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Journal Abstract Search

282 related items for PubMed ID: 15888479

  • 1. Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome.
    Bachetti T, Matera I, Borghini S, Di Duca M, Ravazzolo R, Ceccherini I.
    Hum Mol Genet; 2005 Jul 01; 14(13):1815-24. PubMed ID: 15888479
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  • 2. 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 01; 50():187-200. PubMed ID: 23103552
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  • 3. In vitro drug treatments reduce the deleterious effects of aggregates containing polyAla expanded PHOX2B proteins.
    Di Zanni E, Bachetti T, Parodi S, Bocca P, Prigione I, Di Lascio S, Fornasari D, Ravazzolo R, Ceccherini I.
    Neurobiol Dis; 2012 Jan 01; 45(1):508-18. PubMed ID: 21964250
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  • 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 17; 291(25):13375-93. PubMed ID: 27129232
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  • 8. Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions.
    Bachetti T, Bocca P, Borghini S, Matera I, Prigione I, Ravazzolo R, Ceccherini I.
    Int J Biochem Cell Biol; 2007 Jun 17; 39(2):327-39. PubMed ID: 17045833
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  • 9. Unequal crossover recombination - population screening for PHOX2B gene polyalanine polymorphism using CE.
    Hung CC, Su YN, Tsao PN, Chen PC, Lin SJ, Lin CH, Mu SC, Liu CA, Chang YC, Lin WL, Hsieh WS, Hsu SM.
    Electrophoresis; 2007 Mar 17; 28(6):894-9. PubMed ID: 17300129
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  • 11. In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation.
    Trochet D, Mathieu Y, Pontual Ld, Savarirayan R, Munnich A, Brunet JF, Lyonnet S, Goridis C, Amiel J.
    Hum Mutat; 2009 Feb 17; 30(2):E421-31. PubMed ID: 19058226
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  • 12. 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 17; 1863(7):1770-1777. PubMed ID: 28433712
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  • 14. 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 17; 176(7):1627-1631. PubMed ID: 29704303
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  • 15. Mutations that disrupt PHOXB interaction with the neuronal calcium sensor HPCAL1 impede cellular differentiation in neuroblastoma.
    Wang W, Zhong Q, Teng L, Bhatnagar N, Sharma B, Zhang X, Luther W, Haynes LP, Burgoyne RD, Vidal M, Volchenboum S, Hill DE, George RE.
    Oncogene; 2014 Jun 19; 33(25):3316-24. PubMed ID: 23873030
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  • 16. A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea.
    Amimoto Y, Okada K, Nakano H, Sasaki A, Hayasaka K, Odajima H.
    J Clin Sleep Med; 2014 Mar 15; 10(3):327-9. PubMed ID: 24634632
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  • 17. A Novel c.676_677insG PHOX2B Mutation in Congenital Central Hypoventilation Syndrome.
    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; 15(3):509-513. PubMed ID: 30853048
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  • 18. Congenital central hypoventilation syndrome.
    Ramanantsoa N, Gallego J.
    Respir Physiol Neurobiol; 2013 Nov 01; 189(2):272-9. PubMed ID: 23692929
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  • 19. 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 01; 8(12):e1528. PubMed ID: 33047879
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  • 20. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.
    Amiel J, Laudier B, Attié-Bitach T, Trang H, de Pontual L, Gener B, Trochet D, Etchevers H, Ray P, Simonneau M, Vekemans M, Munnich A, Gaultier C, Lyonnet S.
    Nat Genet; 2003 Apr 01; 33(4):459-61. PubMed ID: 12640453
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