Ask about this productRelated genes to: PRDM13 antibody
- Gene:
- PRDM13 NIH gene
- Name:
- PR/SET domain 13
- Previous symbol:
- -
- Synonyms:
- PFM10
- Chromosome:
- 6q16.2
- Locus Type:
- gene with protein product
- Date approved:
- 2000-11-28
- Date modifiied:
- 2018-03-02
Related products to: PRDM13 antibody
Related articles to: PRDM13 antibody
- Multiple myeloma (MM) is a malignant plasma cell tumor. Mitochondria-related genes (MRGs) are significant inducers of ferroptosis. However, research on the involvement of mitochondria-ferroptosis-related genes (MFRGs) in the MM is relatively scarce, and further identification of key genes associated with MFRGs in MM treatment is needed. In this study, transcriptomic data and related genes were initially downloaded from public databases and literature. Subsequently, candidate genes were obtained by intersecting the differential expression genes (DEGs) from MM and control groups, and MFRGs. Through regression analyses, clinically relevant genomic signatures were delineated, culminating in the development of a predictive algorithm. An independent prognostic analysis was conducted, followed by the creation of a nomogram. Subsequently, these prognostic genes were studied from various aspects. Finally, the transcriptional abundance of predictive biomarkers was experimentally validated through reverse transcription quantitative polymerase chain reaction (RT-qPCR). The intersection of DEGs and MFRGs yielded 15 candidate genes. Then, GPR15, NLRP7, ZNF208, PRDM13, and CRIM1 were identified as prognostic genes. The prognostic model constructed using these prognostic genes was confirmed to be robust. The 2 independent prognostic factors (risk score and age) were determined, and the constructed nomogram provided an excellent predictive model. Then, risk score and activated dendritic cells were found to be significantly negatively correlated (cor = -0.43, p < 0.05). Additionally, GPR15 was positively associated with M2 macrophages (cor = 0.34, p < 0.05), while NLRP7 and PRDM13 were negatively associated with activated dendritic cells (cor = -0.34, p < 0.05; cor = -0.40, p < 0.05). There were 3 significantly different immune cells, 31 significantly immune checkpoint genes, and 11 significantly different immune checkpoints (p < 0.05). ZNF208, PRDM13, and CPIM1 were all mainly enriched in ribosome-related pathways. Finally, 86 potential drugs for the treatment of MM were discovered, such as shikonin. RT-qPCR results showed that NLRP7 and PRDM13 were significantly upregulated in MM group, while GPR15 and CRIM1 were significantly downregulated in MM group (p < 0.05). In this study, 5 MFRGs were identified as prognostic genes (GPR15, NLRP7, ZNF208, PRDM13, and CRIM1) for MM, which provide reference significance for the prognosis of MM. - Source: PubMed
Publication date: 2025/11/24
Wu JingLi ChenZhang JiayouSu JingXiao YutingJi Linhua - North Carolina Macular Dystrophy (NCMD) is a non-progressive inherited macular dystrophy characterized by marked phenotypic variability. The genetic etiology of NCMD remains largely unknown, and only a limited number of families have been reported in Europe. : We performed an in-depth investigation of an Italian family affected by NCMD using an integrated approach that combined SNP-array analysis, whole-exome sequencing, and long-read whole-genome sequencing. Additionally, we conducted a comprehensive review of NCMD-related literature. We identified a novel 98 Kb duplication involving both and genes in a three-generation kindred, where the proband exhibited severe macular alterations, while all other affected family members presented with a milder clinical phenotype. A review of the literature suggests different genotype-phenotype correlations and similar penetrance for duplications and single-nucleotide variants (SNVs) in described families. Specifically, smaller duplications may be associated with more severe phenotypes, while SNVs exhibit high phenotypic variability. : In this study, we describe the first NCMD Italian family, in which the integration of second- and third-generation sequencing methods enabled the identification of a novel pathogenic and duplication, thereby expanding the mutational spectrum of NCMD. Overall, these findings, together with the literature review, highlight the importance of selecting appropriate genetic testing approaches that allow the detection of non-coding variants and CNVs and thus enable accurate diagnosis and effective clinical management of patients and their families. - Source: PubMed
Publication date: 2025/08/05
Spedicati BeatricePasquetti DomiziaSantin AuroraZampieri StefaniaMorgan AnnaLenarduzzi StefaniaNardone Giuseppe GiovanniPaccagnella ElisaCappellani StefaniaDiplotti LauraPensiero StefanoParentin FulvioGasparini PaoloBattaglia Parodi MaurizioGirotto Giorgia - Retinal degeneration is a common cause of blindness, but there is a gap in our understanding of the molecular mechanisms causing degeneration. Dysregulated PRDM13 has been linked to retinal dystrophy, indicating a role for PRDM13 in the retina. PRDM13 knockout studies have shown that PRDM13 specifies amacrine cell fates, but no studies have shown the phenotypic and mechanistic outcomes of its elevated activity in the retina. - Source: PubMed
Nettesheim Emily RRowe Ashley AYee TiffanyAlshaikhsalama AhmedCepica TylerDutt VijayaVirani Samita SWickersham GlenMahajan Vinit BSmall Kent WWert Katherine J - Shared genetic developmental programs in which specific transcription factors affect similar cell fate decisions in distinct tissues are common. In the developing dorsal neural tube and cerebellum, PTF1A is essential for specification of GABAergic inhibitory neurons and suppression of alternative glutamatergic excitatory neuronal fates. Previous studies in the mouse dorsal neural tube identified the transcriptional repressor PRDM13 as a transcriptional target of PTF1A that functions to suppress the alternate cell fates to ensure precision in neuronal cell identity. The presence of PRDM13 in PTF1A + cerebellar progenitors suggests a similar role for PRDM13 in cerebellar neuronal specification. Cerebellar agenesis in humans with missense mutations in PRDM13, and perturbations in cerebellar development in Prdm13 mutant mice and zebrafish, confirm PRDM13 requirement in this tissue. Here we add to these findings showing additional mutant alleles in mouse Prdm13 phenocopy the perturbation in cerebellar cell fates seen with the absence of PTF1A, including loss of PAX2+ interneuron and Purkinje cell inhibitory neuronal lineages, increases in TLX3+ excitatory neuronal lineages, increased apoptosis, and reduced cerebellar size. Additional defects are seen in the placement of TBR1+ cerebellar cells. Thus, using Prdm13 mutant mice, we support conclusions that PRDM13 functions to specify balanced numbers of inhibitory and excitatory neuronal progenitors in the developing cerebellum. - Source: PubMed
Publication date: 2025/07/26
Ma Z ZackHale Michael AMona BishakhaUruena AnaJohnson Jane E - The transcriptional regulation underlying eye field (retinal primordium) development requires precise control, yet the mechanisms guiding lineage-specific differentiation within the central nervous system (CNS) remain incompletely understood. Using neuroectoderm (NE) organoids derived from mouse embryonic stem cells, we investigate the role of PRDM13 in eye field specification. We demonstrate that Prdm13 expression inhibits RX eye field fate but permits non-eye field NE differentiation, an effect that depends on its first and second zinc-finger domains. Prdm13 activates the WNT/β-catenin signaling pathway during differentiation, leading to downregulation of key transcription factors crucial for establishing the eye field. Pharmacological inhibition of WNT signaling abolishes PRDM13-mediated suppression, restoring RX eye field differentiation. Our work reveals a previously undescribed PRDM13-WNT signaling axis that regulates lineage-specific neural differentiation of embryonic stem cells. - Source: PubMed
Publication date: 2025/05/22
Basinski Brian WHuang YuanhaoLi QiangSivakumar Charukesi DCarman Tyler JPan Hana MXu JingHannum D FordLiu JieRao Rajesh C