Ask about this productRelated genes to: CHN1 antibody
- Gene:
- CHN1 NIH gene
- Name:
- chimerin 1
- Previous symbol:
- CHN, DURS2
- Synonyms:
- RhoGAP2, ARHGAP2, n-chimerin
- Chromosome:
- 2q31.1
- Locus Type:
- gene with protein product
- Date approved:
- 1991-07-12
- Date modifiied:
- 2016-10-05
Related products to: CHN1 antibody
Related articles to: CHN1 antibody
- 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 - Spinal cord injury (SCI) is a highly disabling neurological condition that remains a worldwide challenge in healthcare. Our previous studies found that repetitive trans-spinal magnetic stimulation (rTSMS) applied at the L2 spinal segment yielded the most significant improvement in motor function in rats with SCI; however, the underlying mechanism remains unclear. Recent research indicates that disruption of the EphA4 signaling pathway in glutamatergic interneurons within the spinal cord leads to a loss of motor rhythm and a hopping gait in rats. Conversely, activating the locomotor central pattern generator (CPG) located in the L1-2 spinal segments promotes the recovery of motor function. Thus, by examining the effects of rTSMS on proteins associated with the EphA4 signaling pathway, this study provides novel insights for future investigations into its potential mechanisms of action. - Source: PubMed
Publication date: 2026/01/16
Liu HaoFang YuDeng QianYe JiucaiZhou JielanLuo Rong
- Source: PubMed
- The comorbidity of atopic dermatitis (AD) and depression has garnered increased attention in recent years, yet the immunopathological mechanisms underlying this connection remain unclear. To bridge this gap, the study aimed to uncover the immune regulatory networks and identify key genetic markers involved in the comorbidity of depression in AD. - Source: PubMed
Publication date: 2025/11/17
Wang YifeiLiu YuqingChen MiaoLiu DanpingShen Chen
- Source: PubMed