Associated Papers
A Case Report and Literature Review on Osteo-Oto-Hepato-Enteric Syndrome in Premature Infants Caused by UNC45A Deficiency.
Sun Z et al.
Molecular Genetics & Genomic Medicine, 2025
Altered chaperone-nonmuscle myosin II interactions drive pathogenicity of the UNC45A c.710T>C variant in osteo-oto-hepato-enteric syndrome.
Waich S et al.
Jci Insight, 2025
Myosin 1b regulates intestinal epithelial morphogenesis via interaction with UNC45A.
Revenu C et al.
Cell Reports, 2024
Generation of induced pluripotent stem cells (iPSCs) from a microvillus inclusion disease patient with a homozygous missense mutation in UNC45A.
Banal C et al.
Stem Cell Research, 2023
UNC45A-related osteo-oto-hepato-enteric syndrome in a Chinese neonate.
Kong Y et al.
European Journal of Medical Genetics, 2023
UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking.
Duclaux-Loras R et al.
The Journal of Clinical Investigation, 2022
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