Mutational, functional, and expression studies of theTCF4gene in Pitt-Hopkins syndrome-Reference-Cited by-同舟云学术

Mutational, functional, and expression studies of theTCF4gene in Pitt-Hopkins syndrome

Published:2009-04 Issue:4 Volume:30 Page:669-676
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

de Pontual Lo��c,Mathieu Yves,Golzio Christelle,Rio Marl��ne,Malan Val��rie,Boddaert Nathalie,Soufflet Christine,Picard Capucine,Durandy Anne,Dobbie Angus,Heron Delphine,Isidor Bertrand,Motte Jacques,Newburry-Ecob Ruth,Pasquier Laurent,Tardieu Marc,Viot G��raldine,Jaubert Francis,Munnich Arnold,Colleaux Laurence,Vekemans Michel,Etchevers Heather,Lyonnet Stanislas,Amiel Jeanne

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference26 articles.

1. Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction;Amiel;Am J Hum Genet,2007

2. Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array;Andrieux;Eur J Med Genet,2008

3. E2A and E2-2 are subunits of B-cell-specific E2-box DNA-binding proteins;Bain;Mol Cell Biol,1993

4. Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4;Brockschmidt;Hum Mol Genet,2007

5. Proneural bHLH and Brn proteins coregulate a neurogenic program through cooperative binding to a conserved DNA motif;Castro;Dev Cell,2006

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