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
- Homeobox (HOX) transcription factors establish positional identity along the embryonic body axis, yet their functional roles in adult tissues remain poorly understood. - Source: PubMed
Publication date: 2026/09/23
Mirrahimi MasoumehKlein KerstinCebrián Camino CalvoKhmelevskaya AlexandraHoutman MirandaEzen EgeSaadat Mohammd HosseinVogetseder AlexanderRetamosa Eva CamarilloRothenfluh EsinWang JingyiHajdari LoraBerli MartinRauer ThomasCatanzaro SabrinaAndersson JohanDistler OliverOspelt Caroline - 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