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-Büttner, S.M., Ciribilli, Y., Inga, A., Borlak, J.
Hypoplasia of the human heart is the most severe form of congenital heart disease (CHD) and usually lethal during early infancy. It is a leading cause of neonatal loss, especially in infants...
Inga, A., Reamon-Büttner, S.M., Borlak, J., Resnick, M.A.
Human heart development requires an orderly coordination of transcriptional programs, with the homeodomain protein NKX2-5 being one of the key transcription factors required for the differentiation...