Robo3 (mouse)
- Known as:
- Robo3 (mouse)
- Catalog number:
- Y213688
- Product Quantity:
- 200ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- Robo3 (mouse)
Related genes to: Robo3 (mouse)
- Gene:
- ROBO3 NIH gene
- Name:
- roundabout guidance receptor 3
- Previous symbol:
- HGPPS
- Synonyms:
- RBIG1, FLJ21044, HGPS
- Chromosome:
- 11q24.2
- Locus Type:
- gene with protein product
- Date approved:
- 2004-05-10
- Date modifiied:
- 2018-11-19
Related products to: Robo3 (mouse)
Related articles to: Robo3 (mouse)
- Olfactory sensory neurons (OSNs) project a single axon from the olfactory epithelium to the olfactory bulb. OSNs initially target large, distinct, individually identifiable neuropils called protoglomeruli in the zebrafish embryo. Here we examine the contributions Robo axonal guidance receptors make to OSN axon targeting of protoglomeruli. We show that OSNs that project to the DZ protoglomerulus express higher levels of than those that project to the CZ protoglomerulus, and concordant with this observation, DZ-projecting axons are more often misrouted by loss of than are CZ-projecting axons. Further, we demonstrate that in the absence of , contributes to DZ-targeting but not to CZ-targeting. The loss of either or by themselves do not affect targeting to either the CZ or DZ protoglomeruli. These findings identify OSN subtype-dependent contributions of Robo receptors to vertebrate olfactory circuit assembly. In the absence of repellent Slit/Robo signaling, we propose that Netrin1b steers OSN axons to ectopic ventral midline locations where Slit1a and Netrin1b are both expressed. - Source: PubMed
Publication date: 2026/03/20
Herr Jessica BDevereaux Emily SCurran Matthew JSeligman Carly DCheng Ryan PBarnes Daniel TRaper Jonathan A - Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare autosomal recessive disorder caused by biallelic ROBO3 variants, characterized by congenital horizontal gaze restriction, early-onset scoliosis, and distinctive hindbrain malformations. We report two pediatric Patients and integrate current evidence to expand the ROBO3 variant spectrum and refine phenotypic delineation. Detailed clinical evaluation was combined with whole-spine radiography and high-resolution brain MRI with diffusion tensor imaging. Trio-based exome sequencing identified three ROBO3 variants, interpreted according to ACMG/AMP criteria. A novel splice-region variant was evaluated using SpliceAI and Pangolin, while AlphaFold2 modeling and ThermoMPNN, DDMut, SIFT, PolyPhen-2, and ClinPred were used to assess a missense variant affecting the Ig-like domain. Both patients exhibited congenital horizontal gaze palsy, early-onset scoliosis, and the characteristic HGPPS hindbrain triad. Patient #1 carried compound heterozygous variants p.(Arg703Pro) and c.2073+4A > G, while Patient #2 harbored the homozygous p.(Arg245Trp) variant. Literature review confirmed a uniform neuroimaging signature despite variable clinical severity. These findings expand the molecular landscape of HGPPS and underscore the importance of early neuroimaging recognition and orthopedic surveillance in the absence of robust genotype-phenotype correlations. - Source: PubMed
Publication date: 2026/03/23
Shams Nosrati Mohammad SadeghRomano FerruccioDostmohammadi AlirezaTraverso MonicaNemati Amir HesamMadia FrancescaDe Marco PatriziaDoustmohammadi MortezaIacomino MicheleTavassol Zahra HoseiniBoogari MahsaKhorasanian ReihanehOmrani Mir DavoodZara FedericoScala MarcelloCapra Valeria - Congenital cranial dysinnervation disorders (CCDDs) are a group of rare, nonprogressive conditions characterized by abnormal development of the cranial motor nerves and variable ocular motility deficits, ptosis, incomitant strabismus, and facial palsy. Advances in genetics and neuroimaging have revealed that these disorders result from defects in neuronal differentiation or axon guidance of the cranial motor neurons. Duane retraction syndrome, the most common CCDD, results from the absence of the abducens nerve and innervation of the lateral rectus by oculomotor nerve axons; causative genes include CHN1, MAFB, HOXA1, SALL4, and EBF3, although most cases do not have a genetic diagnosis. Congenital fibrosis of the extraocular muscles (CFEOM), results from variants in KIF21A, PHOX2A, TUBB3, or other tubulin genes, and affects the oculomotor and trochlear nerves. Horizontal gaze palsy with progressive scoliosis (HGPPS), caused by ROBO3 loss of function, arises from failure of axonal midline crossing in the brainstem. Moebius syndrome, defined by abducens and facial nerve palsies, has no identified genetic cause and may result from non-Mendelian causes. Additional CCDDs with atypical or syndromic presentations are linked to COL25A1, ECEL1, and ACKR3, although many do not have a genetic explanation. The expanding list of CCDD-associated genes highlights shared developmental pathways, including neuronal differentiation, axon guidance, and microtubule dynamics. Improved genetic diagnosis informs prognosis and multidisciplinary management. This review synthesizes current understanding of CCDDs, emphasizing the shift from phenotypic classification to molecular subtyping, and underscores the importance of ongoing research to resolve genetically unsolved cases and refine diagnostic and therapeutic strategies. - Source: PubMed
Publication date: 2026/03/23
Aufderheide KathleenWhitman Mary C - - Source: PubMed
Publication date: 2026/03/09
Khalil Isra ZaraWaheed SannaLakhani NeetaSabir Ataf - This study aims to investigate the effect of Viola tianshanica Maxim. extract(VTME) on the innate immune response in mice infected with influenza A virus. Mice were randomly divided into a control group, a virus-infected group, an oseltamivir group, and low-, medium-, and high-dose VTME groups, with 10 mice in each group. The model of influenza pneumonia in mice was established via nasal inhalation of influenza A virus(H1N1/PR8), and intragastric administration began on the day of infection, once a day for 4 days, with the lung tissues collected 24 h later. The pathological changes in lung tissues were evaluated by hematoxy-lin-eosin(HE) staining. The protein expression of retinoic acid-inducible gene-Ⅰ(RIG-Ⅰ) and NOD-like receptor thermal protein domain associated protein 3(NLRP3) in lung tissues was detected by immunohistochemistry. The mRNA expression of RIG-Ⅰ, interferon regulatory factor 3(IRF3), interferon-beta(IFN-β), NLRP3, cysteinyl aspartate specific proteinase-1(caspase-1), gasdermin D(GSDMD), and interleukin-1 beta(IL-1β) in lung tissues was measured by quantitative real-time polymerase chain reaction(qRT-PCR). The protein expression of RIG-Ⅰ, IRF3, phosphorylated IRF3(p-IRF3), IFN-β, NLRP3, caspase-1, apoptosis-associated speck-like protein containing a CARD(ASC) and IL-1β in lung tissues was determined by Western blot. The results showed that, when compared with the virus-infected group, VTME intervention significantly alleviated pathological injury in the lung tissue. Immunohistochemical analysis revealed that VTME markedly reduced the protein expression of RIG-Ⅰ and NLRP3 in the lung tissue. Additionally, qRT-PCR and Western blot experiments indicated that VTME intervention significantly decreased the mRNA and protein expression of RIG-Ⅰ, IRF3, and IFN-β, decreased the mRNA expression of NLRP3, caspase-1, GSDMD, and IL-1β, and simultaneously reduced the protein expression of NLRP3, caspase-1, ASC, and IL-1β. Collectively, the mechanism of VTME on influenza virus-infected mice may be related to the regulation of innate immune response through inhibiting the expression of related genes and proteins in the RIG-Ⅰ signaling pathway and NLRP3 inflammasome signaling pathway. - Source: PubMed
Liu YanLuo Fu-XiangWang Xue