Recombinant Human Paired mesoderm homeobox protein 2B (PHOX2B)

1. in vitro transactivation of the RET promoter by different Hirschsprung disease-associated PHOX2B polyA variants has resulted significantly lower compared to the effect of PHOX2B wild type protein. PMID: 28433712
2. The primary cause of Congenital central hypoventilation syndrome is the mutation of the paired-like homeobox PHO2XB gene, found in 90% of the patients. PMID: 29249648
3. PHOX2B is a highly sensitive and specific immunohistochemical marker for peripheral neuroblastic tumours, including neuroblastoma. PMID: 28640941
4. The authors found frequent, weak to moderate PHOX2B expression in phaeochromocytomas/paragangliomas and no expression in well-differentiated neuroendocrine tumours (WDNETs), which could be diagnostically useful in the distinction of these tumours. PMID: 28464318
5. PHOX2B gene mutation results in a cytosine to thymine substitution changing the amino acid at codon 82 from proline to leucine. PMID: 28633714
6. The discovery of gain-of-function mutations in the ALK receptor tyrosine kinase gene as the major cause of familial neuroblastoma led to the discovery of identical somatic mutations and rapid advancement of ALK as a tractable therapeutic target. Inactivating mutations in a master regulator of neural crest development, PHOX2B, have also been identified in a subset of familial neuroblastomas. PMID: 28458126
7. Given the association between congenital heart disease and aberrant neural crest cell development, however, findings are suggestive that congenital heart disease may be a rare feature of PHOX2B mutation which has not been previously reported PMID: 28422456
8. This study is the first to evaluate minimal residual disease detection using neuroblastoma mRNAs in human ovarian tissue. Only PHOX2B was a reliable marker of neuroblastoma cells contaminating ovarian tissue. PMID: 27734578
9. This truncated protein localized to the nucleus and transactivated a target promoter. These data suggest that nonsense pathogenic variants in the first exon of PHOX2B likely escape nonsense mediated decay (NMD) and produce N-terminally truncated proteins functionally distinct from those produced by the more common polyalanine repeat mutations (PARMs). PMID: 28371199
10. These pre-clinical data strongly suggest that PHOX2B functions as a suppressor of neuroblastoma progression. PMID: 26840262
11. High PHOX2B expression is associated with Neuroblastoma. PMID: 26910576
12. 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. PMID: 27129232
13. 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. PMID: 26521743
14. PHOX2A expression is finely controlled during retinoic acid differentiation and this, together with PHOX2B down-regulation. PMID: 26902400
15. 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 %). PMID: 23536260
16. Germline non-polyalanine repeat expansion mutations in PHOX2B (PHOX2B NPARM) predispose to peripheral neuroblastic tumors (PNT), frequently in association with other neurocristopathies. PMID: 26375764
17. Molecular diagnosis provides a definitive diagnosis and enables to receive appropriate ventilator support to infant diagnosed with congenital central hypoventilation syndrome and PHOX2B mutations. PMID: 26063465
18. Results indicate that early-onset mutant PHOX2B expression inhibits locus coeruleus neuronal development in congenital central hypoventilation syndrome PMID: 25975378
19. We describe a three generation family in whom multiple individuals are variably affected due to a PHOX2B non-polyalanine repeat mutation. PMID: 24799442
20. 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. PMID: 24792884
21. 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. PMID: 26145533
22. 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. PMID: 24347288
23. The paired-like homeobox 2B (Phox2b) gene is a transcription factor which is crucial to the development of autonomic nervous system reflex pathways. PMID: 25319843
24. Data indicate that transcription factor PHOX2B is specific for neuroblastoma (NB) in its differential diagnosis with other small round cell tumors. PMID: 25822764
25. 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. PMID: 24442913
26. The effects of five polymorphisms of RET (rs1800858, rs1800860, rs1800861, rs10900297, rs2435357) and one polymorphism (rs28647582) of PHOX2B Hirschsprung's disease in were evaluated. PMID: 24651702
27. 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 PMID: 25085640
28. Heterozygous 24-polyalanine repeats in the PHOX2B gene with different manifestations of congenital central hypoventilation syndrome were found across three generations in one family. PMID: 23460419
29. PHOX2B gene expression in the bone marrow before ASC harvesting led to significant decrease in disease-free and overall survival. PMID: 24919263
30. 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. PMID: 24605541
31. 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. PMID: 23231723
32. Report utility of phox2b as an immunohistochemical marker for tumors of the autonomic nervous system. PMID: 23715162
33. Results support that PHOX2B loss-of-function is a rare cause of HSCR phenotype. PMID: 23342068
34. 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. PMID: 23103552
35. A new heterozygote mutation of exan 3 with duplication of 15 base pairs due to expansion of 5 alanines (genotype 20/25). PMID: 23037578
36. testing for PHOX2B mutation can assist iq the diagnosis of congenital central hypoventilation syndrome and in the prediction of disease progression. PMID: 23427517
37. 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 PMID: 22648184
38. 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. PMID: 22307522
39. report describes a family with recurrence of PHOX2B mutation-confirmed congenital central hypoventilation syndrome due to germline mosaicism PMID: 22821709
40. Nearly 25% of congenital central hypoventilation syndrome patients carrying polyalanine expansion mutation inherit the PHOX2B mutation from parents with somatic mosaicism or constitutive mutation. PMID: 22437207
41. 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 PMID: 22856363
42. PHOX2B, FGF12 and GAD2 genes are hypermethylated in colorectal neoplastic tissue PMID: 22552777
43. Patients with ARIX and/or PHOX2B polymorphisms had less hypoplastic superior oblique muscles. PMID: 22170461
44. Review of the role of paired-like homeobox 2B (PHOX2B) genetic mutations in congenital central hypoventilation syndrome. PMID: 22052119
45. 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. PMID: 21830319
46. 20/24 repeats and 20/27 repeats in PHOX2B gene of two unrelated Korean patients with Ondine-Hirschsprung disease PMID: 21373876
47. We present four families, three with autosomal dominant inheritance and familial clustering, and one with a de novo mutation resulting in CCHS. PMID: 21076974
48. 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. PMID: 21088916
49. Conserved Phox2B and E-box binding sites are necessary for proper cis-regulatory element activity during sympathetic neurogenesis. PMID: 22323723
50. The PHOX2B can induce desired neuronal lineages from most expressing neural progenitor cells by a mechanism resembling developmental binary cell-fate switching. PMID: 21624811

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HGNC: 9143

OMIM: 209880

KEGG: hsa:8929

STRING: 9606.ENSP00000226382

UniGene: Hs.87202