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CHAMP1 premature termination codon mutations found in individuals with intellectual disability cause a homologous recombination defect through haploinsufficiency

Crossref DOI link: https://doi.org/10.1038/s41598-024-83435-y

Published Online: 2024-12-30

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Yoshizaki, Yujiro

Ouchi, Yunosuke

Kurniawan, Dicky

Yumoto, Eisuke

Yoneyama, Yuki

Rizqullah, Faiza Ramadhani

Sato, Hiyori

Sarholz, Mirjam Hanako

Natsume, Toyoaki

Kanemaki, Masato T.

Ikeda, Masanori

Ui, Ayako

Iemura, Kenji

Tanaka, Kozo
Funding

Funding for this research was provided by:

JSPS (23K05629)

Japan Science and Technology Agency (JPMJAX2112)

Yamaguchi Educational and Scholarship Foundation

The Pharmacological Research Foundation

The Mochida Memorial Foundation for Medical and Pharmaceutical Research

Japan Society for the Promotion of Science (23K23877)

MEXT (23H04272)

Uehara Memorial Foundation

Takeda Science Foundation
License Information

Text and Data Mining valid from 2024-12-30

Version of Record valid from 2024-12-30
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Article History

Received: 30 April 2024

Accepted: 16 December 2024

First Online: 30 December 2024

Declarations

:

: The authors declare no competing interests.

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