BAIAP3
- Known as:
- BAIAP3
- Catalog number:
- 002401A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- BAIAP3
Related genes to: BAIAP3
- Gene:
- BAIAP3 NIH gene
- Name:
- BAI1 associated protein 3
- Previous symbol:
- -
- Synonyms:
- BAP3, KIAA0734
- Chromosome:
- 16p13.3
- Locus Type:
- gene with protein product
- Date approved:
- 1999-02-26
- Date modifiied:
- 2016-02-02
Related products to: BAIAP3
Related articles to: BAIAP3
- ObjectivesCircadian rhythms regulate human health, and observational studies have linked their disruption to hypertension; however, confounding factors and reverse causality limit causal interpretation. We aimed to evaluate the existing evidence linking circadian gene sets and hypertension using Mendelian randomization.MethodsTwo-sample Mendelian randomization was performed using genome-wide association study summary-level data from non-overlapping European ancestry samples. Genetic variants of 1276 circadian genes () were instrumental variables; the outcome was hypertension genome-wide association study data from the UK Biobank (ieu-b-5144; 463,010 participants). Single nucleotide polymorphisms were selected at <5 × 10 (mean F-statistic: 276.5). Inverse variance weighting was the primary method used. Benjamini-Hochberg false discovery rate correction was applied across all 1276 genes. Sensitivity analyses were performed using heterogeneity testing, Mendelian randomization-Egger regression, Mendelian Randomization Pleiotropy RESidual Sum and Outlier, Steiger directionality testing, and leave-one-out analyses.ResultsMendelian randomization identified 39 nominally significant associations (inverse variance weighting, < 0.05). After false discovery rate correction, four genes reached statistical significance: (odds ratio = 0.988, 95% confidence interval: 0.983-0.993), (odds ratio = 1.009, 95% confidence interval: 1.005-1.014), (odds ratio = 0.990, 95% confidence interval: 0.986-0.995), and (odds ratio = 1.012, 95% confidence interval: 1.007-1.018). The remaining nominal associations did not survive false discovery rate correction and were classified as exploratory. Functional enrichment implicated circadian rhythm, apoptosis, and glycosaminoglycan biosynthesis pathways. Sensitivity analyses did not reveal significant heterogeneity or pleiotropy.ConclusionsThese findings are hypothesis-generating and require experimental validation. , , , and demonstrated statistically significant associations with hypertension risk after false discovery rate correction and should be prioritized for follow-up. Other nominal findings should be interpreted as exploratory. - Source: PubMed
Publication date: 2026/08/11
Wang Lu-JieLeng Yue-QiWang Wei-ZhongSun Jia-Cen - A class of retinal dystrophies known as retinitis pigmentosa (RP) is caused by the loss of photoreceptor cells. RP can be genetically transmitted as an autosomal dominant, autosomal recessive, or -linked trait. About one-third of genes implicated in retinal degeneration encode for proteins whose functional dysregulation affects the "connecting cilium" in photoreceptors, altering its structure and function. Here we report on a 33-year-old woman who was referred for clinical genetic testing following a previous diagnosis of degenerative retinopathy, which was not informative. She was enrolled in a research program dedicated to undiagnosed retinal disorders, where a whole genome sequencing approach was employed to understand the underlying genetic basis. The genomic analysis documented the occurrence of compound heterozygosity for two functionally relevant missense variants in , which encodes a protein with a well-documented role in SNARE-mediated trafficking and ciliogenesis. Confocal microscopy analysis showed elongated cilia in patient-derived and -depleted fibroblasts compared to control cells. Real-time PCR analyses showed a consistent significant reduction of mRNA levels in patient-derived and -depleted cells, both in basal conditions and after treatment with Smoothened agonist, SAG, indicating Sonic hedgehog signaling dysregulation. Collectively, these data suggest that biallelic loss-of-function variants of may cause photoreceptor degeneration and underlie isolated RP. - Source: PubMed
Publication date: 2025/08/25
Cordeddu VivianaFlex ElisabettaMignini LucaBruselles AlessandroCecchetti SerenaMessina ElenaArasi Maria BeatriceCarvetta MattiaStraface EmilioLeone AlessandroGuadagnolo DanieleD'Asdia Maria CeciliaNebbioso MarcellaBellacchio EmanueleDell'Aquila CarmenZiccardi LuciaPizzuti AntonioDe Luca AlessandroTartaglia Marco - : Changes in DNA methylation patterns are a pivotal mechanism of carcinogenesis. In some tumors, aberrant methylation precedes genetic changes, while gene expression may be more frequently modified due to methylation alterations than by mutations. : Herein, 128 serous ovarian tumors were analyzed, including borderline ovarian tumors (BOTS) with (BOT.V600E) and without (BOT) the V600E mutation, low-grade (lg), and high-grade (hg) ovarian cancers (OvCa). The methylome of the samples was profiled with Infinium MethylationEPIC microarrays. : The biggest number of differentially methylated (DM) CpGs and regions (DMRs) was found between lgOvCa and hgOvCa. By contrast, the BOT.V600E tumors had the lowest number of DM CpGs and DMRs compared to all other groups and, in relation to BOT, their genome was strongly downmethylated. Remarkably, the ten most significant DMRs, discriminating BOT from lgOvCa, encompassed the MHC region on chromosome 6. We also identified hundreds of DMRs, being of potential use as predictive biomarkers in BOTS and hgOvCa. DMRs with the best discriminative capabilities overlapped the following genes: , , , , and , , , , , , , , in BOTS and hgOvCa, respectively. : The global genome-wide hypomethylation positively correlates with the increasing aggressiveness of ovarian tumors. We also assume that the immune system may play a pivotal role in the transition from BOTS to lgOvCa. Given that the BOT.V600E tumors had the lowest number of DM CpGs and DMRs compared to all other groups, when methylome is considered, such tumors might be placed in-between BOT and OvCa. - Source: PubMed
Publication date: 2024/10/18
Szafron Laura AIwanicka-Nowicka RoksanaSobiczewski PiotrKoblowska MartaDansonka-Mieszkowska AgnieszkaKupryjanczyk JolantaSzafron Lukasz M - Limited mouth opening is a characteristic of masticatory muscle tendon-aponeurosis hyperplasia (MMTAH). Although genetic involvement is suspected where familial onset is frequently observed, the genetic background of MMTAH is yet to be elucidated. In this study, we conducted whole genome sequencing of 10 patients with MMTAH and their family members when available. We also conducted RNA sequencing of normal temporal tendon (as disease region) and Achilles tendon (as control region) from commercially available pig samples. We identified 51 genes that had rare variants in patients with MMTAH and were highly expressed in the temporal tendons of pigs. Among the 51 genes, 37 genes have not been reported to be causative for human genetic diseases so far. As an implication of genetic involvement in the pathogenesis of MMTAH, 21 of these 37 genes were identified in two independent families. In particular, and were identified in one affected individual in a family and consistently segregated in unrelated family, indicating they could be candidate causative genes of MMTAH. Our findings will help elucidate the genetic landscape of MMTAH and provide insights into future possibilities for tendon regeneration treatment. - Source: PubMed
Publication date: 2023/08/29
Tajima RinaOkazaki AtsukoSato TsuyoshiOzaki KokoroMotooka DaisukeOkazaki YasushiYoda Tetsuya - Selective serotonin reuptake inhibitors (SSRIs) are effective first line therapies for treating depression, but are plagued by undesirable side effects and are not effective in all patients. Because SSRIs effectively deplete the neuronal releasable serotonin (5-HT) pool, gaining a deeper understanding of intracellular mechanisms regulating 5-HT pools can help us understand the shortcomings of SSRIs and develop more effective therapies. In this study, we found that BAIAP3 (brain-specific angiogenesis inhibitor 1-associated protein 3) is significantly downregulated in two mouse models of depression (the IR- and CUMS-induced depressive mouse models). In BAIAP3 downregulated models ( and ), we discovered that trafficking of dense core vesicle (DCV), organelles that store, transport and release cargo via exocytosis, was reduced. Accordingly, 5-HT exocytosis and levels in the synapse were lowered, causing defective post-synaptic neurotransmission. In a screen of natural products, we identified eucalyptol, the active components of Eucalyptus, as uniquely capable of increasing neuronal Baiap3 expression and elevate synaptic 5-HT levels. Moreover, eucalyptol treatment relieved depressive behavioral symptoms and restored serotonin levels in mice. Mechanistically, eucalyptol restores Baiap3 expression by reducing inhibitory microRNAs (miR-329, miR-362). These findings illuminate how Baiap3 depletion propagates neurotransmission dysfunction and point to eucalyptol as a novel agent for restoring serotonin exocytosis, suggesting potential for developing eucalyptol as a therapy for treating depression. - Source: PubMed
Publication date: 2021/12/22
Kim HyunwooKim JeonghaLee HaksooShin EungukKang HyunkooJeon JaewanYoun BuHyun