1.Xuefu Zhuyutang in Malignant Tumor Disease: A Review
Jiaqi JI ; Xiaoqing HU ; Yihan ZHAO ; Xuhang SUN ; Dandan WEI ; Junwen PEI ; Shiqing JIANG
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(3):321-330
Cancer has become a significant global public health issue, severely impacting public health and societal development. Despite advances in tumor treatment methods in recent years and a gradual decline in cancer mortality rates, drug-related adverse reactions and drug resistance remain substantial challenges. Traditional Chinese medicine (TCM) has demonstrated significant clinical efficacy in cancer treatment and small side effects, making it widely applied in the field of oncology. Xuefu Zhuyutang, derived from Yilin Gaicuo, is known for its abilities to invigorate blood circulation, dispel blood stasis, promote Qi flow, and alleviate pain. It was specifically formulated by the esteemed WANG Qingren of the Qing dynasty for the "blood stasis syndrome in the blood mansion" and is commonly used to treat Qi stagnation and blood stasis syndrome. Clinical studies have shown that Xuefu Zhuyutang, when combined with conventional Western medications, produces significant effects in the treatment of malignant tumors such as liver cancer, lung cancer, and cervical cancer. It substantially reduces the incidence of adverse reactions following Western treatments, including radiation esophagitis, radiation encephalopathy, radiation-induced oral mucositis, and edema. Additionally, it alleviates cancer-related pain and fever, blood hypercoagulability, and associated complications such as depression and anxiety, and also mitigates chemotherapy-induced side effects like hand-foot syndrome. Basic research has demonstrated its potential anti-tumor mechanisms, including the inhibition of Wnt/β-catenin signaling pathway activation, suppression of mitogen-activated protein kinase (MAPK) pathway activation, and anti-tumor angiogenesis. Pharmacological studies have revealed that its active components inhibit tumor cell proliferation and migration, induce tumor cell apoptosis, suppress tumor angiogenesis, enhance the cytotoxicity of natural killer cells against tumors, improve the tumor microenvironment, and regulate immune function. This paper reviewed the latest research progress on Xuefu Zhuyutang in the treatment of malignant tumors from four aspects: theoretical exploration, clinical studies, mechanisms of action, and pharmacological basis, aiming to provide insights and methods for the clinical diagnosis and treatment of malignant tumors.
2.Establishment and Multidimensional Pathological Evaluations of a Cigarette Smoke Exposure-Induced Chronic Obstructive Pulmonary Disease Mouse Model
Jiaqi HE ; Yuanyuan ZHOU ; Yongqiang NIE ; Zhaoxia WANG ; Wangjie XU
Laboratory Animal and Comparative Medicine 2026;46(1):11-19
ObjectiveTo establish a reliable chronic obstructive pulmonary disease (COPD) mouse model based on a self-developed multichannel automatic control system for long-term continuous cigarette smoke exposure in small animals using a novel continuous cigarette smoke exposure method, and to conduct phenotypic evaluation and analysis, thereby providing an animal experimental basis for investigating COPD pathogenesis and prevention strategies. MethodsTwenty male C57BL/6J mice aged 6 weeks were randomly and equally divided into a control group and a model group. The model group (n=10) underwent 6 h of continuous cigarette smoke exposure daily (6 cigarettes per day for 12 consecutive weeks), while the control group (n=10) received no intervention. Body weight was monitored biweekly. Post-exposure, in vivo micro-CT imaging was performed. After euthanasia, serum and bronchoalveolar lavage fluid (BALF) levels of interleukin-6 (IL-6) and tumor necrosis factor-α (TNF-α) were quantified by ELISA. Lung tissues underwent H&E and Masson's trichrome staining to observe changes in lung morphology and inflammatory cell infiltration, and the mean linear intercept (MLI) was calculated, thereby comprehensively evaluating the clinical features of COPD in the mouse model. ResultsCompared with the control group, the model group showed significantly reduced body weight (P<0.01) from the fourth week. Compared with the control group, IL-6 level in the serum and BALF of the model group increased by 27.2% and 140.0%, respectively (P<0.01). TNF-α level in the serum and bronchoalveolar lavage fluid of the model group increased by 16.7% (P<0.01) and 19.3% (P<0.05), respectively. Histopathological examination revealed alveolar wall thinning, septal rupture, emphysematous bullae formation, reduced alveolar count, bronchial wall thickening with lumen narrowing, and inflammatory cell infiltration. MLI was significantly elevated (P<0.01). Masson's staining confirmed collagen deposition and bronchial remodeling. Micro-CT demonstrated localized high-density shadows exhibiting typical features of chronic bronchitis. Conclusion The self-developed device enables long-term continuous smoke exposure, and the successfully established COPD mouse model exhibits pathological features highly consistent with clinical manifestations, offering an efficient and reliable tool for COPD research.
3.Influencing Factors of Urate Crystal Deposition in Patients with Hyperuricemia and Prediction Model of TCM Syndrome Types-inflammatory Indicators
Jiaqi XU ; Bin AI ; Chao LIN ; Qiaoxuan LIN ; Changning LI ; Jing CAI ; Yan XIAO ; Jiemei GUO ; Youxin SU
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(7):66-73
ObjectiveTo identify potential influencing factors of urate crystal deposition at ankle/foot in patients with hyperuricemia (HUA), and to analyze the predictive value of inflammatory indicators for urate crystal deposition in patients with different traditional Chinese medicine (TCM) syndromes, so as to provide potential reference for clinical risk assessment and individualized TCM intervention. MethodsA retrospective study was carried out with the enrollment of 231 HUA patients from The Third Affiliated People's Hospital of Fujian University of Traditional Chinese Medicine between January 2021 and December 2024. The enrolled patients were further divided into a crystal deposition-positive group (143 cases) and a crystal deposition-negative group (88 cases) according to the results of dual-energy computed tomography (CT). Sociodemographic data, living habits, serum uric acid levels, and inflammatory indicators of the enrolled patients were collcted, and TCM syndrome differentiation was performed. Furthermore, univariate analysis was used to compare inter-group differences in clinical characteristics. MMultivariate Logistic regression was applied to identify the influencing factors of urate crystal deposition. In addition, the receiver operating characteristic (ROC) curves were plotted to evaluate the predictive efficacy of inflammatory indicators for crystal deposition across different TCM syndromes. ResultsThere were statistically significant inter-group differences in the proportion of males, age, body mass index, proportion of mental labor, rate of low water intake, and rate of high-sugar beverage consumption (P<0.05),whereas no significant difference in low exercise intensity was found between the two groups. Furthermore, compared with the negative group, the positive group had higher serum uric acid level, neutrophil-to-lymphocyte ratio (NLR), and platelet-to-lymphocyte ratio (PLR), but lower systemic immune-inflammation index (SIRI) (P<0.05). Regarding the distribution of TCM syndromes, the positive group was dominated by the dampness-heat accumulation syndrome (55/143,38.46%), while the negative group was mainly characterized by the phlegm-turbidity obstruction syndrome (44/88,50.00%). Multivariate Logistic regression analysis revealed that high-sugar beverage consumption, elevated NLR, and elevated PLR were risk factors for urate crystal deposition [odd ratio (OR) = 8.002, 5.377, 1.034, respectively; 95% CI 1.572-40.732, 2.179-13.270, 1.013-1.054,all P<0.05], while SIRI was a protective factor (OR = 0.869, 95% CI 0.778-0.971, P<0.05). In the positive group, patients with the dampness-heat accumulation syndrome exhibited the highest NLR, while the lowest PLR and SIRI, showing statistically significant differences with those of other syndromes (all P<0.05). In addition, ROC curve analysis indicated that for the dampness-heat accumulation syndrome, the combined "NLR + PLR" model had an area under the curve (AUC) of 0.901 (95% CI 0.850-0.951, P<0.01), with a sensitivity of 89.1% and a specificity of 79.5%; for the blood stasis-heat obstruction syndrome, the combined "NLR + PLR" model had an AUC of 0.880 (95% CI 0.825-0.934, P<0.01), with a sensitivity of 100.0% and a specificity of 67.3%; for the liver-kidney Yin-deficiency syndrome, the single PLR model had an AUC of 0.842 (95% CI 0.731-0.952, P<0.01), with a sensitivity of 83.3% and a specificity of 84.0%. ConclusionUrate crystal deposition in HUA patients exhibits intimate associations with high-sugar beverage consumption as well as elevated NLR and PLR levels. Meanwhile, TCM syndrome differentiation has potential correlation with inflammatory characteristics. The inflammatory indicator-based prediction model constructed based on TCM syndromes exhibits good predictive value.
4.LINC00657 Promotes Malignant Progression of Cervical Cancer by Sponging miR-30a-5p to Regulate Skp2 Expression
Changhui ZHOU ; Jingqin REN ; Zhen CHEN ; Qi YAN ; Nan YANG ; Jiaqi ZHAO ; Rong LI
Cancer Research on Prevention and Treatment 2026;53(2):103-111
Objective To investigate the role and regulatory mechanism of LINC00657 in the progression of cervical cancer. Methods Bioinformatics analysis predicted potential binding sites between LINC00657 and miR-30a-5p and between miR-30a-5p and Skp2. These sites were verified by using RNA immunoprecipitation and dual-luciferase reporter experiments. LINC00657, miR-30a-5p, and Skp2 mRNA expression levels in cervical cancer tissues and cell lines were assessed by utilizing RT-qPCR. Western blot analysis was employed to examine the protein levels of Skp2 in cells and subcutaneous xenograft tumor models in nude mice. Immunohistochemistry was applied to analyze Skp2 expression in animal tissues. The cellular processes of cervical cancer cell lines were evaluated through CCK-8, scratch, and Transwell assays. Results LINC00657 and Skp2 presented binding sites for miR-30a-5p. In cervical cancer, LINC00657 and Skp2 showed high expression levels (P<0.05), whereas miR-30a-5p displayed low expression (P<0.05). Functional experiments demonstrated that linc00657 upregulates Skp2 expression, a process that is dependent on its sequestration of miR-30a-5p. Conclusion LINC00657 promoted the malignant progression of cervical cancer by upregulating Skp2 expression through specifically sequestering miR-30a-5p, thereby relieving its inhibitory effect on the target gene Skp2.
5.Analysis of thermal environment and students thermal comfort in primary and secondary school classrooms in winter
Chinese Journal of School Health 2026;47(2):168-172
Objective:
To evaluate the current situation of thermal environment in primary and secondary school classrooms during winter, and to analyze students thermal comfort needs, so as to provide a basis for improving classroom thermal environment.
Methods:
From December 16 to 26, 2024, a stratified cluster random sampling method was used to select 90 classrooms from 15 primary and secondary schools in centralized/air conditioned heating areas(Liaoning Province, Tianjin City, Shanghai City) and naturally ventilated areas(Anhui Province and Jiangxi Province)for on site environmental measurement. A questionnaire survey was conducted among 743 students. The differences between groups using the χ 2 test were compared. Based on actual measurement data, a predicted mean vote prepared percentage of dissatisfied (PMV-PPD) model for centralized/air conditioned classrooms and an adaptive model for naturally ventilated classrooms were established, and the thermal neutral temperature and comfort interval were calculated.
Results:
The average outdoor temperature during on site measurement was 4.00(0.20,7.00)℃. In classrooms with centralized or air conditioned heating systems, the measured average temperature was (19.33±2.59)℃, with a thermal comfort range of 20.35-25.35 ℃ and a thermal neutral temperature of 22.85 ℃. And 13.92% of students reported feeling cold, while 80.80% felt comfortable. In classrooms with natural ventilation, the measured average temperature was (12.26±1.83)℃, with a thermal neutral temperature of 19.67 ℃ and a thermal comfort range of 16.17-23.17 ℃. About 48.33% of students reported feeling cold, and 49.81 % felt comfortable.The results of univariate analysis showed that there were statistically significant differences in shoe thickness, temperature sensation, relative humidity sensation and wind speed sensation between centralized/air conditioned heating areas ( χ 2= 7.01 , 31.47, 13.57, 13.80,all P <0.05). There were also statistically significant differences in school stage for primary and secondary school students, body mass index, classroom location for seat, temperature sensation, relative humidity sensation and wind speed sensation between naturally ventilated areas ( χ 2=42.13, 11.13, 11.04, 60.39, 29.27, 38.46,all P <0.05).
Conclusions
There are differences in thermal environment and students subjective thermal comfort in primary and secondary schools under different ventilation modes in winter. The temperature standards for heated classrooms should be revised, and differentiated environmental regulation strategies should be adopted based on different ventilation methods to improve students health and comfort levels.
6.Clinical Efficacy and Mechanisms of Qigui Didang Decoction in Treatment of Stage Ⅲ-Ⅳ Diabetic Kidney Disease with Kidney Collateral Stasis Syndrome in Real World
Yingchao WANG ; Jiaqi WANG ; Zongjiang ZHAO ; Hua ZHANG ; Jiannan ZHOU ; Jiangteng LIU ; Zhichao RUAN ; Weijun HUANG ; Jinxi ZHAO
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(10):162-169
ObjectiveTo investigate the clinical efficacy and mechanisms of Qigui Didang decoction in the treatment of kidney collateral stasis syndrome in patients with stage Ⅲ-Ⅳ diabetic kidney disease (DKD) in a real-world setting. MethodsPatients with stage Ⅲ-Ⅳ DKD with kidney collateral stasis syndrome admitted to Beijing Aerospace General Hospital from January 2022 to December 2024 were selected for clinical study. According to treatment methods, patients were divided into the Qigui Didang decoction group (Qigui Didang decoction + conventional treatment) and the control group (conventional treatment alone). A 1∶1 propensity score matching (PSM) method was used to reduce bias caused by confounding factors. Clinical efficacy, traditional Chinese medicine (TCM) symptom scores, renal function indicators, mRNA expression related to pathway mechanisms, glycolipid metabolism indices, and adverse reactions were compared between the two groups. ResultsA total of 120 patients with stage Ⅲ-Ⅳ DKD with kidney collateral stasis syndrome were included, including 62 cases in the Qigui Didang Decoction group and 58 cases in the control group. Before matching, there were statistically significant differences between the two groups in DKD stage, baseline urinary albumin-to-creatinine ratio (UACR), 24-hour urine total protein (24 h-UTP), and estimated glomerular filtration rate (eGFR) (P<0.05). After matching, 47 cases were included in each group, and there was no statistically significant difference in baseline data between the two groups. After matching, the total clinical effective rate of the Qigui Didang decoction group was significantly higher than that of the control group (χ2=4.681, P<0.05). Compared with data before treatment, the scores of primary and secondary TCM symptoms in the Qigui Didang decoction group were significantly decreased (P<0.05). Compared with data before treatment, serum creatinine (SCr), 24 h-UTP, and UACR levels were significantly decreased, while eGFR was significantly increased in the Qigui Didang decoction group (P<0.05). Compared with data before treatment, the mRNA expression of silent information regulator 1 (Sirt1) was significantly upregulated, while the mRNA expression of nuclear factor-kappa B (NF-κB) and tumor suppressor protein p53 (p53) was significantly downregulated in the Qigui Didang decoction group (P<0.05). Compared with data before treatment, fasting plasma glucose (FPG), 2-hour postprandial plasma glucose (2 hPG), glycated hemoglobin A1c (HbA1c), total cholesterol (TC), triglycerides (TG), and low-density lipoprotein cholesterol (LDL-C) levels were decreased, while high-density lipoprotein cholesterol (HDL-C) levels were increased (P<0.05). There was no statistically significant difference in adverse reactions between the two groups. ConclusionQigui Didang decoction combined with conventional treatment can significantly improve renal function, glycolipid metabolism, and TCM syndromes in patients with stage Ⅲ-Ⅳ DKD with kidney collateral stasis syndrome, with good safety. The mechanism may be related to the regulation of the Sirt1/NF-κB/p53 signaling pathway.
7.Clinical Efficacy and Mechanisms of Qigui Didang Decoction in Treatment of Stage Ⅲ-Ⅳ Diabetic Kidney Disease with Kidney Collateral Stasis Syndrome in Real World
Yingchao WANG ; Jiaqi WANG ; Zongjiang ZHAO ; Hua ZHANG ; Jiannan ZHOU ; Jiangteng LIU ; Zhichao RUAN ; Weijun HUANG ; Jinxi ZHAO
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(10):162-169
ObjectiveTo investigate the clinical efficacy and mechanisms of Qigui Didang decoction in the treatment of kidney collateral stasis syndrome in patients with stage Ⅲ-Ⅳ diabetic kidney disease (DKD) in a real-world setting. MethodsPatients with stage Ⅲ-Ⅳ DKD with kidney collateral stasis syndrome admitted to Beijing Aerospace General Hospital from January 2022 to December 2024 were selected for clinical study. According to treatment methods, patients were divided into the Qigui Didang decoction group (Qigui Didang decoction + conventional treatment) and the control group (conventional treatment alone). A 1∶1 propensity score matching (PSM) method was used to reduce bias caused by confounding factors. Clinical efficacy, traditional Chinese medicine (TCM) symptom scores, renal function indicators, mRNA expression related to pathway mechanisms, glycolipid metabolism indices, and adverse reactions were compared between the two groups. ResultsA total of 120 patients with stage Ⅲ-Ⅳ DKD with kidney collateral stasis syndrome were included, including 62 cases in the Qigui Didang Decoction group and 58 cases in the control group. Before matching, there were statistically significant differences between the two groups in DKD stage, baseline urinary albumin-to-creatinine ratio (UACR), 24-hour urine total protein (24 h-UTP), and estimated glomerular filtration rate (eGFR) (P<0.05). After matching, 47 cases were included in each group, and there was no statistically significant difference in baseline data between the two groups. After matching, the total clinical effective rate of the Qigui Didang decoction group was significantly higher than that of the control group (χ2=4.681, P<0.05). Compared with data before treatment, the scores of primary and secondary TCM symptoms in the Qigui Didang decoction group were significantly decreased (P<0.05). Compared with data before treatment, serum creatinine (SCr), 24 h-UTP, and UACR levels were significantly decreased, while eGFR was significantly increased in the Qigui Didang decoction group (P<0.05). Compared with data before treatment, the mRNA expression of silent information regulator 1 (Sirt1) was significantly upregulated, while the mRNA expression of nuclear factor-kappa B (NF-κB) and tumor suppressor protein p53 (p53) was significantly downregulated in the Qigui Didang decoction group (P<0.05). Compared with data before treatment, fasting plasma glucose (FPG), 2-hour postprandial plasma glucose (2 hPG), glycated hemoglobin A1c (HbA1c), total cholesterol (TC), triglycerides (TG), and low-density lipoprotein cholesterol (LDL-C) levels were decreased, while high-density lipoprotein cholesterol (HDL-C) levels were increased (P<0.05). There was no statistically significant difference in adverse reactions between the two groups. ConclusionQigui Didang decoction combined with conventional treatment can significantly improve renal function, glycolipid metabolism, and TCM syndromes in patients with stage Ⅲ-Ⅳ DKD with kidney collateral stasis syndrome, with good safety. The mechanism may be related to the regulation of the Sirt1/NF-κB/p53 signaling pathway.
8.Research progress on the mechanism of action and clinical application of Shenqi dihuang decoction in the treatment of diabetic nephropathy
Jiajie LI ; Jiaqi WANG ; Jie ZHAO ; Zezhu LI ; Yaping WANG ; Guirong ZHANG ; Heguo YAN ; Jiabao LIAO ; Weibo WEN
China Pharmacy 2026;37(8):1085-1091
Diabetic nephropathy(DN) is a common and severe microvascular complication of diabetes. In recent years, the classical herbal formula Shenqi dihuang decoction has demonstrated unique advantages in the clinical treatment of DN. This article conducts a systematic review of the mechanisms of action and clinical applications of Shenqi dihuang decoction in the treatment of DN. It reveals that the mechanism by which this formula improves DN involves multi-target synergistic regulation. For instance, Shenqi dihuang decoction exerts multiple pharmacological effects by regulating signaling pathways including phosphatidy linostiol 3-kinase/protein kinase B, AMP-activated protein kinase/silent information regulator 1/forkhead box O1, and nuclear factor erythroid 2-related factor 2/heme oxygenase-1 pathways.These effects include regulating glucose and lipid metabolism, inhibiting oxidative stress, reducing inflammation, improving insulin resistance, modulating cell death (apoptosis/autophagy/ferroptosis/pyroptosis), and preventing renal fibrosis. Existing clinical studies indicate that Shenqi dihuang decoction and its modified formulas, alone or in combination with other therapeutic methods, can significantly improve glucose and lipid metabolism, reduce proteinuria, and delay renal function decline in patients with DN. These effects are superior to those of Western medicines such as irbesartan, valsartan, and empagliflozin, and the treatment demonstrates good safety. Future research should leverage systems biology and artificial intelligence technologies to further elucidate the integrated mechanisms in the treatment of DN by Shenqi dihuang decoction, thereby advancing the precision and standardization of its clinical application.
9.The role of magnetocardiography in the diagnosis and efficacy assessment of coronary microvascular dysfunction
Jiaqi MA ; Danbo LU ; Zhangwei CHEN ; Ao CHEN ; Congcong PAN ; Juying QIAN ; Jianying MA
Chinese Journal of Clinical Medicine 2026;33(1):31-37
Objective To explore the non-invasive diagnostic criteria of magnetocardiography (MCG) for coronary microvascular dysfunction (CMVD), and its value in dynamically assessing drug treatment for CMVD. Methods Patients who presented with chest tightness or chest pain at Zhongshan Hospital, Fudan University from September 2024 to March 2025 were consecutively enrolled, and all of whom had non-obstructive coronary arteries on angiography. Using the coronary angiography-derived index of microcirculatory resistance (caIMR) as the gold standard, patients were divided into a normal microcirculation group (caIMR≤40 U) and a CMVD group (caIMR>40 U). MCG testing was performed using a domestic device (MD-U041001, Mind Medical). Patients in the CMVD group received adenosine treatment and underwent repeat MCG after medication. Differences in MCG parameters between the two groups were analyzed, and a diagnostic model was established. The value of the diagnostic model was analyzed using receiver operating characteristic (ROC) curves. Results A total of 311 patients were included, with 135 in the normal microcirculation group and 176 in the CMVD group. The CMVD group had a significantly higher proportion of males (61.9% vs 47.4%, P=0.012), and lower high-density lipoprotein cholesterol (HDL-C) levels ([1.16±0.31] mmol/L vs [1.24±0.29] mmol/L, P=0.029) than the normal group. Eleven MCG parameters showed significant differences between the two groups (P<0.05), among which increased values of mfm_QR_epav, mfm_RS_epmse, space_zeroRTrot, as well as decreased value of mfm_QR_v1 were independent predictors of CMVD. The diagnostic model based on these 11 MCG parameters yielded an area under the curve (AUC) of 0.688 (95%CI 0.629-0.747). The integrated diagnostic model combining clinical risk factors (male, smoking history, HDL-C) with MCG parameters had an AUC of 0.701 (95%CI 0.643-0.759). After adenosine treatment, patients in the CMVD group showed significant decreases in mfm_QR_epav (P=0.010), mfm_RS_sad (P=0.013), and mfm_RS_epmse (P=0.046). Conclusions The model based on MCG parameters demonstrates good diagnostic ability for CMVD; dynamic changes in MCG parameters following adenosine intervention may serve as potential objective indicators for evaluating microcirculatory treatment efficacy.
10.Clinical features and molecular mechanism of infantile cholestasis caused by IFT122 gene variants
Jiaqi LI ; Yan LI ; Ruida HE ; Jiayan FENG ; Jianshe WANG
Chinese Journal of Pediatrics 2026;64(1):99-105
Objective:To investigate the clinical characteristics of infantile cholestasis caused by IFT122 gene variants and the molecular mechanism underlying its impact on primary cilia.Methods:The clinical data of an infant with cholestasis from the Children′s Hospital of Fudan University in September 2022 were retrospectively analyzed. The whole-exome sequencing was performed to identify candidate variants, which were validated by Sanger sequencing in the family. Immortalized cell lines were generated using lentiviral infection, followed by immunofluorescence staining to assess the impact of the variants on primary cilia. Intergroup comparisons were performed using the independent sample t-test and Mann-Whitney U test .Results:The proband was a 4-month-old male infant presenting with jaundice, distinctive facial features, and sagittal craniosynostosis. Blood biochemistry indicated elevated direct bilirubin, total bile acids, and transaminases, with markedly increased γ-glutamyltransferase (GGT). Liver pathology demonstrated giant cell hepatitis with cholestasis and bile duct dysplasia. Genetic analysis identified compound heterozygous variants in IFT122 (NM_052989.3) gene c.88G>C (p.Ala30Pro) and c.240G>C (p.Trp80Cys), which co-segregated with the disease in the family. Immunofluorescence analysis demonstrated that the IFT122 gene compound heterozygous missense variants not only significantly reduced the proportion of cilia-positive cells but also led to aberrant ciliary localization of ADP-ribosylation factor-like protein 13B (ARL13B).In addition, ciliary deposition with phosphatidylinositol polyphosphate 5-phosphatase type Ⅳ (INPP5E) was reduced. All differences were statistically significant (all P<0.05). Conclusion:The compound heterozygous missense variants in IFT122 gene not only impair ciliogenesis but also disrupt the ciliary localization of ARL13B and INPP5E, ultimately resulting in high-GGT infantile cholestasis.


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