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...
The next innovation cycle in toxicogenomics: Environmental epigenetics (2008)
Reamon-Büttner, S.M., Mutschler, V., Borlak, J.
Toxicogenomics is a field that emerged from the combination of conventional toxicology with functional genomics. In recent years, this field contributed immensely in defining adverse biological...
Reamon-Büttner, S.M., Borlak, J.
Understanding molecular mechanisms underlying lung cancer is a prerequisite toward treatment. To enable mechanistic investigations into the epigenetic regulation of the tumor suppressor gene cell...
Somatic mutations in cardiac malformations (2006)
Reamon-Büttner, S.M., Borlak, J.
It has come to our attention that there may be some confusion about the relationship of the data in two of our NKX2-5 papers. Therefore, this correspondence aims to address the following issues:...
N-acetyltransferase 2 (NAT2) gene polymorphisms in Parkinson's disease (2006)
Borlak, J., Reamon-Büttner, S.M.
BACKGROUND: Parkinson's disease (PD) is a movement disorder caused by the degeneration of dopaminergic neurons in the substantia nigra of the midbrain. The molecular basis of this neural death is...
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...
Reamon-Büttner, 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...
Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease (2004)
Reamon-Büttner, S.M., Borlak, J.
NKX2-5 is a pivotal transcription factor in heart development. Previous studies on lymphocytic DNA provided evidence of familial NKX2-5 gene mutations in cardiac malformations. Common mutations are...
TBX5 mutations in non-Holt-Oram syndrome (HOS) malformed heart (2004)
Reamon-Büttner, S.M., Borlak, J.
The T-box transcription factor Tbx5 is important in mammalian cardiac development. Mutations in the human TBX5 gene cause Holt-Oram syndrome (HOS), a disorder characterized by heart and upper limb...
Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations (2004)
Reamon-Büttner, S.M., Hecker, H., Spanel-Borowski, K., Craatz, S., Kuenzel, E., Borlak, J.
NKX2-5 is a homeodomain-containing transcription factor important in cardiac development. Familial mutations in the NKX2-5 gene are associated with cardiac abnormalities, but mutations are rare in...