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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2013.1
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- 1 - 15 (15page)
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TCF4 (transcription factor 4; E2-2, ITF2) is a transcription factor that when haplo-insufficient causes Pitt–Hopkins Syndrome (PTHS), an autism-spectrum disorder that is associated with pervasive developmental delay and severe intellectual disability.
The TCF4 gene is also a risk factor with highly significant linkage to schizophrenia, presumably via overexpression of the TCF4gene product in the central nervous system. This review will present an overview of the clinical manifestations of PTHS and relate those clinical attributes to the underlying molecular genetics of TCF4. In order to provide a molecular biological context for the loss of function of TCF4 in PTHS, the review will also present a brief overview of the basic biochemistry of TCF4-mediated regulation of cellular and neuronal gene expression. In the final section of this review, I will discuss and speculate upon possible roles for the TCF4 transcription factor in neuronal function and comment upon how understanding these roles may give new insights into the molecular neurobiology of human cognition.
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참고문헌 (24)
참고문헌 신청
Amiel J / 2007 / Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopat
Ardinger HH / 2012 / Pitt-Hopkins Syndrome, In GeneReviews / University of Washington
Blake DJ / 2010 / TCF4, schizophrenia, and Pitt-Hopkins syndrome / Schizophr Bull 36 : 443 ~ 447
Brockschmidt A / 2007 / Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription fact
Brockschmidt A / 2011 / Neurologic and ocular phenotype in Pitt-Hopkins syndrome and a zebrafish model / Hum Genet 130 : 645 ~ 655
Ardinger HH / 2012 / Pitt-Hopkins Syndrome, In GeneReviews / University of Washington
Blake DJ / 2010 / TCF4, schizophrenia, and Pitt-Hopkins syndrome / Schizophr Bull 36 : 443 ~ 447
Brockschmidt A / 2007 / Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription fact
Brockschmidt A / 2011 / Neurologic and ocular phenotype in Pitt-Hopkins syndrome and a zebrafish model / Hum Genet 130 : 645 ~ 655
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