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Aberrant progranulin, YKL-40, cathepsin D and cathepsin S in Gaucher disease.
Afinogenova Y, Ruan J, Yang R, Kleytman N, Pastores G, Lischuk A, Mistry PK. Afinogenova Y, et al. Among authors: ruan j. Mol Genet Metab. 2019 Sep-Oct;128(1-2):62-67. doi: 10.1016/j.ymgme.2019.07.014. Epub 2019 Jul 23. Mol Genet Metab. 2019. PMID: 31358474 Free PMC article.
Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease.
Drelichman GI, Fernández Escobar N, Soberon BC, Basack NF, Frabasil J, Schenone AB, Aguilar G, Larroudé MS, Knight JR, Zhao D, Ruan J, Mistry PK; Argentine Group for Diagnosis and Treatment of Gaucher Disease. Drelichman GI, et al. Among authors: ruan j. Mol Genet Metab Rep. 2021 Nov 11;29:100820. doi: 10.1016/j.ymgmr.2021.100820. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34820281 Free PMC article.
Neuroinflammation in neuronopathic Gaucher disease: Role of microglia and NK cells, biomarkers, and response to substrate reduction therapy.
Boddupalli CS, Nair S, Belinsky G, Gans J, Teeple E, Nguyen TH, Mehta S, Guo L, Kramer ML, Ruan J, Wang H, Davison M, Kumar D, Vidyadhara DJ, Zhang B, Klinger K, Mistry PK. Boddupalli CS, et al. Among authors: ruan j. Elife. 2022 Aug 16;11:e79830. doi: 10.7554/eLife.79830. Elife. 2022. PMID: 35972072 Free PMC article.
NLRP inflammasomes in health and disease.
Xu Z, Kombe Kombe AJ, Deng S, Zhang H, Wu S, Ruan J, Zhou Y, Jin T. Xu Z, et al. Among authors: ruan j. Mol Biomed. 2024 Apr 22;5(1):14. doi: 10.1186/s43556-024-00179-x. Mol Biomed. 2024. PMID: 38644450 Free PMC article. Review.
2,248 results