A heterozygous mutation in UBE2H in a patient with developmental delay leads to an aberrant brain development in zebrafish.

Authors:
Shin U; Choi Y; Ko HS; Myung K; Lee S and 2 more

Journal:
Hum Genomics

Publication Year: 2023

DOI:
10.1186/s40246-023-00491-7

PMCID:
PMC10199504

PMID:
37208785

Journal Information

Full Title: Hum Genomics

Abbreviation: Hum Genomics

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

Transparency Score
4/6
66.7% Transparent
Transparency Indicators
Click on green indicators to view evidence text
Core Indicators
Evidence found in paper:

"availability of data and materials the whole-genome and whole-transcriptome sequencing data were deposited to sra under the bioproject accession no: prjna915203. availability of data and materials the whole-genome and whole-transcriptome sequencing data were deposited to sra under the bioproject accession no: prjna915203"

Code Sharing
Evidence found in paper:

"Declarations Ethics approval and consent to participateInformed consent was obtained from the patients, for publication and genetic analyses. This study was performed in accordance with the Declaration of Helsinki. A blood sample was collected for DNA extraction, and informed consent was obtained from all study participants before the blood was drawn. Zebrafish were raised in accordance with Ulsan National Institute of Science and Technology and Use Committees (IACUC: UNISTIACUC-20-09). Consent for publicationNot applicable. Competing interestsThe authors declare that they have no competing interests. Competing interests The authors declare that they have no competing interests."

Evidence found in paper:

"Funding This research was supported by a Grant from Kyung Hee University in 2021 (KHU-20211823 to Y.L.) and the Institute for Basic Science (Grant Number IBS-R022-D1 to K.M.). This research was also partly supported by Basic Science Research Program through the NRF funded by the Ministry of Education (NRF-2021R1A6A3A13045998 to Y.C. and NRF-2018R1A6A1A03025810 to S.L.)."

Protocol Registration
Open Access
Paper is freely available to read
Additional Indicators
Replication
Novelty Statement
Assessment Info

Tool: rtransparent

OST Version: N/A

Last Updated: Aug 05, 2025