TFCP2L1 antibody - middle region (ARP32606_P050)
- Known as:
- TFCP2L1 (anti-) - middle region (ARP32606_P050)
- Catalog number:
- arp32606_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- TFCP2L1 antibody - middle region (ARP32606_P050)
Related genes to: TFCP2L1 antibody - middle region (ARP32606_P050)
- Gene:
- TFCP2L1 NIH gene
- Name:
- transcription factor CP2 like 1
- Previous symbol:
- -
- Synonyms:
- LBP-9, CRTR1
- Chromosome:
- 2q14.2
- Locus Type:
- gene with protein product
- Date approved:
- 2004-01-05
- Date modifiied:
- 2016-10-05
Related products to: TFCP2L1 antibody - middle region (ARP32606_P050)
Related articles to: TFCP2L1 antibody - middle region (ARP32606_P050)
- Systematic analysis of copy number variants (CNVs) in large datasets is challenging, and there are limited studies of homozygous copy number losses in rare disease exomes. Here, we leveraged the genomic uniqueness and relative under-representation of the Indian population in the current public genomic databases and identified 42,386 possible homozygous losses (median 20 per individual) in a heterogeneous cohort of 2021 individuals with suspected Mendelian disorders, who had undergone exome sequencing using 12 different capture kits in a resource-limited setting. Employing a genomic position loss-count-based approach, we filtered 1224 rare homozygous loss calls in 718 individuals (median 1 per individual) for further analysis, thus significantly reducing the analysis burden. Clinical correlation and validation of these rare calls enabled 10 new diagnoses in 240 unsolved individuals. This led to a two-fold increase in diagnosis owing to homozygous deletions. Further analysis of the data and identification of additional affected individuals through collaboration led to identification of biallelic FILIP1 and FAM177A1 variants as causes of a syndromic arthrogryposis and a neuromuscular disorder respectively. Both conditions were recently reported as ultra-rare recessive disorders, thus validating our approach. We also show that biallelic loss-of-function TFCP2L1 variants cause chronic kidney disease and VPS36 variants cause a severe recessive neurodevelopmental disorder characterised by microcephaly, motor delay, agenesis of the corpus callosum, cerebellar atrophy, seizures, hypotonia, spasticity and early death. Overall, these results demonstrate a scalable approach to screen homozygous losses for improving diagnostic yield and discovering disease-genes in large exome cohorts. - Source: PubMed
Publication date: 2026/06/27
Chaurasia AnkurShukla AnjuPande ShrutiPurushothama GreeshmaAshokan Akhil KanathayMajethia PurviKaur NamanpreetUpadhyai PriyankaQuadri NehaBhavani Gandham SriLakshmiNarayanan Dhanya LakshmiNayak Shalini SNampoothiri SheelaSabir Ataf HMohammed Alaa AShaw SophieHartill Verity LWatson Christopher MJohnson Colin AAlshammari AfrahFry Andrew EPoulter James ANewman William GKasher Paul RBanka SiddharthGirisha Katta M - Breast cancer is the most prevalent type of malignant tumor among women. Here, we identified transcription factor CP2-like 1 (TFCP2L1) as a suppressor of breast cancer cells. Patients with breast cancer have poorer prognoses when TFCP2L1 is expressed at low levels. Consistently, the expression of TFCP2L1 is greater in normal breast tissues and cells than in breast cancer tissues and cell lines. Gain- and loss-of-function experiments and xenograft tumor assays revealed that overexpression of TFCP2L1 significantly inhibited the proliferation and migration of breast cancer cells. Conversely, the knockdown of TFCP2L1 promoted the growth and migration of breast cancer cells. Mechanistically, TFCP2L1 suppresses breast cancer progression by inhibiting the expression of glutathione peroxidase 4 (GPX4), a key positive regulator of ferroptosis. Therefore, the addition of a ferroptosis inhibitor, Ferrostatin-1, can mediate the function of TFCP2L1 in breast cancer cells. On the other hand, high-throughput transcriptome sequencing revealed that TFCP2L1 negatively regulates the activity of the PI3K/AKT signaling pathway. The administration of SC79, an AKT activator, partially reversed the negative effects of TFCP2L1 on GPX4 transcription. Together, these findings indicate that TFCP2L1 functions partially by directly and indirectly regulating GPX4-mediated ferroptosis and may serve as a potential therapeutic target for breast cancer. - Source: PubMed
Publication date: 2026/06/26
Wang XiaoxiaoLu WeiCui YandiHe KeqiangBie YuanzhiYe Shou-DongLi Xiangfen - BACKGROUND: Fetal lung development is crucial for neonatal respiratory function, with insufficient maturation contributing to neonatal respiratory distress syndrome. While maternal vitamin D deficiency (VDD) has been linked to adverse offspring outcomes, the impact of paternal VDD on fetal lung programming remains largely unexplored. This study investigates the effects of paternal VDD on fetal lung development and maturation, aiming to provide a theoretical basis for paternal preconception nutritional intervention and highlight the importance of paternal health in offspring respiratory outcomes. METHODS: Male C57BL/6J mice were gavaged with diets containing vitamin D₃ (0 or 1000 IU kg⁻¹/d) for 90 days. Serum vitamin D concentrations were measured by liquid chromatography–tandem mass spectrometry (LC–MS/MS). Treated males were then mated with females to generate offspring. Mating outcomes were recorded to assess reproductive success. Fetal lungs were collected at embryonic days 15.5–17.5 for H&E staining, morphometric analysis. Interrogation of a publicly available single-cell RNA sequencing (scRNA-seq) dataset delineated cell-type-specific marker gene signatures and prioritized candidate transcription factors, whose expression patterns were subsequently validated in offspring under paternal VDD conditions by quantitative real-time PCR, Western blotting, and multiplexed fluorescence immunohistochemistry. RESULTS: In mice, paternal VDD did not significantly affect mating success or pregnancy establishment. However, paternal VDD led to fetal lung dysplasia, accompanied by reduced lung weight and distal alveolar expansion. Alveolar type I (AT1) and type II (AT2) markers were markedly downregulated, reflecting delayed distal epithelial maturation. Guided by analysis of a publicly available scRNA-seq dataset, Tfcp2l1 was prioritized as a candidate transcription factor. Subsequent experimental validation revealed its predominant localization to AT1 and AT2 cells, with downregulation associated with decreased AT2 proliferation, a concomitant reduction in AT1 abundance, and limited AT1 expansion. CONCLUSIONS: Paternal VDD is associated with altered fetal lung development, characterized by reduced lineage specification of distal alveolar epithelial cells (AT1 and AT2) and diminished alveolar sacculation. The transcription factor Tfcp2l1 may be involved in this process, with its downregulation under paternal VDD correlating with reduced AT2 cell proliferation and decreased AT2-to-AT1 differentiation, ultimately relating to insufficient pulmonary maturation. - Source: PubMed
Publication date: 2026/04/27
Huang ZhongenGong XiaohuiTian MeiSun GuoyingLi Jian - The Fukushima nuclear accident highlighted that evacuation-related psychosocial harm can outweigh direct radiation risks, underscoring the need to define the health impacts of chronic low-dose-rate (LDR) radiation and evidence-based thresholds for intervention. This study investigated the effects of continuous, postnatal LDR gamma irradiation (1.2 mGy/h, cumulative dose: 5 Gy) in male mice. While no changes in body weight, hippocampal neurogenesis, or major glial and neuronal populations were observed, persistent DNA damage (γ-H2AX foci) in dentate gyrus granule cells occurred in both irradiated male and female mice. Irradiated male mice developed anxiety-like behaviour, a phenotype not observed in a previously published study of female mice subjected to an identical irradiation protocol. Molecular profiling revealed two novel, dysregulated miRNA/mRNA axes in the hippocampus linking DNA damage to behaviour: a maladaptive miR-466i-5p/Tfcp2l1 pathway associated with genomic instability, and a potentially adaptive miR-101a-5p/BMP6 pathway promoting neuronal survival. Venn analysis further identified miR-124b-3p and novel-miR489-3p as conserved exposure biomarkers, altered in both the hippocampus and blood of irradiated animals. Our results show that a high cumulative dose of chronic LDR induces markedly less severe hippocampal pathology than has been reported for equivalent acute doses. These findings support the concept of dose-rate-dependent threshold dose and contribute to the evidence base for developing countermeasures following nuclear incidents or other radiation exposures. - Source: PubMed
Publication date: 2026/04/17
Tang Feng RuWang HongLau SalihahTan Amanda - The adenohypophyseal placode is a developmental structure that is conserved among vertebrates and gives rise to the anterior pituitary. The earliest steps of its formation remain poorly understood. Here, we present a powerful new genetic tool: a zebrafish GAL4 knock-in reporter line for prop1. The targeted integration disrupts prop1 function, generating the first prop1-/- zebrafish, which exhibits dwarfism, impaired sexual maturation, and pigmentation defects. The generation of this new reporter line enabled the study of early pituitary development at single-cell resolution, using both scRNA-seq and live imaging. We identified epcam/Epcam as a conserved epithelial marker of the adenohypophysis in both zebrafish and mouse. We further studied transcriptional programs underlying endocrine lineage specification, discovering several previously unrecognized markers for hormone-producing lineages, including tfcp2l1, as a likely regulator of lactotrope differentiation. Cell-cell interaction analyses indicated Notch, Fgf, and Slit/Robo signaling as key regulators of progenitor maintenance and differentiation. Overall, this work provides the first single-cell atlas of early zebrafish pituitary development, a robust new genetic tool to study fundamental mechanistic insights into pituitary lineage specification and differentiation. - Source: PubMed
Martinez-Mayer JulianBalakrishnan MridulaCheung Leonard YGünther StefanMedan VioletaStainier Didier Y RPerez-Millan Maria Ines