Ask about this productRelated genes to: BAZ1B antibody
- Gene:
- BAZ1B NIH gene
- Name:
- bromodomain adjacent to zinc finger domain 1B
- Previous symbol:
- WBSCR9, WBSCR10
- Synonyms:
- WSTF
- Chromosome:
- 7q11.23
- Locus Type:
- gene with protein product
- Date approved:
- 1999-01-21
- Date modifiied:
- 2015-11-13
Related products to: BAZ1B antibody
Related articles to: BAZ1B antibody
- : Tracheobronchopathia osteochondroplastica (TO) is a rare benign disorder characterized by submucosal cartilaginous and osseous nodules of the tracheobronchial tree, typically sparing the posterior membranous wall. Involvement of the vocal cords is exceedingly rare and may result in critical airway obstruction. The underlying genetic and molecular mechanisms of TO remain largely unexplored. : We report a rare case of TO extending from the vocal cords to the bronchi in a 76-year-old man who initially presented with pneumonia and later developed acute respiratory failure due to severe airway narrowing, necessitating emergency tracheostomy. Bronchoscopy and computed tomography revealed diffuse calcified nodules involving the anterior and lateral airway walls, including the subglottic region. Histopathology demonstrated chronic inflammatory cell infiltration with squamous metaplasia. To explore the molecular basis of this condition, whole-genome sequencing (WGS) was performed using peripheral blood samples-the first such application in TO. WGS identified 766 germline mutations (including 27 high-impact variants) and 66 structural variations. Candidate genes were implicated in coagulation and inflammation (), arachidonic acid metabolism and extracellular matrix remodeling (), ciliary dysfunction and mineralization (), vascular calcification (), smooth muscle function (), abnormal calcification (), fibrotic signaling (), and mucosal barrier integrity (). Notably, despite systemic germline mutations, calcification was restricted to the airway. : This case highlights that TO with vocal cord involvement can progress beyond a benign course to cause life-threatening airway obstruction. Integrating clinical, histological, and genomic findings, we propose a novel pathophysiological model in which systemic genetic susceptibility interacts with local immune cell infiltration and fibroblast-driven extracellular matrix remodeling, resulting in airway-restricted dystrophic calcification. This first genomic characterization of TO provides new insights into its pathogenesis and suggests that multi-omics approaches may enable future precision medicine strategies for this rare airway disease. - Source: PubMed
Publication date: 2026/01/09
Park YeonheeLee Joo-EunLim Mi JungKang Hyeong SeokChung Chaeuk - The ability to discriminate sets of items based on their numerosity is alleged to be an evolutionary conserved mechanism in all vertebrates. People with Williams syndrome (WS), a rare multigenic condition, show altered number and quantity cognition abilities. Assessing the contribution of specific genes to WS using animal models could help understand the basis of numerical impairments. Here, we assessed the quantitative abilities of juvenile zebrafish (Danio rerio) with loss of function of two of the genes affected in WS using a group size preference behavioural assay. The selected genes were: baz1b, implicated in neural crest development; and fzd9b, associated with neuronal functioning. The contrasts studied were 2 versus 5, 2 versus 4 and 2 versus 3. While group-level comparisons did not reveal statistically significant genotype differences, single-sample tests suggested a reduced preference for larger shoals in some contrasts among mutants. These trends were more apparent when the total number of items likely exceeded working memory capacity (i.e., 6 or more items), while performance on small numerosity contrasts remained relatively intact. These data agree with previous analyses of humans with WS and offer preliminary evidence that specific genes may influence quantity discrimination. Our research also supports the use of zebrafish as model organisms in which to characterise the neurobiological basis of dyscalculia in WS and associated disorders. - Source: PubMed
Publication date: 2025/10/01
Torres-Pérez Jose VicenteAnagianni SofiaSheardown EvaMiletto-Petrazzini Maria ElenaFraser Scott EButterworth BrianVallortigara GiorgioBrennan Caroline H - Circular RNAs (circRNAs) have been implicated in myocardial ischemia (MI)/reperfusion injury (RI), yet their essential roles in MI/RI-induced ferroptosis have not been fully elucidated. Here, we focused on the biological function and regulatory mechanism of circBAZ1B, a circRNA derived from the bromodomain adjacent to the zinc finger domain 1B (BAZ1B) gene, in MI/RI progression. - Source: PubMed
Publication date: 2024/05/28
Wei RuiliYang TianxiaoLi WeihongWang Xiqian - Low-grade glioma (LGG) is a slow-growing but invasive tumor that affects brain function. Histone deacetylases (HDACs) play a critical role in gene regulation and tumor progression. This study aims to develop a prognostic model based on HDAC-related genes to aid in risk stratification and predict therapeutic responses. - Source: PubMed
Publication date: 2024/12/23
Wen KeshanZhu WeijieLuo ZiyiWang Wei - Mono-ubiquitinated PCNA (mono-Ub-PCNA) is generated when replication forks encounter obstacles, enabling the bypass of DNA lesions. After resolving stalled forks, Ub-PCNA must be de-ubiquitinated to resume high-fidelity DNA synthesis. ATAD5, in cooperation with the UAF1-USP1 complex, is responsible for this de-ubiquitination. However, the precise regulation of timely Ub-PCNA de-ubiquitination remains unclear. Our research reveals that BAZ1B, a regulatory subunit of the BAZ1B-SMARCA5 chromatin-remodeling complex (also known as the WICH complex), plays a crucial role in fine-tuning the de-ubiquitination process of Ub-PCNA. The BAZ1B binding region of ATAD5 encompasses the UAF1-binding domain of ATAD5. Disruption of the ATAD5-BAZ1B interaction results in premature de-ubiquitination of Ub-PCNA following treatment with hydrogen peroxide. Cells with impaired BAZ1B binding to ATAD5 display increased sensitivity to oxidative stress compared to wild-type cells. These findings suggest that BAZ1B prevents premature Ub-PCNA de-ubiquitination, thereby safeguarding genome integrity. - Source: PubMed
Publication date: 2024/12/03
Kim YeongjaeHa Na YoungKang Mi-SunRyu EunjinYi GeunilYoo JuyeongKang NalaeKim Byung-GyuMyung KyungjaeKang Sukhyun