A functional genetic study identifies HAND1 mutations in septation defects of the human heart (2009)
Reamon-Buettner, S.M., Ciribilli, Y., Traverso, I., Kuhls, B., Inga, A., Borlak, J.
HAND1 is a basic helix-loop-helix (bHLH) transcription factor essential for mammalian heart development. Absence of Hand1 in mice results in embryonal lethality, as well as in a wide spectrum of...
Reamon-Buettner, S.M., Borlak, J.
'Epigenetics' is a heritable phenomenon without change in primary DNA sequence. In recent years, this field has attracted much attention as more epigenetic controls of gene activities are being...
Reamon-Buettner, S.M., Cho, S.H., Borlak, J.
Background: The 3'-untranslated region (3'-UTR) of mRNA contains regulatory elements that are essential for the appropriate expression of many genes. These regulatory elements are involved in the...
Reamon-Buettner, S.M., Spanel-Borowski, K., Borlak, J.
Birth defects are the leading cause of infant mortality and malformations in congenital heart disease (CHD) are among the most prevalent and fatal of all birth defects. Yet the molecular mechanisms...
HEY2 mutations in malformed hearts (2006)
Reamon-Buettner, S.M., Borlak, J.
The basic helix-loop-helix (bHLH) transcription factor Hey2 (gridlock) is an important determinant of mammalian heart development, but its role in human ventricular septal defects is unknown. Hey2...
Reamon-Buettner, S.M., Borlak, J.
Heart development is complex and requires the sequential and timely interplay of regulatory master proteins, notably several transcription factors. Germline mutations in the human transcription...
GATA4 zinc finger mutations as a molecular rationale for septation defects of the human heart (2005)
Reamon-Buettner, S.M., Borlak, J.
GATA4 is localised on human chromosome 8p23.1-p22 and codes for a zinc finger transcription factor. Mice lacking Gata4 suffer from defective ventral morphogenesis and heart tube formation.1,2 This...