Wilms Tumor Suppressor, WT1, Cooperates with MicroRNA-26a and MicroRNA-101 to Suppress Translation of the Polycomb Protein, EZH2, in Mesenchymal Stem Cells

Autor: Akpa, Murielle M., Iglesias, Diana, Chu, LeeLee, Thiébaut, Antonin, Jentoft, Ida, Hammond, Leah, Torban, Elena, Goodyer, Paul R.

Publikováno v: In Journal of Biological Chemistry 19 February 2016 291(8):3785-3795

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The novel aminoglycoside, ELX-02, permits CTNS^W138X translational read-through and restores lysosomal cystine efflux in cystinosis.

Autor: Brasell, Emma J., Chu, Lee Lee, Akpa, Murielle M., Eshkar-Oren, Idit, Alroy, Iris, Corsini, Rachel, Gilfix, Brian M., Yamanaka, Yojiro, Huertas, Pedro, Goodyer, Paul

Publikováno v: PLoS ONE; 12/4/2019, Vol. 14 Issue 12, p1-23, 23p

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Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis.

Autor: Sentell ZT; Department of Human Genetics, McGill University, 3640 rue University, Montreal, QC, H3A 0C7, Canada.; Child Health and Human Development, The Research Institute of the McGill University Health Centre, 1001 Decarie Boulevard, Montreal, QC, H4A 3J1, Canada., Mougharbel L; Child Health and Human Development, The Research Institute of the McGill University Health Centre, 1001 Decarie Boulevard, Montreal, QC, H4A 3J1, Canada., Nurcombe ZW; Department of Human Genetics, McGill University, 3640 rue University, Montreal, QC, H3A 0C7, Canada.; Child Health and Human Development, The Research Institute of the McGill University Health Centre, 1001 Decarie Boulevard, Montreal, QC, H4A 3J1, Canada., Babayeva S; Department of Medicine, McGill University Health Centre, 1001 Decarie Boulevard, Montreal, QC, H4A 3J1, Canada.; Research Institute of the McGill University Health Centre, McGill University, 1001 Decarie Boulevard, Montreal, QC, H4A 3J1, Canada., Henein M; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, 1001 Decarie Boulevard, Montreal, QC, H4A 3J1, Canada., Chu LL; Child Health and Human Development, The Research Institute of the McGill University Health Centre, 1001 Decarie Boulevard, Montreal, QC, H4A 3J1, Canada., Akpa MM; Child Health and Human Development, The Research Institute of the McGill University Health Centre, 1001 Decarie Boulevard, Montreal, QC, H4A 3J1, Canada., Chung CF; Department of Medicine, McGill University Health Centre, 1001 Decarie Boulevard, Montreal, QC, H4A 3J1, Canada.; Research Institute of the McGill University Health Centre, McGill University, 1001 Decarie Boulevard, Montreal, QC, H4A 3J1, Canada., Rivière JB; Department of Human Genetics, McGill University, 3640 rue University, Montreal, QC, H3A 0C7, Canada., Pupavac M; Department of Human Genetics, McGill University, 3640 rue University, Montreal, QC, H3A 0C7, Canada., Li R; Department of Human Genetics, McGill University, 3640 rue University, Montreal, QC, H3A 0C7, Canada., Rosenblatt DS; Child Health and Human Development, The Research Institute of the McGill University Health Centre, 1001 Decarie Boulevard, Montreal, QC, H4A 3J1, Canada.; Departments of Human Genetics, Medicine, Pediatrics and Biology, McGill University, 3640 rue University, Montreal, QC, H3A 0C7, Canada.; Divisions of Medical Genetics and Medical Biochemistry, Department of Specialized Medicine, McGill University Health Centre, 1001 Decarie Boulevard, Montreal, QC, H4A 3J1, Canada., Majewski J; Department of Human Genetics, McGill University, 3640 rue University, Montreal, QC, H3A 0C7, Canada., Goodyer PR; Child Health and Human Development, The Research Institute of the McGill University Health Centre, 1001 Decarie Boulevard, Montreal, QC, H4A 3J1, Canada.; Department of Pediatrics, Division of Nephrology, McGill University Health Centre, 1001 Decarie Boulevard, Montreal, QC, H4A 3J1, Canada., Torban E; Department of Medicine, McGill University Health Centre, 1001 Decarie Boulevard, Montreal, QC, H4A 3J1, Canada.; Research Institute of the McGill University Health Centre, McGill University, 1001 Decarie Boulevard, Montreal, QC, H4A 3J1, Canada., Kitzler TM; Department of Human Genetics, McGill University, 3640 rue University, Montreal, QC, H3A 0C7, Canada.; Child Health and Human Development, The Research Institute of the McGill University Health Centre, 1001 Decarie Boulevard, Montreal, QC, H4A 3J1, Canada.; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, 1001 Decarie Boulevard, Montreal, QC, H4A 3J1, Canada.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2024 Dec 18. Date of Electronic Publication: 2024 Dec 18.