Ask about this productRelated genes to: MAD1L1 antibody
- Gene:
- MAD1L1 NIH gene
- Name:
- mitotic arrest deficient 1 like 1
- Previous symbol:
- -
- Synonyms:
- HsMAD1, TXBP181, MAD1, PIG9, TP53I9
- Chromosome:
- 7p22.3
- Locus Type:
- gene with protein product
- Date approved:
- 1998-09-07
- Date modifiied:
- 2017-09-12
Related products to: MAD1L1 antibody
Related articles to: MAD1L1 antibody
- The biological mechanisms underlying major neuropsychiatric disorders remain largely elusive. Given the frequent association of immune dysregulation with these conditions, we used blood-derived multi-omics data from 1,274 healthy adolescents in the IMAGEN cohort to identify transdiagnostic biomarkers and mechanisms that could inform diagnosis and treatment. We first conducted genome-wide analyses to identify single nucleotide polymorphisms associated with DNA methylation and gene expression, with findings replicated in external datasets. These quantitative trait loci were further explored through Mendelian randomization analyses across 6 neuropsychiatric disorders (attention deficit hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depressive disorder, schizophrenia and insomnia), leading to the identification of 73 putatively causal CpG sites and 62 genes that were either unique to individual disorders or, as in the case of , shared among the disorders. Notably, the identified genes were significantly enriched in pathways linked to both psychiatric and autoimmune diseases, suggesting a shared genomic architecture between autoimmune and neuropsychiatric disorders. Two-step Mendelian randomization and colocalization analyses revealed potential transdiagnostic regulatory pathways, in which the expression of three genes (, and ) mediated the effects of CpG methylation on schizophrenia and insomnia. Specifically, DNA methylation at cg06770790 repressed , which was putatively causal for insomnia ( = -0.38, = 1.29 × 10) and schizophrenia ( = -0.38, = 1 × 10). Conversely, increased expression of and , driven by methylation at several CpG sites, was potentially causal for schizophrenia. Our findings highlight key molecular mechanisms and genes implicated in neuropsychiatric disorders, offering promising new targets for therapeutic intervention. - Source: PubMed
Publication date: 2026/06/05
Qian LuhengShi RunyeYu XinyangChen DiBanaschewski TobiasBokde Arun L WFlor HertaGrigis AntoineGaravan HughGowland PennyHeinz AndreasMartinot Jean-LucMartinot Marie-Laure PaillèreArtiges EricNees FraukePapadopoulos Orfanos DimitriPoustka LuiseHohmann SarahHolz NathalieSmolka Michael NVaidya NilakshiWalter HenrikWhelan RobertSchumann GunterLin XiaoleiDesrivières Sylvane - Aneuploidy accounts for over 57% of spontaneous abortions and occurs even in women of young reproductive age. Despite its major role in pregnancy loss, the genetic basis of fetal aneuploidy remains poorly characterized. This study evaluated the association of MAD1L1 and MAD2L1, two key spindle assembly checkpoint genes, with fetal aneuploidy in women younger than 36 years. Forty aborted fetuses with approved aneuploidy using array comparative genomic hybridization were enrolled in genotyping. The rs121908981 and rs121908982 pathogenic single nucleotide variants (SNVs) of exons 4 and 18 of MAD1L1 and all exons of MAD2L1 were studied in aneuploid fetuses using Sanger sequencing. Identified variants were classified based on ACMG guideline and their frequencies were compared with ethnically matched Iranome database. The effect of SNVs was predicted using the PredictSNP Webtool and Mobidetails database. No targeted pathogenic SNVs were identified in MAD1L1; however, nine other SNVs were detected. Among these, the rare Iranome variants rs1639921 and rs1481591257 were observed in the homozygous state in four and one POCs, respectively, and showed significantly different frequencies compared with Iranome (P < 0.005). The frequency of the deleterious MAD2L1 variant rs903147 did not differ from Iranome, although 15 POCs were homozygous for this variant. In addition, a novel 60-bp deletion in intron 4 of MAD1L1 was identified for the first time. Although more frequent in POCs, its frequency did not differ significantly from that in karyotypically normal controls. Collectively, the rare variants rs1639921 and rs1481591257 may be associated with aneuploidy in POCs. - Source: PubMed
Publication date: 2026/08/03
Hosseini NargesKariminejad RoxanaBoroujeni Parnaz BorjianAmiri-Yekta AmirBazrgar Masood - Undifferentiated embryonal sarcoma of the liver (UESL) is a rare, highly aggressive malignant mesenchymal tumor that predominantly affects children and typically carries a poor prognosis. We report a unique UESL case with long-term survival harboring a novel MAD1L1::ERG gene fusion. A 15-year-old female underwent segmentectomy for a 15-cm hepatic mass, without a precise diagnosis initially. From 2018 to 2025, she experienced multiple recurrences involving the liver, right kidney, and retroperitoneum. Histopathological examination across all recurrences consistently showed classic UESL features: pleomorphic spindle or polygonal cells in a myxoid stroma, frequent mitotic figures, bizarre multinucleated giant cells, and characteristic PAS-positive eosinophilic hyaline globules. Immunohistochemistry (IHC) was positive for vimentin. Targeted DNA next-generation sequencing (NGS) identified 23 genetic alterations, most notably a novel MAD1L1::ERG gene fusion (breakpoint: MAD1L1 Intron 18 and ERG Exon 13) alongside CCND2, FGFR3, MYC, SRC amplifications, and a TP53 mutation. Despite the tumor's highly aggressive behavior, the patient achieved long-term survival through repeated multi-visceral resections and systemic chemotherapy (VAC and IE). This report expands the molecular genetic profile of UESL by identifying a previously undescribed gene rearrangement. - Source: PubMed
Publication date: 2026/07/21
Yang MeiDu ZunguoTang FengFan JieHu Xiaomu - Triple-negative breast cancer (TNBC) is frequently characterized by notably elevated Ki-67 expression, a hallmark of uncontrolled rapid cell-cycle progression. However, the underlying mechanisms remain unclear, leading to limited therapeutic options. - Source: PubMed
Publication date: 2026/04/22
Liu NianqiuZhu MengdiCai ZijieWang JingruCao WeihanShi QianfengWang LinghanJiang XiaotingZhou JingLin JinnaYang WangGan HuipeiNie JianyunLiu Qiang - Cisplatin (DDP) resistance remains a major therapeutic obstacle in non-small-cell lung cancer (NSCLC). Tumor-associated macrophages (TAMs) are known to promote chemoresistance via exosomal signals, but whether exosomal long non-coding RNA NEAT1 contributes to this process is unclear. In this study, we found that exosomes derived from DDP-treated macrophages were enriched with NEAT1 and delivered it to A549 cells. This transfer enhanced the DNA damage response, promoted cell-cycle progression, and reduced DDP-induced apoptosis. Through RNA-sequencing and luciferase reporter assays, we identified MAD1L1 as a key downstream target of NEAT1. NEAT1 was enriched at the MAD1L1 promoter, upregulated its expression, and subsequently suppressed the p53/p21/Bax axis, thereby fostering a chemoresistant phenotype. , exosomal NEAT1 promoted tumor growth in DDP-treated xenografts, while NEAT1 knockdown reversed this effect and restored p53 pathway activity. Collectively, our work unveils a novel TAM-exosome-NEAT1-MAD1L1/p53 signaling axis that drives cisplatin resistance in lung adenocarcinoma, highlighting NEAT1 and its intercellular delivery as potential therapeutic targets to overcome chemoresistance. - Source: PubMed
Publication date: 2026/03/25
Yang YiMeng MinZhao YiYu FangyuanPatel HarshChen Zhe-Sheng