Article
Skeletal dysplasia-causing TRPV4 mutations suppress the hypertrophic differentiation of human iPSC-derived chondrocytes.
eLife - 22 Feb 2023
Dicks Amanda R, Maksaev Grigory I, Harissa Zainab, Savadipour Alireza, Tang Ruhang, Steward Nancy, Liedtke Wolfgang, Nichols Colin G, Wu Chia-Lung, Guilak Farshid
Abstract excerpt
Mutations in the TRPV4 ion channel can lead to a range of skeletal dysplasias. However, the mechanisms by which TRPV4 mutations lead to distinct disease severity remain unknown. Here, we use CRISPR-Cas9-edited human-induced pluripotent stem cells (hiPSCs) harboring either the mild V620I or lethal T89I mutations to elucidate the differential effects on channel function and chondrogenic differentiation. We found...
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