| [Study of GCN repeats of PHOX2B gene among individuals from southwest China and diagnosis of two patients with Congenital central hypoventilation syndrome]. | [Study of GCN repeats of PHOX2B gene among individuals from southwest China and diagnosis of two patients with Congenital central hypoventilation syndrome].
Qin S, Ye M, Yin Y, Wang J, Wang X, Zhang Z, Chen X, Yan M, He Y, Yi D, Deng Q. | 01/10/2024 |
| Combined analysis of PHOX2B at two time points and its value for further risk stratification in high-risk neuroblastoma. | Combined analysis of PHOX2B at two time points and its value for further risk stratification in high-risk neuroblastoma.
Yue Z, Gao C, Xing T, Zhao W, Duan C, Wang X, Jin M, Su Y. | 03/31/2023 |
| Spectrum of paired-like homeobox 2b immunoexpression in pediatric brain tumors with embryonal morphology. | Spectrum of paired-like homeobox 2b immunoexpression in pediatric brain tumors with embryonal morphology.
Alturkustani M, Walker AD, Tran I, Snuderl M, Cotter JA., Free PMC Article | 09/3/2022 |
| The expression of PHOX2B in bone marrow and peripheral blood predicts adverse clinical outcome in non-high-risk neuroblastoma. | The expression of PHOX2B in bone marrow and peripheral blood predicts adverse clinical outcome in non-high-risk neuroblastoma.
Fan H, Xing T, Hong H, Duan C, Zhao W, Zhao Q, Wang X, Huang C, Zhu S, Jin M, Su Y, Gao C, Ma X. | 05/14/2022 |
| Reduced PHOX2B stability causes axonal growth impairment in motor neurons with TARDBP mutations. | Reduced PHOX2B stability causes axonal growth impairment in motor neurons with TARDBP mutations.
Mitsuzawa S, Suzuki N, Akiyama T, Ishikawa M, Sone T, Kawada J, Funayama R, Shirota M, Mitsuhashi H, Morimoto S, Ikeda K, Shijo T, Ohno A, Nakamura N, Ono H, Ono R, Osana S, Nakagawa T, Nishiyama A, Izumi R, Kaneda S, Ikeuchi Y, Nakayama K, Fujii T, Warita H, Okano H, Aoki M., Free PMC Article | 03/5/2022 |
| Variable phenotypes in congenital central hypoventilation syndrome with PHOX2B nonpolyalanine repeat mutations. | Variable phenotypes in congenital central hypoventilation syndrome with PHOX2B nonpolyalanine repeat mutations.
Kasi AS, Li H, Jurgensen TJ, Guglani L, Keens TG, Perez IA., Free PMC Article | 12/11/2021 |
| Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation. | Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation.
Meylemans A, Depuydt P, De Baere E, Hertegonne K, Derom E, Dermaut B, Hemelsoet D. | 11/6/2021 |
| Phox2b Immunohistochemical Staining in Detecting Enteric Neural Crest Cells in Hirschsprung Disease. | Phox2b Immunohistochemical Staining in Detecting Enteric Neural Crest Cells in Hirschsprung Disease.
Alturkustani M, Shillingford N, Zhou S, Wang L, Warren M. | 10/23/2021 |
| Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS). | Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS).
Zhou A, Rand CM, Hockney SM, Niewijk G, Reineke P, Speare V, Berry-Kravis EM, Zhou L, Jennings LJ, Yu M, Ceccherini I, Bachetti T, Pennock M, Yap KL, Weese-Mayer DE. | 10/23/2021 |
| NH2-terminal deletion of specific phosphorylation sites on PHOX2B disrupts the formation of enteric neurons in vivo. | NH(2)-terminal deletion of specific phosphorylation sites on PHOX2B disrupts the formation of enteric neurons in vivo.
Chang DF, Gilliam EA, Nucho LA, Garcia J, Shevchenko Y, Zuber SM, Squillaro AI, Maselli KM, Huang S, Spence JR, Grikscheit TC. | 07/31/2021 |
| A respiratory/Hirschsprung phenotype in a three-generation family associated with a novel pathogenic PHOX2B splice donor mutation. | A respiratory/Hirschsprung phenotype in a three-generation family associated with a novel pathogenic PHOX2B splice donor mutation.
Pace NP, Pace Bardon M, Borg I., Free PMC Article | 06/26/2021 |
| Causative and common PHOX2B variants define a broad phenotypic spectrum. | Causative and common PHOX2B variants define a broad phenotypic spectrum.
Bachetti T, Ceccherini I. | 02/6/2021 |
| Neuroblastoma patient-derived cultures are enriched for a mesenchymal gene signature and reflect individual drug response. | Neuroblastoma patient-derived cultures are enriched for a mesenchymal gene signature and reflect individual drug response.
Hee E, Wong MK, Tan SH, Choo Z, Kuick CH, Ling S, Yong MH, Jain S, Lian DWQ, Ng EHQ, Yong YFL, Ren MH, Syed Sulaiman N, Low SYY, Chua YW, Syed MF, Lim TKH, Soh SY, Iyer P, Seng MSF, Lam JCM, Tan EEK, Chan MY, Tan AM, Chen Y, Chen Z, Chang KTE, Loh AHP., Free PMC Article | 12/19/2020 |
| Association between PHOX2B gene rs28647582 T>C polymorphism and Wilms tumor susceptibility. | Association between PHOX2B gene rs28647582 T>C polymorphism and Wilms tumor susceptibility.
Lin A, Fu W, Wang W, Zhu J, Liu J, Xia H, Liu G, He J., Free PMC Article | 09/19/2020 |
| These new genetic findings indicate the potential pleiotropic effects of PHOX2B in both HSCR and neuroblastoma, which could guide the development of therapeutic targets for the treatment of related neurodevelopmental disorders. | Pleiotropic effect of common PHOX2B variants in Hirschsprung disease and neuroblastoma.
Zhao J, Zhu Y, Xie X, Yao Y, Zhang J, Zhang R, Huang L, Cheng J, Xia H, He J, Zhang Y., Free PMC Article | 05/16/2020 |
| These findings suggest that Phox2b may play a role in intestinal homeostasis and that its dysregulation may be associated with gastrointestinal disorders in adulthood. | Altered enteric expression of the homeobox transcription factor Phox2b in patients with diverticular disease.
Cossais F, Lange C, Barrenschee M, Möding M, Ebsen M, Vogel I, Böttner M, Wedel T., Free PMC Article | 05/9/2020 |
| High PHOX2B expression is associated with Bone metastasis in neuroblastoma. | The role of β-catenin and paired-like homeobox 2B (PHOX2B) expression in neuroblastoma patients; predictive and prognostic value.
El-Shazly SS, Hassan NM, Abdellateif MS, El Taweel MA, Abd-Elwahab N, Ebeid EN. | 02/29/2020 |
| This is the first report of a patient with PHOX2B 20/27 PARM with a mild phenotype diagnosed during adulthood. This unusual presentation supports the screening for PHOX2B mutations in parents of children with CCHS. | Adult With PHOX2B Mutation and Late-Onset Congenital Central Hypoventilation Syndrome.
Kasi AS, Kun SS, Keens TG, Perez IA., Free PMC Article | 12/21/2019 |
| Due to the key role played by PHOX2B in the development of the autonomic nervous system, this genetic defect may also have several pathological consequences. 14 patients with PHOX2B mutation-confirmed Congenital central hypoventilation syndrome (CCHS). | Systemic oxidative stress in congenital central hypoventilation syndrome.
Degl'Innocenti D, Becatti M, Peruzzi M, Fiorillo C, Ramazzotti M, Nassi N, Arzilli C, Piumelli R. | 09/14/2019 |
| Congenital central hypoventilation syndrome due to an 8-base pair duplication in PHOX2B; c.691_698dupGGCCCGGG (p.Gly234Alafs*78) with a predominant enteral and neural crest phenotype and a relatively mild respiratory phenotype. | Expanding the phenotype of congenital central hypoventilation syndrome impacts management decisions.
Byers HM, Chen M, Gelfand AS, Ong B, Jendras M, Glass IA., Free PMC Article | 05/25/2019 |
| A high specificity of PHOX2B gene expression for the neuroblastoma cells with no expression in normal hematopoietic precursors was confirmed | Prospective investigation of applicability and the prognostic significance of bone marrow involvement in patients with neuroblastoma detected by quantitative reverse transcription PCR.
Druy AE, Shorikov EV, Tsaur GA, Popov AM, Zaychikov AN, Tuponogov SN, Saveliev LI, Tytgat GAM, Fechina LG. | 05/25/2019 |
| Non-polyalanine repeat PHOX2B mutations are associated with atypical Congenital central hypoventilation syndrome. | Atypical presentations associated with non-polyalanine repeat PHOX2B mutations.
Katwa U, D'Gama AM, Qualls AE, Donovan LM, Heffernan J, Shi J, Agrawal PB., Free PMC Article | 05/25/2019 |
| This is the first report of an association between CHD and mutation in PHOX2B. Results are highly suggestive that alteration or elimination of the homeobox domain conveys significant risk for associated CHD or aortic arch variation. | Congenital heart disease and aortic arch variants associated with mutation in PHOX2B.
Lombardo RC, Porollo A, Cnota JF, Hopkin RJ. | 05/18/2019 |
| High levels of bone marrow TH and PHOX2B and of peripheral blood PHOX2B at diagnosis allow early identification of a group of high-risk infant and toddlers with neuroblastoma who may be candidates for alternative treatments | Event-free survival of infants and toddlers enrolled in the HR-NBL-1/SIOPEN trial is associated with the level of neuroblastoma mRNAs at diagnosis.
Corrias MV, Parodi S, Tchirkov A, Lammens T, Vicha A, Pasqualini C, Träger C, Yáñez Y, Dallorso S, Varesio L, Luksch R, Laureys G, Valteau-Couanet D, Canete A, Pöetschger U, Ladenstein R, Burchill SA. | 05/11/2019 |
| Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome | Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome.
Di Lascio S, Benfante R, Di Zanni E, Cardani S, Adamo A, Fornasari D, Ceccherini I, Bachetti T., Free PMC Article | 01/12/2019 |