anti-Paired-Like Homeobox 2b (PHOX2B) Antibodies

Zebrafish Paired-Like Homeobox 2b (PHOX2B) interaction partners

1. reduced dosage of PHOX2B during development, through either a heterozygous deletion or dominant-negative mutation, imposes a block in the differentiation of sympathetic neuronal precursors

2. Phox2b is expressed throughout the primary taste centers of two cyprinid fish, Danio rerio and Carassius auratus

3. Phox2b function is sox10 (show SOX10 Antibodies)-dependent in the developing enteric nervous system

Human Paired-Like Homeobox 2b (PHOX2B) interaction partners

1. PHOX2B is a highly sensitive and specific immunohistochemical marker for peripheral neuroblastic tumours, including neuroblastoma (show ARHGEF16 Antibodies).

2. 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.

3. PHOX2B gene mutation results in a cytosine to thymine substitution changing the amino acid at codon 82 from proline to leucine.

4. The discovery of gain-of-function mutations in the ALK receptor tyrosine kinase (show RET Antibodies) gene as the major cause of familial neuroblastoma (show ARHGEF16 Antibodies) 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.

5. 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

6. This study is the first to evaluate minimal residual disease detection using neuroblastoma (show ARHGEF16 Antibodies) mRNAs in human ovarian tissue. Only PHOX2B was a reliable marker of neuroblastoma (show ARHGEF16 Antibodies) cells contaminating ovarian tissue.

7. 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).

8. These pre-clinical data strongly suggest that PHOX2B functions as a suppressor of neuroblastoma (show ARHGEF16 Antibodies) progression.

9. High PHOX2B expression is associated with Neuroblastoma (show ARHGEF16 Antibodies).

10. 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 (show PHOX2A Antibodies).

Mouse (Murine) Paired-Like Homeobox 2b (PHOX2B) interaction partners

1. This study demonstrated that the Phox2b distinguishes between oral and non-oral sensory neurons in the geniculate ganglion in mice.

2. Murine models of congenital central hypoventilation syndrome designed with PHOX2B mutations have suggested RTN neuron agenesis.

3. The retrotrapezoid nucleus neurons expressing Atoh1 (show ATOH1 Antibodies) and Phox2b are essential for the respiratory response to CO2.

4. Adult Phox2b(+/-) mice showed altered exploratory behavior in the open field and in the elevated plus maze, both indicative of anxiety. Phox2b(+/-) mice did not show cognitive or motor impairments.

5. many cranial nerve-associated crest cells coexpress the pan (show SUPT6H Antibodies)-autonomic determinant Paired-like homeodomain 2b (Phox2b) together with markers of Schwann cell precursors. Some give rise to Schwann cells after down-regulation of PHOX2b.

6. In this review, conditional mouse mutants of Phox2b(27Ala) lacked the ventilary response to hypercapnia at birth.

7. Phox2b transcripts were identified in FAC (show FANCC Antibodies)-sorted Pitx3 (show PITX3 Antibodies) positive neurons.

8. This study demonistrated that Phox2b-expressing retrotrapezoid neurons are intrinsically responsive to H+ and CO2.

9. Nonpolyalanine repeat expansion mutation of PHOX2B is both a dominant-negative and gain-of-function mutation.

10. The PHOX2B can induce desired neuronal lineages from most expressing neural progenitor cells by a mechanism resembling developmental binary cell-fate switching.