Research graph
References from TCF4 at the crest of development: a zebrafish model to explore craniofacial and gastrointestinal defects in Pitt-Hopkins syndrome. Local targets link to admitted publications; unresolved targets remain external evidence.
Zebrafish: housing and husbandry recommendations
10.1177/0023677219869037 · 2020 · External reference
Stem cell-based therapy for hirschsprung disease, do we have the guts to treat?
10.1038/s41434-021-00268-4 · 2022 · External reference
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
10.1086/515582 · 2007 · External reference
Impairment of different protein domains causes variable clinical presentation within pitt-hopkins syndrome and suggests intragenic molecular syndromology of TCF4
10.1016/j.ejmg.2017.08.004 · 2017 · External reference
Severe mental retardation with breathing abnormalities (Pitt–Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4
10.1093/hmg/ddm099 · 2007 · External reference
Molecular and cellular function of transcription factor 4 in pitt-hopkins syndrome
10.1159/000516666 · 2021 · External reference
Disordered breathing in a pitt-hopkins syndrome model involves Phox2b-expressing parafacial neurons and aberrant Nav1.8 expression
10.1038/s41467-021-26263-2 · 2021 · External reference
Unusual inconsolable crying: an insight, case report, and review of the literature on the pitt-hopkins gastrointestinal phenotype
10.7759/cureus.43781 · 2023 · External reference
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome
10.1002/humu.20935 · 2009 · External reference
CRISP-ID: decoding CRISPR mediated indels by sanger sequencing
10.1038/srep28973 · 2016 · External reference
Zebrafish: an exciting model for investigating the spatio-temporal pattern of enteric nervous system development
10.1007/s00383-010-2746-7 · 2010 · External reference
Model matchmaking via the Solve-RD rare Disease Models & Mechanisms Network (RDMM-Europe)
10.1038/s41684-024-01395-2 · 2024 · External reference
Tcf4 dysfunction alters dorsal and ventral cortical neurogenesis in Pitt-Hopkins syndrome mouse model showing sexual dimorphism
10.1016/j.bbadis.2024.167178 · 2024 · External reference
The E-protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors
10.1073/pnas.0707456104 · 2007 · External reference
Gut feelings: studying enteric nervous system development, function, and disease in the zebrafish model system
10.1002/dvdy.24597 · 2018 · External reference
Pitt-Hopkins syndrome: a review of current literature, clinical approach, and 23-Patient case series
10.1177/0883073817750490 · 2018 · External reference
Pitt-Hopkins Mouse Model has Altered Particular Gastrointestinal Transits In Vivo
10.1002/aur.1467 · 2015 · External reference
Poly peak parser: method and software for identification of unknown indels using sanger sequencing of polymerase chain reaction products
10.1002/dvdy.24183 · 2014 · External reference
Effect of bisphenol A on craniofacial cartilage development in zebrafish (Danio rerio) embryos: a morphological study
10.1016/j.ecoenv.2021.111991 · 2021 · External reference
Juvenile reinstatement of TCF4 in Pitt-Hopkins syndrome model mice reveals a critical window for genetic intervention
10.64898/2025.12.23.696277 · 2025 · External reference
Rescue of behavioral and electrophysiological phenotypes in a Pitt-Hopkins syndrome mouse model by genetic restoration of Tcf4 expression
10.7554/elife.72290 · 2022 · External reference
Fatal gastrointestinal complications in Pitt-Hopkins syndrome
10.1002/ajmg.a.63079 · 2023 · External reference
The 3Rs in research: a contemporary approach to replacement, reduction and refinement
10.1017/s0007114517002227 · 2018 · External reference
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene
10.1111/cge.14485 · 2024 · External reference
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
10.1172/jci182100 · 2025 · External reference
A targeted CRISPR-Cas9 mediated F0 screen identifies genes involved in establishment of the enteric nervous system
10.1371/journal.pone.0303914 · 2024 · External reference
Transcription factor 4 loss-of-function is associated with deficits in progenitor proliferation and cortical neuron content
10.1038/s41467-022-29942-w · 2022 · External reference
Pitt-Hopkins syndrome in two patients and further definition of the phenotype
10.1097/01.mcd.0000184973.14775.32 · 2006 · External reference
A syndrome of mental retardation, wide mouth and intermittent overbreathing
10.1111/jpc.1978.14.3.182 · 1978 · External reference
Transcription factor 4 (TCF4) and schizophrenia: integrating the animal and the human perspective
10.1007/s00018-013-1553-4 · 2014 · External reference
IL-22 from enteroendocrine cells promotes early-life gut motility in zebrafish through the microbiota
10.1126/science.adr1707 · 2026 · External reference
Going with the flow: sensorimotor integration along the zebrafish GI tract
10.3390/cells14151170 · 2025 · External reference
General whole-mount immunohistochemistry of zebrafish (Danio rerio) embryos and larvae protocol
10.1007/978-1-4939-7883-0_19 · 2018 · External reference
Fiji: an open-source platform for biological-image analysis
10.1038/nmeth.2019 · 2012 · External reference
The basic helix‐loop‐helix transcription factor TCF4 impacts brain architecture as well as neuronal morphology and differentiation
10.1111/ejn.14674 · 2020 · External reference
Single-cell analysis of shared signatures and transcriptional diversity during zebrafish development
10.1016/j.devcel.2023.11.001 · 2023 · External reference
The role of Wnt/β-Catenin signalling in neural crest development in zebrafish
10.3389/fcell.2021.782445 · 2021 · External reference
Mechanisms of neural crest migration
10.1146/annurev-genet-120417-031559 · 2018 · External reference
Common pathophysiology in multiple mouse models of pitt–hopkins syndrome
10.1523/jneurosci.1305-17.2017 · 2018 · External reference
Genetic regulation of enteric nervous system development in zebrafish
10.1042/bst20230343 · 2024 · External reference
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum
10.1002/humu.21639 · 2012 · External reference
Cutting-edge regenerative therapy for Hirschsprung disease and its allied disorders
10.1007/s00595-023-02741-6 · 2024 · External reference
Diagnosis and management in Pitt-Hopkins syndrome: first international consensus statement
10.1111/cge.13506 · 2019 · External reference
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
10.1086/515583 · 2007 · External reference
