Transcription factor haploinsufficiency: when half a loaf is not enough - PubMed (original) (raw)

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Transcription factor haploinsufficiency: when half a loaf is not enough

J G Seidman et al. J Clin Invest. 2002 Feb.

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• Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice.
  Pohlenz J, Dumitrescu A, Zundel D, Martiné U, Schönberger W, Koo E, Weiss RE, Cohen RN, Kimura S, Refetoff S. Pohlenz J, et al. J Clin Invest. 2002 Feb;109(4):469-73. doi: 10.1172/JCI14192. J Clin Invest. 2002. PMID: 11854318 Free PMC article.
• Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency.
  Krude H, Schütz B, Biebermann H, von Moers A, Schnabel D, Neitzel H, Tönnies H, Weise D, Lafferty A, Schwarz S, DeFelice M, von Deimling A, van Landeghem F, DiLauro R, Grüters A. Krude H, et al. J Clin Invest. 2002 Feb;109(4):475-80. doi: 10.1172/JCI14341. J Clin Invest. 2002. PMID: 11854319 Free PMC article.

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References

1. 1. Krude H, et al. Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. J Clin Invest. 2002;109:475–480. DOI:10.1172/JCI200214341. - PMC - PubMed
2. 1. Pohlenz J, et al. Partial deficiency of Thyroid transcription factor 1 produces predominantly neurological defects in humans and mice. J Clin Invest. 2002;109:469–473. DOI:10.1172/JCI200214192. - PMC - PubMed
3. 1. Kimura S, et al. The T/ebp null mouse: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary. Genes Dev. 1996;10:60–69. - PubMed
4. 1. McKusick, V.A. 2002. OMIM™: Online Mend-elian Inheritance in Man. http://www.ncbi.nlm.nih.gov/Omim/.
5. 1. Byers PH. Killing the messenger: new insights into nonsense-mediated mRNA decay. J Clin Invest. 2002;109:3–6. DOI:10.1172/JCI200214841. - PMC - PubMed

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