T-box genes in human disorders

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T-box genes in human disorders.

The T-box gene family encodes a large family of transcription factors with more than 20 members identified in humans so far, and homologues in many other organisms. A number of human disorders have been linked to mutations in T-box genes, confirming their medical importance. They include Holt- Oram syndrome/TBX5, Ulnar-Mammary syndrome/TBX3, and more recently DiGeorge syndrome/TBX1, ACTH defici...

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T-box genes in vertebrate development.

The myriad developmental roles served by the T-box family of transcription factor genes defy easy categorization. Present in all metazoans, the T-box genes are involved in early embryonic cell fate decisions, regulation of the development of extraembryonic structures, embryonic patterning, and many aspects of organogenesis. They are unusual in displaying dosage sensitivity in most instances. In...

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Expression of Drosophila omb-related T-box genes in the developing human and mouse neural retina.

PURPOSE To examine the role of Drosophila optomotor blind (omb)-related T-box genes in development of human and mouse retina. METHODS Mouse Tbx2, Tbx3, and Tbx5 and human TBX2 cDNAs were isolated from retinal cDNA libraries by hybridization to the Drosophila omb gene. Gene expression patterns in developing retina were analyzed by in situ hybridization. RESULTS TBX2/Tbx2, TBX3/Tbx3, and TBX5...

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Expression of T-box genes Tbx2–Tbx5 during chick organogenesis

T-box genes encode putative transcription factors implicated in diverse developmental processes (Papaioannou, V.E. and Silver, L.M., 1998. BioEssays 20, 9-19). We have previously reported the embryonic expression patterns of T-box genes in mice (Chapman, D.L., Garvey, N., Hancock, S., Alexiou, M., Agulnik, S.I., Gibson-Brown, J.J., Cebra-Thomas, J., Bollag, R.J., Silver, L.M., Papaioannou, V.E....

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ژورنال

عنوان ژورنال: Human Molecular Genetics

سال: 2003

ISSN: 1460-2083

DOI: 10.1093/hmg/ddg077