Paired-like homeobox 2b (PHOX2B), also known as neuroblastoma Phox (NBPhox), is a protein that in humans is encoded by the PHOX2B gene located on chromosome 4. [5] It codes for a homeodomain transcription factor. It is expressed exclusively in the nervous system, in most neurons that control the viscera (cardiovascular, digestive and ...

2024年12月25日 · PHOX2B (Paired Like Homeobox 2B) is a Protein Coding gene. Diseases associated with PHOX2B include Central Hypoventilation Syndrome, Congenital, 1 and Neuroblastoma 2. Among its related pathways are Neural crest differentiation and Sudden infant death syndrome (SIDS) susceptibility pathways.

The PHOX2B gene provides instructions for making a protein that is important during development before birth. The PHOX2B protein helps support the formation of nerve cells (neurons) and regulates the process by which the neurons …

2024年6月1日 · 配对样同源盒 2b ( phox2b ) 是自主神经系统发育中必需的基因。 PHOX2B 突变与神经嵴病（先天性巨结肠症 (HSCR) 和先天性中枢性通气不足综合征 (CCHS)）以及周围神经母细胞肿瘤相关。

1999年5月27日 · Here we show that all autonomic ganglia fail to form properly and degenerate in mice lacking the homeodomain transcription factor Phox2b, as do the three cranial sensory ganglia that are part of...

Yokoyama et al. (1996) identified the PHOX2B gene, which they called NBPhox for 'neuroblastoma phox,' from a 3-prime-directed cDNA library derived from the human neuroblastoma cell line CHP134. PHOX2B has an mRNA of 3,074 nucleotides and contains an open reading frame of 314 amino acids spanning nucleotides 361 to 1,302.

2021年5月6日 · This study presents the largest cohort of PHOX2B NPARMs and associated phenotype data to date, enabling genotype–phenotype studies that will advance personalized, anticipatory management and ...

Germline non-polyalanine repeat expansion mutations in PHOX2B (PHOX2B NPARM) predispose to peripheral neuroblastic tumors (PNT), 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 ...

PHOX2B expression is a reliable immunomarker for peripheral neuroblastic tumours; however, no systematic evaluation of central nervous system (CNS) embryonal tumours was included in the studies. We encountered two cases in which the differential diagnosis included neuroblastoma and CNS embryonal tumour, and we hypothesised that PHOX2B ...

2019年4月10日 · The paired-like homeobox 2b gene (Phox2b) is the disease-defining gene for congenital central hypoventilation syndrome and is restrictively present in brainstem nucleus, including the NTS.