Multiscale modeling uncovers 7q11.23 copy number variation–dependent changes in ribosomal biogenesis and neuronal maturation and excitability-Reference-Cited by-同舟云学术

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Multiscale modeling uncovers 7q11.23 copy number variation–dependent changes in ribosomal biogenesis and neuronal maturation and excitability

Published:2024-07-15 Issue:14 Volume:134 Page:
ISSN:1558-8238
Container-title:Journal of Clinical Investigation
language:en
Short-container-title:

Author:

Mihailovich Marija,Germain Pierre-Luc^ORCID,Shyti Reinald,Pozzi Davide,Noberini Roberta,Liu Yansheng,Aprile Davide^ORCID,Tenderini Erika,Troglio Flavia,Trattaro Sebastiano,Fabris Sonia,Ciptasari Ummi,Rigoli Marco Tullio,Caporale Nicolò,D’Agostino Giuseppe^ORCID,Mirabella Filippo,Vitriolo Alessandro,Capocefalo Daniele,Skaros Adrianos,Franchini Agnese Virginia,Ricciardi Sara,Biunno Ida,Neri Antonino,Nadif Kasri Nael,Bonaldi Tiziana,Aebersold Rudolf^ORCID,Matteoli Michela,Testa Giuseppe

Funder

HORIZON EUROPE European Research Council

Ministero della Salute

Fondazione Umberto Veronesi fellowships

Ministry of Education, Science and Technological Development of the Republic of Serbia

Publisher

American Society for Clinical Investigation

Link

https://www.jci.org/articles/view/168982/files/pdf

Reference60 articles.

1. A cross-disorder dosage sensitivity map of the human genome

2. 7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling

3. Williams–Beuren Syndrome

4. 7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages

5. GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders

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