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Volumn 98, Issue 4, 2013, Pages

Structural pituitary abnormalities associated with CHARGE syndrome

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOTROPIN; FOLLITROPIN; GROWTH HORMONE; HYDROCORTISONE; LUTEINIZING HORMONE; RECOMBINANT GROWTH HORMONE; SOMATOMEDIN BINDING PROTEIN; SOMATOMEDIN C; TESTOSTERONE; THYROTROPIN; THYROXINE;

EID: 84876273989     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2012-3467     Document Type: Article
Times cited : (39)

References (27)
  • 1
    • 77649225132 scopus 로고    scopus 로고
    • Molecular and phenotypicaspects of CHD7 mutation in CHARGE syndrome
    • Zentner GE, Layman WS, Martin D.M., Scacheri PC Molecular and phenotypicaspects of CHD7 mutation in CHARGE syndrome. Am J Med Genet A. 2010; 152A:674-686.
    • (2010) Am J Med Genet A , vol.152 A , pp. 674-686
    • Zentner, G.E.1    Layman, W.S.2    Martin, D.M.3    Scacheri, P.C.4
  • 2
    • 14344251519 scopus 로고    scopus 로고
    • An epi-demiological analysis of CHARGE syndrome: Preliminary results from a canadian study
    • Issekutz KA, Graham JM Jr, Prasad C, Smith IM, Blake KD An epi-demiological analysis of CHARGE syndrome: preliminary results from a Canadian study. Am J Med Genet A. 2005; 133A:309-317.
    • (2005) Am J Med Genet A , vol.133 A , pp. 309-317
    • Issekutz, K.A.1    Graham Jr., J.M.2    Prasad, C.3    Smith, I.M.4    Blake, K.D.5
  • 3
    • 33645781251 scopus 로고    scopus 로고
    • CHARGE syndrome: The phenotypic spectrum of mutations in the CHD7 gene
    • Jongmans MC, Admiraal RJ, van der Donk KP, et al. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet. 2006; 43:306-314.
    • (2006) J Med Genet. , vol.43 , pp. 306-314
    • Jongmans, M.C.1    Admiraal, R.J.2    Van Der Donk, K.P.3
  • 5
    • 64149122182 scopus 로고    scopus 로고
    • Genomic distribution of CHD7 on chromatin tracks of H3K4 methylation patterns
    • Schnetz MP, Bartels CF, Shastri K, et al Genomic distribution of CHD7 on chromatin tracks of H3K4 methylation patterns. Genome Res. 2009; 19:590-601.
    • (2009) Genome Res. , vol.19 , pp. 590-601
    • Schnetz, M.P.1    Bartels, C.F.2    Shastri, K.3
  • 6
    • 80053385843 scopus 로고    scopus 로고
    • The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotrophic hypo-gonadism and kallmann syndrome
    • Kim HG, Layman LC The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotrophic hypo-gonadism and Kallmann syndrome. Mol Cell Endocrinol. 2011; 346(1-2):74-83.
    • (2011) Mol Cell Endocrinol. , vol.346 , Issue.1-2 , pp. 74-83
    • Kim, H.G.1    Layman, L.C.2
  • 7
    • 77954587234 scopus 로고    scopus 로고
    • Chromodomain proteins in development: Lessons from CHARGE syndrome
    • Layman WS, Hurd EA, Martin DM Chromodomain proteins in development: lessons from CHARGE syndrome. Clin Genet. 2010; 78(1):11-20.
    • (2010) Clin Genet. , vol.78 , Issue.1 , pp. 11-20
    • Layman, W.S.1    Hurd, E.A.2    Martin, D.M.3
  • 8
    • 33947266958 scopus 로고    scopus 로고
    • Loss of chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues
    • Hurd EA, Capers PL, Blauwkamp M.N., et al Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues. Mamm Genome. 2007; 18(2):94-104.
    • (2007) Mamm Genome , vol.18 , Issue.2 , pp. 94-104
    • Hurd, E.A.1    Capers, P.L.2    Blauwkamp, M.N.3
  • 9
    • 37549039003 scopus 로고    scopus 로고
    • Familial CHARGE syndrome and the CHD7 gene: A recurrent missense mutation, intrafamilial recurrence and variability
    • Jongmans MC, Hoefsloot LH, van der Donk KP, et al. Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability. Am J Med Genet A. 2008; 146A(1):43-50.
    • (2008) Am J Med Genet A , vol.146 A , Issue.1 , pp. 43-50
    • Jongmans, M.C.1    Hoefsloot, L.H.2    Van Der Donk, K.P.3
  • 10
    • 33645128921 scopus 로고    scopus 로고
    • Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development
    • Sanlavile D, Etchevers HC, Gonzales M, et al Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Gen. 2006; 43(3):211-217.
    • (2006) J Med Gen , vol.43 , Issue.3 , pp. 211-217
    • Sanlavile, D.1    Etchevers, H.C.2    Gonzales, M.3
  • 11
    • 79960802234 scopus 로고    scopus 로고
    • Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome
    • Layman WS, Hurd EA, Martin DM Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome. Hum Mol Genet. 2011; 20(16):3138-3150.
    • (2011) Hum Mol Genet. , vol.20 , Issue.16 , pp. 3138-3150
    • Layman, W.S.1    Hurd, E.A.2    Martin, D.M.3
  • 12
    • 53249149000 scopus 로고    scopus 로고
    • Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and kallmann syndrome
    • Kim HG, Kurth I, Lan F., et al Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet. 2008; 83(4):511-519.
    • (2008) Am J Hum Genet. , vol.83 , Issue.4 , pp. 511-519
    • Kim, H.G.1    Kurth, I.2    Lan, F.3
  • 13
    • 77957344798 scopus 로고    scopus 로고
    • CHD7 targets active gene enhancer elements to modulate ES cell-specific geneexpression
    • Schnetz MP, Handoko L, Akhtar-Zaidi B, et al CHD7 targets active gene enhancer elements to modulate ES cell-specific geneexpression. PLoS Genet. 2010; 6(7):e1001023.
    • (2010) PLoS Genet. , vol.6 , Issue.7
    • Schnetz, M.P.1    Handoko, L.2    Akhtar-Zaidi, B.3
  • 14
    • 79957600785 scopus 로고    scopus 로고
    • Sox2 cooperates with chd7 to regulate genes that are mutated in human syndromes
    • Engelen E, Akinci U, Bryne J.C., et al Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes. Nat Genet. 2011; 43(6):607-611.
    • (2011) Nat Genet. , vol.43 , Issue.6 , pp. 607-611
    • Engelen, E.1    Akinci, U.2    Bryne, J.C.3
  • 15
    • 33646162880 scopus 로고    scopus 로고
    • Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome
    • Williamson KA, Hever AM, Rainger J, et al Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. Hum Mol Genet. 2006; 15(9):1413-1422.
    • (2006) Hum Mol Genet. , vol.15 , Issue.9 , pp. 1413-1422
    • Williamson, K.A.1    Hever, A.M.2    Rainger, J.3
  • 16
    • 33748298959 scopus 로고    scopus 로고
    • Mutations within sox2/ SOX2 are associated with Abnormalities in the hypothalamo-pitu-itary-gonadal axis in mice and humans
    • Kelberman D, Rizzoti K, Avilion A., et al Mutations within Sox2/ SOX2 are associated with abnormalities in the hypothalamo-pitu-itary-gonadal axis in mice and humans. J Clin Invest. 2006; 116(9): 2442-2455.
    • (2006) J Clin Invest. , vol.116 , Issue.9 , pp. 2442-2455
    • Kelberman, D.1    Rizzoti, K.2    Avilion, A.3
  • 17
    • 79952524771 scopus 로고    scopus 로고
    • Septo-optic dysplasia and other midline defects: The role of transcription factors: Hesx1 and beyond
    • McCabe MJ, Alatzoglou KS, Dattani MT Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond. Best Pract Res Clin Endocrinol Metab. 2011; 25(1):115-124.
    • (2011) Best Pract Res Clin Endocrinol Metab. , vol.25 , Issue.1 , pp. 115-124
    • McCabe, M.J.1    Alatzoglou, K.S.2    Dattani, M.T.3
  • 18
    • 84861995511 scopus 로고    scopus 로고
    • PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption
    • Reynaud R, Jayakody SA, Monnier C, et al PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption. J Clin Endocrinol Metab. 2012; 97(6):E1068-E1073.
    • (2012) J Clin Endocrinol Metab. , vol.97 , Issue.6
    • Reynaud, R.1    Jayakody, S.A.2    Monnier, C.3
  • 19
    • 26244436980 scopus 로고    scopus 로고
    • CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development
    • Pinto G, Abadie V, Mesnage R., et al CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development. J Clin Endocrinol Metab. 2005; 90(10):5621-5626.
    • (2005) J Clin Endocrinol Metab. , vol.90 , Issue.10 , pp. 5621-5626
    • Pinto, G.1    Abadie, V.2    Mesnage, R.3
  • 20
    • 0042320558 scopus 로고    scopus 로고
    • CHARGE association and secondary hypoadrenalism
    • James PA, Aftimos S, Hofman P. CHARGE association and secondary hypoadrenalism. Am J Med Genet A. 2003; 117A(2):177-180.
    • (2003) Am J Med Genet A , vol.117 A , Issue.2 , pp. 177-180
    • James, P.A.1    Aftimos, S.2    Hofman, P.3
  • 21
    • 40849095911 scopus 로고    scopus 로고
    • Endocrine and radiological studiesinpatients with molecularly confirmed CHARGE syndrome
    • Asakura Y, Toyota Y, Muroya K., et al Endocrine and radiological studiesinpatients with molecularly confirmed CHARGE syndrome. J Clin Endocrinol Metab. 2008; 93(3):920-924.
    • (2008) J Clin Endocrinol Metab. , vol.93 , Issue.3 , pp. 920-924
    • Asakura, Y.1    Toyota, Y.2    Muroya, K.3
  • 22
    • 78049517995 scopus 로고    scopus 로고
    • Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ec-topic posterior pituitary lobe without holoprosencephaly
    • França M.M., Jorge AA, Carvalho L.R., et al Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ec-topic posterior pituitary lobe without holoprosencephaly. J Clin Endocrinol Metab. 2010; 95(11):E384-E391.
    • (2010) J Clin Endocrinol Metab. , vol.95 , Issue.11
    • França, M.M.1    Jorge, A.A.2    Carvalho, L.R.3
  • 23
    • 84867145497 scopus 로고    scopus 로고
    • SOX2 regulates the hypothalamic-pituitary axis at multiple levels
    • Jayakody S, Andoniadou CL, Gaston-Massuet C, et al SOX2 regulates the hypothalamic-pituitary axis at multiple levels. J Clin Invest. 2012; 122(10):3635-3646.
    • (2012) J Clin Invest. , vol.122 , Issue.10 , pp. 3635-3646
    • Jayakody, S.1    Andoniadou, C.L.2    Gaston-Massuet, C.3
  • 24
    • 65549097631 scopus 로고    scopus 로고
    • Defectsinneural stemcell proliferation and olfaction in chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome
    • Layman WS, McEwen DP, Beyer L.A., et al Defectsinneural stemcell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome. Hum Mol Genet. 2009; 18(11):1909-1923.
    • (2009) Hum Mol Genet. , vol.18 , Issue.11 , pp. 1909-1923
    • Layman, W.S.1    McEwen, D.P.2    Beyer, L.A.3
  • 25
    • 84860732965 scopus 로고    scopus 로고
    • The results of CHD7 analysis in clinically well-characterized patients with kallmann syndrome
    • Bergman JE, deRonde W, Jongmans M.C., et al The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome. J Clin Endocrinol Metab. 2012; 97(5):E858-E862.
    • (2012) J Clin Endocrinol Metab. , vol.97 , Issue.5
    • Bergman, J.E.1    De Ronde, W.2    Jongmans, M.C.3
  • 27
    • 31544463054 scopus 로고    scopus 로고
    • Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation
    • Lalani SR, Safiulla AM, Fernback S.D., et al Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006; 78(2):303-314.
    • (2006) Am J Hum Genet. , vol.78 , Issue.2 , pp. 303-314
    • Lalani, S.R.1    Safiulla, A.M.2    Fernback, S.D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.