| Outcomes of strabismus surgery in genetically confirmed congenital fibrosis of the extraocular muscles. | Outcomes of strabismus surgery in genetically confirmed congenital fibrosis of the extraocular muscles.
Heidary G, Mackinnon S, Elliott A, Barry BJ, Engle EC, Hunter DG., Free PMC Article | 04/13/2021 |
| PHOX2A expression is finely controlled during retinoic acid differentiation and this, together with PHOX2B down-regulation. | PHOX2A and PHOX2B are differentially regulated during retinoic acid-driven differentiation of SK-N-BE(2)C neuroblastoma cell line.
Di Lascio S, Saba E, Belperio D, Raimondi A, Lucchetti H, Fornasari D, Benfante R., Free PMC Article | 07/30/2016 |
| Genetic linkage was found at 11q13 between D11S4151 and D11S1320 and the PHOX2A gene. | [Identification of a novel PHOX2A gene mutation in a Chinese family with congenital fibrosis of extraocular muscles type 2].
Dong JM, Shen Q, Li J, Du W, Pang HL, Lin SF, Bu J. | 07/14/2012 |
| Patients with ARIX and/or PHOX2B polymorphisms had less hypoplastic superior oblique muscles. | Phenotype-phenotype and genotype-phenotype correlations in patients with idiopathic superior oblique muscle palsy.
Ohkubo SI, Matsuo T, Hasebe K, Shira YH, Itoshima E, Ohtsuki H. | 06/23/2012 |
| Our 16-patient sample suggests that KIF21A and PHOX2A sequence variation does not have a role in common forms of congenital incomitant vertical strabismus. | Mutations in KIF21A and PHOX2A are absent in 16 patients with congenital vertical incomitant strabismus.
Khan AO, Khalil DS, Al-Sharif LJ, Al-Tassan NA. | 01/21/2010 |
| Transfection of Phox2a cDNA significantly increases mRNA and protein levels of norepinephrine transporter and dopamine beta-hydroxylase. | Effects of transcription factors Phox2 on expression of norepinephrine transporter and dopamine beta-hydroxylase in SK-N-BE(2)C cells.
Fan Y, Huang J, Kieran N, Zhu MY., Free PMC Article | 01/21/2010 |
| PHOX2A gene, localized in a tumor suppressor candidate region at 11q, weas screened for mutations by DNA sequencing in 47 tumors of different stages. | The Phox2 pathway is differentially expressed in neuroblastoma tumors, but no mutations were found in the candidate tumor suppressor gene PHOX2A.
Wilzén A, Nilsson S, Sjöberg RM, Kogner P, Martinsson T, Abel F. | 01/21/2010 |
| PHOX2A and PHOX2B genes are highly co-expressed in human neuroblastoma. | PHOX2A and PHOX2B genes are highly co-expressed in human neuroblastoma.
Longo L, Borghini S, Schena F, Parodi S, Albino D, Bachetti T, Da Prato L, Truini M, Gambini C, Tonini GP, Ceccherini I, Perri P. | 01/21/2010 |
| The ARIX 153G>A polymorphism might be a genetic risk factor for the development of congenital superior oblique muscle palsy | Clinical features, ARIX and PHOX2B nucleotide changes in three families with congenital superior oblique muscle palsy.
Imai S, Matsuo T, Itoshima E, Ohtsuki H. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development.
Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Curran ME, Silvestri JM, Marazita ML. | 03/13/2008 |
| PHOX2A, like PHOX2B, is involved in the cascade leading to transcription factor TLX2 transactivation and presumably is involved in intestinal neuronal differentiation. | Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes.
Borghini S, Di Duca M, Santamaria G, Vargiolu M, Bachetti T, Cargnin F, Pini Prato A, De Giorgio R, Lerone M, Stanghellini V, Jasonni V, Fornasari D, Ravazzolo R, Ceccherini I. | 01/21/2010 |
| a variant of Secretogranin II has a role in regulation by PHOX2 transcription factors and in hypertension | An ancestral variant of Secretogranin II confers regulation by PHOX2 transcription factors and association with hypertension.
Wen G, Wessel J, Zhou W, Ehret GB, Rao F, Stridsberg M, Mahata SK, Gent PM, Das M, Cooper RS, Chakravarti A, Zhou H, Schork NJ, O'connor DT, Hamilton BA., Free PMC Article | 01/21/2010 |
| PHOX2A mutation analysis revealed a novel nonsense mutation in CFEOM2 (congenital fibrosis of extraocular muscles type 2) | A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2).
Yazdani A, Chung DC, Abbaszadegan MR, Al-Khayer K, Chan WM, Yazdani M, Ghodsi K, Engle EC, Traboulsi EI. | 01/21/2010 |
| the polymorphisms of the ARIX gene and PHOX2B gene may be genetic risk factors for the development of congenital superior oblique muscle palsy | ARIX and PHOX2B polymorphisms in patients with congenital superior oblique muscle palsy.
Jiang Y, Matsuo T, Fujiwara H, Hasebe S, Ohtsuki H, Yasuda T. | 01/21/2010 |
| The paired-like homeodomain protein, Arix, mediates protein kinase A-stimulated dopamine beta-hydroxylase gene transcription through its phosphorylation status | The paired-like homeodomain protein, Arix, mediates protein kinase A-stimulated dopamine beta-hydroxylase gene transcription through its phosphorylation status.
Adachi M, Lewis EJ. | 01/21/2010 |
| the alpha3 subunit is expressed in every terminally differentiated ganglionic cell, this is the first example of a "pan-autonomic" gene whose expression is regulated by PHOX2 proteins. | Transcription factor PHOX2A regulates the human alpha3 nicotinic receptor subunit gene promoter.
Benfante R, Flora A, Di Lascio S, Cargnin F, Longhi R, Colombo S, Clementi F, Fornasari D. | 01/21/2010 |
| Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy | Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.
Strømme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SM, Bruyere H, Lütcherath V, Gedeon AK, Wallace RH, Scheffer IE, Turner G, Partington M, Frints SG, Fryns JP, Sutherland GR, Mulley JC, Gécz J. | 01/21/2010 |
| Together, these results suggest that phosphorylation of Arix by ERK1/2 inhibits its ability to interact with target genes, and that both specificity of expression and modulation by external stimuli are monitored through the same transcription factor. | ERK1/2 is a negative regulator of homeodomain protein Arix/Phox2a.
Hsieh MM, Lupas G, Rychlik J, Dziennis S, Habecker BA, Lewis EJ. | 01/21/2010 |
| PHOX2A, but not PHOX2B, seems to act directly on the c-RET promoter | An in vitro approach to test the possible role of candidate factors in the transcriptional regulation of the RET proto-oncogene.
Bachetti T, Borghini S, Ravazzolo R, Ceccherini I., Free PMC Article | 01/21/2010 |
| These results demonstrate the direct interactions of the Phox2a and b and dHAND transcription factors within a noradrenergic cell type | Phox2 and dHAND transcription factors select shared and unique target genes in the noradrenergic cell type.
Rychlik JL, Hsieh M, Eiden LE, Lewis EJ. | 01/21/2010 |