[HTML][HTML] TCF4-mediated Fuchs endothelial corneal dystrophy: Insights into a common trinucleotide repeat-associated disease
MP Fautsch, ED Wieben, KH Baratz… - Progress in retinal and …, 2021 - Elsevier
Fuchs endothelial corneal dystrophy (FECD) is a common cause for heritable visual loss in
the elderly. Since the first description of an association between FECD and common …
the elderly. Since the first description of an association between FECD and common …
Evaluation of Nav1.8 as a therapeutic target for Pitt Hopkins Syndrome
Abstract Pitt Hopkins Syndrome (PTHS) is a rare syndromic form of autism spectrum disorder
(ASD) caused by autosomal dominant mutations in the Transcription Factor 4 (TCF4) gene …
(ASD) caused by autosomal dominant mutations in the Transcription Factor 4 (TCF4) gene …
The Fuchs corneal dystrophy-associated CTG repeat expansion in the TCF4 gene affects transcription from its alternative promoters
A Sirp, K Leite, J Tuvikene, K Nurm, M Sepp… - Scientific Reports, 2020 - nature.com
The CTG trinucleotide repeat (TNR) expansion in Transcription factor 4 (TCF4) intron 3 is the
main cause of Fuchs' endothelial corneal dystrophy (FECD) and may confer an increased …
main cause of Fuchs' endothelial corneal dystrophy (FECD) and may confer an increased …
Daughterless, the Drosophila orthologue of TCF4, is required for associative learning and maintenance of the synaptic proteome
L Tamberg, M Jaago, K Säälik, A Sirp… - Disease models & …, 2020 - journals.biologists.com
ABSTRACT Mammalian transcription factor 4 (TCF4) has been linked to schizophrenia and
intellectual disabilities, such as Pitt–Hopkins syndrome (PTHS). Here, we show that similarly …
intellectual disabilities, such as Pitt–Hopkins syndrome (PTHS). Here, we show that similarly …
[HTML][HTML] Different E-box binding transcription factors, similar neuro-developmental defects: ZEB2 (Mowat-Wilson syndrome) and TCF4 (Pitt-Hopkins syndrome)
L Meert, JC Birkhoff, A Conidi, RA Poot… - Rare Disease and …, 2022 - oaepublish.com
ZEB2 and TCF4 are transcription factors (TFs) whose locations in embryos overlap in many
sites and developmental phases, including in the forebrain and its cortical neurons. De novo …
sites and developmental phases, including in the forebrain and its cortical neurons. De novo …