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Phase 1 Trials of PNPLA3 siRNA in I148M Homozygous Patients with MAFLD.

作者信息

Fabbrini Elisa, Rady Brian, Koshkina Anastasiya, Jeon Jae Yoon, Ayyar Vivaswath S, Gargano Cynthia, DiProspero Nicholas, Wendel Susan, Hegge Julia, Hamilton Holly, Ding Zhi-Ming, Afrazi Maria, Nicholas Anthony, Pei Tao, Nakano Masayoshi, Ouchi Shohei, Saito Yuki, Yamashita Aimi, Tamamura Ryo, Salazar Hernan, Shapiro Craig, Yoshihara Tatsuya, Yonemura Takuma, Inoue Satoshi, Matsuoka Osamu, Erion Mark, Pocai Alessandro, Makimura Hideo

机构信息

Janssen Research and Development, Raritan, NJ

Janssen Research and Development, Spring House, PA.

出版信息

N Engl J Med. 2024 Aug 1;391(5):475-476. doi: 10.1056/NEJMc2402341.

DOI:10.1056/NEJMc2402341
PMID:39083780
Abstract
摘要

相似文献

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Phase 1 Trials of PNPLA3 siRNA in I148M Homozygous Patients with MAFLD.PNPLA3小干扰RNA在I148M纯合子MAFLD患者中的1期试验
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2
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Long-term hypercaloric diet exacerbates metabolic liver disease in PNPLA3 I148M animals.长期高卡路里饮食会加重 PNPLA3 I148M 动物的代谢性肝病。
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Clinically silent LINE 1 insertion in the PNPLA3 gene may impede genotyping of the p.I148M variant.PNPLA3 基因中临床无沉默的 LINE1 插入可能会阻碍 p.I148M 变异型的基因分型。
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Identification and Optimization of a Minor Allele-Specific siRNA to Prevent PNPLA3 I148M-Driven Nonalcoholic Fatty Liver Disease.鉴定和优化针对 PNPLA3 I148M 的小等位基因特异性 siRNA 以预防非酒精性脂肪性肝病。
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Deep Learning Reveals Liver MRI Features Associated With PNPLA3 I148M in Steatotic Liver Disease.深度学习揭示脂肪性肝病中与PNPLA3 I148M相关的肝脏MRI特征。
Liver Int. 2025 Jul;45(7):e70164. doi: 10.1111/liv.70164.
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A PNPLA3-Deficient iPSC-Derived Hepatocyte Screen Identifies Pathways to Potentially Reduce Steatosis in Metabolic Dysfunction-Associated Fatty Liver Disease.一种 PNPLA3 缺陷的 iPSC 衍生肝细胞筛选模型可识别代谢相关脂肪性肝病脂肪变性潜在治疗靶点。
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Interaction between estrogen receptor-α and PNPLA3 p.I148M variant drives fatty liver disease susceptibility in women.雌激素受体-α与 PNPLA3 p.I148M 变异体的相互作用导致女性患脂肪肝疾病的易感性。
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Am J Physiol Gastrointest Liver Physiol. 2025 Jul 1;329(1):G1-G16. doi: 10.1152/ajpgi.00193.2024. Epub 2025 Apr 23.

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Meta-Analysis: Effects of Steatotic Liver Disease-Associated Genetic Risk Alleles on Longitudinal Outcomes.荟萃分析：脂肪性肝病相关基因风险等位基因对纵向结局的影响。
Aliment Pharmacol Ther. 2025 Aug;62(3):244-276. doi: 10.1111/apt.70256. Epub 2025 Jun 28.
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Incretins and MASLD: at the Crossroads of Endocrine and Hepatic Disorders.肠促胰岛素与代谢相关脂肪性肝病：内分泌与肝脏疾病的交汇点
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Liver Int. 2025 Jul;45(7):e70164. doi: 10.1111/liv.70164.
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Gastroenterol Rep (Oxf). 2025 May 26;13:goaf044. doi: 10.1093/gastro/goaf044. eCollection 2025.
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Semin Liver Dis. 2025 Sep;45(3):315-327. doi: 10.1055/a-2599-3728. Epub 2025 May 21.
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Genetic Variations in GCKR and PNPLA3 Regulate Metabolic Balance Across the Liver.GCKR和PNPLA3中的基因变异调节肝脏的代谢平衡。
Diabetes. 2025 Jul 1;74(7):1300-1309. doi: 10.2337/db24-0923.