Etiopathogenetic advances and management of holoprosencephaly: from bench to bedside.
Novara, Italy. In Panminerva Med, 2010
Genetic causes are responsible for about 20% of cases: they are chromosomal abnormalities and gene mutations: up to date, nine genes (SHH, ZIC2, SIX3, TGIF, PATCHED1, TDGF1/CRIPTO, FAST1, GLI2 and DHCR) are definitely associated with HPE, but many others candidate gene are under investigation.
PCTA: a new player in TGF-beta signaling.
United States. In Sci Signal, 2007
cPML is sequestered in the nucleus by the homeodomain protein TGIF (TG-interacting factor), a negative regulator of TGF-beta signaling.
Rennes, France. In Orphanet J Rare Dis, 2006
To date, seven genes have been positively implicated in HPE: Sonic hedgehog (SHH), ZIC2, SIX3, TGIF, PTCH, GLI2 and TDGF1.
A Smad transcriptional corepressor.
New York City, United States. In Cell, 1999
We identified the homeodomain protein TGIF as a Smad2-binding protein and a repressor of transcription.