ArticleAmerican journal of human genetics2004
Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.
Article in American journal of human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 151 papers, 4 of them syntheses that pooled it.
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Who cites it
151 citing papers in PubMed, 4 syntheses or guidelines pooled it, 349 citations in OpenAlex.
- Research status and development trends of omics in neuroblastoma a bibliometric and visualization analysis.Frontiers in oncology · 2024Pooled it
- Transitional care and clinical management of adolescents, young adults, and suspected new adult patients with congenital central hypoventilation syndrome.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2023Pooled it
- Extracellular Vesicles: A New Source of Biomarkers in Pediatric Solid Tumors? A Systematic Review.Frontiers in oncology · 2022Pooled it
- CADM1 is a strong neuroblastoma candidate gene that maps within a 3.72 Mb critical region of loss on 11q23.BMC cancer · 2008Pooled it
- Association between PHOX2B gene rs28647582 T>C polymorphism and Wilms tumor susceptibility.Bioscience reports · 2019Trial
- Unveiling the Prevalence and Surgical Burden of Neurocristopathies: A Scoping Review and Statistical Analysis.Research square · 2026Article
- Decoding the mechanisms of cooperative DNA binding by the Paired-like homeodomain family.Nature communications · 2026Article
- Neural crest gene regulatory networks as drivers of development, diversification and disease.Nature reviews. Molecular cell biology · 2026Review
- Regulation of PHOX2B gene expression by the long non-coding natural antisense RNA PHOX2B-AS1.The FEBS journal · 2026Article
- Targeted immunotherapies for anaplastic lymphoma kinase-positive pediatric tumors: current advances and future perspectives.Frontiers in immunology · 2026Review
- Integrative precision oncology in neuroblastoma: multi-omics biomarkers, molecular targets, and immunotherapeutic strategies.Frontiers in oncology · 2026Review
- High-throughput 3D engineered paediatric tumour models for precision medicine.Molecular systems biology · 2025Article
- Decoding the mechanisms of cooperative DNA binding by the Paired-like homeodomain family.bioRxiv : the preprint server for biology · 2025Article
- Chromosomal instability degrades developmental phenotypes essential for anti-GD2 immunotherapy outcomes in high-risk neuroblastoma.Cell reports. Medicine · 2025Article
- High content-imaging drug synergy screening identifies specific senescence-related vulnerabilities of mesenchymal neuroblastomas.Cell death & disease · 2025Article
- Regulation and dysregulation of microRNA - transcription factor axes in differentiation and neuroblastoma.Cellular and molecular life sciences : CMLS · 2025Review
- Identification of Prognostic Biomarkers in Gene Expression Profile of Neuroblastoma Via Machine Learning.Pediatric discovery · 2025Article
- Emerging Trends in Neuroblastoma Diagnosis, Therapeutics, and Research.Molecular neurobiology · 2025Review
- Anaplastic Lymphoma Kinase Inhibition Therapy for Hereditary Neuroblastoma.JCO precision oncology · 2025Article
- An Exophytic Pancreatic Mass Diagnosed as Ganglioneuroma.ACG case reports journal · 2025Article
91 more citing papers are in PubMed but not listed here.
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Authors and funding
13 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neuroblastoma (NB) is a frequent pediatric tumor for which recurrent somatic rearrangements are known. Germline mutations of predisposing gene(s) are suspected on the basis of rare familial cases and the association of NB with other genetically determined congenital malformations of neural crest-derived cells--namely, Hirschsprung disease (HSCR) and/or congenital central hypoventilation syndrome (CCHS). We recently identified the paired-like homeobox 2B (PHOX2B) gene as the major disease-causing gene in isolated and syndromic CCHS, which prompted us to regard it as a candidate gene in NB. Here, we report on germline mutations of PHOX2B in both a familial case of NB and a patient with the HSCR-NB association. PHOX2B, therefore, stands as the first gene for which germline mutations predispose to NB.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.