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2024 Vol. 54, No. 7 Published: 2024-07-25   517 Empagliflozin regulating lysosomal autophagy through transcription factor EB to alleviate human umbilical vein endothelial cells injury WU Chunhui, WU Huiyang, WU Mao, NIU Chao, ZHU Jinshun,CHU Maoping DOI: 10.3969/j.issn.2095-9400.2024.07.001 Objective: To investigate the mechanism of how Empagliflozin (EMPA) improves endothelial injury in human primary umbilical vein endothelial cells (HUVECs). Methods: HUVECs were stimulated with were stimulated with TNFα, and divided into four groups: ①Control group: treated with PBS; ②TNFα group:stimulated with TNFα; ③EMPA group: TNFα+EMPA; ④BAF group: Bafilomycin A1 (Baf A1)+TNFα+EMPA;⑤siTFEB group: transcription factor EB (TFEB) was pre-interfered before cell modeling, and the rest processing was the same as the EMPA group. After 24 hours of modeling, cells were collected. Western blot (detecting the expression of proteins such as lysosome-associated membrane protein 1 (LAMP1), P62, LC3, VE-cadherin,TFEB, pTFEB, etc.), cell immunofluorescence (VE-cadherin, LAMP1, TFEB, etc.), monocyte adhesion, cell leakage, RNA sequencing, adenovirus transfection GFP-LC3 (detecting the amount of LC3 accumulation in cells),lentivirus transfection RFP-GFP-LC3 (detecting autophagy flow in cells) were performed. Results: Western blot results showed that, compared with the control group, the TNFα group significantly increased levels of P62,LC3, and pTFEB (P<0.01), while LAMP1 and TFEB levels decreased significantly (P<0.01). Compared with the TNFα group, the EMPA group showed decreased P62, LC3, and pTFEB levels (P<0.05) but increased LAMP1 and TFEB levels (P<0.05). The BAF group demonstrated higher P62 and LC3 expression than the EMPA group (P<0.01). After TFEB interference, the siTFEB group had increased P62 and LC3 expression compared with the EMPA group (P<0.01), with LAMP1 level decreased (P<0.01). Immunofluorescence results indicated that TNFα group had increased TFEB accumulation in the cytoplasm, compared with the control group (P<0.01), and the EMPA group had less TFEB cytoplasmic accumulation than the TNFα group (P<0.01). RNA measurements suggested that EMPA activated the autophagy pathway. The RFP-GFP-LC3 dual fluorescence results showed that the EMPA group had more autolysosome formation than the TNFα group (P<0.01). Conclusion: Empagliflozin enhances lysosomal autophagy through TFEB, thereby improving endothelial damage in HUVECs. 2024 Vol. 54 (7): 517-527 [Abstract] ( 206 ) HTML (1 KB)  PDF (2719 KB)  ( 452 ) 528 Acidic fibroblast growth factor inhibits inflammation and promotes functional recovery of vascular endothelial cells via regulating Ang1/Tie2 signaling pathway ZHANG Xin, YIN Yihu, MAO Junnan,LI Qiubo, LIN Cai DOI: 10.3969/j.issn.2095-9400.2024.07.002 Objective: To investigate the effect of acidic fibroblast growth factor (aFGF) on the function of human umbilical vein endothelial cells (HUVEC) and the role that Ang1/Tie2 pathway plays in it. Methods:HUVECs were cultured and stimulated by lipopolysaccharide (LPS) and aFGF; CCK-8 assay was used to determine the stimulation concentration and the growth activity was observed. The effect of aFGF on HUVEC migration was detected by cell scratch assay. The expression levels of proliferating protein PCNA, apoptotic protein Cleaved caspase 3, Bax, and anti-apoptotic protein Bcl2; inflammation-related proteins NLRP3, IL-1β, IL-6, TNF-α, IL-4 and IL-10; angiogenesis related protein CD31 and pathway related proteins Ang1 and Tie2 were detected by Western blot assay. Fluorescence intensity of PCNA, Cleaved caspase 3, IL-6, IL-10,and CD31 were detected by immunofluorescence assay. The aorta of mice was isolated and cultured in vitro for immunofluorescence assay. Fluorescence intensity of PCNA, Cleaved caspase 3, IL-6, IL-10, and CD31 was observed. Results: CCK-8 assay showed that LPS inhibited the growth of HUVEC, with 5 μg/mL being the optimal concentration (P<0.01). aFGF promoted the growth activity of HUVEC, with 100 ng/mL the optimal concentration (P<0.01). Cell scratch test suggested that aFGF promoted cell migration. Western blot and immunofluorescence experiments showed that aFGF promoted the expression of proliferative protein and vascular functional protein, inhibited the expression of apoptotic protein and inflammatory protein, and up-regulated the Ang1/Tie2 pathway protein (P<0.05). In vitro immunofluorescence assay showed that aFGF up-regulated the fluorescence intensity of PCNA, IL-10, and CD31, and down-regulated the fluorescence intensity of Cleaved caspase 3 and IL-6 (P<0.05). Conclusion: aFGF enhances the growth activity and migration ability of HUVEC,promotes its proliferation, inhibits its apoptosis and the inflammatory response by regulating Ang1/Tie2 pathway,and promotes the repair of vascular function. 2024 Vol. 54 (7): 528-538 [Abstract] ( 166 ) HTML (1 KB)  PDF (3440 KB)  ( 432 ) 539 Lamin B2 is highly expressed in gastric cancer and regulates the immune microenvironment ZENG Wen,LIN Zhongnan, GUO Pengkun, LIN Lizhi, LIN Kezhi, CHEN Xiaodong, XUE Xiangyang DOI: 10.3969/j.issn.2095-9400.2024.07.003 Objective: To investigate the expression characteristics of lamin B2 (LMNB2) in patients with gastric cancer and its correlation with clinical prognosis and clinicopathological features, to explore the effect of LMNB2 on immune microenvironment of gastric cancer. Methods: A unified and standardized pan-cancer dataset was downloaded from UCSC database to analyze the expression of LMNB2 in 19 131 normal tissues adjacent to cancer and 60 499 tumor tissues. A total of 142 gastric cancer tissues and 28 paracancer normal tissues that underwent radical resection of gastric cancer in the First Affiliated Hospital of Wenzhou Medical University from 2014 to 2016 were collected. The differential expression of LMNB2 in 127 gastric cancer tissues and 28 paracancerous tissues was detected by immunohistochemistry. The relationship between the expression of LMNB2 and the prognosis and clinicopathological features of patients were analyzed combined with clinical information.The ESTIMATE algorithm was used to analyze the effect of LMNB2 expression level on matrix and immune cell infiltration in gastric cancer tissues. The infiltration of different immune cells in gastric cancer tissues and the correlation between tumor mutation burden (TMB), microsatellite instability (MSI), programmed cell death 1 ligand 1 (PD-L1) and LMNB2 expression levels were analyzed, and the clinical tissue samples were further verified and analyzed. Results: The expression of LMNB2 was up-regulated in gastric cancer tissues, which was associated with poor prognosis and worse TNM stage of patients. The ESTIMATE analysis showed that the expression of LMNB2 was negatively correlated with immune score (r=-0.202, P<0.001), matrix score (r=-0.272,P<0.001) and ESTIMATE score (r=-0.251, P<0.001). Analysis of the infiltration of immune cells showed that the expression of LMNB2 was significantly positively correlated with the infiltration of M1 macrophages (r=0.322,P<0.001), NK cells (r=0.423, P<0.001) and neutrophils (r=0.307, P<0.001). Furthermore, immunohistochemical analysis of tissue chips showed that the high expression group of LMNB2 had higher CD4 (P<0.05) and CD56 (P<0.05) scores, but lower CD8 (P<0.05) and CD163 (P<0.01) scores. The expression level of LMNB2 was significantly positively correlated with TMB scores (r=0.343, P<0.001) and MSI scores (r=0.221, P<0.001) in gastric cancer, and the expression of PD-L1 in the high expression group of LMNB2 was up-regulated (P<0.05).Conclusion: The up-regulated expression of LMNB2 in gastric cancer regulates the immune microenvironment in gastric cancer, which may be a potential diagnostic marker for gastric cancer and an indicator to evaluate the efficacy of immune checkpoint inhibitors in patients with gastric cancer. 2024 Vol. 54 (7): 539-546,553 [Abstract] ( 185 ) HTML (1 KB)  PDF (2927 KB)  ( 409 ) 547 The impact of Cordycepin on the survival of perforator flap and its mechanism RAN Xinyu, YAN Yao,QIU Chuanqi, SUN Yinuo, CAI Yunhao, ZHOU Zihan, XU Ke, WANG Jian DOI: 10.3969/j.issn.2095-9400.2024.07.004 Objective: To explore whether Cordycepin promotes the survival of perforator flap and its possible mechanisms. Methods: Before modeling, 20 male SD rats (6-8 weeks) were randomly divided as the control group and Cordycepin group, with 10 in each. A model of the back perforator flap was established, with the Cordycepin group receiving Cordycepin at 20 mg/kg, while the control group receiving 0.9% sodium chloride solution. The necrosis of the distal end of the flap and the blood perfusion were observed in each group 7 days after surgery, and the subcutaneous edema rate was measured by taking flap tissue from each group. The effect of cordycepin on the survival of perforator flaps and the changes in relevant tissue indicators, such as oxidative stress, cell apoptosis, and autophagy, were investigated through pathological staining, oxidative stress-related kit detection, and Western blot. Results: Each group showed necrosis of varying degrees in the distal end of the pedicle flap 7 days postoperatively. Compared with the control group, the Cordyceps group had lower rate of distal flap necrosis and subcutaneous edema, and better blood perfusion (P<0.05). HE staining and Masson results showed that the Cordyceps group had more micro-vessels in the flap, with more orderly subcutaneous structures and collagen arrangement. The results of MDA, SOD, GSH, and other assay kits showed that the Cordyceps group had decreased MDA levels (P<0.05) and increased SOD and GSH levels (P<0.05). Tunel fluorescence staining results showed fewer apoptotic cells in the Cordyceps group (P<0.05). Protein immunoblotting results showed that cordycepin could regulate the increase of oxidative stress-related protein Nrf2, the increase of HO-1 (P<0.05), the increase of the level of apoptosis-related protein Bcl-2, the decrease of the level of cleavedcaspase3 and Baxs (P<0.05), the increase of the level of autophagy-related proteins p-AMPK and LC3II, and the decrease of the level of p62 in the flap tissue. Conclusion: Cordycepin treatment promotes distal survival of perforator flaps, which may be attributed to its inhibition of oxidative stress, suppression of cell apoptosis and regulation of autophagy levels. Cordycepin is a potential therapeutic approach for preventing distal necrosis of flaps. 2024 Vol. 54 (7): 547-553 [Abstract] ( 131 ) HTML (1 KB)  PDF (2196 KB)  ( 288 ) 554 Ferroptosis of bronchial epithelial cells induced by pseudomonas aeruginosa infection and the immunomodulatory mechanism of sodium butyrate ZHOU Luan, HE Yifan, ZHAO Yimin, REN Xikai,GENG Xuan, HUANG Nan, SU Miaoshang DOI: 10.3969/j.issn.2095-9400.2024.07.005 Objective: To investigate the inductive effect of pseudomonas aeruginosa (PA) infection on ferroptosis and inflammation in human bronchial epithelial cells (BEAS-2B) and the immunomodulatory mechanism of sodium butyrate (NaB). Methods: In the in vitro BEAS-2B cell culture system, different concentrations of NaB were added to screen the safe concentration and the suitable time by CCK8 assay. Changes in the expression of acyl-CoA synthetase long-chain family member 4 (ACSL4) and phosphorylated protein kinase B (P-AKT) were detected by Western blot to determine the concentration of NaB. BEAS-2B cells infected with PA (MOI=1), and after different period of time, cell viability was measured using CCK-8 assay; changes in cell morphology were observed by inverted microscopy and mitochondrial morphology were observed by transmission electron microscopy, and intracellular Fe2+ level was detected by Fe2+ fluorescence probe. After the pretreatment with NaB, the intracellular lipid peroxidation level was detected by BODIPY 581/591 C11 fluorescence probe and changes in the expression of ACSL4, P-AKT and glutathione peroxidase 4 (GPX4) were detected by Western blot.After the pretreatment with pioglitazone (PIO), the inhibitory effect on ACSL4 was verified by Western blot, and the inflammatory factors in different groups were detected by ELISA. Results: The safe concentration of NaB for BEAS-2B cells was below 2.5 mmol/L, and with the concentration of 2.5 mmol/L treated for 36 hours, the protein levels of ACSL4 and P-AKT protein were decreased significantly (P<0.05). After PA infection, cell viability was reduced in BEAS-2B cells (P<0.05). The cell became round in shape, mitochondria were the smaller and mitochondrial crista decreased or even disappeared in the ferroptotic cells; the intracellular Fe2+ and lipid peroxidation levels were significantly increased (P<0.05) and the protein levels of ACSL4 and P-AKT were increased (P<0.05), while the protein level of GPX4 was significantly decreased (P<0.05). Compared with the PA group, the protein levels of ACSL4 and P-AKT were decreased with the pretreatment of NaB (P<0.05),which, however, promoted the decreased levels of GPX4 and the accumulation of lipid peroxides. Compared with the control group, the ELISA results showed that the levels of IL-6, IL-8, IL-1β and TNF-α were increased significantly after PA infection (P<0.05), and the level of IL-10 was slightly decreased (P<0.05). After the pretreatment with NaB or PIO, the level of proinflammatory factors was significantly decreased (P<0.05), while the level of IL-10 showed no statistical significance (P>0.05). Conclusion: PA infection leads to the accumulation of Fe2+ and lipid peroxides in bronchial epithelial cells, which induces ferroptosis and inflammation, and NaB may play an immunomodulatory role by inhibiting the pathways of ACSL4 and AKT. 2024 Vol. 54 (7): 554-562 [Abstract] ( 167 ) HTML (1 KB)  PDF (1918 KB)  ( 325 ) 563 Establishment of a prognostic risk assessment model for acute myeloid leukemia based on NK-related genes MEI Dianfeng, XIANG Dan, MAO Chenchen, ZHOU Haixia, XUE Xiangyang, ZHU Shanli DOI: 10.3969/j.issn.2095-9400.2024.07.006 Objective: To develop a novel risk scoring model for the prognosis of AML patients by examining the expression patterns of NK cell-related genes (NRGs) in acute myeloid leukemia (AML) and their association with prognosis. Methods: AML transcriptome data from TCGA database were retrieved by bioinformatics techniques. Utilizing the distinct expression patterns of NRGs, patients diagnosed with AML were categorized with unsupervised clustering methods. Subsequently, survival disparities, functional enrichment of genes, and immune-related assessments were conducted on distinct subgroups of AML patients. NRGs was utilized to develop a prognostic assessment model by employing Cox survival analysis and LASSO regression analysis focusing on the uniquely expressed genes within specific subgroups. Ultimately, bone marrow samples were collected from individuals diagnosed with acute myeloid leukemia for transcriptome sequencing in order to validate the association between various genes and AML within the context of prognostic evaluation. Results:Univariate Cox screening of NRGs related to prognosis was done, and based on their expression levels AML patients were divided into 3 subgroups. An analysis of the survival, enrichment, immunoinfiltrating cells, and immune checkpoint in subgroup 2 indicated a more favorable clinical outlook, and the immune microenvironment has been significantly remodeled. Furthermore, based on the distinctively expressed genes of the three subgroups,a risk score model was developed by Cox combined with LASSO analysis, which was significantly correlated with the clinical prognosis of AML. Transcriptome sequencing revealed that of the six AML risk genes in the risk model, the expression levels of ADGRG1, LSP1 and PDE7B were upregulated in relapsed patients, compared with remission patients, while the protective gene TBX1 revealed decreased expression levels in relapsed patients. Conclusion: The risk assessment model of AML patients constructed in this investigation represents a novel and autonomous prognostic evaluation approach, demonstrating favorable predictive capabilities. 2024 Vol. 54 (7): 563-573 [Abstract] ( 135 ) HTML (1 KB)  PDF (3308 KB)  ( 353 ) 574 Design and synthesis of near-infrared embedded conjugated oligoelectrolytes and their application in breast cancer-targeted imagining ZHU Tao, ZHAO Yingzheng DOI: 10.3969/j.issn.2095-9400.2024.07.007 Objective: To explore the application of near-infrared embedded conjugated oligoelectrolytes (COE) in the targeted imaging of breast cancer. Methods: Synthesize COE-BBT-2T and characterize the optical properties of COE-BBT-2T using UV spectrophotometer and fluorescence spectrophotometer; Cytotoxicity experiment (CCK8 experiment) was done to test the cytotoxicity of COE-BBT-2T; Prepare Lip-NK-COE; Laser particle size analyzer was used to test the particle size and potential of Lip-NK-COE; Transmission electron microscopy was used to capture the morphology of liposomes; Western blot was used to verify whether the extracted NK cell membrane was effectively embedded in liposomes, and laser confocal microscopy to verify whether Lip-NK-COE liposomes had the ability to target breast cancer cells (4T1 cells) in vitro; Animal experiments were divided into COE group, Lip-COE group and Lip-NK-COE group to detect the targeting and tumor imaging effect of Lip-NK-COE in breast cancer mice by near-infrared imaging in vivo. Results: The successfully synthesized COE-BBT-2T molecule shows near-infrared imaging performance and good biocompatibility. Lip-NK-COE was successfully prepared, the particle size being (101.7±2.1)nm, and the polydispersity index 0.224±0.040. The extracted NK cell membrane retained DNAM-1, NKG-2D cancer targeting related proteins, which was effectively embed into the liposome membrane. The targeting of Lip-NK-COE and 4T1 cells was detected to be stronger than that of Lip-COE through laser confocal microscopy, and the targeting of tumors in the Lip-NK-COE stronger than that in the Lip-COE using a near-infrared live imaging instrument.Conclusion: Lip-NK-COE can effectively target and image breast cancer. 2024 Vol. 54 (7): 574-582 [Abstract] ( 136 ) HTML (1 KB)  PDF (1845 KB)  ( 396 ) 583 Expression of NOLC1 gene in gastric cancer tissues and its effect on cisplatin resistance ZHAO Shengsheng,LU Jianhua, LI Hongzheng, SUN Weijian. DOI: 10.3969/j.issn.2095-9400.2024.07.008 Objective: To investigate the expression of NOLC1 in gastric cancer and its correlation with cisplatin resistance. Methods: The Cancer Genome Atlas (TCGA) database was used to evaluate the expression level of NOLC1, and Kaplan-Meier survival analysis was used to predict the prognostic value of NOLC1 in gastric cancer patients. The expression of NOLC1 in gastric cancer tissues was detected by immunohistochemistry.The cisplatin-resistant cells were induced by continuous addition of cisplatin at low concentration. The expression of NOLC1 in drug-resistant and sensitive cells was detected by immunofluorescence and Western blot. A stable NOLC1 knockdown gastric cancer cell line was constructed by lentivirus. Gastric cancer cells were treated with different concentrations of cisplatin for 24h. CCK-8 assay, colony formation assay, and flow cytometry were used to detect the effect of NOLC1 on cisplatin resistance of gastric cancer cells. Western blot was used to detect the expression level of apoptosis-related proteins induced by cisplatin after NOLC1 knockdown. Results: NOLC1 was highly expressed in gastric cancer tissues (P<0.05), which predicted poor prognosis (P<0.01). NOLC1 was highly expressed in cisplatin-resistant gastric cancer cell lines (P<0.01). After NOLC1 knockdown, cisplatin enhanced the killing ability and proliferation inhibition of gastric cancer cells (P<0.05), and the expression of apoptosis-related proteins such as Cl-Caspase3 and Cl-PARP was up-regulated (P<0.01).Conclusion: NOLC1 is highly expressed in gastric cancer and can promote the resistance of gastric cancer to cisplatin. 2024 Vol. 54 (7): 583-588 [Abstract] ( 174 ) HTML (1 KB)  PDF (1879 KB)  ( 323 ) 589 Nomogram prediction of overall survival in small cell lung cancer patients treated with platinum-based chemotherapy: based on pre-treatment multi-parameter YE Ruolei, SU Yanping, MAO Yanfei,ZHANG Yihong, ZHANG Ying, XU Yanyan, LUO Songmei DOI: 10.3969/j.issn.2095-9400.2024.07.009 Objective: To investigate the application value of a nomogram constructed based on pretreatment multi-parameter in predicting the overall survival (OS) of patients with small cell lung cancer (SCLC) undergoing platinum-based chemotherapy. Methods: A retrospective analysis was carried out on a cohort of 155 patients diagnosed with SCLC confirmed through pathology at the Fifth Affiliated Hospital of Wenzhou Medical University from February 2014 to February 2023. These patients received first-line chemotherapy based on platinum compounds. Telephone follow-ups were conducted to gather OS data for the included patients. Patients were randomly divided into a training set (n=111) and a validation set (n=44) at a ratio of 7:3. Prior to treatment,all patients underwent chest CT scans and various hematological examinations. The least absolute shrinkage and selection operator (LASSO) regression was utilized for feature selection among factors. Following this, univariate and multivariate Cox regression analyses were utilized to identify independent predictors predicting OS in patients with SCLC. Subsequently, a nomogram was constructed based on the identified factors. The performance and clinical value of the model were evaluated using time-dependent receiver operating characteristic (Time ROC) curve analysis, Time-dependent AUC curve, calibration curve, and decision curve analysis (DCA). The Kaplan-Meier curve was used to analyze the impact of high versus low-risk groups on patient prognosis. Results:Following LASSO screening in the training set, five features associated with prognosis of SCLC platinum-based chemotherapy were identified: gender, Veterans’ Administration Lung Study Group (VALSG) staging, platinum sensitivity, cytokeratin 19 fragment (Cyfra21-1), and platelet count. These features were determined through univariate and multivariate Cox regression analyses to be independent predictors for predicting OS in SCLC patients undergoing platinum-based chemotherapy (P<0.05). The constructed nomogram prediction model demonstrated AUC values for predicting 6, 12, and 18-month OS in the training set and validation set as follows: 0.90(0.82-0.97), 0.84 (0.73-0.91), 0.88 (0.83-0.92) and 0.80 (0.66-0.94), 0.82 (0.69-0.96), 0.86 (0.72-0.95) respectively.The calibration curve indicated good consistency between actual values and model-predicted probabilities, while DCA curves indicated a high clinical utility of the model. The Kaplan-Meier curves for the training and validation groups both demonstrated an association between patients in the high-risk group and shorter overall survival (P<0.001). Conclusion: The nomogram constructed based on pre-treatment multi-parameter can offer valuable guidance in predicting OS for SCLC patients undergoing platinum-based chemotherapy. 2024 Vol. 54 (7): 589-597 [Abstract] ( 167 ) HTML (1 KB)  PDF (1819 KB)  ( 282 ) 598 A single case gene mutation analysis of hypodysfibrinogenaemia associated with heterozygous mutation in fibrinogen α Chain (IVS2+1G>T) WANG Haijian, ZHENG Shuang, YU Xiaomin, WU Kaiwen, ZHAO Misheng, ZHU Liqing DOI: 10.3969/j.issn.2095-9400.2024.07.010 Objective: To investigate the molecular pathogenesis of hypodysfibrinogenaemia in a clinically discovered proband. Methods: A male proband who was admitted to the Wenzhou People’s Hospital on February 17, 2023 due to “right hydronephrosis and abnormal preoperative coagulation function” was selected as the study subject. The exons and flanking sequences of FGA, FGB, and FGG were PCR amplified to identify mutation sites through forward and reverse sequencing. Fibrinogen was purified from plasma using saturated ammonium sulfate for analysis of fibrinogen aggregation rate, coagulation rate, and SDS-PAGE. Wild and mutant pcDNA3.1-minigene vectors containing exons 1 to 4 sequences were constructed and transfected into HEK293T cells. Total mRNA was extracted using trizol and mutations on splice-site were confirmed using RT-PCR, Nest PCR, and q-PCR. Results: The proband exhibited a heterozygous splice-site mutation (IVS2+1G>T/c.180+1G>T) in FGA intron 2, which led to a significant decrease in the maximum rate of fibrinogen aggregation (t=443.069, P<0.001),the difference in absorbance value (t=112.317, P<0.001), and the coagulation rate (t=65.147, P<0.001) of the proband.SDS-PAGE analysis revealed the presence of FGA fibrin mutant chains in plasma. Following the construction of the minigene vector and transient transfection into HEK293T cells, RT-PCR, Nested PCR, and q-PCR analyses revealed that the mutation would disrupt the normal splicing of FGA gene mRNA. This disruption led to the deletion of 126 base pairs from the FGA exon 2 sequence during translation. Conclusion: Following the mutation rating guidelines of the American College of Medical Genetics and Genomics (ACMG) and considering the combination of supporting evidence (PVS1+PS3+PP4), the FGA IVS2+1G>T mutation variant was classified as a pathogenic mutation. The FGA IVS2+1G>T mutation is responsible for hypodysfibrinogenaemia, causing abnormal release of FGA into the blood with a deletion of 42 amino acids. However, it does not impact the assembly and secretion of fibrinogen. 2024 Vol. 54 (7): 598-602, 封三 [Abstract] ( 172 ) HTML (1 KB)  PDF (1853 KB)  ( 457 )

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