Ask about this productRelated genes to: PRDM6 Blocking Peptide
- Gene:
- PRDM6 NIH gene
- Name:
- PR/SET domain 6
- Previous symbol:
- -
- Synonyms:
- PRISM, KMT8C
- Chromosome:
- 5q23.2
- Locus Type:
- gene with protein product
- Date approved:
- 1999-08-23
- Date modifiied:
- 2018-11-19
Related products to: PRDM6 Blocking Peptide
Related articles to: PRDM6 Blocking Peptide
- Early pregnancy loss (EPL), particularly when recurrent, represents a profoundly distressing experience for affected couples. Although chromosomal abnormalities are the most common cause of EPL, a substantial proportion of cases, especially those involving euploid embryos, remain unexplained. In this study, we investigated the potential contribution of rare monogenic variants to euploid EPL using whole-exome sequencing (WES). WES was performed on 66 euploid products of conceptions (POCs) from EPLs occurring before 12 gestational weeks. A molecular diagnosis with a high level of confidence, defined as the presence of pathogenic or likely pathogenic (P/LP) variant(s) consistent with the expected mode of inheritance, was established in 13/66 POCs (19.7%). These included one large 21q22.12-q22.3 duplication encompassing and . P/LP small variants were detected in , , , , , , , , and , representing genes with variable degrees of prior association with developmental phenotypes and, in some cases, limited or no evidence for embryonic lethality. In an additional 9/66 POCs (13.6%), findings were suggestive but not conclusive for a monogenic contribution. These included four cases with compound heterozygosity involving a pathogenic variant and a variant of uncertain significance (VUS) in autosomal recessive genes (, , , and ), as well as five cases harboring single heterozygous VUS in autosomal dominant genes (, , , , and ). The pathogenic relevance of these variants remains uncertain, particularly in the absence of functional validation. The implicated genes were clustered in biological categories: 1) genes plausibly associated with prenatal or early embryonic lethality, 2) genes causing severe congenital disorders not typically considered embryonically lethal, and 3) genes linked to later-onset or susceptibility phenotypes. These observations are consistent with a spectrum model in which highly deleterious variants may act as primary drivers of embryonic demise, whereas variants with reduced penetrance, later-onset associations or uncertain significance may contribute in a multifactorial context, potentially interacting with additional genetic, maternal or environmental factors. In conclusion, our findings suggest that monogenic variants may contribute to a subset of euploid EPL cases, although the strength of evidence varies considerably across detected variants. The integration of WES into the evaluation of recurrent euploid pregnancy loss holds promise but should be interpreted with caution. Further studies incorporating functional analyses, larger cohorts, and parental data are needed to clarify causality and to define the clinical utility of such approaches in genetic counseling, recurrence-risk assessment, and reproductive planning. - Source: PubMed
Publication date: 2026/05/14
Bozhinovski GjNoveski PTerzikj MKubelka-Sabit KPlaseska-Karanfilska D - Bicuspid aortic valve (BAV) is a frequent congenital heart defect with a high heritability. Despite this, only a limited number of genes have been associated with the disease, and the molecular mechanisms remain unexplained in most cases. This study aimed to further understand the genetic architecture of BAV. - Source: PubMed
Publication date: 2026/02/06
Thériault SébastienHoldcraft Jacob ASharipova DinaraFaucherre AdèleDebiec Radoslaw MPeloso Gina MAl-Kassou BaravanAranki SaryAshikhmina Swan ElenaBallotta AndreaBellino MicheleBjörck Hanna MBoureau Anne SophieBraund Peter SCorriveau FrançoisDagenais FrançoisFolkersen LasseForte AmaliaFrancke Michael DFrigiola AlessandroGorbatov SvetlanaGuo DongchuanHabchi Karam MHeydarpour MahyarIsselbacher Eric MJopling ChrisLaporte FabienLe Scouarnec SolenaLi ZhonglinLichtner PeterMaj CarloManikpurage Hasanga DNelson Christopher PNguyen Thy BNorris Russell AOng Chin SiangPibarot PhilippeRoychowdhury TanmoySarubbi BerardoSimonet FlorianeSundt ThoralfSurakka IdaTessler IditWiller Cristen JWittmann SusanneYang BoBerezovets IgorDoppler Stefanie ADreßen MartinaKnoll KatharinaPuehler ThomasSchunkert HeribertAvierinos Jean-FrançoisBissell Malenka MBolger Aidan PBossé YohanBossone EduardoBrion MaríaCitro Rodolfode Vincentiis CarloDeeb G MichaelDella Corte AlessandroDina ChristianDurst RonenEnsminger StephanEriksson PerEvangelista ArturoFranco-Cereceda AndersGilon DanGiusti BettiHetherington Simon LHuggins Gordon SKrane MarkusLe Tourneau ThierryLimongelli GiuseppeMathieu PatrickMessika-Zeitoun DavidMichelena Hector IMilewicz DiannaMuehlschlegel Jochen DMurdock David RNickenig GeorgNistri StefanoNöthen Markus MPluchinotta FrancescaPrakash Siddharth KSamani Nilesh JSchott Jean-JacquesWebb Tom RZaffran StéphaneAbdelilah-Seyfried SalimEagle KimSchumacher JohannesTrenkwalder TeresaBody Simon C - - Source: PubMed
Publication date: 2026/01/15
Li MinZhou YingchunCai Ming - Advances in multi-omic studies have improved medulloblastoma (MB) characterization, yet novel molecular biomarkers are needed to refine tumor biology and therapeutic strategies. Current profiling mainly targets the protein-coding genome, while the potential of noncoding regions remains unexplored. This study aims to identify long noncoding RNAs (lncRNAs), emerging as crucial regulators in MB, as potential key biomarkers specific to molecular group, enhancing understanding of MB's genomic landscape. - Source: PubMed
Publication date: 2025/09/04
Martínez de Estíbariz IvánIllarregi UnaiSinnett DanielGutiérrez-Camino AngelaLopez-Lopez ElixabetZaldumbide LauraGarcía-Ariza Laura Zaldumbide MiguelAlaña LideCallado Luis FBilbao-Aldaiturriaga NereaMartin-Guerrero Idoia - Polycystic ovary syndrome (PCOS) is a complex endocrine disorder with an unclear epigenetic basis. This study sought to identify critical methylation regulators implicated in PCOS progression and evaluate their therapeutic potential through comprehensive experimental validation. Bioinformatics analysis was performed to screen differentially expressed genes (DEGs) associated with PCOS and methylation regulators from public databases. Intersection analysis revealed PRDM6 as a key methylation regulator among 177 PCOS-related DEGs and 175 known methylation regulators. Further in silico prediction identified 16 PRDM6-correlated DEGs harboring potential post-translational modification (PTM) sites, with functional enrichment analysis linking them to the cAMP signaling pathway, notably involving RAC3, FXYD1, and SSTR2. To validate these findings, we established in vivo PCOS models using dehydroepiandrosterone-induced rats and in vitro models to mimic PCOS-associated insulin resistance using insulin-induced granulosa cells. In the rodent model, PRDM6 expression was significantly downregulated, while lentivirus-mediated PRDM6 overexpression restored serum sex hormone levels (measured by ELISA) and ameliorated ovarian histopathological abnormalities (assessed via hematoxylin-eosin staining). In vitro, PRDM6 upregulation in granulosa cells attenuated insulin-induced hyperproliferation (evaluated by CCK-8 and EdU assays) and suppressed pro-inflammatory responses (quantified by ELISA). Collectively, these results demonstrated that PRDM6 serves as a pivotal methylation regulator in PCOS pathogenesis, with therapeutic relevance in mitigating hormonal dysregulation, ovarian dysfunction, aberrant granulosa cell proliferation, and inflammation. This study provides novel insights into the epigenetic mechanisms underlying PCOS and highlights PRDM6 as a potential therapeutic target. - Source: PubMed
Publication date: 2025/10/06
Qiu MeitingQu JunjieWang JingyunZhi YunqingTeng Xiaoming