VGLL1 293T Cell Transient Overexpression Lysate(Denatured)
- Known as:
- VGLL1 293T Cell Transient Overexpression Lysate(Denatured)
- Catalog number:
- H00051442-T02
- Product Quantity:
- 100 uL
- Category:
- -
- Supplier:
- Abno
- Gene target:
- VGLL1 293T Cell Transient Overexpression Lysate(Denatured)
Related genes to: VGLL1 293T Cell Transient Overexpression Lysate(Denatured)
- Gene:
- VGLL1 NIH gene
- Name:
- vestigial like family member 1
- Previous symbol:
- -
- Synonyms:
- TONDU, TDU
- Chromosome:
- Xq26.3
- Locus Type:
- gene with protein product
- Date approved:
- 2003-04-30
- Date modifiied:
- 2015-11-23
Related products to: VGLL1 293T Cell Transient Overexpression Lysate(Denatured)
Related articles to: VGLL1 293T Cell Transient Overexpression Lysate(Denatured)
- Transcriptional-enhanced associate (TEA)/transcriptional enhanced factor (TEF) domain transcription factors (TEAD1-4) regulate the transcriptional output of Hippo signaling by interacting with the coactivators Yes-associated protein (YAP) and transcriptional coactivator with PDZ-binding motif (TAZ) and play a crucial role in animal development and tumorigenesis. Much of the regulation of the TEAD-YAP/TAZ complex is through the regulation of nuclear translocation and degradation of YAP/TAZ by the upstream Hippo pathway regulators. However, TEADs undergo several posttranslational modifications, which are mostly independent of upstream Hippo pathway components. Alternative splicing of has also been reported to modulate TEAD activities posttranscriptionally. In addition, TEADs can bind to Vestigial-like (VGLL) proteins, which regulate distinct transcription programs that influence tumor growth, immunity, and development. VGLL1-3 may act as transcriptional activators or repressors, while VGLL4 functions primarily as a repressor by competing with YAP/TAZ for TEAD binding. Here, we discuss the Hippo-independent regulations and functions of TEADs, as well as the role of the TEAD-VGLL complex in development and disease, shedding light on therapeutic strategies of targeting the TEAD-VGLL complex. - Source: PubMed
Publication date: 2026/08/31
Wu XuMao Junhao - Intraparenchymal schwannomas are rare intracranial tumors confined to the brain parenchyma without connection to peripheral nerves. While conventional schwannomas are often associated with NF2 inactivation, the pathogenesis of intraparenchymal schwannomas remains poorly understood. Recent molecular studies have identified a distinct subgroup characterized by VGLL family fusions, suggesting a unique pathogenetic mechanism. Here, we report a 24-year-old woman presenting with dizziness and facial palsy who underwent resection of a brainstem tumor that showed histopathological features consistent with schwannoma. DNA methylation profiling classified the tumor as a VGLL-fused schwannoma, and RNA sequencing identified an EWSR1::VGLL1 fusion with markedly higher VGLL1 mRNA expression compared to a reference cohort of 17 vestibular schwannomas. Copy number analysis revealed loss of chromosome 19 without loss of chromosome 22q. These findings support a potential role for VGLL1 fusion in the pathogenesis of this rare tumor subtype. Importantly, this case further substantiates the emerging molecular subset of VGLL-fused intraparenchymal schwannomas and underscores the value of integrated molecular and histopathological analyses in the classification of central nervous system tumors. - Source: PubMed
Publication date: 2026/06/25
Ikemachi RyosukeInoue YoheiOtani YoshihiroKin KyoheiMizuta RyoHattori YasuhikoIzumihara KoheiHirano ShuichiroIshida JojiHigaki FumiyoHorikawa KyosukeYoshio KotaroTsuchiya TakahiroMiyawaki SatoruIchimura KoichiNobusawa SumihitoTanaka Shota - X-linked acrogigantism (X-LAG) is a rare disease that represents a severe form of pituitary gigantism characterized by early-onset growth hormone (GH), insulin-like growth factor 1 (IGF1) and prolactin excess. X-LAG is associated with duplications involving the gene GPR101 on chromosome Xq26.3. Clinically, X-LAG manifests in infancy, with a median age at onset of 18 months, presenting as rapid linear growth, acral enlargement, and large pituitary macroadenomas. While predominantly a sporadic disease affecting females through constitutional duplications, somatic mosaicism is found in sporadic male cases. Three familial cases of X-LAG have been described. Management is difficult due to the young age of affected patients and the relative resistance of GH excess to somatostatin analogs. Multimodal therapy, including neurosurgery and medical therapy such as pegvisomant, is often required to achieve hormonal control and limit final adult height. Unlike other genetic forms of pituitary tumorigenesis that are due to sequence-based mutations, X-LAG is caused by structural changes in 3D genome architecture. Specifically, microduplications on chromosome Xq26.3 disrupt a topologically associating domain (TAD) containing GPR101. This process facilitates the formation of a "neoTAD", where the GPR101 promoter is driven by ectopic enhancers, primarily an intronic enhancer located within the VGLL1 gene, leading to massive pituitary upregulation of this constitutively active receptor and GH excess. X-LAG is an example of how novel disease mechanisms can explain the molecular dysregulation behind rare and difficult to manage endocrine pathologies. - Source: PubMed
Publication date: 2026/05/07
Daly Adrian FBeckers AlbertPétrossians Patrick - X-linked acrogigantism (X-LAG) is a rare disease that represents a severe form of pituitary gigantism characterized by early-onset growth hormone (GH), insulin-like growth factor 1 (IGF1) and prolactin excess. X-LAG is associated with duplications involving the gene GPR101 on chromosome Xq26.3. Clinically, X-LAG manifests in infancy, with a median age at onset of 18 months, presenting as rapid linear growth, acral enlargement, and large pituitary macroadenomas. While predominantly a sporadic disease affecting females through constitutional duplications, somatic mosaicism is found in sporadic male cases. Three familial cases of X-LAG have been described. Management is difficult due to the young age of affected patients and the relative resistance of GH excess to somatostatin analogs. Multimodal therapy, including neurosurgery and medical therapy such as pegvisomant, is often required to achieve hormonal control and limit final adult height. Unlike other genetic forms of pituitary tumorigenesis that are due to sequence-based mutations, X-LAG is caused by structural changes in 3D genome architecture. Specifically, microduplications on chromosome Xq26.3 disrupt a topologically associating domain (TAD) containing GPR101. This process facilitates the formation of a "neoTAD", where the GPR101 promoter is driven by ectopic enhancers, primarily an intronic enhancer located within the VGLL1 gene, leading to massive pituitary upregulation of this constitutively active receptor and GH excess. X-LAG is an example of how novel disease mechanisms can explain the molecular dysregulation behind rare and difficult to manage endocrine pathologies. - Source: PubMed
Publication date: 2026/03/24
Daly Adrian FBeckers AlbertPétrossians Patrick - Structural variants (SVs) that disrupt topologically associating domains can cause disease by rewiring enhancer-promoter interactions. Duplications involving GPR101 are known to cause X-linked acrogigantism (X-LAG) through ectopic GPR101 expression, but not all of these duplications are pathogenic. This presents a diagnostic challenge, especially in the prenatal setting. We evaluated POSTRE, a tool that predicts the regulatory impact of SVs, to distinguish pathogenic from benign GPR101 duplications. We analyzed seven non-pathogenic duplications and 27 known X-LAG-associated duplications. To enable predictions in an X-LAG-relevant tissue, enhancer maps built using H3K27ac ChIP-seq, ATAC-seq, and RNA-seq data derived from human anterior pituitary samples (NIH research protocol 97-CH-0076, Clinicaltrials.gov Identifier NCT00001595, submitted on 11 March 1999) were integrated into POSTRE. POSTRE correctly classified all 34 duplications as benign or pathogenic. In addition, one X-LAG case with mild clinical features (i.e. severe growth hormone hypersecretion without pituitary tumorigenesis) was found to include only 2/5 VGLL1 enhancers, whereas all typical X-LAG cases had ≥4 enhancers duplicated. This suggests that partial enhancer hijacking at VGLL1 could explain the different clinical features in this individual. These findings support the utility of POSTRE to support diagnostic pipelines when interpreting SVs affecting chromatin architecture in pituitary disease and highlight its potential to reduce uncertainty in genetic counseling without requiring chromatin conformation capture assays. - Source: PubMed
Publication date: 2026/01/15
Trivellin GiampaoloSánchez-Gaya VíctorGrasso AlexiaPasińska MagdalenaStratakis Constantine AMilnes DiKirk Edwin PBeckers AlbertLania Andrea GPétrossians PatrickRada-Iglesias AlvaroFranke MartinDaly Adrian F