Ask about this productRelated genes to: HOXD13 antibody
- Gene:
- HOXD13 NIH gene
- Name:
- homeobox D13
- Previous symbol:
- HOX4I, SPD
- Synonyms:
- -
- Chromosome:
- 2q31.1
- Locus Type:
- gene with protein product
- Date approved:
- 1991-05-08
- Date modifiied:
- 2015-08-25
Related products to: HOXD13 antibody
Related articles to: HOXD13 antibody
- Myelodysplastic neoplasms (MDS) are a group of heterogeneous clonal hematopoietic disorders with a high risk of progression to acute myeloid leukemia. Despite folic acid being an essential vitamin for human development that can be harmful at high levels, it is still unclear how its excess precisely impacts erythropoiesis in MDS patients. Based on non-targeted metabolomics, we identified significantly elevated folic acid levels in both MDS mice and MDS patients. Functional studies revealed that an excess folic acid diet exacerbated anemia in MDS mice, while restricted folic acid intake alleviated disease phenotypes. Mechanistically, excess folic acid promotes the nuclear translocation of FOLR2, which functions as a transcription factor to bind the promoter of IRF2BP2 and drive its expression. Upregulated IRF2BP2 subsequently represses key erythroid transcription factors GATA1 and KLF1, leading to erythroid differentiation arrest. The folic acid-FOLR2-IRF2BP2 axis is upregulated, and high IRF2BP2 expression correlates with poor prognosis in MDS patients. Our study unveils a novel pathological role of folic acid in promoting MDS progression by disrupting hematopoietic stem/progenitor cells and impairing erythropoiesis, suggesting dietary folic acid restriction and targeting FOLR2-IRF2BP2 axis as potential therapeutic strategies. The FOLR2-IRF2BP2 Axis Mediates Erythropoiesis Impairment by Excess Folic Acid in Myelodysplastic Syndromes. In NUP98-HOXD13 transgenic/MDS mice, folic acid content was significantly increased. Excess folic acid diet exacerbated disease symptoms in MDS mice. Reducing folic acid intake significantly alleviated MDS symptoms. Mechanistically, excess folic acid not only promoted the expansion of hematopoietic stem progenitor cells but also disrupted erythropoiesis involving the FOLR2-IRF2BP2 pathway. - Source: PubMed
Publication date: 2026/08/10
Yang ChaoyingWang YanpengPeng YuanliangWang ZeyuanGuo ZhimingXiao XiaojuanLi HaoboGong HanHu BinLiu LiFu MinCao PengfeiYang XiongbingLiu JingNie LingHan XuZhang Ji - Some patients with familial Synpolydactyly Type I have severe flexion deformities of the hands and feet at the metacarpophalangeal and the metatarsophalangeal joints, and the resulting deformity has been named "cupping" of the hands and feet. Severe "cupping" requiring surgical correction has not been previously reported. We explore the embryology and pathogenesis of the phenotype and present the surgical technique and results after the correction of the cupping deformity in a case series of 3 children. - Source: PubMed
Publication date: 2026/08/03
Alsayegh Samir OAlghamdi Abdullah MAl-Qattan Mohammad M - Prostate cancer (PCa) exhibits marked biological heterogeneity, complicating accurate identification of aggressive disease at initial diagnosis. This study investigated whether circulating tumour DNA (ctDNA) methylation markers enhance detection and risk stratification across the PCa disease continuum. Plasma samples from the initial hospital visit were obtained from 280 participants in the PerPros prostate biobank (Vejle, Denmark), all referred with suspected PCa. Following diagnostic work-up, participants were classified across the PCa disease spectrum or as biopsy-confirmed PCa-free controls. Five methylated CpG regions (, , , , ) were analysed using multiplex ddPCR. Performance was assessed using ROC analysis and logistic regression and compared with prostate-specific antigen (PSA). Methylation markers were detectable across the PCa disease spectrum, most frequently in metastatic castration-sensitive PCa (mCSPC) (85/97; 88%). The ctDNA methylation panel discriminated mCSPC from controls with an AUC (area under the curve) of 0.88 (95% CI: 0.83-0.93). In this cohort, combining PSA (cut-off 20 µg/L) with the ctDNA methylation panel significantly improved discrimination between patients with mCSPC and locally advanced PCa compared with PSA alone (AUC 0.88; 95% CI 0.83-0.94; < 0.001) vs. 0.78 (95% CI 0.71-0.84). In contrast, discrimination between localised/locally advanced PCa and patients with biopsy-confirmed controls was limited (AUC 0.56; 95% CI: 0.51-0.61). The ctDNA methylation panel demonstrates robust identification of metastatic PCa and can effectively differentiate mCSPC from locally advanced PCa. However, its diagnostic abilities in localised disease appear limited. - Source: PubMed
Publication date: 2026/07/07
Eriksen Stine VZedan Ahmed HKahns SørenOsther Palle J STimm SigneHansen Torben F - Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal hematopoietic disorders characterized by ineffective hematopoiesis, cytopenias, and an increased risk of progression to acute myeloid leukemia (AML). Despite advances in supportive and targeted therapies, disease-modifying interventions remain limited. Iron overload is increasingly recognized as a key driver of disease progression, amplifying oxidative stress and inflammation while impairing hematopoietic function. However, the mechanisms by which sustained iron excess contributes to disease evolution remain poorly understood. Hepcidin, the master regulator of systemic iron homeostasis, is produced by hepatocytes in response to iron and inflammatory cues and is negatively regulated by transmembrane protease serine 6 (TMPRSS6). Targeting TMPRSS6 to increase endogenous hepcidin offers a promising strategy to restrict iron overload and its inflammatory consequences. Here, we investigated hepatocyte-targeted silencing of Tmprss6 using a GalNAc-conjugated siRNA (SLN124) in the NUP98-HOXD13 (NHD13) mouse model of MDS. MDS and wild-type mice received monthly subcutaneous SLN124 (3 mg/kg) or oral deferiprone (1.25 mg/mL). Iron burden in MDS mice strongly correlated with ASC-speck formation in CD45 hematopoietic cells, consistent with inflammasome activation. Both SLN124 and deferiprone reduced tissue iron deposition and ASC-speck abundance, with SLN124 producing the most pronounced effect. Long-term SLN124 treatment delayed disease progression and significantly prolonged survival, with 30% of treated mice surviving beyond 450 days compared with complete mortality by Day 420 in controls and deferiprone-treated mice. These findings demonstrate that Tmprss6 inhibition via SLN124 suppresses iron-driven inflammation, and mitigated disease progression in MDS mice, establishing TMPRSS6 silencing as a promising disease-modifying therapeutic approach. - Source: PubMed
Publication date: 2026/06/04
Vilcassim ShahlaPholngam NuttananThubthed RattanawanNualkaew TiwapornSvasti SaovarosChaichompoo PornthipKysenius KaiCrouch Peter JDames SibylleEisermann MonaMartinez AlbertoSchaeper UteVadolas JimGrigoriadis George - While previous studies have indicated that H3K36me3, which is mediated by Setd2, may regulate the cell fate of mesenchymal stem cells (MSCs) both in vitro and in vivo, the specific role of MSCs in the onset and progression of MDS remains unclear. Thus, the histone methyltransferase Setd2 is implicated in MDS-associated leukemia. This study utilized NUP98-HOXD13 (NHD13) mice with targeted deletion of Setd2 in MSCs. Here, we found that Setd2-deficient mice undergo faster leukemia transformation than control mice do, as evidenced by the abnormal differentiation of hematopoietic stem progenitor cells in the bone marrow, abnormal hematopoiesis, and increased number of blast cells. Compared with that of control mice, the morphology of NHD13 mouse MSCs with Setd2 deficiency was irregular, and the support function of hematopoietic cells was compromised. This study demonstrated that targeted deletion of Setd2 in MSCs facilitates the advancement of MDS. Furthermore, we identified increased expression of coagulation factor XII as a key leukemic transformation mediator in Setd2-deficient MSCs. Moreover, we found that SETD2 expression is significantly lower in high-risk MDS patients than in low-risk MDS patients, further suggesting that the targeted deletion of Setd2 in MSCs is associated with MDS progression. Collectively, our results suggest that Setd2 in MSCs suppresses MDS progression to leukemia through coagulation factor XII-mediated suppression of the stem cell support capacity of MSCs. Overall, this study sheds light on the pathogenesis of MDS and provides a therapeutic strategy for regulating the microenvironment in patients with MDS who cannot be cured by haematopoietic stem cell transplantation. - Source: PubMed
Publication date: 2026/04/30
Wang Rou-JiaLi Zi-JuanChen Bing-YiGuo JuanTao YingLi Hong-PingFei Ming-YueChang Bin-HeZhao Mu-YingShi LeiZhao Si-DaZhang ZhengSu Ji-YingSong Lu-XiHe QiWu DongWu Ling-YunZhang Jia-YingZong Li-JuanSun Xiao-JianZhao You-ShanWang LanChang Chun-Kang