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The DNA-associated protein encoded by PHOX2B is a member of the paired family of homeobox proteins localized to the nucleus. Additionally we are shipping PHOX2B Antibodies (56) and many more products for this protein.
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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
Phox2b is expressed throughout the primary taste centers of two cyprinid fish, Danio rerio and Carassius auratus
Phox2b function is sox10 (show SOX10 Proteins)-dependent in the developing enteric nervous system
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).
These pre-clinical data strongly suggest that PHOX2B functions as a suppressor of neuroblastoma (show ARHGEF16 Proteins) progression.
High PHOX2B expression is associated with Neuroblastoma (show ARHGEF16 Proteins).
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 Proteins).
Expression of NOX4 (show NOX4 Proteins)/p22(phox (show CYBA Proteins)) as well as ROS (show ROS1 Proteins) production is enhanced by IL-1beta (show IL1B Proteins). On the other hand, the use of NOX4 (show NOX4 Proteins) inhibitors decreased IL-1beta (show IL1B Proteins)-induced collagenase synthesis by chondrocytes.
PHOX2A (show PHOX2A Proteins) expression is finely controlled during retinoic acid differentiation and this, together with PHOX2B down-regulation.
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 %).
Germline non-polyalanine repeat expansion mutations in PHOX2B (PHOX2B NPARM) predispose to peripheral neuroblastic tumors (PNT (show ETS2 Proteins)), frequently in association with other neurocristopathies.
Molecular diagnosis provides a definitive diagnosis and enables to receive appropriate ventilator support to infant diagnosed with congenital central hypoventilation syndrome and PHOX2B mutations.
Results indicate that early-onset mutant PHOX2B expression inhibits locus coeruleus neuronal development in congenital central hypoventilation syndrome
The retrotrapezoid nucleus neurons expressing Atoh1 (show ATOH1 Proteins) and Phox2b are essential for the respiratory response to CO2.
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.
many cranial nerve-associated crest cells coexpress the pan-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.
In this review, conditional mouse mutants of Phox2b(27Ala) lacked the ventilary response to hypercapnia at birth.
Phox2b transcripts were identified in FAC (show FANCC Proteins)-sorted Pitx3 (show PITX3 Proteins) positive neurons.
This study demonistrated that Phox2b-expressing retrotrapezoid neurons are intrinsically responsive to H+ and CO2.
Nonpolyalanine repeat expansion mutation of PHOX2B is both a dominant-negative and gain-of-function mutation.
The PHOX2B can induce desired neuronal lineages from most expressing neural progenitor cells by a mechanism resembling developmental binary cell-fate switching.
The cranial sensory pathways, somatic and visceral, are related, and Phox2b serves as a developmental switch from the former to the latter.
Phox2b mutants lack a retrotrapezoid nucleus and their breathing is not stimulated by elevated CO(2)
The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations and the determination of neurotransmitter phenotype. The gene product is linked to enhancement of second messenger-mediated activation of the dopamine beta-hydroylase, c-fos promoters and several enhancers, including cyclic amp-response element and serum-response element.
paired-like homeobox 2b
, paired mesoderm homeobox protein 2B
, PHOX2B homeodomain protein
, neuroblastoma Phox
, neuroblastoma paired-type homeobox protein
, paired mesoderm homeobox 2b
, GENA 269
, dilated pupils 1