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  • Open Access

    REVIEW

    Realizing the potential of exploiting human IPSCs and their derivatives in research of Down syndrome

    YAFEI WANG1,2,#, JIELEI NI1,#, YUHAN LIU2, DINGYING LIAO3, QIANWEN ZHOU1, XIAOYANG JI2, GANG NIU2, YANXIANG NI1,*

    BIOCELL, Vol.47, No.12, pp. 2567-2578, 2023, DOI:10.32604/biocell.2023.043781

    Abstract Down syndrome (DS) is a genetic condition characterized by intellectual disability, delayed brain development, and early onset Alzheimer’s disease. The use of primary neural cells and tissues is important for understanding this disease, but there are ethical and practical issues, including availability from patients and experimental manipulability. Moreover, there are significant genetic and physiological differences between animal models and humans, which limits the translation of the findings in animal studies to humans. Advancements in induced pluripotent stem cells (iPSC) technology have revolutionized DS research by providing a valuable tool for studying the cellular and molecular… More >

  • Open Access

    ARTICLE

    Comprehensively analyzing the genetic alterations, and identifying key genes in ovarian cancer

    QINGLING TANG1, WARDA ATIQ2, SHAISTA MAHNOOR2, MOSTAFA A. ABDEL-MAKSOUD3, MOHAMMED AUFY4, HAMID YAZ3,*, JIANYU ZHU5,*

    Oncology Research, Vol.31, No.2, pp. 141-156, 2023, DOI:10.32604/or.2023.028548

    Abstract Though significant improvements have been made in the treatment methods for ovarian cancer (OC), the prognosis for OC patients is still poor. Exploring hub genes associated with the development of OC and utilizing them as appropriate potential biomarkers or therapeutic targets is highly valuable. In this study, the differentially expressed genes (DEGs) were identified from an independent GSE69428 Gene Expression Omnibus (GEO) dataset between OC and control samples. The DEGs were processed to construct the protein-protein interaction (PPI) network using STRING. Later, hub genes were identified through Cytohubba analysis of the Cytoscape. Expression and survival… More >

  • Open Access

    REVIEW

    Advances in Targeted Therapy Against Driver Mutations and Epigenetic Alterations in Non-Small Cell Lung Cancer

    Jiajian Shi1, Yuchen Chen1,*, Chentai Peng1, Linwu Kuang2, Zitong Zhang1, Yangkai Li2,*, Kun Huang1

    Oncologie, Vol.24, No.4, pp. 613-648, 2022, DOI:10.32604/oncologie.2022.027545

    Abstract The incidence and mortality of lung cancer rank top three of all cancers worldwide. Accounting for 85% of the total number of lung cancer, non-small cell lung cancer (NSCLC) is an important factor endangering human health. Recently, targeted therapies against driver mutations and epigenetic alterations have made encouraging advances that benefit NSCLC patients. Druggable driver mutations, which mainly occur in EGFR, KRAS, MET, HER2, ALK, ROS1, RET and BRAF, have been identified in more than a quarter of NSCLC patients. A series of highly selective mutant targeting inhibitors, such as EGFR tyrosine kinase inhibitors and KRAS inhibitors, have been… More >

  • Open Access

    ARTICLE

    High Prevalence of Genetic Alterations in Infantile-Onset Cardiomyopathy

    Junsung Park1, Go Hun Seo2, Yena Lee1, Yunha Choi1, Minji Kang3, Hyo-Sang Do3, Young-Hwue Kim4, Jeong Jin Yu4, Ellen Ai-Rhan Kim5, Euiseok Jung5, Byong Sop Lee5, Jae Suk Baek4,#,*, Beom Hee Lee1,6,#,*

    Congenital Heart Disease, Vol.16, No.4, pp. 397-410, 2021, DOI:10.32604/CHD.2021.015167

    Abstract Background and Method: The genetic cause of infantile-onset cardiomyopathy is rarely investigated. Here, we conducted whole exome sequencing (WES) and mitochondrial DNA (mtDNA) sequencing in eight patients with infantile-onset cardiomyopathy to identify genetic variations. Result: Among these patients, two (25%) had dilated cardiomyopathy (DCMP), two (25%) had left ventricular non-compaction (LVNC), and four (50%) had hypertrophic cardiomyopathy (HCMP). Except four patients identified prenatally, the remaining patients presented at a median age of 85.5 days. WES identified genetic variants in a total of seven (87.5%) patients and mtDNA sequencing in the other case. TPM1 and MYH7 variants were identified… More >

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