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Journal Abstract Search

319 related items for PubMed ID: 24728844

  • 1. CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance.
    Schulz Y, Wehner P, Opitz L, Salinas-Riester G, Bongers EM, van Ravenswaaij-Arts CM, Wincent J, Schoumans J, Kohlhase J, Borchers A, Pauli S.
    Hum Genet; 2014 Aug; 133(8):997-1009. PubMed ID: 24728844
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  • 2. Sema3a plays a role in the pathogenesis of CHARGE syndrome.
    Ufartes R, Schwenty-Lara J, Freese L, Neuhofer C, Möller J, Wehner P, van Ravenswaaij-Arts CMA, Wong MTY, Schanze I, Tzschach A, Bartsch O, Borchers A, Pauli S.
    Hum Mol Genet; 2018 Apr 15; 27(8):1343-1352. PubMed ID: 29432577
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  • 3. Sema3E is required for migration of cranial neural crest cells in zebrafish: Implications for the pathogenesis of CHARGE syndrome.
    Liu ZZ, Guo J, Lu Y, Liu W, Fu X, Yao T, Zhou Y, Xu HA.
    Int J Exp Pathol; 2019 Aug 15; 100(4):234-243. PubMed ID: 31464029
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  • 5. Knockdown of fbxl10/kdm2bb rescues chd7 morphant phenotype in a zebrafish model of CHARGE syndrome.
    Balow SA, Pierce LX, Zentner GE, Conrad PA, Davis S, Sabaawy HE, McDermott BM, Scacheri PC.
    Dev Biol; 2013 Oct 01; 382(1):57-69. PubMed ID: 23920116
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  • 6. Rescue of neural crest-derived phenotypes in a zebrafish CHARGE model by Sox10 downregulation.
    Asad Z, Pandey A, Babu A, Sun Y, Shevade K, Kapoor S, Ullah I, Ranjan S, Scaria V, Bajpai R, Sachidanandan C.
    Hum Mol Genet; 2016 Aug 15; 25(16):3539-3554. PubMed ID: 27418670
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  • 7. The chromatin remodeling protein CHD7, mutated in CHARGE syndrome, is necessary for proper craniofacial and tracheal development.
    Sperry ED, Hurd EA, Durham MA, Reamer EN, Stein AB, Martin DM.
    Dev Dyn; 2014 Sep 15; 243(9):1055-66. PubMed ID: 24975120
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  • 8. CHD7 regulates cardiovascular development through ATP-dependent and -independent activities.
    Yan S, Thienthanasit R, Chen D, Engelen E, Brühl J, Crossman DK, Kesterson R, Wang Q, Bouazoune K, Jiao K.
    Proc Natl Acad Sci U S A; 2020 Nov 17; 117(46):28847-28858. PubMed ID: 33127760
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  • 9. CHARGE syndrome modeling using patient-iPSCs reveals defective migration of neural crest cells harboring CHD7 mutations.
    Okuno H, Renault Mihara F, Ohta S, Fukuda K, Kurosawa K, Akamatsu W, Sanosaka T, Kohyama J, Hayashi K, Nakajima K, Takahashi T, Wysocka J, Kosaki K, Okano H.
    Elife; 2017 Nov 28; 6():. PubMed ID: 29179815
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  • 10. Inappropriate p53 activation during development induces features of CHARGE syndrome.
    Van Nostrand JL, Brady CA, Jung H, Fuentes DR, Kozak MM, Johnson TM, Lin CY, Lin CJ, Swiderski DL, Vogel H, Bernstein JA, Attié-Bitach T, Chang CP, Wysocka J, Martin DM, Attardi LD.
    Nature; 2014 Oct 09; 514(7521):228-32. PubMed ID: 25119037
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  • 11. CHARGEd with neural crest defects.
    Pauli S, Bajpai R, Borchers A.
    Am J Med Genet C Semin Med Genet; 2017 Dec 09; 175(4):478-486. PubMed ID: 29082625
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  • 12. Study of smell and reproductive organs in a mouse model for CHARGE syndrome.
    Bergman JE, Bosman EA, van Ravenswaaij-Arts CM, Steel KP.
    Eur J Hum Genet; 2010 Feb 09; 18(2):171-7. PubMed ID: 19809474
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  • 13. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
    Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA, Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW.
    Am J Hum Genet; 2006 Feb 09; 78(2):303-14. PubMed ID: 16400610
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  • 14. Role of Chd7 in zebrafish: a model for CHARGE syndrome.
    Patten SA, Jacobs-McDaniels NL, Zaouter C, Drapeau P, Albertson RC, Moldovan F.
    PLoS One; 2012 Feb 09; 7(2):e31650. PubMed ID: 22363697
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  • 15. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.
    Sanlaville D, Etchevers HC, Gonzales M, Martinovic J, Clément-Ziza M, Delezoide AL, Aubry MC, Pelet A, Chemouny S, Cruaud C, Audollent S, Esculpavit C, Goudefroye G, Ozilou C, Fredouille C, Joye N, Morichon-Delvallez N, Dumez Y, Weissenbach J, Munnich A, Amiel J, Encha-Razavi F, Lyonnet S, Vekemans M, Attié-Bitach T.
    J Med Genet; 2006 Mar 09; 43(3):211-217. PubMed ID: 16169932
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  • 16. CHARGE syndrome protein CHD7 regulates epigenomic activation of enhancers in granule cell precursors and gyrification of the cerebellum.
    Reddy NC, Majidi SP, Kong L, Nemera M, Ferguson CJ, Moore M, Goncalves TM, Liu HK, Fitzpatrick JAJ, Zhao G, Yamada T, Bonni A, Gabel HW.
    Nat Commun; 2021 Sep 29; 12(1):5702. PubMed ID: 34588434
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