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Volumn 80, Issue 6, 2011, Pages 600-601

Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype

Author keywords

[No Author keywords available]

Indexed keywords

ATR PROTEIN; DNA;

EID: 80054918942     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01711.x     Document Type: Letter
Times cited : (7)

References (12)
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    • Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.
    • Amiel J, Rio M, de Pontual L et al. Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Am J Hum Genet 2007: 80: 988-993.
    • (2007) Am J Hum Genet , vol.80 , pp. 988-993
    • Amiel, J.1    Rio, M.2    de Pontual, L.3
  • 2
    • 34247641061 scopus 로고    scopus 로고
    • Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).
    • Zweier C, Peippo MM, Hoyer J et al. Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet 2007: 80: 994-1001.
    • (2007) Am J Hum Genet , vol.80 , pp. 994-1001
    • Zweier, C.1    Peippo, M.M.2    Hoyer, J.3
  • 3
    • 0026037524 scopus 로고
    • Helix-loop-helix transcriptional activators bind to a sequence in glucocorticoid response elements of retrovirus enhancers.
    • Corneliussen B, Thornell A, Hallberg B, Grundström T. Helix-loop-helix transcriptional activators bind to a sequence in glucocorticoid response elements of retrovirus enhancers. J Virol 1991: 65: 6084-6093.
    • (1991) J Virol , vol.65 , pp. 6084-6093
    • Corneliussen, B.1    Thornell, A.2    Hallberg, B.3    Grundström, T.4
  • 4
    • 0033980393 scopus 로고    scopus 로고
    • Helix-loop-helix proteins: regulators of transcription in eucaryotic organisms.
    • Massari ME, Murre C. Helix-loop-helix proteins: regulators of transcription in eucaryotic organisms. Mol Cell Biol 2000: 20: 429-440.
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    • Massari, M.E.1    Murre, C.2
  • 5
    • 27544442994 scopus 로고    scopus 로고
    • Helix-loop-helix proteins and lymphocyte development.
    • Murre C. Helix-loop-helix proteins and lymphocyte development. Nat Immunol 2005: 6: 1079-1086.
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    • Murre, C.1
  • 6
    • 0027208834 scopus 로고
    • Consequences of heteromeric interactions among helix-loop-helix proteins.
    • Kadesch T. Consequences of heteromeric interactions among helix-loop-helix proteins. Cell Growth Differ 1993: 4: 49-55.
    • (1993) Cell Growth Differ , vol.4 , pp. 49-55
    • Kadesch, T.1
  • 7
    • 73849121676 scopus 로고    scopus 로고
    • Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations.
    • Rosenfeld JA, Leppig K, Ballif BC et al. Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations. Genet Med 2009: 11: 797-805.
    • (2009) Genet Med , vol.11 , pp. 797-805
    • Rosenfeld, J.A.1    Leppig, K.2    Ballif, B.C.3
  • 8
    • 56049110850 scopus 로고    scopus 로고
    • Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.
    • Zweier C, Sticht H, Bijlsma EK et al. Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. J Med Genet 2008: 45: 738-744.
    • (2008) J Med Genet , vol.45 , pp. 738-744
    • Zweier, C.1    Sticht, H.2    Bijlsma, E.K.3
  • 9
  • 10
    • 63749123537 scopus 로고    scopus 로고
    • Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.
    • de Pontual L, Mathieu Y, Golzio C et al. Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. Hum Mutat 2009: 30: 669-676.
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  • 11
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    • Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.
    • Brockschmidt A, Todt U, Ryu S et al. Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. Hum Mol Genet 2007: 16: 1488-1494.
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    • Brockschmidt, A.1    Todt, U.2    Ryu, S.3
  • 12
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    • Two percent of patients suspected of having Angelman syndrome have TCF4 mutations.
    • Takano K, Lyons M, Moyes C, Jones J, Schwartz CE. Two percent of patients suspected of having Angelman syndrome have TCF4 mutations. Clin Genet 2010: 78: 282-288.
    • (2010) Clin Genet , vol.78 , pp. 282-288
    • Takano, K.1    Lyons, M.2    Moyes, C.3    Jones, J.4    Schwartz, C.E.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.