Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.

PubWeight™: 1.98‹?› | Rank: Top 2%

🔗 View Article (PMC 1181953)

Published in Am J Hum Genet on March 11, 2004

Authors

Delphine Trochet1, Franck Bourdeaut, Isabelle Janoueix-Lerosey, Anne Deville, Loïc de Pontual, Gudrun Schleiermacher, Carole Coze, Nicole Philip, Thierry Frébourg, Arnold Munnich, Stanislas Lyonnet, Olivier Delattre, Jeanne Amiel

Author Affiliations

1: Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-393, and Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France.

Articles citing this

Recent advances in neuroblastoma. N Engl J Med (2010) 7.86

Identification of ALK as a major familial neuroblastoma predisposition gene. Nature (2008) 7.38

The genetic landscape of high-risk neuroblastoma. Nat Genet (2013) 4.71

Chromosome 6p22 locus associated with clinically aggressive neuroblastoma. N Engl J Med (2008) 3.80

Targeting MYCN in neuroblastoma by BET bromodomain inhibition. Cancer Discov (2013) 3.11

Neuroblastoma: developmental biology, cancer genomics and immunotherapy. Nat Rev Cancer (2013) 2.44

Database of mRNA gene expression profiles of multiple human organs. Genome Res (2005) 2.11

Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma. Nat Genet (2012) 1.74

Germline PHOX2B mutation in hereditary neuroblastoma. Am J Hum Genet (2004) 1.66

Human fetal neuroblast and neuroblastoma transcriptome analysis confirms neuroblast origin and highlights neuroblastoma candidate genes. Genome Biol (2006) 1.44

PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. Am J Hum Genet (2005) 1.41

Molecular and genetic bases of neuroblastoma. Int J Clin Oncol (2012) 1.25

Genetic basis of Hirschsprung's disease. Pediatr Surg Int (2009) 1.25

The contribution of associated congenital anomalies in understanding Hirschsprung's disease. Pediatr Surg Int (2006) 1.22

Neuroblastoma: molecular pathogenesis and therapy. Annu Rev Med (2014) 1.21

Mechanisms of neuroblastoma regression. Nat Rev Clin Oncol (2014) 1.17

The prenatal origins of cancer. Nat Rev Cancer (2014) 1.09

MYCN promotes the expansion of Phox2B-positive neuronal progenitors to drive neuroblastoma development. Am J Pathol (2009) 1.08

The connections between neural crest development and neuroblastoma. Curr Top Dev Biol (2011) 1.01

Rare variants in TP53 and susceptibility to neuroblastoma. J Natl Cancer Inst (2014) 1.00

CADM1 is a strong neuroblastoma candidate gene that maps within a 3.72 Mb critical region of loss on 11q23. BMC Cancer (2008) 0.95

Asymmetrical distribution of non-conserved regulatory sequences at PHOX2B is reflected at the ENCODE loci and illuminates a possible genome-wide trend. BMC Genomics (2009) 0.94

An ancestral variant of Secretogranin II confers regulation by PHOX2 transcription factors and association with hypertension. Hum Mol Genet (2007) 0.92

The emerging molecular pathogenesis of neuroblastoma: implications for improved risk assessment and targeted therapy. Genome Med (2009) 0.89

Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expression. J Clin Invest (2012) 0.89

Distinct neuroblastoma-associated alterations of PHOX2B impair sympathetic neuronal differentiation in zebrafish models. PLoS Genet (2013) 0.88

Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus. J Med Genet (2006) 0.86

Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease. Pediatr Surg Int (2012) 0.85

PHOX2B-mediated regulation of ALK expression: in vitro identification of a functional relationship between two genes involved in neuroblastoma. PLoS One (2010) 0.85

ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome. Eur J Hum Genet (2011) 0.83

A single nucleotide polymorphism associated with isolated cleft lip and palate, thyroid cancer and hypothyroidism alters the activity of an oral epithelium and thyroid enhancer near FOXE1. Hum Mol Genet (2015) 0.82

Quantitative phosphoproteomic analysis identifies activation of the RET and IGF-1R/IR signaling pathways in neuroblastoma. PLoS One (2013) 0.81

High-resolution array CGH profiling identifies Na/K transporting ATPase interacting 2 (NKAIN2) as a predisposing candidate gene in neuroblastoma. PLoS One (2013) 0.80

Pathway-BasedFeature Selection Algorithm for Cancer Microarray Data. Adv Bioinformatics (2010) 0.79

Identification of GALNT14 as a novel neuroblastoma predisposition gene. Oncotarget (2015) 0.79

Mutations that disrupt PHOXB interaction with the neuronal calcium sensor HPCAL1 impede cellular differentiation in neuroblastoma. Oncogene (2013) 0.78

Genetic susceptibility to neuroblastoma. Curr Opin Genet Dev (2017) 0.76

More than the genes, the tumor microenvironment in neuroblastoma. Cancer Lett (2015) 0.76

Temporal clustering of neuroblastic tumours in children and young adults from Northern England. Environ Health (2015) 0.75

Expression quantitative trait loci and receptor pharmacology implicate Arg1 and the GABA-A receptor as therapeutic targets in neuroblastoma. Cell Rep (2014) 0.75

The zebrafish as a model for studying neuroblastoma. Cancer Cell Int (2016) 0.75

PHOX2B is a suppressor of neuroblastoma metastasis. Oncotarget (2016) 0.75

The MYCN Protein in Health and Disease. Genes (Basel) (2017) 0.75

Knockout mouse models of Hirschsprung's disease. Pediatr Surg Int (2015) 0.75

Cell Proliferation in Neuroblastoma. Cancers (Basel) (2016) 0.75

Depletion of the IKBKAP ortholog in zebrafish leads to hirschsprung disease-like phenotype. World J Gastroenterol (2015) 0.75

PHOX2A and PHOX2B are differentially regulated during retinoic acid-driven differentiation of SK-N-BE(2)C neuroblastoma cell line. Exp Cell Res (2016) 0.75

Sub-micromolar concentrations of retinoic acid induce morphological and functional neuronal phenotypes in SK-N-SH neuroblastoma cells. In Vitro Cell Dev Biol Anim (2017) 0.75

Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitries. Nat Genet (2017) 0.75

Examination of PHOX2B in Adult Neuroendocrine Neoplasms Reveals Relatively Frequent Expression in Pheochromocytomas and Paragangliomas. Histopathology (2017) 0.75

Genomic analysis-integrated whole-exome sequencing of neuroblastomas identifies genetic mutations in axon guidance pathway. Oncotarget (2017) 0.75

Articles cited by this

Molecular biology of neuroblastoma. J Clin Oncol (1999) 6.54

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet (2003) 3.96

The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives. Nature (1999) 3.77

IN SITU NEUROBLASTOMAS: A CONTRIBUTION TO THE NATURAL HISTORY OF NEURAL CREST TUMORS. Am J Pathol (1963) 2.51

Phox2 genes - from patterning to connectivity. Curr Opin Genet Dev (2002) 2.20

Advances in the diagnosis and treatment of neuroblastoma. Oncologist (2003) 2.17

Familial neuroblastoma. Report of a kindred with multiple disorders, including neuroblastomas in four siblings. N Engl J Med (1967) 1.90

Multiple endocrine neoplasia type 2 and RET: from neoplasia to neurogenesis. J Med Genet (2000) 1.61

Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. Hum Mol Genet (1994) 1.51

Specification of the central noradrenergic phenotype by the homeobox gene Phox2b. Mol Cell Neurosci (2000) 1.41

Evidence for a hereditary neuroblastoma predisposition locus at chromosome 16p12-13. Cancer Res (2002) 1.26

The Phox2b transcription factor coordinately regulates neuronal cell cycle exit and identity. Development (2000) 1.25

Molecular genetic analysis of familial neuroblastoma. Eur J Cancer (1997) 1.23

The role of the MEIS homeobox genes in neuroblastoma. Cancer Lett (2003) 1.19

The Homeodomain Resource: 2003 update. Nucleic Acids Res (2003) 1.18

Congenital central hypoventilation syndrome associated with Hirschsprung's disease and neuroblastoma: case of multiple neurocristopathies. Pediatr Pulmonol (2002) 1.08

Weak linkage at 4p16 to predisposition for human neuroblastoma. Oncogene (2002) 1.00

Dual effect on the RET receptor of MEN 2 mutations affecting specific extracytoplasmic cysteines. Oncogene (1998) 0.95

Genomic structure and functional characterization of NBPhox (PMX2B), a homeodomain protein specific to catecholaminergic cells that is involved in second messenger-mediated transcriptional activation. Genomics (1999) 0.95

Developmental genetics of neuroblastoma. J Natl Cancer Inst (1976) 0.94

Familial occurrence of neuroblastoma, von Recklinghausen's neurofibromatosis, Hirschsprung's agangliosis and jaw-winking syndrome. Acta Paediatr Scand (1989) 0.88

Articles by these authors

Systematic identification of genomic markers of drug sensitivity in cancer cells. Nature (2012) 15.91

Lamin a truncation in Hutchinson-Gilford progeria. Science (2003) 8.01

Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. Nature (2008) 5.32

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet (2007) 4.99

Fusion gene-negative alveolar rhabdomyosarcoma is clinically and molecularly indistinguishable from embryonal rhabdomyosarcoma. J Clin Oncol (2010) 4.93

Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA (2011) 4.84

Integrative genomic analysis of medulloblastoma identifies a molecular subgroup that drives poor clinical outcome. J Clin Oncol (2010) 4.48

Protein interaction mapping: a Drosophila case study. Genome Res (2005) 4.15

Subgroup-specific structural variation across 1,000 medulloblastoma genomes. Nature (2012) 4.13

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet (2003) 3.96

Molecular subgroups of medulloblastoma: an international meta-analysis of transcriptome, genetic aberrations, and clinical data of WNT, SHH, Group 3, and Group 4 medulloblastomas. Acta Neuropathol (2012) 3.88

Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med (2008) 3.85

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet (2007) 3.42

EWS/FLI-1 silencing and gene profiling of Ewing cells reveal downstream oncogenic pathways and a crucial role for repression of insulin-like growth factor binding protein 3. Mol Cell Biol (2004) 3.33

Impact of Fc{gamma}RIIa-Fc{gamma}RIIIa polymorphisms and KRAS mutations on the clinical outcome of patients with metastatic colorectal cancer treated with cetuximab plus irinotecan. J Clin Oncol (2009) 3.20

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat (2004) 3.07

Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet (2002) 3.07

Predicting outcomes for children with neuroblastoma using a multigene-expression signature: a retrospective SIOPEN/COG/GPOH study. Lancet Oncol (2009) 3.07

Mesenchymal stem cell features of Ewing tumors. Cancer Cell (2007) 3.04

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet (2009) 3.03

The C-MYB locus is involved in chromosomal translocation and genomic duplications in human T-cell acute leukemia (T-ALL), the translocation defining a new T-ALL subtype in very young children. Blood (2007) 2.99

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet (2006) 2.96

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis. N Engl J Med (2011) 2.93

A new model of patient tumor-derived breast cancer xenografts for preclinical assays. Clin Cancer Res (2007) 2.88

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet (2012) 2.86

Control-FREEC: a tool for assessing copy number and allelic content using next-generation sequencing data. Bioinformatics (2011) 2.86

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Arch Gen Psychiatry (2009) 2.82

Control-free calling of copy number alterations in deep-sequencing data using GC-content normalization. Bioinformatics (2010) 2.79

The eEF2 kinase confers resistance to nutrient deprivation by blocking translation elongation. Cell (2013) 2.74

SVDetect: a tool to identify genomic structural variations from paired-end and mate-pair sequencing data. Bioinformatics (2010) 2.63

miR-122, a paradigm for the role of microRNAs in the liver. J Hepatol (2008) 2.61

Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr (2011) 2.57

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat Genet (2011) 2.52

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Ann Neurol (2010) 2.48

A new subtype of bone sarcoma defined by BCOR-CCNB3 gene fusion. Nat Genet (2012) 2.45

Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. Mol Aspects Med (2004) 2.32

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet (2006) 2.31

PAX3/FOXO1 fusion gene status is the key prognostic molecular marker in rhabdomyosarcoma and significantly improves current risk stratification. J Clin Oncol (2012) 2.29

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Am J Hum Genet (2007) 2.22

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet (2004) 2.22

Overall genomic pattern is a predictor of outcome in neuroblastoma. J Clin Oncol (2009) 2.21

A human mutation in Phox2b causes lack of CO2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons. Proc Natl Acad Sci U S A (2008) 2.19

Beta-catenin status in paediatric medulloblastomas: correlation of immunohistochemical expression with mutational status, genetic profiles, and clinical characteristics. J Pathol (2009) 2.15

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability. Am J Hum Genet (2010) 2.12

Identification of mutations in CUL7 in 3-M syndrome. Nat Genet (2005) 2.10

Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations. Am J Hum Genet (2009) 2.09

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology (2012) 2.05

Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans. Nat Genet (2011) 2.04

Genome-wide profiling using single-nucleotide polymorphism arrays identifies novel chromosomal imbalances in pediatric glioblastomas. Neuro Oncol (2009) 2.04

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Hum Mutat (2007) 2.04

Efficacy of etanercept for the treatment of juvenile idiopathic arthritis according to the onset type. Arthritis Rheum (2003) 2.03

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet (2009) 2.03

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis. Nat Genet (2007) 2.03

Succinate dehydrogenase and human diseases: new insights into a well-known enzyme. Eur J Hum Genet (2002) 2.00

Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease. Gastroenterology (2004) 1.98

2009 version of the Chompret criteria for Li Fraumeni syndrome. J Clin Oncol (2009) 1.97

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Hum Mutat (2007) 1.93

Tequila, a neurotrypsin ortholog, regulates long-term memory formation in Drosophila. Science (2006) 1.93

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J Clin Invest (2003) 1.92

Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur J Hum Genet (2008) 1.90

VAMP: visualization and analysis of array-CGH, transcriptome and other molecular profiles. Bioinformatics (2006) 1.87

Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. Am J Hum Genet (2007) 1.86

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet (2008) 1.86

Selective iron chelation in Friedreich ataxia: biologic and clinical implications. Blood (2007) 1.84

Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system. Hum Mutat (2011) 1.83