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3. Pleines I, Woods J, Chappaz S, Kew V, Foad N, Ballester-Beltrán J, Aurbach K, Lincetto C, Lane RM, Schevzov G, Alexander WS, Hilton DJ, Astle WJ, Downes K, Nurden P, Westbury SK, Mumford AD, Obaji SG, Collins PW, Delerue F, Ittner LM, Bryce NS, Holliday M, Lucas CA, Hardeman EC, Ouwehand WH, Gunning PW, Turro E, Tijssen MR, Kile BT: Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia. J Clin Invest; 2017 Mar 01;127(3):814-829
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Platelet number and volume are independent risk factors for heart attack and stroke.
  • Here, we have identified 2 unrelated families in the BRIDGE Bleeding and Platelet Disorders (BPD) collection who carry a TPM4 variant that causes truncation of the TPM4 protein and segregates with macrothrombocytopenia, a disorder characterized by low platelet count.
  • N-Ethyl-N-nitrosourea-induced (ENU-induced) missense mutations in Tpm4 or targeted inactivation of the Tpm4 locus led to gene dosage-dependent macrothrombocytopenia in mice.
  • Together, our findings demonstrate a nonredundant role for TPM4 in platelet biogenesis in humans and mice and reveal that truncating variants in TPM4 cause a previously undescribed dominant Mendelian platelet disorder.

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  • (PMID = 28134622.001).
  • [ISSN] 1558-8238
  • [Journal-full-title] The Journal of clinical investigation
  • [ISO-abbreviation] J. Clin. Invest.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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5. Chen YH, Chen YC, Liu CS, Hsieh MC: The Different Effects of Atorvastatin and Pravastatin on Cell Death and PARP Activity in Pancreatic NIT-1 Cells. J Diabetes Res; 2016;2016:1828071
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • : Statins have been widely used drugs for lowering low-density lipoprotein and for preventing heart attack and stroke.
  • The objective of this study was to elucidate the signaling pathway and biological function between necrosis and autophagy induced by atorvastatin (AS) and pravastatin (PS).
  • PARP1 exhibited a dual role in modulating necrosis and autophagy in AS- and PS-treated NIT-1 cells through RIP1-RIP3-MLKL pathway and PARP1-AMPK-mTOR pathway.
  • Lastly, AS treatment induced mitochondrial morphology injury significantly more than PS treatment did.






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