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Rizzo Manglio Miguel Bluthgen Mara Virginia Recondo Gonzalo Naveira Martin Perfetti Aldo Rizzi Florencia Kuzminin Alejandro Faura Victoria Cerini Matas Videla Alejandro Silva Carlos Lupinacci Lorena Minatta Nicols 《International journal of clinical oncology / Japan Society of Clinical Oncology》2021,26(6):1057-1064
International Journal of Clinical Oncology - Immune-checkpoint inhibitors (ICIs) are standard treatments for metastatic non-small cell lung cancer (NSCLC). Patients with poor performance status... 相似文献
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Vilar-Compte Mireya Gaitán-Rossi Pablo Félix-Beltrán Lucía Bustamante Arturo V. 《Journal of immigrant and minority health / Center for Minority Public Health》2022,24(1):65-77
Journal of Immigrant and Minority Health - COVID-19 has disproportionally affected underrepresented minorities (URM) and low-income immigrants in the United States. The aim of the study is to... 相似文献
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María C. Lanuza-López Sandra G. Martínez-Garza Jesús F. Solórzano-Vázquez Daniela Paz-Cervantes Claudia González-Ortega Israel Maldonado-Rosas 《Gynecological endocrinology》2020,36(9):829-834
AbstractOocyte maturation defect is a challenging situation in the management of infertility, the etiology may be related to endocrine causes, protocols used in ovarian stimulation, oocyte intrinsic defects or procedures in embryology laboratory. We report three Mexican females in treatment for primary infertility with non-mature oocytes after ovary stimulation and oocyte capture in whom a genetic diagnosis of TUBB8-oocyte maturation defect was revealed by exome sequencing. Two couples achieved pregnancies though oocyte donation after establishing the genetic etiology. Our results expand the role of TUBB8-disorders in patients of non-Asian ethnicity. Oocyte maturation defects of monogenic origin are a growing group of disorders that endocrinologists and reproductive medicine specialists should be aware in order to provide referral to genetics for establish a correct and opportune diagnosis. 相似文献
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Key Jana Maletzko Antonia Kohli Aneesha Gispert Suzana Torres-Odio Sylvia Wittig Ilka Heidler Juliana Bárcena Clea López-Otín Carlos Lei Yuanjiu West A. Phillip Münch Christian Auburger Georg 《Neurogenetics》2020,21(3):187-203
neurogenetics - Human RNF213, which encodes the protein mysterin, is a known susceptibility gene for moyamoya disease (MMD), a cerebrovascular condition with occlusive lesions and compensatory... 相似文献
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A major advance was made to reduce the side effects of cancer therapy via the elucidation of the tumor-specific lytic path “hyperploid progression-mediated death” targeting retinoblastoma (Rb) or p53-mutants defective in G1 DNA damage checkpoint. The genetic basis of human cancers was uncovered through the cloning of the tumor suppressor Rb gene. It encodes a nuclear DNA-binding protein whose self-interaction is regulated by cyclin-dependent kinases. A 3D-structure of Rb dimer is shown, confirming its multimeric status. Rb assumes a central role in cell cycle regulation and the “Rb pathway” is universally inactivated in human cancers. Hyperploidy refers to a state in which cells contain one or more extra chromosomes. Hyperploid progression occurs due to continued cell-cycling without cytokinesis in G1 checkpoint-defective cancer cells. The evidence for the triggering of hyperploid progression-mediated death in RB-mutant human retinoblastoma cells is shown. Hence, the very genetic mutation that predisposes to cancer can be exploited to induce lethality. The discovery helped to establish the principle of targeted cytotoxic cancer therapy at the mechanistic level. By triggering the lytic path, targeted therapy with tumor specificity at the genetic level can be developed. It sets the stage for systematically eliminating side effects for cytotoxic cancer therapy. 相似文献