Genes & genomics最新文献_第4页

Identification of genetic loci enriched in obese or lean T2D cases in the Korean population. 韩国人群中肥胖或瘦弱T2D病例基因位点的鉴定。

IF 1.6 4区生物学

Genes & genomics Pub Date : 2025-02-01 Epub Date: 2024-12-18 DOI: 10.1007/s13258-024-01602-x

Eun Bi Lim, Yoon Shin Cho

{"title":"Identification of genetic loci enriched in obese or lean T2D cases in the Korean population.","authors":"Eun Bi Lim, Yoon Shin Cho","doi":"10.1007/s13258-024-01602-x","DOIUrl":"10.1007/s13258-024-01602-x","url":null,"abstract":"Background: Obesity causes many complex diseases including type 2 diabetes (T2D). Obesity increases the risk of T2D in Europeans, but there are many non-obese (lean) T2D patients in East Asia.Objective: To discover genetic factors enriched in obese or lean T2D patients, we conducted a genome-wide association (GWA) analysis for T2D stratified by BMI in the Korean population.Methods: In the discovery stage, 654 and 247 individuals classified as obese (BMI > 25) and lean (BMI < 23) T2D patients, respectively, were compared with 3,842 control subjects for GWA analysis. Several BMI-stratified T2D variants detected in the discovery stage were further tested in the replication stage, which included 402 obese and 220 lean T2D cases, and 3,615 controls.Results: Meta-analysis combining the discovery and replication stages detected two variants with genome-wide significance: rs2356138 [P = 2.8 × 10-8, OR = 2.06 (1.59-2.65)] in obese T2D subjects and rs9295478 [P = 2.5 × 10-9, OR = 1.61 (1.38-1.88)] in lean ones. The SNP rs9295478 is located in CDKAL1, a well-known T2D gene previously identified in several GWA studies. Meanwhile, the SNP rs2356138 is a previously unknown variant located in PKP4.Conclusion: We discovered genetic loci enriched in obese or lean T2D patients in the Korean population. Our findings should facilitate more effective control of T2D in Koreans.","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":"235-243"},"PeriodicalIF":1.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142846493","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The facilitated osteogenic differentiation by extracellular proline treatment in in vitro cell cultivation using MC3T3E1 and hPDLF. 在使用 MC3T3E1 和 hPDLF 的体外细胞培养中，细胞外脯氨酸处理可促进成骨分化。

IF 1.6 4区生物学

Genes & genomics Pub Date : 2025-02-01 Epub Date: 2024-11-20 DOI: 10.1007/s13258-024-01588-6

Sung-Ho Son, Anna Kim, Je-Hee Jang, Elina Pokharel, Bandana Rana, Tae-Young Kim, Jae-Hee Lee, Seo-Young An, Chang-Hyeon An, Kwang-Kyun Park, Tae-Yub Kwon, Jae-Young Kim, Wern-Joo Sohn

{"title":"The facilitated osteogenic differentiation by extracellular proline treatment in in vitro cell cultivation using MC3T3E1 and hPDLF.","authors":"Sung-Ho Son, Anna Kim, Je-Hee Jang, Elina Pokharel, Bandana Rana, Tae-Young Kim, Jae-Hee Lee, Seo-Young An, Chang-Hyeon An, Kwang-Kyun Park, Tae-Yub Kwon, Jae-Young Kim, Wern-Joo Sohn","doi":"10.1007/s13258-024-01588-6","DOIUrl":"10.1007/s13258-024-01588-6","url":null,"abstract":"Proline is a major substrate in collagen biosynthesis and is required for collagen molecule formations. However, detailed explanations of the molecular basis through which proline functions in collagen biosynthesis have yet to be provided. Thus, genome-wide screening was employed to elucidate these in the pre-osteoblastic MC3T3-E1 and human periodontal ligament fibroblast (hPDLF) cell lines. Indeed, both cell lines represent important sources for collagen biosynthesis and tissue regeneration in the dental region, specifically treating extracellular proline during cultivations. The altered gene expression patterns were identified, and the precise expression patterns were confirmed by microarray. Cell viability and osteogenic differentiation patterns were examined using a range of experimental methods, such as the MTS assay, ALP staining, ARS staining, and collagen (COL)-type1A ELISA. Overall, we revealed a cell line-specific function of exogenous proline in collagen biosynthesis during osteogenic differentiation conditions with the candidate signaling pathways. These putative signaling networks could represent plausible answers to understanding collagen biosynthesis for regenerating connective tissues such as skin, muscle, and bone.","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":"157-169"},"PeriodicalIF":1.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142681503","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Digital insights into Pseudomonas aeruginosa PBH03: in-silico analysis for genomic toolbox and unraveling cues for heavy metal bioremediation. 铜绿假单胞菌phh03的数字洞察：基因组工具箱的硅分析和重金属生物修复的解开线索。

IF 1.6 4区生物学

Genes & genomics Pub Date : 2025-02-01 Epub Date: 2024-12-23 DOI: 10.1007/s13258-024-01609-4

Himanshu Khandelwal, Sakuntala Mutyala, Da Seul Kong, Jung Rae Kim

{"title":"Digital insights into Pseudomonas aeruginosa PBH03: in-silico analysis for genomic toolbox and unraveling cues for heavy metal bioremediation.","authors":"Himanshu Khandelwal, Sakuntala Mutyala, Da Seul Kong, Jung Rae Kim","doi":"10.1007/s13258-024-01609-4","DOIUrl":"10.1007/s13258-024-01609-4","url":null,"abstract":"Background: The genomes of publicly available electroactive Pseudomonas aeruginosa strains are currently limited to in-silico analyses. This study analyzed the electroactive Pseudomonas aeruginosa PBH03 genome using comparative in-silico studies for biotechnological applications.Objective: Comparative in-silico and experimental analyses were conducted to identify the novel traits of P. aeruginosa PBH03 by genome sequencing.Methods: The publicly available genomes of Pseudomonas aeruginosa strains (PA01, PA14, and KRP1) were used for a comparative in-silico study with PBH03. Genome assembly, annotation, phylogenetic analysis, metabolic reconstruction, and comparative functional genes analysis were conducted using bioinformatics tools. The experimental analyses were conducted to validate the heavy metal resistance (Hg and Cu), salinity tolerance levels of PBH03, and acetate assimilation under microaerobic conditions.Results: Computational analysis showed that the PBH03 genome had a size of 6.8 Mb base pairs with a GC content of 65.7%. Whole genome annotation identified the unique genes absent in the previously sequenced Pseudomonas aeruginosa genomes. These genes were associated with resistance to heavy metals, such as Cu, Hg, As, and a Co-Zn-Cd efflux system. In addition, clustered, regularly interspaced short palindromic repeats, transposable elements, and conjugative transfer proteins were observed in the clustering-based systems. The strain exhibited resistance to Hg (150 mg/L) and Cu (500 mg/L) and showed growth at salinity levels of 40 g/L (typical sea/ocean levels). PBH03 could consume acetate up to 110 mM.Conclusion: Integrating in-silico and experimental data highlights the intriguing adaptive genomic qualities of PBH03, making it a promising candidate for various biotechnological applications.","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":"275-291"},"PeriodicalIF":1.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142876898","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Baihu Jia Renshen Decoction may improve skeletal muscle and adipose tissue functions of type I diabetic rats by affecting pancreatic β-cell function. 白虎加人肾汤可能通过影响胰腺β细胞功能改善1型糖尿病大鼠骨骼肌和脂肪组织功能。

IF 1.6 4区生物学

Genes & genomics Pub Date : 2025-02-01 Epub Date: 2024-12-21 DOI: 10.1007/s13258-024-01607-6

Shufang Chu, Deliang Liu, Hengxia Zhao, Ling Liu, Juntong Li, Gaoxiang Wang, Xuemei Liu, Huilin Li

{"title":"Baihu Jia Renshen Decoction may improve skeletal muscle and adipose tissue functions of type I diabetic rats by affecting pancreatic β-cell function.","authors":"Shufang Chu, Deliang Liu, Hengxia Zhao, Ling Liu, Juntong Li, Gaoxiang Wang, Xuemei Liu, Huilin Li","doi":"10.1007/s13258-024-01607-6","DOIUrl":"10.1007/s13258-024-01607-6","url":null,"abstract":"Background: Baihu Jia Renshen Decoction (BJRD) is used for diabetes mellitus (DM) management in clinics.Objective: To elucidate the potential mechanism of BJRD in treating type 1 DM (T1DM).Methods: T1DM models were established via intraperitoneal injection of streptozotocin (STZ). Rats were subsequently randomly divided into the normal control (NC), model (MOD), insulin (INS), INS + BJRD-medium dose (MID), and INS + BJRD-high dose (HIGH) groups. The rats' body weight was measured. Transcriptome sequencing was performed to detect differentially expressed genes (DEGs) in the muscle and adipose tissues. Quantitative real-time polymerase chain reaction was utilized to verify the DEG levels.Results: Body weights of MOD, INS, MID, and HIGH groups were significantly reduced as compared to those of NC group. Compared with NC group, MOD group showed significant Hspa1b and Notch3 downregulation and Camkk2 level elevation. Compared with MOD group, INS group showed further downregulation of the Hspa1b level, whereas MID group exhibited an increase. The Camkk2 levels in INS, MID, and HIGH groups were further reduced. The Notch3 levels did not significantly change in INS and MID groups, whereas that of HIGH group increased. Additionally, compared with NC group, MOD group demonstrated upregulation of the Myl1, Mylpf, Acacb, and Pygm levels and downregulation of Fasn level. Compared with MOD group, Myl1, Mylpf, and Pygm levels in INS, MID, and HIGH groups were down-regulated, whereas Fasn and Acacb levels were up-regulated.Conclusion: BJRD may influence pancreatic β-cell function, thereby enhancing the function of the skeletal muscle and adipose tissues in a T1DM rat model.","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":"263-273"},"PeriodicalIF":1.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11758189/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142871895","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Population genetics analysis based on mitochondrial cytochrome c oxidase subunit I (CO1) gene sequences of Cottus koreanus in South Korea. 基于韩国 Cottus koreanus 线粒体细胞色素 c 氧化酶亚单位 I (CO1) 基因序列的种群遗传学分析。

IF 1.6 4区生物学

Genes & genomics Pub Date : 2025-02-01 Epub Date: 2024-11-20 DOI: 10.1007/s13258-024-01600-z

Bong Han Yun, Yong Hwi Kim, Ho-Seop Han, In-Chul Bang

{"title":"Population genetics analysis based on mitochondrial cytochrome c oxidase subunit I (CO1) gene sequences of Cottus koreanus in South Korea.","authors":"Bong Han Yun, Yong Hwi Kim, Ho-Seop Han, In-Chul Bang","doi":"10.1007/s13258-024-01600-z","DOIUrl":"10.1007/s13258-024-01600-z","url":null,"abstract":"Background: The freshwater sculpin Cottus koreanus is endemic to the Korean Peninsula and has a fluvial life history. However, its population has been greatly reduced and it is now listed as an endangered class II species.Objective: To obtain important information for its conservation, we examine the genetic diversity, population structure, and demographic history of C. koreanus through mitochondrial cytochrome c oxidase subunit I (CO1) gene sequence analysis.Methods: We analyzed the CO1 gene sequences of 430 individuals of C. koreanus from 23 populations in South Korea.Results: In all, 32 haplotypes were defined by 124 variable nucleotide sites, of which 28 were unique haplotypes not shared with other regional populations. All sampled populations had high haplotype diversity (Hd = 0.941) and low nucleotide diversity (π = 0.0146). Median-joining network analysis identified two divergent clusters: cluster I that had unique haplotype patterns assigned to each population and cluster II that had a star-like pattern. Each was supported by pairwise FST values and hierarchical analysis of molecular variance. The results of the mismatch distribution, goodness-of-fit test, and extended Bayesian skyline plot analysis showed that cluster I has experienced a gradual population expansion since the last glacial maximum, while cluster II experienced a sudden one. The results of neutrality testing supported the results for cluster II but the signal was weak.Conclusions: C. koreanus inhabits the upper reaches of rivers and has extremely low dispersal ability, resulting in unique genetic structure patterns among populations. Therefore, all populations should be managed and conserved separately.","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":"207-221"},"PeriodicalIF":1.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142681046","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Propylparaben-induced endoplasmic reticulum stress triggers G2/M phase cell cycle arrest and initiates caspase-3-dependent apoptosis in human lung cells. 对羟基苯甲酸丙酯诱导的内质网应激触发G2/M期细胞周期阻滞并启动caspase-3依赖性凋亡。

IF 1.6 4区生物学

Genes & genomics Pub Date : 2025-02-01 Epub Date: 2024-12-19 DOI: 10.1007/s13258-024-01605-8

Geun-Seup Shin, Yuna Park, Ji-Young Kim, Chul-Hong Kim, Mi-Jin An, Hyun-Min Lee, Ah-Ra Jo, Jinho Kim, Yujeong Hwangbo, Jung-Woong Kim

{"title":"Propylparaben-induced endoplasmic reticulum stress triggers G2/M phase cell cycle arrest and initiates caspase-3-dependent apoptosis in human lung cells.","authors":"Geun-Seup Shin, Yuna Park, Ji-Young Kim, Chul-Hong Kim, Mi-Jin An, Hyun-Min Lee, Ah-Ra Jo, Jinho Kim, Yujeong Hwangbo, Jung-Woong Kim","doi":"10.1007/s13258-024-01605-8","DOIUrl":"10.1007/s13258-024-01605-8","url":null,"abstract":"Background: Propylparaben (PrP) is commonly used as an antimicrobial agent in food, cosmetics, and pharmaceuticals. While recent studies have shown that PrP exposure can cause various disruptions in cellular physiology, the precise mechanisms behind these effects remain unclear.Objective: In this study, we sought to examine the cytotoxic effects of PrP exposure on human lung cells in a dose- and time-dependent manner. We utilized flow cytometry to analyze the expression of proteins associated with the cell cycle and apoptosis at the single-cell level.Results: Our results showed that PrP treatment leads to a significant upregulation of genes related to ER stress. The activation of ER stress results in a decrease in cyclin B1 levels, which subsequently causes cell cycle arrest at the G2/M phase. After 48 h of PrP exposure, the unfolded protein response (UPR) triggers an apoptotic signaling pathway, increasing the number of cells undergoing caspase-3-mediated apoptosis. Together, these physiological changes lead to a reduction in cell viability in the presence of PrP.Conclusion: These findings suggest that PrP exerts harmful effects on human lung cells by activating ER stress, which can lead to apoptosis and cell cycle arrest.","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":"223-233"},"PeriodicalIF":1.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142853934","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

miR-214-3p inhibits LPS-induced macrophage inflammation and attenuates the progression of dry eye syndrome by regulating ferroptosis in cells. miR-214-3p 通过调节细胞中的铁蛋白沉积抑制 LPS 诱导的巨噬细胞炎症并减轻干眼症的进展。

IF 1.6 4区生物学

Genes & genomics Pub Date : 2025-02-01 Epub Date: 2024-11-20 DOI: 10.1007/s13258-024-01598-4

Dandan Zhao, Hao Ji, Weijia Zhang, Anni He, Caizhe Guo, Li Ma, Yan Liu

{"title":"miR-214-3p inhibits LPS-induced macrophage inflammation and attenuates the progression of dry eye syndrome by regulating ferroptosis in cells.","authors":"Dandan Zhao, Hao Ji, Weijia Zhang, Anni He, Caizhe Guo, Li Ma, Yan Liu","doi":"10.1007/s13258-024-01598-4","DOIUrl":"10.1007/s13258-024-01598-4","url":null,"abstract":"Background: Dry eye disease (DED) is an ocular illness caused by insufficient tear secretion or poor tear quality, and inflammation is a key factor in its pathogenesis. Previous studies have shown that miRNAs are important regulatory factors in DED.Objective: The purpose of this study was to explore the potential mechanism by which miR-214-3p influenced the DED process by regulating the macrophage inflammatory response.Methods: We induced THP-1 cells to differentiate into M0 macrophages with 100 ng/mL phorbol-12-myristate-13-acetate (PMA) and then added 15 ng/mL lipopolysaccharide (LPS) to induce inflammation. The expression of related genes and proteins was detected via RT‒qPCR, Western blotting, ELISA and immunofluorescence staining; cell viability was measured using the CCK-8 assay; and flow cytometry was used to detect ROS levels.Results: In tear and serum samples from DED patients, the levels of miR-214-3p, IL-10, and Arg1 were decreased, and the levels of IL-6, TNF-α, IL-1β, and iNOS expression were increased. Moreover, the overexpression of miR-214-3p attenuated the effect of LPS and inhibited M1 polarization and inflammation in macrophages. Mechanistically, miR-214-3p inhibited macrophage ferroptosis by downregulating TFRC expression, thereby inhibiting macrophage M1 polarization and inflammation and alleviating the progression of DED.Conclusions: Our study indicated that the upregulation of miR-214-3p expression might be a new target for DED therapy.","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":"183-195"},"PeriodicalIF":1.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142681027","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

BRN3A, a transcription factor, regulates the expression of genes involved in biological processes shaping the HPV induced cervical cancer. BRN3A 是一种转录因子，它能调节参与形成人乳头瘤病毒诱发宫颈癌的生物过程的基因的表达。

IF 1.6 4区生物学

Genes & genomics Pub Date : 2025-01-28 DOI: 10.1007/s13258-025-01620-3

Anand Prakash, Yashvant Patel, Jagat Kumar Roy

{"title":"BRN3A, a transcription factor, regulates the expression of genes involved in biological processes shaping the HPV induced cervical cancer.","authors":"Anand Prakash, Yashvant Patel, Jagat Kumar Roy","doi":"10.1007/s13258-025-01620-3","DOIUrl":"https://doi.org/10.1007/s13258-025-01620-3","url":null,"abstract":"Background: Cervical cancer is the fourth most common cancer worldwide in females. This occurs primarily due to the infection of high-risk Human Papilloma Virus (HPV), although in advanced stages it requires support from host cellular factors. BRN3A is one such host cellular factors, whose expression remains high in cervical cancers and upregulates tumorigenic HPV gene expression. The effect of BRN3A on HPV-mediated cervical cancer and the underlying mechanism remains obscure.Objective: To investigates the effect of BRN3A on cancer-promoting biological processes in HPV-positive uterine cervix cancer cells.Methods: We have altered the expression of BRN3A through over-expression (OE) and knock-down (KD) constructs in cervical cancer cell line, SiHa, and did transcriptome profiling through next-generation RNA-sequencing, validation through RT-PCR and BRN3A binding study with in silico promoter study and ChIP PCR methods.Results: This study revealed a substantial change in the expression of several genes associated with cancer-promoting biological processes including viral processes, immune response, cell-death, cell-proliferation, different signaling pathways, etc. Additionally, promoter analysis through in silico mode revealed that a total of 32.7% of genes possess BRN3A binding sites at their promoters. Physical interaction of BRN3A with IFITM1, OAS3, ISG15, BCL2L1 and HSP90AB1 genes was also confirmed.Conclusions: The present study identified molecular targets of BRN3A and provided new insight into the pathogenesis of cervical cancer. According to our knowledge, this is the first report on the effect on eukaryotic transcriptomes after over-expression and knocking down BRN3A.","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143052225","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Correction to: A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity.

IF 1.6 4区生物学

Genes & genomics Pub Date : 2025-01-27 DOI: 10.1007/s13258-024-01603-w

Giada Moresco, Ornella Rondinone, Alessia Mauri, Rita Gorgoglione, Daniela Maria Grazia Graziani, Michal Dziuback, Monica Rosa Miozzo, Silvia Maria Sirchia, Luca Pietrogrande, Angela Peron, Laura Fontana

引用次数: 0

Advances in cancer genomics and precision oncology.

IF 1.6 4区生物学

Genes & genomics Pub Date : 2025-01-23 DOI: 10.1007/s13258-024-01614-7

Yonjong Heo, Woo-Jin Kim, Yong-Joon Cho, Jae-Won Jung, Nam-Soo Kim, Ik-Young Choi

{"title":"Advances in cancer genomics and precision oncology.","authors":"Yonjong Heo, Woo-Jin Kim, Yong-Joon Cho, Jae-Won Jung, Nam-Soo Kim, Ik-Young Choi","doi":"10.1007/s13258-024-01614-7","DOIUrl":"https://doi.org/10.1007/s13258-024-01614-7","url":null,"abstract":"Background: Next-generation sequencing has revolutionized genome science over the last two decades. Indeed, the wealth of sequence information on our genome has deepened our understanding on cancer. Cancer is a genetic disease caused by genetic or epigenetic alternations that affect the expression of genes that control cell functions, particularly cell growth and division. Utilization of next-generation sequencing in cancer gene panels has enabled the identification of actionable gene alterations in cancer patients to guide personalized precision medicine.Objective: The aim is to provide information that can identify actionable gene alterations, enabling personalized precision medicine for cancer patients.Results & discussion: Equipped with next-generation sequencing techniques, international collaboration programs on cancer genomics have identified numerous mutations, gene fusions, microsatellite variations, copy number variations, and epigenetics changes that promote the transformation of normal cells into tumors. Cancer classification has traditionally been based on cell type or tissue-of-origin and the morphological characteristics of the cancer. However, interactive genomic analyses have currently reclassified cancers based on systemic molecular-based taxonomy. Although all cancer-causing genes and mechanisms have yet to be completely understood or identified, personalized or precision medicine is now currently possible for some forms of cancer. Unlike the \"one-size-fits-all\" approach of traditional medicine, precision medicine allows for customized or personalized treatment based on genomic information.Conclusion: Despite the availability of numerous cancer gene panels, technological innovation in genomics and expansion of knowledge on the cancer genome will allow precision oncology to manage even more types of cancers.","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143028557","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0