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Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism.
Lindqvist J, Ma W, Li F, Hernandez Y, Kolb J, Kiss B, Tonino P, van der Pijl R, Karimi E, Gong H, Strom J, Hourani Z, Smith JE 3rd, Ottenheijm C, Irving T, Granzier H. Lindqvist J, et al. Among authors: li f. Nat Commun. 2020 Jun 1;11(1):2699. doi: 10.1038/s41467-020-16526-9. Nat Commun. 2020. PMID: 32483185 Free PMC article.
KBTBD13 is an actin-binding protein that modulates muscle kinetics.
de Winter JM, Molenaar JP, Yuen M, van der Pijl R, Shen S, Conijn S, van de Locht M, Willigenburg M, Bogaards SJ, van Kleef ES, Lassche S, Persson M, Rassier DE, Sztal TE, Ruparelia AA, Oorschot V, Ramm G, Hall TE, Xiong Z, Johnson CN, Li F, Kiss B, Lozano-Vidal N, Boon RA, Marabita M, Nogara L, Blaauw B, Rodenburg RJ, Küsters B, Doorduin J, Beggs AH, Granzier H, Campbell K, Ma W, Irving T, Malfatti E, Romero NB, Bryson-Richardson RJ, van Engelen BG, Voermans NC, Ottenheijm CA. de Winter JM, et al. Among authors: li f. J Clin Invest. 2020 Feb 3;130(2):754-767. doi: 10.1172/JCI124000. J Clin Invest. 2020. PMID: 31671076 Free PMC article.
Deleting Titin's C-Terminal PEVK Exons Increases Passive Stiffness, Alters Splicing, and Induces Cross-Sectional and Longitudinal Hypertrophy in Skeletal Muscle.
van der Pijl RJ, Hudson B, Granzier-Nakajima T, Li F, Knottnerus AM, Smith J, Chung CS, Gotthardt M, Granzier HL, Ottenheijm CAC. van der Pijl RJ, et al. Among authors: li f. Front Physiol. 2020 May 29;11:494. doi: 10.3389/fphys.2020.00494. eCollection 2020. Front Physiol. 2020. PMID: 32547410 Free PMC article.
Integrated analysis of multiple transcriptomic approaches and machine learning integration algorithms reveals high endothelial venules as a prognostic immune-related biomarker in bladder cancer.
Zhang J, Huang Y, Tan X, Wang Z, Cheng R, Zhang S, Chen Y, Jiang F, Tan W, Deng X, Li F. Zhang J, et al. Among authors: li f. Int Immunopharmacol. 2024 Jun 1;136:112184. doi: 10.1016/j.intimp.2024.112184. Online ahead of print. Int Immunopharmacol. 2024. PMID: 38824904
The management pattern and outcomes of chronic thromboembolic pulmonary hypertension: rationale and design for a Chinese real-world study.
Zhang S, Li Y, Yang Y, Gong S, Yang Z, Hong C, Cui X, Wan J, Ji Y, Chen H, Zhu L, Li C, Cheng Z, Zhang Y, Wang Q, Luo Q, Guo L, Ma G, Han B, Liu Z, Xiong C, Wang L, Ji Q, Li F, Wang S, Zhang Z, Zhang Y, Wang D, Gao Q, Huang Q, Xie W, Zhai Z, Wang C. Zhang S, et al. Among authors: li f. BMC Pulm Med. 2024 Jun 3;24(1):265. doi: 10.1186/s12890-024-03042-5. BMC Pulm Med. 2024. PMID: 38825688
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