SMG9 is a novel prognostic-related biomarker in glioma correlating with ferroptosis and immune infiltrates

Autor: Yong Dai, Huan Zhang, Sujuan Feng, Chao Guo, Wenjie Tian, Yimei Sun, Yi Zhang

Publikováno v: Heliyon, Vol 10, Iss 4, Pp e25716- (2024)

Background: Glioma is the most frequent type of malignancy that may damage the brain with high morbidity and mortality rates and patients' prognoses are still dismal. Ferroptosis, a newly uncovered mode of programmed cell death, may be triggered to d

Externí odkaz: https://doaj.org/article/e2d3fb87770f45dd8dd2a5962de7a02d

SMG9 Serves as an Oncogene to Promote the Tumor Progression via EMT and Wnt/β-Catenin Signaling Pathway in Hepatocellular Carcinoma

Autor: Xing Jin, Jie Yin, Hongling Zhu, Weikang Li, Kewei Yu, Miao Liu, Xiujuan Zhang, Miaolian Lu, Zemin Wan, Xianzhang Huang

Publikováno v: Frontiers in Pharmacology, Vol 12 (2021)

Background/Aims: SMG9 participates in the nonsense-mediated mRNA decay process that degrades mRNA harboring nonsense mutations introduced either at the level of transcription or RNA processing. However, little is known about the role of SMG9 in hepat

Externí odkaz: https://doaj.org/article/6a8034d0275a42919fd6a4db6a74ed49

Duplication of 19q (13.2-13.31) associated with comitant esotropia: A case report

Autor: Yue-Lan Feng, Ning-Dong Li

Publikováno v: World Journal of Clinical Cases

Background Comitant esotropia is the most common form of strabismus. It is caused by heterogeneous environmental and genetic risk factors. The pure duplication of the long arm of chromosome 19 is a rare abnormality. Only 8 patients with partial triso

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::724110f2397cc9a0da5a22284537e341
https://doi.org/10.12998/wjcc.v9.i20.5526

Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder

Autor: Jean-François Deleuze, Tristan Hazelzet, Anne-Marie Guerrot, Alice Goldenberg, Jean-Baptiste Leca, François Lecoquierre, Alexandra Chadie, Marc Muraine, Olivier Quenez, Thierry Frebourg, Claire Gayet, Ferielle Louillet, M. Brasseur-Daudruy, Pascale Saugier-Veber, Gaël Nicolas, Anne Boland, Sophie Coutant, Mariette Renaux-Petel, Clémentine Dumant-Forest, Antoine Bonnevalle

Publikováno v: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2019, 179 (11), pp.2257-2262. ⟨10.1002/ajmg.a.61317⟩
American Journal of Medical Genetics Part A, 2019, 179 (11), pp.2257-2262. ⟨10.1002/ajmg.a.61317⟩

Introduction SMG9 deficiency is an extremely rare autosomal recessive condition originally described in three patients from two families harboring homozygous truncating SMG9 variants in a context of severe syndromic developmental disorder. To our kno

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2460ea7645c80ce3558085983a03be36
https://hal-normandie-univ.archives-ouvertes.fr/hal-02356422

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