DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants-Reference-Cited by-同舟云学术

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants

Published:2024-07 Issue:3 Volume:5 Page:100289
ISSN:2666-2477
Container-title:Human Genetics and Genomics Advances
language:en
Short-container-title:Human Genetics and Genomics Advances

Author:

van der Laan Liselot^ORCID,Lauffer Peter,Rooney Kathleen,Silva Ananília,Haghshenas Sadegheh,Relator Raissa,Levy Michael A.,Trajkova Slavica,Huisman Sylvia A.,Bijlsma Emilia K.,Kleefstra Tjitske,van Bon Bregje W.,Baysal Özlem,Zweier Christiane,Palomares-Bralo María,Fischer Jan,Szakszon Katalin,Faivre Laurence,Piton Amélie,Mesman Simone,Hochstenbach Ron,Elting Mariet W.,van Hagen Johanna M.,Plomp Astrid S.,Mannens Marcel M.A.M.,Alders Mariëlle,van Haelst Mieke M.,Ferrero Giovanni B.,Brusco Alfredo,Henneman Peter,Sweetser David A.,Sadikovic Bekim,Vitobello Antonio,Menke Leonie A.

Funder

Ontario Genomics Institute

Government of Canada

Amsterdam University Medical Centers

Genome Canada

Publisher

Elsevier BV

Reference29 articles.

1. Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement;Zollino;Clin. Genet.,2019

2. Fatal gastrointestinal complications in Pitt-Hopkins syndrome;Koppen;Am. J. Med. Genet.,2023

3. 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

4. Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects;Sepp;Hum. Mol. Genet.,2012

5. Structural basis for preferential binding of human TCF4 to DNA containing 5-carboxylcytosine;Yang;Nucleic Acids Res.,2019

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1. Pitt Hopkins syndrome – TCF4 gene deletion causing severe psychomotor delay;Human Gene;2024-09