MAD1L1 Antibody
- Known as:
- MAD1L1 Antibody
- Catalog number:
- 32187
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Signalway
- Gene target:
- MAD1L1 Antibody
Related 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
- Although the involvement of the immune system in the genetic susceptibility of bipolar disorder (BD) is widely acknowledged, the causal relationship between gene expression in specific immune cell subtypes and BD requires systematic elucidation. - Source: PubMed
Publication date: 2026/09/12
Mo XinSun DongrenLi FangfangWang DanqiDeng YunjiaoLiao Yiwei - Small cell lung cancer (SCLC) is characterized by pervasive chromosomal instability (CIN) and remains largely refractory to targeted therapies. KIF18A, a motor protein that regulates chromosome alignment during mitosis, has emerged as a selective dependency in CIN-high tumors. Whether this dependency extends to SCLC, a prototypical CIN-high cancer, has not been established, and biomarkers predicting response to KIF18A inhibition, currently in clinical trials, are lacking. We integrated analyses of patient tumor datasets, neuroendocrine (NE) and non-NE SCLC cell lines, and functional perturbation models to define the determinants of response to KIF18A inhibition. CIN metrics, transcriptional programs, mitotic dynamics, and spindle assembly checkpoint (SAC) function were assessed using genomic profiling, live-cell imaging, genetic perturbation, and pharmacologic inhibition. KIF18A expression was elevated in SCLC tumors and correlated with CIN-associated transcriptional programs, proliferative markers, and NE status; however, these features did not predict sensitivity to KIF18A inhibition. Instead, response was determined by the functional integrity of the SAC. SAC-proficient SCLC cells underwent sustained mitotic arrest followed by apoptotic cell death upon KIF18A inhibition, whereas SAC-defective cells failed to maintain checkpoint activation and survived. Mechanistically, resistant cells exhibited impaired kinetochore recruitment of core SAC components, including MAD1L1 (MAD1) and BUB1B (BUBR1). Importantly, transient induction of acute CIN through TTK (MPS1) inhibition partially restored sensitivity to KIF18A inhibition in resistant models. This study provides the first mechanistic characterization of KIF18A dependency in SCLC, identifying SAC competency as the primary determinant of response. These findings establish a biologically informed framework for patient stratification and rational combination strategies. - Source: PubMed
Tabe ChioriKumar RajeshHuang YueKruhlak Michael JSharma Ajit KumarShrestha Roshan LThomas Anish - Behavioral problems and asthma in childhood are considered related despite the debatable causal relationship and unknown mechanisms. We investigated whether early-life behavioral problem trajectories affect the risk of childhood asthma and ascertained potential DNA-methylation mechanisms. - Source: PubMed
Yoon JisunLee Seung-HwaKim JiseonHong KyungmoLee So-YeonOh Hea YoungJung SungsuLee Da KyeongChoi Eom JiPark Ji SooShin Youn HoKim Kyung WonAhn KangmoKim JihyunShin Yee-JinLee Kyung-SookSuh Dong InHong Soo-Jong - 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