VGLL1 Antibody
- Known as:
- VGLL1 Antibody
- Catalog number:
- GWB-MV100A
- Product Quantity:
- 50ug
- Category:
- -
- Supplier:
- GenWay
- Gene target:
- VGLL1 Antibody
Related genes to: VGLL1 Antibody
- 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 Antibody
Related articles to: VGLL1 Antibody
- 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 - We report a central nervous system schwannoma, -fused in a young man's frontal lobe. Somatic abnormalities included an fusion, which incorporated the entire translated region of , but excluded most domains of . The tumor histologically merged with the brain, and showed both schwannoma-like and neuroblastoma-like areas. A germline mutation was subsequently identified, implying the patient suffered from schwannomatosis. - Source: PubMed
Publication date: 2026/01/08
Munoz David GDas SunitYoon Ju-YoonSiddaway RobertLevine AdrianAldape Kenneth D