Sijun Li

Changsha, China

Last Updated: 09/26/2026

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Found 8 publications

The γ-Actin with pathogenic variants of sites on actin-binding proteins caused earlier onset and more malignant progressive hearing loss.

The γ-Actin with pathogenic variants of sites on actin-binding proteins caused earlier onset and more malignant progressive hearing loss.

Journal: Journal of medical genetics

Published: December 15, 2024

Modeling of auditory neuropathy spectrum disorders associated with the TEME43 variant reveals impaired gap junction function of iPSC-derived glia-like support cells.

Modeling of auditory neuropathy spectrum disorders associated with the TEME43 variant reveals impaired gap junction function of iPSC-derived glia-like support cells.

Journal: Frontiers in molecular neuroscience

Published: July 01, 2024

PAX3 mutation suppress otic progenitors proliferation and induce apoptosis by inhibiting WNT1/β-catenin signaling pathway in WS1 patient iPSC-derived inner ear organoids.

PAX3 mutation suppress otic progenitors proliferation and induce apoptosis by inhibiting WNT1/β-catenin signaling pathway in WS1 patient iPSC-derived inner ear organoids.

Journal: Biochemical and biophysical research communications

Published: October 17, 2023

Identification of a family with van der Hoeve's syndrome harboring a novel COL1A1 mutation and generation of patient-derived iPSC lines and CRISPR/Cas9-corrected isogenic iPSCs.

Identification of a family with van der Hoeve's syndrome harboring a novel COL1A1 mutation and generation of patient-derived iPSC lines and CRISPR/Cas9-corrected isogenic iPSCs.

Journal: Human cell

Published: August 28, 2023

Gene regulation analysis of patient-derived iPSCs and its CRISPR-corrected control provides a new tool for studying perturbations of ELMOD3 c.512A>G mutation during the development of inherited hearing loss.

Gene regulation analysis of patient-derived iPSCs and its CRISPR-corrected control provides a new tool for studying perturbations of ELMOD3 c.512A>G mutation during the development of inherited hearing loss.

Journal: PloS one

Published: November 14, 2022

Establishment of two iPSC lines from healthy donor with heterozygous mutation in the SLC26A4 gene.

Establishment of two iPSC lines from healthy donor with heterozygous mutation in the SLC26A4 gene.

Journal: Stem cell research

Published: August 23, 2022

A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome.

A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome.

Journal: BMC medical genomics

Published: July 04, 2022

Quantitative Relationship Between Paddy Soil Properties and Cadmium Content in Tobacco leaves.

Quantitative Relationship Between Paddy Soil Properties and Cadmium Content in Tobacco leaves.

Journal: Bulletin of environmental contamination and toxicology

Published: October 14, 2020

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Last Updated: 09/26/2026