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NCBI Gene PubMed Count 113
PubMed Score 289.68
PubTator Score 262.67

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Patent

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 GO Component (1)

Gene RIF (105)

PMID Text
27129232 PHOX2B forms homodimers and heterodimerizes weakly with mutated proteins, excluding the direct involvement of the polyalanine tract in dimer formation, indicating that mutated proteins retain partial ability to form heterodimers with PHOX2A.
26902400 PHOX2A expression is finely controlled during retinoic acid differentiation and this, together with PHOX2B down-regulation.
26521743 Expression of NOX4/p22(phox) as well as ROS production is enhanced by IL-1beta. On the other hand, the use of NOX4 inhibitors decreased IL-1beta-induced collagenase synthesis by chondrocytes.
26375764 Germline non-polyalanine repeat expansion mutations in PHOX2B (PHOX2B NPARM) predispose to peripheral neuroblastic tumors (PNT), frequently in association with other neurocristopathies.
26145533 Post-transcriptional down-regulation of the PHOX2B gene takes place in NB cell lines and miRNA-204 participates in such a 3'UTR mediated control.
26063465 Molecular diagnosis provides a definitive diagnosis and enables to receive appropriate ventilator support to infant diagnosed with congenital central hypoventilation syndrome and PHOX2B mutations.
25975378 Results indicate that early-onset mutant PHOX2B expression inhibits locus coeruleus neuronal development in congenital central hypoventilation syndrome
25822764 Data indicate that transcription factor PHOX2B is specific for neuroblastoma (NB) in its differential diagnosis with other small round cell tumors.
25319843 The paired-like homeobox 2B (Phox2b) gene is a transcription factor which is crucial to the development of autonomic nervous system reflex pathways.
25085640 Absence of PHOX2B polyalanine repeat expansion alleles or point mutations in 68 Australian cases of sudden unexpected death in epilepsy (SUDEP) shows that PHOX2B mutations are not a common risk factor for SUDEP
24919263 PHOX2B gene expression in the bone marrow before ASC harvesting led to significant decrease in disease-free and overall survival.
24799442 We describe a three generation family in whom multiple individuals are variably affected due to a PHOX2B non-polyalanine repeat mutation.
24792884 CCHS was confirmed genetically (heterozygous insertion of an adenine at position 23, leading to a premature stop codon in exon 1 of the PHOX2B gene.
24651702 The effects of five polymorphisms of RET (rs1800858, rs1800860, rs1800861, rs10900297, rs2435357) and one polymorphism (rs28647582) of PHOX2B Hirschsprung's disease in were evaluated.
24605541 Congenital central hypoventilation syndrome (CCHS) is characterized by a failure of the automatic control of breathing during sleep, and is caused by the dominant PHOX2B mutation.
24442913 Of all DNA variants considered, only the length variation of the polyalanine repeat in exon 3 of the PHOX2B gene was found to be statistically significantly associated with SIDS in the Dutch population.
24347288 In this series, we observed high morbidity and poor functional outcome, which should be anticipated in TCA. Patients with TCA have a high probability of requiring a long-term stoma and this should be considered as a management option.
23715162 Report utility of phox2b as an immunohistochemical marker for tumors of the autonomic nervous system.
23536260 Point "silent" mutations affecting different nucleotides of the PHOX2B gene were observed in 32 % of patients with Class III malocclusion and never in controls (0 %).
23460419 Heterozygous 24-polyalanine repeats in the PHOX2B gene with different manifestations of congenital central hypoventilation syndrome were found across three generations in one family.
23427517 testing for PHOX2B mutation can assist iq the diagnosis of congenital central hypoventilation syndrome and in the prediction of disease progression.
23342068 Results support that PHOX2B loss-of-function is a rare cause of HSCR phenotype.
23231723 Congenital central hypoventilation syndrome was diagnosed in a neonate with alveolar hypoventilation, hypoglycemia, and hypoinsulinism due to a mutation of the PHOX2B gene, confirmed by direct sequencing.
23103552 The results of this study provide novel in vitro experimental evidence of a transcriptional dominant-negative effect of PHOX2B polyalanine mutant proteins on wild-type protein on two different PHOX2B target genes.
23037578 A new heterozygote mutation of exan 3 with duplication of 15 base pairs due to expansion of 5 alanines (genotype 20/25).
22856363 monoaminergic signaling pathways may play a central role in regulating amygdala activity.Candidate gene studies indicate that differences in amygdala activity may be caused by genetic variants within monoaminergic signaling pathways
22821709 report describes a family with recurrence of PHOX2B mutation-confirmed congenital central hypoventilation syndrome due to germline mosaicism
22648184 The findings for HOXB5 and PHOX2B provide supportive evidence that genes regulating ENCC proliferation, migration and differentiation could be risk factors for Hirschsprung's disease
22552777 PHOX2B, FGF12 and GAD2 genes are hypermethylated in colorectal neoplastic tissue
22437207 Nearly 25% of congenital central hypoventilation syndrome patients carrying polyalanine expansion mutation inherit the PHOX2B mutation from parents with somatic mosaicism or constitutive mutation.
22323723 Conserved Phox2B and E-box binding sites are necessary for proper cis-regulatory element activity during sympathetic neurogenesis.
22307522 Study shows that the E3 ubiquitin ligase TRIM11 plays a critical role in the clearance of mutant PHOX2B, which causes congenital central hypoventilation syndrome, through the proteasome.
22170461 Patients with ARIX and/or PHOX2B polymorphisms had less hypoplastic superior oblique muscles.
22052119 Review of the role of paired-like homeobox 2B (PHOX2B) genetic mutations in congenital central hypoventilation syndrome.
21830319 PHOX2B exon or whole gene deletion should be considered as another mechanism of disease which may include congenital central hypoventilation syndrome, Hirschsprung disease, and/or tumors of neural crest origin.
21624811 The PHOX2B can induce desired neuronal lineages from most expressing neural progenitor cells by a mechanism resembling developmental binary cell-fate switching.
21373876 20/24 repeats and 20/27 repeats in PHOX2B gene of two unrelated Korean patients with Ondine-Hirschsprung disease
21286029 Results describe an infant with congenital central hypoventilation syndrome and Hirschsprung's disease, and polyalanine 26 repeats in the PHOX2B gene supported the diagnosis of congenital central hypoventilation.
21206965 IL23R, NOD2/CARD15, ATG16L1 and PHOX2B polymorphisms in a group of patients with Crohn's disease and correlation with sub-phenotypes.
21088916 This syndrome may also be associated with generalised dysfunction of the autonomic nervous system and a sub-group with associated Hirschsprung's disease. The genetic basis of CCHS has been identified as mutations in the PHOX2B gene.
21076974 We present four families, three with autosomal dominant inheritance and familial clustering, and one with a de novo mutation resulting in CCHS.
21051998 Observational study of genetic testing. (HuGE Navigator)
20957039 demonstrated that PHOX2B drives ALK gene transcription by directly binding its promoter, which therefore represents a novel PHOX2B target
20846217 Observational study of gene-disease association. (HuGE Navigator)
20601214 abnormalities in both forebrain and brainstem in subjects with congenital central hypoventilation syndrome may result from PHOX2B mutations
20538960 Observational study of gene-disease association. (HuGE Navigator)
20101209 Studies indicate that understanding of familial and syndromic neuroblastoma recently has made considerable progress with the identification of PHOX2B and ALK as NB susceptibility genes.
20004937 Observational study of gene-disease association. (HuGE Navigator)
19940179 Together, our results provide genetic evidence for the essential role of the Phox2b-expressing RTN neurons both in establishing a normal respiratory rhythm before birth and in providing chemosensory drive.
19888871 PHOX2B was detected in sections of human caudal pons and medulla in brain stem nuclei.
19881470 In PHOX2B in congenital central hypoventilation syndrome, haplotypes carrying rs17884724:A>C are associated with a 7-alanine expansion (27-alanine) mutation.
19735829 PHOX2B gene is involved in the susceptibility to HSCR in the Han Chinese population.
19735829 Observational study of gene-disease association. (HuGE Navigator)
19707990 Carriers of mild PHOX2b mutations causing disease in their offspring may be asymptomatic; Modifier genes determining the clinical course may exist.
19573018 Reduced expression of dopamine beta-hydroxylase caused by the short hairpin RNA specific to Phox2a is reversed by transfection with Phox2b cDNA and vice versa.
19262523 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19201717 PHOX2B mutation is confirmed in congenital central hypoventilation syndrome.
19191321 Results demonstrated that aberrant interaction of PHOX2B mutants with CBP and/or an interfering effect of certain PHOX2B mutants may be the critical mechanism to impair synergistic activation, thereby contributing to the phenotypes of CCHS.
19128492 The human PHOX2B locus contained functional non-conserved regulatory sequences in addition to conserved PHOX2B functional elements. The distribution of regulatory elements is nonuniform.
19058226 PHOX2B misfolding is not the only mechanism leading to dysfunction of the ventilatory autonomic system.
19011468 sequencing the complete PHOX2b coding region in tumors from 69 patients with sporadic neuroblastomas revealed missense mutation, silent mutation and a new polymorphism
19011468 Observational study of gene-disease association. (HuGE Navigator)
18949361 PHOX2A and PHOX2B genes are highly co-expressed in human neuroblastoma.
18798833 Congenital central hypoventilation syndrome associated with genetic variation in the PHOX2B gene.
18580884 Observational study of gene-disease association. (HuGE Navigator)
18438890 the data support a model in which RET and PHOX2B contribute to the combined phenotype in congenital central hypoventilation syndrome combined with Hirschsprung disease
18407552 report a patient with a Congenital Central Hypoventilation Syndrome (CCHS) phenotype and homozygosity for a PHOX2B gene mutation leading to an alanine expansion shorter than the threshold hitherto observed in CCHS patients with a heterozygous mutation
18323871 a heterozygous 15-nucleotide deletion, PHOX2B 1124del15, resulting in loss of 5 alanine residues in the alanine repeat, was found in a daughter with muscle palsy and her father with normal traits, but was not found in her mother with muscle palsy
18292934 Loss of PHOX2B and 17q gain are early events in neuroblastoma tumourigenesis.
18275850 This study suggests a potential role for Trim11 in the specification of NA phenotype by interaction with Phox2b.
18198276 show that mice bearing a mutation in Phox2b that causes congenital central hypoventilation syndrome in humans breathe irregularly
18157832 Parental origin and somatic mosaicism of paired-like homeobox 2b mutations in Congenital Central Hypoventilation Syndrome
18079495 17 heterozygous PHOX2B gene mutations were fiybd in 25 patients with Late-onset central hypoventilation syndrome ;the most common mutation results in an expansion+5 alanines
18041756 PHOX2B genotype is related to the severity of cardiac autonomic dysregulation in congenital central hypoventilation syndrome.
17765533 No mutation was identified but LOH in about 10% of the cases and aberrant CpG dinucleotide methylation of the 500 bp PHOX2B promoter region in 4/31 tumours and cell lines (12.9%). Both germinal and somatic anomalies at the PHOX2B locus are found in NB.
17637745 PHOX2B alterations are a rare cause of hereditary neuroblastoma, but disruption of this neurodevelopmental pathway can interfere with transcription-dependent terminal differentiation.
17541758 PHOX2B polyalanine expansion mutation affects the development of the autonomic nervous system leading to autonomic dysfunction in congenital central hypoventilation syndrome.
17505528 PHOX2B, like PHOX2A, is involved in the cascade leading to transcription factor TLX2 transactivation and presumably is involved in intestinal neuronal differentiation.
17440194 study demonstrates that the interaction between RET and PHOX2B polymorphisms has a substantial impact on risk of Hirschsprung's disease
17300129 Observational study of genotype prevalence. (HuGE Navigator)
16888290 Congenital central hypoventilation syndrome associated nonpolyalanine repeat mutations in PHOX2B are mostly de novo, predominantly affect the 3'end of PHOX2B, and generally associated with a more severe phenotype.
16873766 adults have the mildest of the CCHS-related PHOX2B polyalanine expansion mutations, coding for only five extra alanines; three of the adults have affected offspring.
16830328 a polymorphism in paired like homeobox (PHOX) 2B gene may have a role in sudden infant death syndrome
16763219 PHOX2B plays exclusive role in the pathogenesis of CCHS.
16691592 Observational study of genotype prevalence. (HuGE Navigator)
16691592 PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations.
16402914 These results support the PHOX2B-TLX2 promoter interaction, suggesting a physiological role in the transcription-factor cascade underlying the differentiation of neuronal lineages of the Autonomic Nervous System during human embryogenesis.
16280598 These results demonstrate the direct interactions of the Phox2a and b and dHAND transcription factors within a noradrenergic cell type.
16249188 Molecular basis of impaired PHOX2B function due to missense, frameshift and alanine expansion mutations leading to autonomic dysfunction was determined.
16144830 A possible molecular explanation for the maintenance of PHOX2B expression in developing ganglia, in which it is initially controlled by other factors and is later self-regulated, is reported.
16127999 PHOX2A, but not PHOX2B, seems to act directly on the c-RET promoter
16049556 the polymorphisms of the ARIX gene and PHOX2B gene may be genetic risk factors for the development of congenital superior oblique muscle palsy
16021468 Observational study of gene-disease association. (HuGE Navigator)
15901893 PHOX2B may have a role in causing pediatric disorders with autonomic dysfunction [review]
15657873 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
15657873 patients with congenital central hypoventilation syndrome who develop malignant tumors of the sympathetic nervous system harbor either a missense or a frameshift heterozygous mutation of the PHOX2B gene
15653965 Observational study of genotype prevalence. (HuGE Navigator)
15516980 report the first analysis of Phox2B in a series of 237 sporadic neuroblastomas and 22 cell lines
15240857 Observational study of gene-disease association. (HuGE Navigator)
15193420 Data report the molecular cloning and characterization of the promoter region of the human Phox2b gene.
15185974 PHOX2B gene in 23 cases of SIDS and did not find any mutations, except for three polymorphic nucleotidic substitutions; the mutation of PHOX2B is thus not likely associated with SIDS
15024693 germline mutations of PHOX2B in both a familial case of neuroblastoma and a patient with the HSCR-NB association; PHOX2B, therefore, stands as the first gene for which germline mutations predispose to NB
12919134 A de novo t(4;8)(p13;p22) translocation in a girl with Hirschsprung's disease contained a 4p12p13 deletion affecting the PMX2B gene. PMX2B haploinsuffciency might predispose to HSCR.
12640453 PHOX2B has a role in the normal patterning of the autonomous ventilation system and, more generally, of the ANS in humans
12631670 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MYKMEYSYLNSSAYESCMAGMDTSSLASAYADFSSCSQASGFQYNPIRTTFGATSGCPSLTPGSCSLGTL      1 - 70
RDHQSSPYAAVPYKLFTDHGGLNEKRKQRRIRTTFTSAQLKELERVFAETHYPDIYTREELALKIDLTEA     71 - 140
RVQVWFQNRRAKFRKQERAAAAAAAAAKNGSSGKKSDSSRDDESKEAKSTDPDSTGGPGPNPNPTPSCGA    141 - 210
NGGGGGGPSPAGAPGAAGPGGPGGEPGKGGAAAAAAAAAAAAAAAAAAAAGGLAAAGGPGQGWAPGPGPI    211 - 280
TSIPDSLGGPFASVLSSLQRPNGAKAALVKSSMF                                        281 - 314
//

Text Mined References (111)

PMID Year Title
27129232 2016 Alanine Expansions Associated with Congenital Central Hypoventilation Syndrome Impair PHOX2B Homeodomain-mediated Dimerization and Nuclear Import.
26902400 2016 PHOX2A and PHOX2B are differentially regulated during retinoic acid-driven differentiation of SK-N-BE(2)C neuroblastoma cell line.
26521743 2015 IL-1beta mediates MMP secretion and IL-1beta neosynthesis via upregulation of p22(phox) and NOX4 activity in human articular chondrocytes.
26375764 2016 Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With PHOX2B Non-Polyalanine Repeat Expansion Mutations.
26145533 2015 miR-204 mediates post-transcriptional down-regulation of PHOX2B gene expression in neuroblastoma cells.
26063465 2015 Genotype-phenotype relationship in Japanese patients with congenital central hypoventilation syndrome.
25975378 2015 Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome.
25822764 2015 Diagnostic utility of PHOX2B in primary and treated neuroblastoma and in neuroblastoma metastatic to the bone marrow.
25319843 2014 Congenital central hypoventilation syndrome and carbon dioxide sensitivity.
25085640 2014 Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases.
24919263 2014 [Prognostic value of the determination of bone marrow lesion in patients with neuroblastoma based on the gene PHOX2B and TH expression].
24799442 2014 A case of congenital central hypoventilation syndrome in a three-generation family with non-polyalanine repeat PHOX2B mutation.
24792884 2015 Late-onset congenital central hypoventilation syndrome and a rare PHOX2B gene mutation.
24651702 2014 RET and PHOX2B genetic polymorphisms and Hirschsprung's disease susceptibility: a meta-analysis.
24605541 2014 [Congenital central hypoventilation syndrome: paradigm shifts and future prospects].
24442913 2014 PHOX2B polyalanine repeat length is associated with sudden infant death syndrome and unclassified sudden infant death in the Dutch population.
24347288 2014 Total colonic aganglionosis: a 15-year single center experience.
23715162 2013 A study of gata3 and phox2b expression in tumors of the autonomic nervous system.
23536260 2013 Obstructive sleep apnea syndrome (OSAS) in children with Class III malocclusion: involvement of the PHOX2B gene.
23460419 2014 Heterozygous 24-polyalanine repeats in the PHOX2B gene with different manifestations across three generations.
23427517 Congenital central hypoventilation syndrome with hirschsprung's disease due to PHOX2B gene mutation in a Turkish infant.
23342068 2013 Contributions of PHOX2B in the pathogenesis of Hirschsprung disease.
23231723 2013 Autonomic dysfunction of glucose homoeostasis in congenital central hypoventilation syndrome.
23103552 2013 Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome.
23037578 2012 [Late onset Ondine syndrome: literature review on a case report].
22856363 2012 Associations between variants near a monoaminergic pathways gene (PHOX2B) and amygdala reactivity: a genome-wide functional imaging study.
22821709 2012 Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS).
22648184 2012 Hirschsprung's disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation.
22552777 2012 Identification of novel DNA methylation markers in colorectal cancer using MIRA-based microarrays.
22437207 2012 Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome.
22323723 2012 A Phox2- and Hand2-dependent Hand1 cis-regulatory element reveals a unique gene dosage requirement for Hand2 during sympathetic neurogenesis.
22307522 2012 The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B.
22170461 2012 Phenotype-phenotype and genotype-phenotype correlations in patients with idiopathic superior oblique muscle palsy.
22052119 Congenital central hypoventilation syndrome and the PHOX2B gene mutation.
21830319 2012 Variable human phenotype associated with novel deletions of the PHOX2B gene.
21624811 2011 Transcription factor-induced lineage selection of stem-cell-derived neural progenitor cells.
21373876 2011 PHOX2B mutations in patients with Ondine-Hirschsprung disease and a review of the literature.
21286029 2011 Haddad syndrome with PHOX2B gene mutation in a Korean infant.
21206965 2011 IL23R, NOD2/CARD15, ATG16L1 and PHOX2B polymorphisms in a group of patients with Crohn's disease and correlation with sub-phenotypes.
21088916 2011 Congenital central hypoventilation syndrome due to PHOX2B mutation in a Saudi child: a case report.
21076974 2011 Congenital central hypoventilation syndrome: four families.
21051998 2010 Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers.
20957039 2010 PHOX2B-mediated regulation of ALK expression: in vitro identification of a functional relationship between two genes involved in neuroblastoma.
20846217 2010 Association of linear growth impairment in pediatric Crohn's disease and a known height locus: a pilot study.
20601214 2010 Congenital central hypoventilation syndrome and the PHOX2B gene: a model of respiratory and autonomic dysregulation.
20538960 2010 A candidate gene study of obstructive sleep apnea in European Americans and African Americans.
20101209 2010 Molecular pathogenesis of peripheral neuroblastic tumors.
20004937 2010 Post-mortem pathologic and genetic studies in "dead in bed syndrome" cases in type 1 diabetes mellitus.
19940179 2009 Defective respiratory rhythmogenesis and loss of central chemosensitivity in Phox2b mutants targeting retrotrapezoid nucleus neurons.
19888871 PHOX2B immunolocalization of the candidate human retrotrapezoid nucleus.
19881470 2010 Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion.
19735829 2009 Association analysis of the PHOX2B gene with Hirschsprung disease in the Han Chinese population of Southeastern China.
19707990 2009 Congenital Central Hypoventilation Syndrome due to PHOX2b gene defects: inheritance from asymptomatic parents.
19573018 2009 Effects of transcription factors Phox2 on expression of norepinephrine transporter and dopamine beta-hydroxylase in SK-N-BE(2)C cells.
19262523 2009 rs224136 on chromosome 10q21.1 and variants in PHOX2B, NCF4, and FAM92B are not major genetic risk factors for susceptibility to Crohn's disease in the German population.
19201717 2009 PHOX2B mutation-confirmed congenital central hypoventilation syndrome in a Chinese family: presentation from newborn to adulthood.
19191321 2009 Interaction between PHOX2B and CREBBP mediates synergistic activation: mechanistic implications of PHOX2B mutants.
19128492 2009 Asymmetrical distribution of non-conserved regulatory sequences at PHOX2B is reflected at the ENCODE loci and illuminates a possible genome-wide trend.
19058226 2009 In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation.
19011468 2008 Rare occurrence of PHOX2b mutations in sporadic neuroblastomas.
18949361 2008 PHOX2A and PHOX2B genes are highly co-expressed in human neuroblastoma.
18798833 2009 Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene.
18580884 2008 Confirmation of association of IRGM and NCF4 with ileal Crohn's disease in a population-based cohort.
18438890 2008 Compound effect of PHOX2B and RET gene variants in congenital central hypoventilation syndrome combined with Hirschsprung disease.
18407552 2008 Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse).
18323871 2008 Clinical features, ARIX and PHOX2B nucleotide changes in three families with congenital superior oblique muscle palsy.
18292934 2008 Analysis of neuroblastoma tumour progression; loss of PHOX2B on 4p13 and 17q gain are early events in neuroblastoma tumourigenesis.
18275850 2008 Trim11 increases expression of dopamine beta-hydroxylase gene by interacting with Phox2b.
18198276 2008 A human mutation in Phox2b causes lack of CO2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons.
18157832 2008 Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome.
18079495 2008 PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome.
18041756 2008 Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death.
17765533 2007 Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma.
17637745 2008 Prevalence and functional consequence of PHOX2B mutations in neuroblastoma.
17541758 2007 Vagal and sympathetic heart rate and blood pressure control in adult onset PHOX2B mutation-confirmed congenital central hypoventilation syndrome.
17505528 2007 Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes.
17440194 2007 Role of RET and PHOX2B gene polymorphisms in risk of Hirschsprung's disease in Chinese population.
17300129 2007 Unequal crossover recombination - population screening for PHOX2B gene polyalanine polymorphism using CE.
16888290 2006 Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.
16873766 2006 PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood.
16830328 2006 Sudden infant death syndrome: Case-control frequency differences in paired like homeobox (PHOX) 2B gene.
16763219 2006 Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome.
16691592 2006 PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations.
16402914 2006 The TLX2 homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells.
16280598 2005 Phox2 and dHAND transcription factors select shared and unique target genes in the noradrenergic cell type.
16249188 2005 Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction.
16144830 2005 PHOX2B regulates its own expression by a transcriptional auto-regulatory mechanism.
16127999 2005 An in vitro approach to test the possible role of candidate factors in the transcriptional regulation of the RET proto-oncogene.
16049556 2005 ARIX and PHOX2B polymorphisms in patients with congenital superior oblique muscle palsy.
16021468 2005 Genetic association analyses of PHOX2B and ASCL1 in neuropsychiatric disorders: evidence for association of ASCL1 with Parkinson's disease.
15901893 2005 Pediatric disorders with autonomic dysfunction: what role for PHOX2B?
15657873 2005 PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.
15653965 2005 The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype.
15516980 2004 The Phox2B homeobox gene is mutated in sporadic neuroblastomas.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15338462 2004 Germline PHOX2B mutation in hereditary neuroblastoma.
15240857 2004 Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development.
15193420 2004 Molecular cloning and characterization of the promoter region of the human Phox2b gene.
15185974 2004 Sudden infant death syndrome is not associated with the mutation of PHOX2B gene, a major causative gene of congenital central hypoventilation syndrome.
15024693 2004 Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.
14566559 2003 Molecular analysis of congenital central hypoventilation syndrome.
12919134 2003 PMX2B, a new candidate gene for Hirschsprung's disease.
12640453 2003 Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.
12631670 2003 Association study of PHOX2B as a candidate gene for Hirschsprung's disease.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12438263 2002 Evidence for a hereditary neuroblastoma predisposition locus at chromosome 16p12-13.
11034547 2000 Paired-like homeodomain proteins Phox2a/Arix and Phox2b/NBPhox have similar genetic organization and independently regulate dopamine beta-hydroxylase gene transcription.
10395798 1999 Genomic structure and functional characterization of NBPhox (PMX2B), a homeodomain protein specific to catecholaminergic cells that is involved in second messenger-mediated transcriptional activation.
10360575 1999 The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives.
9374403 1997 Expression and interactions of the two closely related homeobox genes Phox2a and Phox2b during neurogenesis.
9039501 1996 Identification and cloning of neuroblastoma-specific and nerve tissue-specific genes through compiled expression profiles.