Associated Papers
Decoding the mechanisms of cooperative DNA binding by the Paired-like homeodomain family.
Cain B et al.
Biorxiv : the Preprint Server for Biology, 2025
Chromosomal instability degrades developmental phenotypes essential for anti-GD2 immunotherapy outcomes in high-risk neuroblastoma.
Rebernick RJ et al.
Cell Reports. Medicine, 2025
Chromosomal localization of PHOX2B during M-phase is disrupted in disease-associated mutants.
Sato Y et al.
Development, Growth & Differentiation, 2025
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Tooze RS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Molecular targeting therapies for neuroblastoma: Progress and challenges.
Zafar A et al.
Medicinal Research Reviews, 2021
Association between PHOX2B gene rs28647582 T>C polymorphism and Wilms tumor susceptibility.
Lin A et al.
Bioscience Reports, 2019
Pleiotropic effect of common PHOX2B variants in Hirschsprung disease and neuroblastoma.
Zhao J et al.
Aging, 2019
Atypical presentations associated with non-polyalanine repeat PHOX2B mutations.
Katwa U et al.
American Journal of Medical Genetics. Part A, 2018
Genetic susceptibility to neuroblastoma: current knowledge and future directions.
Ritenour LE et al.
Cell and Tissue Research, 2018
Congenital central hypoventilation syndrome: a bedside-to-bench success story for advancing early diagnosis and treatment and improved survival and quality of life.
Weese-Mayer DE et al.
Pediatric Research, 2017
Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With PHOX2B Non-Polyalanine Repeat Expansion Mutations.
Heide S et al.
Pediatric Blood & Cancer, 2016
Mutations that disrupt PHOXB interaction with the neuronal calcium sensor HPCAL1 impede cellular differentiation in neuroblastoma.
Wang W et al.
Oncogene, 2014
[ATS clinical policy statement: congenital central hypoventilation syndrome. Genetic basis, diagnosis and management].
Weese-Mayer DE et al.
Revue Des Maladies Respiratoires, 2013
Distinct neuroblastoma-associated alterations of PHOX2B impair sympathetic neuronal differentiation in zebrafish models.
Pei D et al.
Plos Genetics, 2013
Contributions of PHOX2B in the pathogenesis of Hirschsprung disease.
Fernández RM et al.
Plos One, 2013
Molecular pathogenesis of peripheral neuroblastic tumors.
Janoueix-Lerosey I et al.
Oncogene, 2010
An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.
Weese-Mayer DE et al.
American Journal of Respiratory and Critical Care Medicine, 2010
Neuroblastoma phox2b variants stimulate proliferation and dedifferentiation of immature sympathetic neurons.
Reiff T et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2010
In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation.
Trochet D et al.
Human Mutation, 2009
PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome.
Trochet D et al.
American Journal of Respiratory and Critical Care Medicine, 2008
Prevalence and functional consequence of PHOX2B mutations in neuroblastoma.
Raabe EH et al.
Oncogene, 2008
Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma.
de Pontual L et al.
European Journal of Cancer (oxford, England : 1990), 2007
PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations.
McConville C et al.
American Journal of Medical Genetics. Part A, 2006
Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus.
de Pontual L et al.
Journal of Medical Genetics, 2006
Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction.
Trochet D et al.
Human Molecular Genetics, 2005
Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.
Bourdeaut F et al.
Cancer Letters, 2005
Homeodomain revisited: a lesson from disease-causing mutations.
Chi YI
Human Genetics, 2005
PHOX2B mutations and genetic predisposition to neuroblastoma.
Perri P et al.
Oncogene, 2005
Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.
Trochet D et al.
American Journal of Human Genetics, 2004