Journal of Applied Genetics最新文献

{"title":"Identification of colorectal cancer molecular subtypes and prognostic features based on basement membrane-related genes.","authors":"Leilei Yang, Zhiqing Ji, Yufeng Ren, Chengfeng Fang, Jiaju Han, Dinghai Luo, Ruili Zhang, Shenkang Zhou","doi":"10.1007/s13353-025-00992-2","DOIUrl":"10.1007/s13353-025-00992-2","url":null,"abstract":"<p><p>Recent evidence suggests that the basement membrane (BM) plays an important role in the progression of colorectal cancer (CRC). Here, we investigate the prognostic value of CRC based on BM-associated genes. BM-related differentially expressed genes (DEGs) in CRC were obtained through analysis of The Cancer Genome Atlas public database and literature. The DEGs were used to cluster tumor samples and perform survival analysis. A prognostic model was constructed based on the DEGs in CRC through regression analysis, and its predictive effect was evaluated and validated using the GEO dataset. The correlation between riskscore and tumor progression was evaluated, and Cox regression was used to verify the independence of riskscore by combining it with different clinical factors. A nomogram was drawn to predict the prognosis of CRC individuals. The differences in immune microenvironment between high-risk (H) and low-risk (L) groups were analyzed by ssGSEA and ESTIMATE. The tumor mutation burden (TMB) was calculated for the two groups. Drug sensitivity prediction was performed for the two groups. Finally, the expression levels of prognostic feature genes were validated through qPCR. Based on BM-related DEGs, CRC samples were classified into 2 clusters, with cluster 1 having significantly lower survival rates. A prognostic model was developed based on 7 genes (AGRN, TIMP1, UNC5A, SPARCL1, ADAMTS6, MMP1, and UNC5C). The model exhibited high predictive accuracy and demonstrated the potential to serve as an independent prognostic factor for predicting the prognosis of CRC individuals. A higher riskscore indicated a higher degree of tumor progression. Group H demonstrated higher levels of immune infiltration and TMB, suggesting that individuals in this group might be more suitable for immune therapy. Two first-line anti-tumor drugs, Gemcitabine and Cisplatin, with higher sensitivity to individuals in group L were obtained. The q-PCR results of the feature genes were consistent with the results of gene expression in the database. This study established a 7-gene BM-related prognostic model that could be used to analyze the immune landscape of CRC individuals and predict their sensitivity to immunotherapy and chemotherapy. This research provided a reference for the prognosis prediction and immunotherapy of CRC individuals.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":"711-729"},"PeriodicalIF":2.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144768674","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cellular and molecular changes in mucopolysaccharidosis-plus syndrome caused by a homozygous c.599G > C (p.Arg200Pro) variant of the VPS33A gene.","authors":"Zuzanna Cyske, Estera Rintz, Magdalena Narajczyk, Natalia Świątek, Lidia Gaffke, Karolina Pierzynowska, Grzegorz Węgrzyn","doi":"10.1007/s13353-025-00997-x","DOIUrl":"10.1007/s13353-025-00997-x","url":null,"abstract":"<p><p>Mucopolysaccharidosis-plus syndrome (MPSPS) is an ultrarare inherited metabolic disease (a few dozen patients diagnosed to date) which is characterised by accumulation of undegraded glycosaminoglycans (GAGs). Despite GAG storage occurs also in the groups of diseases classified as mucopolysaccharidoses (MPS), contrary to MPS, no dysfunctions of lysosomal enzymes is detected in MPSPS which is caused by mutations in the VPS33A gene. The c.1492C > T (p.Arg498Trp) variant, associated with a severe course of the disease, was found in most MPSPS patients. There are only two patients described to date with a homozygous c.599G > C (p.Arg200Pro) variant and a milder (juvenile) form. Until now, the molecular mechanism of MPSPS remained largely unknown, especially for the juvenile form. Here, a battery of cellular and molecular assays, performed using fibroblasts derived from a patient bearing the c.599G > C (p.Arg200Pro) variant of the VPS33A gene, indicated specific changes in cellular vacuoles, elevated levels of the EEA1 protein (required at the stages of the fusions of early and late endosomes, and early endosome sorting), changes in Golgi apparatus morphology, decreased levels of F-actin, and increased levels of α- and β-tubulins, as well as elevated levels of the LC3-II and p62 proteins (autophagy markers). Results of experiments presented here might suggest that severely decreased levels the p.Arg200Pro variant of VSP33A could cause defective endosomal trafficking, possibly resulting in inefficient delivery of GAGs to lysosomes, and their subsequent accumulation in cells. This might induce a cascade of secondary and tertiary disorders, finally expressing as the disease symptoms.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":"683-699"},"PeriodicalIF":2.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13534158/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144775392","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of variants from gene expression data of opioid-addicted patients.","authors":"Swati Ajmeriya, Biswadip Chatterjee, Subhradip Karmakar","doi":"10.1007/s13353-025-00989-x","DOIUrl":"10.1007/s13353-025-00989-x","url":null,"abstract":"<p><p>NGS (next-generation sequencing) has become a rapid advance in discovering the variants in the genomic data for disease diagnosis, prognosis, and therapeutic decision. However, the scope of detecting single nucleotide polymorphisms (SNPs) becomes limited by the availability of reliable high-throughput data. OUD (opioid use disorder) is a chronic condition marked by prolonged opioid misuse, leading to cycles of relapse and remission. The discovery of genetic variants associated with OUD is constrained by limited genomic data, making it crucial to identify these variants and their genetic factors. The identification of variants from RNA-seq (RNA-sequencing) data can become the representative of the SNP analysis that is generally preferred from the whole genome or exome sequencing data. This study aimed to identify variants from gene expression data downloaded from NCBI GEO with accession PRJNA492904 in postmortem ventral midbrain specimens of chronic opioid users. We hypothesized that the NRXN3 gene would exhibit the highest number of variants due to its significant role in neuronal synapse function and its association with opioid addiction and impulsivity. We utilized RNA-Seq data from OUD patients (PRJNA492904, NCBI SRA) to detect variants in expressed RNA, which can indicate functional protein changes. Eight genes were analyzed: BDNF, DRD2, DRD3, NRXN3, OPRD1, OPRM1, and NGFB, with a primary focus on NRXN3. Our findings revealed the highest number of variants in NRXN3 compared to the other genes, highlighting its potential importance in OUD and the robustness of RNA-Seq in variant detection.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":"669-681"},"PeriodicalIF":2.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144583916","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Investigation of antibiotic resistance profiles, characteristics of ESBL (extended spectrum beta-lactamase) and PMQR (plasmid mediated quinolone resistance) genes of Klebsiella pneumoniae strains isolated from hospitals in Konya province.","authors":"İhsan Obalı, Emine Arslan, Ahmet Uysal","doi":"10.1007/s13353-026-01096-1","DOIUrl":"10.1007/s13353-026-01096-1","url":null,"abstract":"<p><p>Klebsiella pneumoniae (K. pneumoniae) is a bacterium that causes the production of thick, viscous mucus. Lower respiratory tract infections caused by K. pneumoniae are characterized by the presence of thick mucus. It can also lead to surgical site infections, urinary tract infections (UTIs), diarrhea, upper respiratory tract infections, wound infections, meningitis, bacteremia, and septicemia. This study aimed to determine the phenotypic and genotypic ESBL production, antibiotic susceptibility, and plasmid-mediated quinolone resistance (PMQR) genes in 192 K. pneumoniae strains (55.2% urine) isolated from clinical samples in hospitals in Konya province. Phenotypic ESBL production was assessed using the double disc synergy test. The presence of blaCTX-M, blaTEM, blaOXA, and blaSHV genes was investigated by multiplex PCR. PMQR genes (qnrA, qnrD, qnrB, qnrS, oqxAB, aac(6')-Ib-cr, qepA, qnrC) were also screened by multiplex PCR. Among the 192 isolates, 36 (18.75%) were phenotypically ESBL-positive and 186 (96.87%) were genotypically positive. Of the 19 antibiotics tested, the highest resistance was to Ampicillin (10 µg) (97.9%), and the lowest to Colistin (10 µg) (11.45%). All strains were resistant to at least one antibiotic, with 113 different resistance profiles identified. According to the multiple antibiotic resistance (MAR) index, 72% (139) of strains had an index > 0.2. The most prevalent ESBL gene was blaSHV (184; 95.83%), followed by blaTEM (95; 49.47%), blaOXA (87; 45.31%), and blaCTX-M (27; 14.06%). The most common ESBL gene combination was blaSHV + blaTEM + blaOXA (26.5%). Among PMQR genes, oqxAB was most frequent (156; 81.25%), while qnrC was least frequent (7; 3.6%). These findings highlight the importance of detecting ESBL-producing strains and PMQR genes for effective therapy. Rapid identification using multiplex PCR may help prevent prolonged hospitalization and improve patient outcomes.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":"839-854"},"PeriodicalIF":2.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148421347","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic background of Richter transformation of atypical chronic lymphocytic leukemia to diffuse large B-cell lymphoma - a case study.","authors":"Sandra Przybysz, Anna Łojko-Dankowska, Magdalena Rakoczy, Małgorzata Marcinkowska-Swojak, Michał Zeńczak, Kinga Gwóźdź-Bąk, Luiza Handschuh, Krzysztof Lewandowski","doi":"10.1007/s13353-025-00999-9","DOIUrl":"10.1007/s13353-025-00999-9","url":null,"abstract":"<p><p>Atypical chronic lymphocytic leukemia (aCLL) is an indolent lymphoproliferative neoplasm derived from CD19-positive and CD5 or CD23-negative B cells. This paper presents the results of whole genome sequencing (WGS) of lymphoma cells collected from a 29-year-old woman initially diagnosed with aCLL and successfully treated with fludarabine, cyclophosphamide, and rituximab. Eight years later, due to disease progression, she was treated with ibrutinib. After 5 months, her status suddenly deteriorated. PET-CT results suggested Richter transformation (RT). Histopathological examination of nodal lesions confirmed the diagnosis of Diffuse Large B Cell Lymphoma (DLBCL). Finally, the patient was successfully treated with DHAP-R and alloHSCT. WGS of lymphoma cells revealed the presence of pathogenic (COL11A1, MGME1) and likely pathogenic variants (ZMYM3, ALG6, UBA5, and ATG7). Out of these genes, only ZMYM3 is recurrently mutated in B-cell chronic lymphocytic leukemia (B-CLL). The presence of the other lesions requires further studies and indicates the complex molecular background of aCLL transformation to DLBCL. Therefore, the whole-genome variant assessment is worth considering for introduction into a routine procedure at the time of B-CLL diagnosis, especially when RT is suspected.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":"743-747"},"PeriodicalIF":2.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13534210/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144804115","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"SLC25A38 gene modification mediated by CRISPR/Cas9 in HEK293T cell line.","authors":"Shokoufeh Yazdanparast, Hamid Galehdari, SaeidReza Khatami, Elham Hoveizi","doi":"10.1007/s13353-026-01108-0","DOIUrl":"https://doi.org/10.1007/s13353-026-01108-0","url":null,"abstract":"<p><p>Sideroblastic anemia is a rare disease and one of the heterogeneous bone marrow disorders. Gene therapy is considered as a method for treating these patients. The CRISPR/Cas9 system can recognize specific genomic DNA sequences and create Double-Strand Breaks (DSBs) in DNA. In this study, we attempted to investigate the effect of different sgRNAs in creating targeted cleavage in the desired region using the CRISPR/Cas9 system and inducing changes in the disease-related gene. Following the design of six sgRNAs, recombinant pX458 and pX459 plasmids harboring the respective sgRNA sequences were constructed and transfected into HEK293T cells. After transfection, the efficiency of targeted cleavage of the designed sgRNAs was evaluated using polyacrylamide gel electrophoresis (PAGE)-based analysis of the target amplicons and subsequently confirmed by Sanger sequencing. Based on the sequencing results, it was shown that in three out of four samples examined, the CRISPR/Cas9 system successfully created targeted disruption at the desired site. Here, we report that the choice of sgRNA target site affects its targeted cleavage activity and show that the combination of guideRNA with SpCas9 can effectively delete the exonic fragment of the SLC25A38 gene in HEK293T cells.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148808583","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correlation and path analysis in winter oilseed rape (Brassica napus L.) cultivars based on yield and phenotypic traits.","authors":"Jan Bocianowski, Konrad Banaś, Alina Liersch, Elżbieta Starzycka-Korbas","doi":"10.1007/s13353-026-01107-1","DOIUrl":"10.1007/s13353-026-01107-1","url":null,"abstract":"<p><p>The aim of this study was to access variability of different cultivars of winter oilseed rape for yield, yield components and seed quality traits by multivariable statistical method. Traits including seed yield, silique length, number of seeds per siliques, weight of 1000 seeds, content of oil in the seeds, two unsaturated fatty acids (linoleic, linolenic) and glucosinolate content in seed meal (gluconapine, glucobrassicanapine, progoitrine and total glucosinolates) were investigated. Seven cultivars of oilseed rape were evaluated in a randomized block design, with four replicates at two locations in two growing seasons. The tested genotypes displayed wider genetic variability for studied traits in all environments. The results of canonical variate analyses explained from 79.2% in 2004 (Bor4) to 93.7% in 2004 (Ziel3) of total variability. The first (V₁) and the second (V₂) canonical variate explained 74.4% and 15.9% of the total variation in Borowo (2003), 61.8% and 17.4% in Borowo (2004), 74% and 19.7% in Zielęcin (2003) and 56.4% and 26.1% in Zielęcin (2004), respectively. The traits that had the greatest impact on seed output across all settings were weight of 1000 seeds, silique length, oil content, linolenic fatty acid, and gluconapine, according to path analyses based on correlation matrices. Heat maps extended with the results of the cluster analysis for selected traits showed which genotypes are the most desirable for cultivation. As a results, cultivars Kaszub, Mazur as well as Pomorz demonstrated good average values of observed traits and higher stability to changeable environmental conditions.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148793346","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genome-wide identification and expression analysis of chickpea U-box E3 ligases identifies CaPUB4 and CaPUB16 as candidate responsive genes for abiotic stress tolerance.","authors":"Nithya Fernandes, G Meher Unnati, Surjit Bhattacharjee, Ashutosh Pandey, Neelam Mishra","doi":"10.1007/s13353-026-01105-3","DOIUrl":"10.1007/s13353-026-01105-3","url":null,"abstract":"<p><p>U-box E3 ubiquitin ligases play a crucial role in post-translational protein modification, stress signaling, and cellular adaptation in plants. In this study, 38 non-redundant CaPUB genes were identified from the chickpea (Cicer arietinum) genome and characterized for their phylogenetic relationships, domain architecture, gene structures, and expression profiles. Synteny and gene ontology analyses revealed evolutionary conservation with Lotus japonicus and Arabidopsis thaliana, and functional involvement in processes such as ubiquitination, signaling, and stress responses. RNA sequencing and qPCR analyses demonstrated distinct tissue-specific expression patterns. Specifically, CaPUB14 and CaPUB2 were predominantly expressed in particular organs, whereas CaPUB4 and CaPUB16 were upregulated under drought and salt stress in the stress-tolerant ICC4958 cultivar. Functional interaction network analysis revealed that CaPUB4 and CaPUB16 proteins interact with an identical set of partner proteins, supporting the hypothesis that these ligases may function collaboratively in stress adaptation. Collectively, these findings provide insights into the diversity, expression patterns, and potential regulatory roles of the CaPUB gene family, highlighting promising candidate genes for future functional characterization and their possible utility in improving crop stress resilience.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148727773","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Investigation of testicular METRNL and RARRES2 expression in non-obstructive azoospermia.","authors":"Firat Ozcelik, Hilal Akalin, Izem Olcay Sahin, Emre Can Akinsal, Hulya Akgun, Munis Dundar, Oguz Ekmekcioglu, Yusuf Ozkul","doi":"10.1007/s13353-026-01106-2","DOIUrl":"https://doi.org/10.1007/s13353-026-01106-2","url":null,"abstract":"<p><p>Non-obstructive azoospermia is a severe form of male infertility characterized by impaired spermatogenesis. Given the strong evidence linking obesity and chronic inflammation to male reproductive dysfunction, we aimed to investigate the role of adipokines METRNL (Meteorin-like protein) and RARRES2 (Chemerin) in non-obstructive azoospermia pathogenesis. We conducted a retrospective study using the testicular biopsy samples of 35 patients (12 cases were obese, 23 cases had normal body mass index) with non-obstructive azoospermia and 18 patients with obstructive azoospermia and/or vas deferens agenesis. We compared the testicular METRNL and RARRES2 mRNA expressions of obese and non-obese non-obstructive azoospermia cases with controls (obstructive azoospermia cases with intact spermatogenesis). We detected significantly increased RARRES2 expression in both obese and non-obese non-obstructive azoospermia patients. Even though statistically non-significant, we observed a higher RARRES2 expression trend in histologically more severe non-obstructive azoospermia cases. We also detected a significant inverse correlation between RARRES2 expression and Johnsen score, an indicator of seminiferous tubule integrity and spermatogenesis status. Conversely, we found no significant difference in METRNL expression across the study groups. Broader studies are needed to validate our results and investigate the mechanisms of increased RARRES2 (chemerin) expression in the azoospermia cases with defective spermatogenesis.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148712627","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hypoxia-inducible factor-1 (HIF-1) in the molecular mechanisms of liver fibrosis: research progress on its role and therapeutic strategies.","authors":"Caiyun Zhou, Li Wang","doi":"10.1007/s13353-026-01103-5","DOIUrl":"10.1007/s13353-026-01103-5","url":null,"abstract":"<p><p>Liver fibrosis, as a common pathological process in various chronic liver diseases, severely impacts patients' quality of life and prognosis. The core mechanisms driving its progression involve the activation of hepatic stellate cells (HSCs), sustained inflammatory responses, and cellular metabolic reprogramming. Within this process, hypoxia-inducible factor-1 (HIF-1), a key transcription factor enabling cellular adaptation to hypoxic environments, has been shown to play a significant role. Current research further demonstrates that HIF-1 participates in multiple molecular mechanisms of liver fibrosis by regulating HSC activation, promoting inflammation, and modulating metabolic pathways. However, the precise regulatory networks of HIF-1 in liver fibrosis and effective intervention strategies remain poorly understood.Therefore, this article systematically reviews the molecular regulatory network of HIF-1 in liver fibrosis, with a particular focus on its role in cell apoptosis and metabolic reprogramming. Furthermore, it summarizes recent advances in therapeutic strategies targeting HIF-1 and its related signaling pathways, including the development and application of HIF-1 inhibitors, natural products, and small-molecule drugs. In summary, by integrating the latest basic and clinical research findings, this review aims to provide theoretical support and identify future research directions for targeted therapy of liver fibrosis, thereby facilitating the clinical translation of relevant treatment approaches.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148723534","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}