Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.

The hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome is an autosomal dominant disorder caused by mutations of the dual zinc finger transcription factor, GATA3. We investigated 21 HDR probands and 14 patients with isolated hypoparathyroidism for GATA3 abnormalities. Thirteen different heter...

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Bibliografiske detaljer
Main Authors:	Ali, A, Christie, P, Grigorieva, I, Harding, B, Van Esch, H, Ahmed, S, Bitner-Glindzicz, M, Blind, E, Bloch, C, Christin, P, Clayton, P, Gecz, J, Gilbert-Dussardier, B, Guillen-Navarro, E, Hackett, A, Halac, I, Hendy, G, Lalloo, F, Mache, C, Mughal, Z, Ong, A, Rinat, C, Shaw, N, Smithson, S, Tolmie, J
Format:	Journal article
Sprog:	English
Udgivet:	2007

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af: Van Esch, H, et al.
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af: Gaynor, K, et al.
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af: Kuhl, C, et al.
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af: Kuhl, C, et al.
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Transcriptional regulation of GATA1
af: Drissen, R, et al.
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af: Zahirieh, A, et al.
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af: Bo Huang, et al.
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af: Atlal El-Assaad, et al.
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af: Li Wang, et al.
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Gata4 regulates hedgehog signaling and Gata6 expression for outflow tract development.
af: Jielin Liu, et al.
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Transcription factors GATA-4 and GATA-6 in normal and neoplastic human gastrointestinal mucosa
af: Mäki Markku, et al.
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Deletion of the major GATA1 enhancer HS 1 does not affect eosinophil GATA1 expression and eosinophil differentiation.
af: Guyot, B, et al.
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pGATA: A Positive Selection Vector Based on the Toxicity of the Transcription Factor GATA-1 to Bacteria
af: P. Trudel, et al.
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af: Fábio Tadeu Arrojo Martins, et al.
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af: Viviana C. Rosati, et al.
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Gonadectomia em gatas. Técnica cirúrgica
af: A. C. Tatarunas, et al.
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af: Looij, v, et al.
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af: Deepti Jain, et al.
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af: Christine Lomas-Francis, et al.
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Characterization of megakaryocyte GATA1-interacting proteins: the corepressor ETO2 and GATA1 interact to regulate terminal megakaryocyte maturation.
af: Hamlett, I, et al.
Udgivet: (2008)

Analysis of GATA-1 mutations in chronic myeloid leukaemia.
af: Halsey, C, et al.
Udgivet: (2006)

Globin gene activation during haemopoiesis is driven by protein complexes nucleated by GATA-1 and GATA-2.
af: Anguita, E, et al.
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Myelodysplastic syndrome due to somatic GATA1 mutation.
af: Freson, K, et al.
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af: Zahirieh, A, et al.
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af: Draper, J, et al.
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Regulation of Gata1 Expression by HS+3.5
af: Draper, J, et al.
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af: Hunter R. Gibbons, et al.
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GATA1 mutational analysis in chronic myeloid leukaemia.
af: Halsey, C, et al.
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Can somatic GATA2 mutation mimic germ line GATA2 mutation?
af: Mallika Sekhar, et al.
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An Ebox element in the proximal Gata4 promoter is required for Gata4 expression in vivo.
af: Alain Boulende Sab, et al.
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af: Aram Yang, et al.
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af: Catarina I. Gonçalves, et al.
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Activation of GATA binding protein 6 (GATA6) sustains oncogenic lineage-survival in esophageal adenocarcinoma
af: Lin, Lin, et al.
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The GATA family (vertebrates and invertebrates).
af: Patient, R, et al.
Udgivet: (2002)