Ask about this productRelated genes to: RARB antibody
- Gene:
- RARB NIH gene
- Name:
- retinoic acid receptor beta
- Previous symbol:
- -
- Synonyms:
- HAP, NR1B2, RRB2
- Chromosome:
- 3p24.2
- Locus Type:
- gene with protein product
- Date approved:
- 1989-05-16
- Date modifiied:
- 2017-07-07
Related products to: RARB antibody
Related articles to: RARB antibody
- Here we describe unrelated Japanese patients with distinct novel heterozygous retinoic acid receptor beta (RARB) gene variants underlying syndromic microphthalmia-12: case 1 with a frameshift variant, c.1205_1206del, had bilateral microphthalmia, corneal opacity, anterior segment dysgenesis, widespread multiorgan anomalies, hypotonia and cognitive impairment; case 2 with a missense variant, c.844G>T had Peters anomaly, extreme microphthalmia, spasticity, profound psychomotor delay and refractory epilepsy. These findings highlight the need for RARB testing. - Source: PubMed
Publication date: 2026/04/06
Koyanagi YoshitoMorikawa-Anzai HazukiYoshida TomoyoTominaga MakikoAbe YuichiKosaki RikaMatsubara KeikoFukami MakiNishina Sachiko - Clutch length is a key determinant of reproductive efficiency in geese and strongly positively correlates with egg production. We recorded daily egg production in 280 individually housed Zi geese, calculated clutch-related indices, and selected 12 geese to form long-clutch (LC) and short-clutch (SC) groups for ovarian transcriptomic, proteomic, and metabolomic analyses. The results showed that egg number, large clutch length, large clutch number, average clutch length, and average clutch number were significantly higher in LC than in SC groups (P < 0.0001). Transcriptomic analysis identified 885 differentially expressed genes enriched in oocyte development and ovarian steroidogenesis, with APOB, PLA2G4C, MMP2, MMP9, and NOBOX as key genes; proteomic analysis identified 437 differentially abundant proteins enriched in arachidonic acid metabolism and mitophagy, with CXCL12, RARB, and MAD2L1 as key proteins; and metabolomic analysis identified 35 differentially abundant metabolites enriched in glycolysis/gluconeogenesis, with lactic acid, guanidinoacetic acid, and 3-hydroxybutyrylcarnitine as key metabolites. Integration of multi-omics datasets highlighted a lactate-associated cross-omics signature supported by YWHAZ at the protein level and by the lactate transporter SLC16A3. Collectively, these findings deepen our understanding of the molecular basis underlying clutch-length variation in goose ovaries and highlight candidate genes, proteins, and metabolites for future functional validation. - Source: PubMed
Publication date: 2026/03/02
Wang HechuanLiu YunuoJiang KeYin JiaxinCong KexinMiao XinyiYang WeiranZhang YingLiu Shengjun - - Source: PubMed
Publication date: 2026/03/02
Skalski MarcinKowal-Wiśniewska EwelinaJaskiewicz-Rajewicz KatarzynaKiwerska KatarzynaBartochowska AnnaUstaszewski AdamGórecki TomaszMajchrzak-Celińska AleksandraWierzbicka MałgorzataJarmuż-Szymczak MałgorzataPaluszczak Jarosław - Genome-wide association studies have identified 1p36.23 as a schizophrenia risk locus. However, the functional variants and genes driving the association remain unknown. Here, we identified two functional variants (i.e., rs159961 and rs301792) at the 1p36.23 risk locus. Both variants reside introns of RERE and exhibit allele-specific enhancer activity. Risk alleles of rs159961 and rs301792 increase enhancer activity by altering REST and POLR2A binding, leading to RERE upregulation. Consistently, RERE was significantly elevated in brains of schizophrenia cases. Functionally, RERE-overexpression impaired neurogenesis, altered dendritic spine density and dendritic complexity, and altered genes related to dendrite development and glutamatergic synapses. Through interacting with RARB and RXRA at the Grin2a promoter, RERE regulates the well-known schizophrenia risk gene Grin2a (encodes an NMDAR subunit), and RERE-overexpression impairs excitatory synaptic transmission. Our study indicates that functional variants rs159961 and rs301792 confer schizophrenia risk by upregulating RERE, which affects neuronal development and synaptic function. - Source: PubMed
Publication date: 2026/01/24
Liu YixingWang JunyangYang HongLi YifanMu ChanggaiDang XinglunChen XinranLi DanyangLi MingnaLiu JieweiLi ShiwuYang JinfengChen XiZhang ChenFeng JinLuo Xiong-Jian - : Colorectal cancer (CRC) is a major contributor to cancer-related deaths worldwide. While existing screening tools are effective, their high cost and limited availability restrict widespread adoption, particularly in low- and middle-income settings. The identification of affordable, non-invasive biomarkers is therefore critical to improve early CRC detection and survival outcomes. : A systematic literature search was performed through PubMed, ScienceDirect, Medline, ISI Web of Knowledge, and Google Scholar to identify studies reporting stool- and blood-based biomarkers for CRC detection. Data were extracted using a standardized template, including study details, specimen type, detection method, and diagnostic performance parameters such as sensitivity and specificity. : DNA methylation biomarkers demonstrated high diagnostic potential. and achieved a combined stool sensitivity of 91.35%. Other methylation markers, including , , and , showed a composite sensitivity of 82.7%. Plasma-based methylation markers such as , , and reported sensitivities ranging from 18-47% and specificities of 93-99%. Hypermethylation of and achieved 81.3% sensitivity in CRC and precursor lesions. ( and ) were elevated in CRC patients, with stool yielding 72.2% sensitivity and 95% specificity. A stool gene panel (, , , ) reached 96.6% sensitivity and 89.7% specificity, while a methylation-based panel (, , , , , , ) achieved 90.7% sensitivity. MicroRNAs (, , , ) showed excellent diagnostic performance, with sensitivities exceeding 96% and specificities above 75%. : DNA methylation and microRNA biomarkers hold strong promises for non-invasive CRC screening. Multi-marker panels demonstrate superior diagnostic accuracy and may provide a cost-effective, scalable approach for early CRC detection in resource-limited settings. - Source: PubMed
Publication date: 2025/12/27
Hallom PumelelaNaidoo PragalathanSenzani SibusisoKader Sayed SMkhize-Kwitshana Zilungile L