Associated Papers
Establishment and molecular profiling of a PDX model of a metachronous brain tumor in a patient with constitutional mismatch repair deficiency with biallelic MSH6 variant.
Moreno DA et al.
Animal Models and Experimental Medicine, 2025
An attempt to explain what intrinsically disordered TCF4 does in its spare time when PTHS-related mutations prevent it from doing its job.
Sozańska N et al.
Cell Communication and Signaling : Ccs, 2025
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.
van der Laan L et al.
Hgg Advances, 2024
A Comprehensive Study of De Novo Mutations on the Protein-Protein Interaction Interfaces Provides New Insights into Developmental Delay.
Maharjan DT et al.
Biomolecules, 2022
Genetic analysis of neurodevelopmental disorders in children.
Wu D et al.
Frontiers in Child and Adolescent Psychiatry, 2022
Functional consequences of TCF4 missense substitutions associated with Pitt-Hopkins syndrome, mild intellectual disability, and schizophrenia.
Sirp A et al.
The Journal of Biological Chemistry, 2021
The subcellular localization of bHLH transcription factor TCF4 is mediated by multiple nuclear localization and nuclear export signals.
Greb-Markiewicz B et al.
Scientific Reports, 2019
Structural basis for preferential binding of human TCF4 to DNA containing 5-carboxylcytosine.
Yang J et al.
Nucleic Acids Research, 2019
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.
Mary L et al.
European Journal of Human Genetics : Ejhg, 2018
Common Pathophysiology in Multiple Mouse Models of Pitt-Hopkins Syndrome.
Thaxton C et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2018
Diagnostic value of partial exome sequencing in developmental disorders.
Gieldon L et al.
Plos One, 2018
Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type.
Malik S et al.
American Journal of Human Genetics, 2014
PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.
Trakadis YJ et al.
Bmc Medical Genomics, 2014
Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.
Sepp M et al.
Human Molecular Genetics, 2012
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
Whalen S et al.
Human Mutation, 2012