ArticleInternational journal of molecular sciences2024
Anti-ZSCAN1 Autoantibodies Are a Feasible Diagnostic Marker for ROHHAD Syndrome Not Associated with a Tumor.
Article in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 10 citations in OpenAlex.
- A 2.5-year-old obese girl with persistent hypoventilation post-pneumonia: when is it not just the lungs?Breathe (Sheffield, England) · 2026Article
- Chromatin regulator expression patterns predict prognosis and guide neoadjuvant therapy in esophageal squamous cell carcinoma.Fundamental research · 2026Article
- AEGIS reveals epitope- and clone-resolved convergence of CNS B and T cell autoreactivity in ROHHAD.bioRxiv : the preprint server for biology · 2026Article
- Case Report: First description of an intracranial "NET" in ROHHAD syndrome; time to rename to the ROHHAD-NeCT syndrome?Frontiers in endocrinology · 2026Article
- ROHHAD NET in Retrospect: Key Lessons Learned from Five Cases.Indian journal of pediatrics · 2025Article
- Rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation as a paraneoplastic syndrome in neuroblastoma: case report.Translational pediatrics · 2025Article
- Genetic evaluation of five patients with ROHHAD-NET using whole genome sequencing and optical genome mapping.Orphanet journal of rare diseases · 2025Article
- Autoimmunity related to anti-NaEndocrine journal · 2024Review
- The Enigma That Is ROHHAD Syndrome: Challenges and Future Strategies.Brain sciences · 2024Review
- Antibodies Against ZSCAN1 in Pediatric and Adult Patients With Non-Paraneoplastic ROHHAD Syndrome.Neurology(R) neuroimmunology & neuroinflammation · 2024Article
- High-Titer Anti-ZSCAN1 Antibodies in a Toddler Clinically Diagnosed with Apparent Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome.International journal of molecular sciences · 2024Article
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Recent studies have reported the presence of autoantibodies against zinc finger and SCAN domain-containing protein 1 (ZSCAN1) in the sera of patients with rapid-onset obesity with hypoventilation, hypothalamic and autonomic dysregulation (ROHHAD) syndrome associated with neuroendocrine tumors, suggesting immunologic and paraneoplastic processes as the pathologic underpinnings. Moreover, several hypothalamic regions, including the subfornical organ (SFO), were reported to exhibit antibody reactivity in a patient with ROHHAD syndrome not associated with a tumor. Whether ROHHAD syndrome not associated with a tumor is associated with anti-ZSCAN1 autoantibodies remains unclear. We used a comprehensive protein array analysis to identify candidate molecules in the sera of patients with ROHHAD syndrome and identified ZSCAN1 as a target antigen. We also found that ZSCAN1 was co-expressed at the site of antibody reactivity to the IgG in the patient serum observed in mouse SFOs and an enzyme-linked immunosorbent assay showed that >85% of the patients with ROHHAD syndrome were positive for anti-ZSCAN1 autoantibodies. These results suggest anti-ZSCAN1 autoantibodies as a feasible diagnostic marker in ROHHAD syndrome regardless of the presence of a tumor.
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