Ask about this productRelated genes to: GTF2IRD1 antibody
- Gene:
- GTF2IRD1 NIH gene
- Name:
- GTF2I repeat domain containing 1
- Previous symbol:
- WBSCR11
- Synonyms:
- MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1
- Chromosome:
- 7q11.23
- Locus Type:
- gene with protein product
- Date approved:
- 1998-11-06
- Date modifiied:
- 2014-11-18
Related products to: GTF2IRD1 antibody
Related articles to: GTF2IRD1 antibody
- Williams syndrome (WS; OMIM #194,050) is a multisystem pediatric genetic disorder caused by a heterozygous microdeletion of a 1.5-1.8 Mb region at chromosome 7q11.23, encompassing 26 to 28 genes. Clinical hallmarks include cardiovascular anomalies, distinctive craniofacial morphology and neurodevelopmental deficits characterized by hypersociability, cognitive impairment and anxiety. Although causative therapies for WS still remain elusive, advances in gene editing and forebrain organoids have already greatly furthered our understanding of the underlying mechanisms. - Source: PubMed
Publication date: 2026/03/17
Chen Ya-YueChen Wei-JunZhang RuiJi ChaiZhang Yu-HanMa Da-QingShi Qiao-JuanXie Yi-Cheng - Williams syndrome is a developmental disorder caused by a microdeletion entailing the loss of a single copy of 25-27 genes on chromosome 7q11.23. Patients suffer from cardiovascular and neuropsychological symptoms. Structural abnormalities of the cardiovascular system in Williams syndrome have been attributed to the hemizygous loss of the elastin () gene. In contrast, the neuropsychological consequences of Williams syndrome, including sensorimotor deficits, hypersociability, and cognitive impairments, have been mainly attributed to altered expression of transcription factors, like , , and , while the potential impact of altered cerebrovascular function has been largely overlooked. To study the relationship between Williams syndrome mutations and vascularization of both the heart and brain, we generated a mouse model carrying a relatively long microdeletion Del(5-). Heterozygous Del(5-) mice had elongated and tortuous aortas but, unlike haploinsufficient mice, showed no signs of structural cardiac hypertrophy. Remarkably, we also observed structural abnormalities in coronary and brain vessels, including disorganized extracellular matrices. Importantly, the mutant mice faithfully replicated both cardiovascular and neuropsychological symptoms observed in patients. The phenotype was even more comprehensive than in former models, with structure-function correlations evident in aberrant auditory and motor behaviors resembling those in patients with Williams syndrome. Together, our findings suggest that not only cardiovascular but also neuropsychological symptoms in Williams syndrome may be driven in part by vascular abnormalities affecting both heart and brain. - Source: PubMed
Publication date: 2025/11/11
Bosman Laurens W JEl Azzouzi HamidKros LiekeRidwan Yantovan Vliet NicoleDijkhuizen StéphanieGoedknegt ErikaGenerowicz Bastian SSierksma Martijn CJaarsma DickNovello ManueleSnoeren MorrisenKretschmann EmmaBroere DaniqueCaliandro RoccoKoekkoek Sebastiaan K EKruizinga Pietervan Dis VeraZhou HaiboYang HuiZhou Changyangvan der Pluijm IngridEssers JeroenDe Zeeuw Chris I - Colorectal cancer is a highly lethal gastrointestinal tract malignancy whose pathogenesis and molecular drivers are not fully understood. This study focused on searching for genes that are differentially expressed in cancer versus normal mucosa, with the goal of identifying molecular patterns of expression that are mechanistically linked to colorectal cancer pathogenesis. We analyzed 585 colorectal cancer samples and 329 normal samples from the Gene Expression Omnibus database, creating a weighted gene coexpression network analysis across 24,069 genes. Through this approach, five modules associated with colorectal cancer were identified, which were enriched in MAPK signaling and cholesterol metabolism pathways. Using least absolute shrinkage and selection operator (LASSO) regression, we selected 13 hub genes [ABCB5, AOC1, ARHGAP44, CACNG3, dysbindin domain-containing protein 1 (DBNDD1), GAS7, GTF2IRD1, PRSS22, SCN4A, TTC22, DLX6, PDK4, and SLC13A2] from these modules. Survival analysis indicated that higher expression of DBNDD1 correlated with worse overall survival in patients with colorectal cancer. Machine learning validation confirmed the stability of these genetic markers. Experimental validation demonstrated increased levels of DBNDD1 and growth differentiation factor 15 (GDF15) in colorectal cancer, promoting constant NF-κB (RELA) activation via DBNDD1-dependent GDF15 induction. Knocking down DBNDD1 inhibited cell proliferation, migration, and invasion in vitro (DLD1/HCT116 cells), alongside decreased GDF15 expression and reduced p-NF-κB p65-p-I-κB signaling. Additionally, DBNDD1 knockdown resulted in reduced tumor growth in vivo, highlighting that the DBNDD1-GDF15-NF-κB signaling pathway drives colorectal cancer pathogenesis. - Source: PubMed
Qi XiaominBai CaijuanDong LiWang AnqiWei ChaojunLi YonghongZhao MengyuanYou Chongge - Uterine corpus endometrial carcinoma (UCEC) is a common gynecologic malignancy with poor prognosis in advanced stages. Circular RNA (circRNA) and exosomes have been documented as significant contributors to the advancement of tumor cells, but the specific regulatory mechanisms between them is unclear. Therefore, our study attempts to explore the mechanism between them. - Source: PubMed
Publication date: 2025/09/10
Li YueyingLiu YaFeng JialuDu JuanTian WenyanZhang Liping - Williams syndrome (WS) is a rare genetic neurodevelopmental disorder caused by microdeletion of a critical region on chromosome 7q11.23. At the cognitive level, it is usually characterized by moderate intellectual disability and deficits in visuospatial skills, while showing relative strengths in verbal skills and nonverbal reasoning. Despite their apparent good performance with verbal skills, previous studies have suggested that the structure of semantic memory may be altered in people diagnosed with WS. In this study, we explored the organization of semantic memory in WS through the Deese-Roediger-McDermott (DRM) paradigm, a task in which participants are induced to produce false memories through semantic associations. 24 participants with WS and 24 controls matched for gender and verbal mental age participated in the study. Results showed that the WS group, compared to the control group, had less false memories of critical lures, and made associations with words less related to the items studied. Taken together, these results suggest that semantic memory organization may be atypical in WS. We discuss how certain genes usually associated with the WS cognitive phenotype, GTF2I and GTF2IRD1, might modulate the development of brain areas responsible for semantic processing, ultimately producing atypical associations between words in the semantic networks of the mental lexicon. - Source: PubMed
Publication date: 2025/02/28
Romero-Rivas CarlosSabater LucíaRodríguez Gómez PabloHidalgo de la Guía IreneRodríguez-Cuadrado SaraMoreno Eva MGarayzábal Heinze Elena