BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

358 related articles for article (PubMed ID: 22922260)

  • 1. Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expression.
    Nagashimada M; Ohta H; Li C; Nakao K; Uesaka T; Brunet JF; Amiel J; Trochet D; Wakayama T; Enomoto H
    J Clin Invest; 2012 Sep; 122(9):3145-58. PubMed ID: 22922260
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.
    Berry-Kravis EM; Zhou L; Rand CM; Weese-Mayer DE
    Am J Respir Crit Care Med; 2006 Nov; 174(10):1139-44. PubMed ID: 16888290
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome.
    Di Lascio S; Bachetti T; Saba E; Ceccherini I; Benfante R; Fornasari D
    Neurobiol Dis; 2013 Feb; 50():187-200. PubMed ID: 23103552
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Variable phenotypes in congenital central hypoventilation syndrome with
    Kasi AS; Li H; Jurgensen TJ; Guglani L; Keens TG; Perez IA
    J Clin Sleep Med; 2021 Oct; 17(10):2049-2055. PubMed ID: 33983112
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Causative and common PHOX2B variants define a broad phenotypic spectrum.
    Bachetti T; Ceccherini I
    Clin Genet; 2020 Jan; 97(1):103-113. PubMed ID: 31444792
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome.
    Cain JT; Kim DI; Quast M; Shivega WG; Patrick RJ; Moser C; Reuter S; Perez M; Myers A; Weimer JM; Roux KJ; Landsverk M
    Am J Med Genet A; 2017 May; 173(5):1200-1207. PubMed ID: 28371199
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With PHOX2B Non-Polyalanine Repeat Expansion Mutations.
    Heide S; Masliah-Planchon J; Isidor B; Guimier A; Bodet D; Coze C; Deville A; Thebault E; Pasquier CJ; Cassagnau E; Pierron G; Clément N; Schleiermacher G; Amiel J; Delattre O; Peuchmaur M; Bourdeaut F
    Pediatr Blood Cancer; 2016 Jan; 63(1):71-7. PubMed ID: 26375764
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of GLI Mutations in Patients With Hirschsprung Disease That Disrupt Enteric Nervous System Development in Mice.
    Liu JA; Lai FP; Gui HS; Sham MH; Tam PK; Garcia-Barcelo MM; Hui CC; Ngan ES
    Gastroenterology; 2015 Dec; 149(7):1837-1848.e5. PubMed ID: 26261006
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A Novel c.676_677insG
    Ye G; Han D; Jiang Y; Wang Z; Zhou Y; Lin X; Chen W; Chen M; Xu J; Yang Y; Guo Q
    J Clin Sleep Med; 2019 Mar; 15(3):509-513. PubMed ID: 30853048
    [No Abstract]   [Full Text] [Related]  

  • 10. Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease.
    Di Zanni E; Adamo A; Belligni E; Lerone M; Martucciello G; Mattioli G; Pini Prato A; Ravazzolo R; Silengo M; Bachetti T; Ceccherini I
    Biochim Biophys Acta Mol Basis Dis; 2017 Jul; 1863(7):1770-1777. PubMed ID: 28433712
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Desogestrel down-regulates PHOX2B and its target genes in progesterone responsive neuroblastoma cells.
    Cardani S; Di Lascio S; Belperio D; Di Biase E; Ceccherini I; Benfante R; Fornasari D
    Exp Cell Res; 2018 Sep; 370(2):671-679. PubMed ID: 30036539
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Transcriptional regulation of RET by Nkx2-1, Phox2b, Sox10, and Pax3.
    Leon TY; Ngan ES; Poon HC; So MT; Lui VC; Tam PK; Garcia-Barcelo MM
    J Pediatr Surg; 2009 Oct; 44(10):1904-12. PubMed ID: 19853745
    [TBL] [Abstract][Full Text] [Related]  

  • 13. PHOX2B: a diagnostic cornerstone in neurocristopathies and neuroblastomas.
    Windels ML; Cordier F; Van Dorpe J; Ferdinande L; Creytens D
    J Clin Pathol; 2024 May; 77(6):378-382. PubMed ID: 38458747
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B.
    Parodi S; Di Zanni E; Di Lascio S; Bocca P; Prigione I; Fornasari D; Pennuto M; Bachetti T; Ceccherini I
    J Mol Med (Berl); 2012 Sep; 90(9):1025-35. PubMed ID: 22307522
    [TBL] [Abstract][Full Text] [Related]  

  • 15. PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.
    Trochet D; O'Brien LM; Gozal D; Trang H; Nordenskjöld A; Laudier B; Svensson PJ; Uhrig S; Cole T; Niemann S; Munnich A; Gaultier C; Lyonnet S; Amiel J
    Am J Hum Genet; 2005 Mar; 76(3):421-6. PubMed ID: 15657873
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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
    Mol Genet Genomic Med; 2020 Dec; 8(12):e1528. PubMed ID: 33047879
    [TBL] [Abstract][Full Text] [Related]  

  • 17. PHOX2B mutations in patients with Ondine-Hirschsprung disease and a review of the literature.
    Kwon MJ; Lee GH; Lee MK; Kim JY; Yoo HS; Ki CS; Chang YS; Kim JW; Park WS
    Eur J Pediatr; 2011 Oct; 170(10):1267-71. PubMed ID: 21373876
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Variable human phenotype associated with novel deletions of the PHOX2B gene.
    Jennings LJ; Yu M; Rand CM; Kravis N; Berry-Kravis EM; Patwari PP; Weese-Mayer DE
    Pediatr Pulmonol; 2012 Feb; 47(2):153-61. PubMed ID: 21830319
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Prevalence and functional consequence of PHOX2B mutations in neuroblastoma.
    Raabe EH; Laudenslager M; Winter C; Wasserman N; Cole K; LaQuaglia M; Maris DJ; Mosse YP; Maris JM
    Oncogene; 2008 Jan; 27(4):469-76. PubMed ID: 17637745
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Alanine Expansions Associated with Congenital Central Hypoventilation Syndrome Impair PHOX2B Homeodomain-mediated Dimerization and Nuclear Import.
    Di Lascio S; Belperio D; Benfante R; Fornasari D
    J Biol Chem; 2016 Jun; 291(25):13375-93. PubMed ID: 27129232
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.