YAFEI WANG^1,2,#, JIELEI NI^1,#, YUHAN LIU², DINGYING LIAO³, QIANWEN ZHOU¹, XIAOYANG JI², GANG NIU², YANXIANG NI^1,*

BIOCELL, Vol.47, No.12, pp. 2567-2578, 2023, DOI:10.32604/biocell.2023.043781 - 27 December 2023

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 >

QINGLING TANG¹, WARDA ATIQ², SHAISTA MAHNOOR², MOSTAFA A. ABDEL-MAKSOUD³, MOHAMMED AUFY⁴, HAMID YAZ^3,*, JIANYU ZHU^5,*

Oncology Research, Vol.31, No.2, pp. 141-156, 2023, DOI:10.32604/or.2023.028548 - 10 April 2023

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 >

Jiajian Shi¹, Yuchen Chen^1,*, Chentai Peng¹, Linwu Kuang², Zitong Zhang¹, Yangkai Li^2,*, Kun Huang¹

Oncologie, Vol.24, No.4, pp. 613-648, 2022, DOI:10.32604/oncologie.2022.027545 - 31 December 2022

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 >

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 Baek^4,#,*, Beom Hee Lee^1,6,#,*

Congenital Heart Disease, Vol.16, No.4, pp. 397-410, 2021, DOI:10.32604/CHD.2021.015167 - 19 April 2021

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 >