We next conducted intraarticular administration of viral constructs in female mice to determine how overexpression in knee-innervating sensory neurons alters their excitability and influences inflammatory joint pain induced by intraarticular administration of complete Freund's adjuvant (CFA). overexpression in knee-innervating neurons decreased inflammation-induced changes in digging and weight bearing, prevented inflammation-induced neuronal hyperexcitability, and decreased macroscopic voltage-gated ion channel conductance. Our findings illustrate that Prdm12 overexpression strongly modulates neuronal excitability in adult animals, highlighting its importance in pain perception and its potential as an analgesic target. - Source: PubMed
Publication date: 2026/08/19
Dannawi MayaPattison Luke ACloake AlexanderBellefroid Eric JSmith Ewan St John - BACKGROUND: Charcot–Marie–Tooth disease and related neuropathies (CMTR) are heterogeneous inherited neuropathies with variable progression, yet data on pediatric disease progression by neurophysiological subtype are limited. We evaluated 1-year clinical and functional changes in children with CMTR and compared axonal versus demyelinating trajectories. METHODS: We conducted a prospective cohort study of 20 Thai children with CMTR who were aged 3–20 years. Participants were assessed at baseline and after 1 year using the Rasch-modified Charcot–Marie–Tooth Examination Score (CMTES-R), Charcot–Marie–Tooth Pediatric Scale (CMTPedS), manual muscle testing (MMT), Foot Posture Index, and muscle length testing. Within-subject changes in clinical outcomes over time were assessed using appropriate paired statistical tests. RESULTS: Thirteen patients had axonal forms and seven had demyelinating forms; the patients’ mean age was 13.0 ± 4.9 years. The axonal variants involved MFN2 (n = 3), GDAP1 (n = 2), and GAN, GJB1, IGHMBP2, KIF1A, PRDM12 (n = 1 each); 3 axonal variants were genetically undiagnosed. The demyelinating variants comprised MPZ (n = 2), PMP22 duplication (n = 2), EGR2 (n = 1), NEFL (n = 1), and PMP22 deletion (n = 1). At both time points, 85% of the patients were ambulatory, 15% used a wheelchair, and 65% used an ankle-foot orthosis. CMTPedS increased by 1.0 ± 3.4 points over 1 year (p = 0.271), with a larger change in axonal versus demyelinating cases (+ 1.1 ± 3.2 vs. + 0.7 ± 4.0). CMTES-R changed minimally (median + 0.5), and MMT showed stable strength. CONCLUSION: The clinical progression in pediatric CMTR was heterogeneous and differed by neurophysiological subtype, with more pronounced 1-year functional decline in axonal disease. These findings support vigilant longitudinal monitoring of pediatric CMTR, particularly where genetic testing access is limited. - Source: PubMed
Publication date: 2026/04/21
Inmongkol ChonladaVorasan NutchavadeeLimpaninlachat SivapornSereephaowong NiramonKulsirichawaroj PimchanokSanmaneechai OraneeBurns Joshua - Aggressive behavior in Muscovy ducks (Cairna moschata) has become a predominant concern in intensive farming systems, leading to reduced animal welfare and production losses. To unravel the molecular mechanisms underlying this behavior, transcriptomic profiling was performed on the hypothalamus, a key regulatory hub for aggressive responses. A total of 120 healthy 60-day-old female Muscovy ducks were continuously monitored for 24 h/day over one month using Media Recorder 2.0 software. Based on instantaneous and continuous behavioral observations, the ducks were categorized into three groups: aggressor (Experimental group I, actively attacking conspecifics), victim (Experimental group II, receiving aggression), and non-aggressive (Control group, no aggressive interactions). Hypothalamic tissues were collected from each group (n = 4 per group) for Illumina HiSeq 2000 high-throughput transcriptome sequencing. Functional annotation and enrichment analysis of differentially expressed genes (DEGs) were performed using Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) databases, followed by quantitative real-time PCR (qRT-PCR) validation. GO analysis identified 626 DEGs in the aggressor group and 649 DEGs in the victim group compared to the control group, with 26 DEGs directly involved in aggressive behavior regulation. Integration of GO and KEGG annotations revealed 69 candidate genes associated with aggressive behavior, enriched in two GO terms (behavior [GO:0007610] and sensory perception of pain [GO:0019233]) and the ERBB signaling pathway (map04012). qRT-PCR validation of 14 randomly selected candidate genes (e.g., NPY, ERBB4, MAPK9, PRDM12) confirmed that their expression patterns were consistent with transcriptomic data, verifying the reliability of the sequencing results. These findings provide novel insights into the molecular genetic basis of aggressive behavior in Muscovy ducks and lay a foundation for developing targeted strategies to mitigate aggression in intensive farming systems. - Source: PubMed
Publication date: 2026/03/18
Liu AiWang XupingZhou XuanYao BiqiongZhu JinjinRao YifuLiao FuyouYao BingnongBoonanuntan SurintornYang Shenglin