212 related articles for article (PubMed ID: 30036539)
1. 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]
2. 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]
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. 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]
5. 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]
6. 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]
7. Atypical presentations associated with non-polyalanine repeat PHOX2B mutations.
Katwa U; D'Gama AM; Qualls AE; Donovan LM; Heffernan J; Shi J; Agrawal PB
Am J Med Genet A; 2018 Jul; 176(7):1627-1631. PubMed ID: 29704303
[TBL] [Abstract][Full Text] [Related]
8. 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
Hum Mutat; 2018 Feb; 39(2):219-236. PubMed ID: 29098737
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel
Schirwani S; Pysden K; Chetcuti P; Blyth M
J Clin Sleep Med; 2017 Nov; 13(11):1359-1362. PubMed ID: 28992836
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Serotonin and the ventilatory effects of etonogestrel, a gonane progestin, in a murine model of congenital central hypoventilation syndrome.
Casciato A; Bianchi L; Reverdy M; Joubert F; Delucenay-Clarke R; Parrot S; Ramanantsoa N; Sizun E; Matrot B; Straus C; Similowski T; Cayetanot F; Bodineau L
Front Endocrinol (Lausanne); 2023; 14():1077798. PubMed ID: 36896185
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Pupillometry in congenital central hypoventilation syndrome (CCHS): quantitative evidence of autonomic nervous system dysregulation.
Patwari PP; Stewart TM; Rand CM; Carroll MS; Kuntz NL; Kenny AS; Brogadir CD; Weese-Mayer DE
Pediatr Res; 2012 Mar; 71(3):280-5. PubMed ID: 22278185
[TBL] [Abstract][Full Text] [Related]
15. Adult cases of late-onset congenital central hypoventilation syndrome and paired-like homeobox 2B-mutation carriers: an additional case report and pooled analysis.
Hino A; Terada J; Kasai H; Shojima H; Ohgino K; Sasaki A; Hayasaka K; Tatsumi K
J Clin Sleep Med; 2020 Nov; 16(11):1891-1900. PubMed ID: 32741443
[TBL] [Abstract][Full Text] [Related]
16. Congenital central hypoventilation syndrome.
Ramanantsoa N; Gallego J
Respir Physiol Neurobiol; 2013 Nov; 189(2):272-9. PubMed ID: 23692929
[TBL] [Abstract][Full Text] [Related]
17. Congenital central hypoventilation syndrome: a neurocristopathy with disordered respiratory control and autonomic regulation.
Rand CM; Carroll MS; Weese-Mayer DE
Clin Chest Med; 2014 Sep; 35(3):535-45. PubMed ID: 25156769
[TBL] [Abstract][Full Text] [Related]
18. PHOX2B mutation in a Taiwanese newborn with congenital central hypoventilation syndrome.
Wang TC; Su YN; Lai MC
Pediatr Neonatol; 2014 Feb; 55(1):68-70. PubMed ID: 23597545
[TBL] [Abstract][Full Text] [Related]
19. Etonogestrel Administration Reduces the Expression of PHOX2B and Its Target Genes in the Solitary Tract Nucleus.
Cardani S; Janes TA; Saini JK; Di Lascio S; Benfante R; Fornasari D; Pagliardini S
Int J Mol Sci; 2022 Apr; 23(9):. PubMed ID: 35563209
[TBL] [Abstract][Full Text] [Related]
20. Knockdown of PHOX2B in the retrotrapezoid nucleus reduces the central CO
Cardani S; Janes TA; Betzner W; Pagliardini S
Elife; 2024 May; 13():. PubMed ID: 38727716
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
