Associated Papers
CRISPR-Cas9-Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel-Gruber Syndrome Phenotype.
Liu Y et al.
Genesis (new York, N.y. : 2000), 2026
Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation.
Kuroda Y et al.
Journal of Human Genetics, 2025
TXNDC15, an ER-localized thioredoxin-like transmembrane protein, contributes to ciliary transition zone integrity.
Yamazaki S et al.
Journal of Cell Science, 2024
Novel homozygous mutations in TXNDC15 causing Meckel syndrome.
Deng T et al.
Molecular Genetics & Genomic Medicine, 2024
First preimplantation genetic testing case of Meckel syndrome with a novel homozygous TXNDC15 variant in a non-consanguineous Chinese family.
Xu H et al.
Molecular Genetics & Genomic Medicine, 2024
Meckel syndrome: Clinical and mutation profile in six fetuses.
Radhakrishnan P et al.
Clinical Genetics, 2019
A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene.
Ridnõi K et al.
Molecular Genetics & Genomic Medicine, 2019
Characterizing the morbid genome of ciliopathies.
Shaheen R et al.
Genome Biology, 2016
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