Identification and characterization of novel genetic variants in the first Chinese family of mucopolysaccharidosis IIIC (Sanfilippo C syndrome)
In this study, we utilized whole-exome sequencing (WES) to identify novel compound heterozygous variants in the HGSNAT gene from a Chinese patient with typical MPS IIIC symptoms: c.743G>A; p.Gly248Glu and c.1030C>T; p.Arg344Cys. We performed in silico analysis and experimental validation, which confirmed the deleterious pathogenic nature of both variants, as evidenced by the loss of HGSNAT activity and failure of lysosomal localization. To the best of our knowledge, the MPS IIIC is first confirmed by clinical, biochemical and molecular genetic findings in China. Our study thus expands the spectrum of MPS IIIC pathoge...
Source: J Cell Mol Med - April 13, 2024 Category: Molecular Biology Authors: Hongjun Zhao Lijing Wang Mengfei Zhang Huakun Wang Sizhe Zhang Junjiao Wu Yu Tang Source Type: research

Comprehensive analysis of the interaction of antigen presentation during anti-tumour immunity and establishment of AIDPS systems in ovarian cancer
J Cell Mol Med. 2024 Apr;28(8):e18309. doi: 10.1111/jcmm.18309.ABSTRACTThere are hundreds of prognostic models for ovarian cancer. These genes are based on different gene classes, and there are many ways to construct the models. Therefore, this paper aims to build the most stable prognostic evaluation system known to date through 101 machine learning strategies. We combined 101 algorithm combinations with 10 machine learning algorithms to create antigen presentation-associated genetic markers (AIDPS) with outstanding precision and steady performance. The inclusive set of algorithms comprises the elastic network (Enet), Rid...
Source: J Cell Mol Med - April 13, 2024 Category: Molecular Biology Authors: Wenhuizi Sun Ping Xu Kefei Gao Wenqin Lian Xiang Sun Source Type: research

Integrated analysis highlights the significance role of ITGAL in lung adenocarcinoma
In this study, we utilized the TCGA dataset to analyse ITGAL mRNA expression in LUAD and examined its correlation with clinical prognosis. Three-dimensional (3D) Matrigel culture, 5-bromodeoxyuridine (BrdU) ELISA, wound-healing migration and cell adherence assays were used to demonstrate the potential role of ITGAL in LUAD progression. Additionally, we analysed single-cell sequencing data of LUAD to determine the expression and biological function of ITGAL. Our research revealed that the expression of ITGAL in LUAD samples is an independent predictor of prognosis. Patients with high expression of ITGAL had significantly be...
Source: J Cell Mol Med - April 13, 2024 Category: Molecular Biology Authors: Zengtuan Xiao Zhe Nian Mengzhe Zhang Zuo Liu Zhe Liu Zhenfa Zhang Source Type: research

Pathway-based stratification of gliomas uncovers four subtypes with different TME characteristics and prognosis
This study aimed to develop a reliable molecular stratification based on these key components of TME. The TCGA data set (training cohort) and two independent cohorts from CGGA database (validation cohort) were enrolled in this study. First, the enrichment score of 277 TME-related signalling pathways was calculated by gene set variation analysis (GSVA). Then, consensus clustering identified four stable and reproducible subtypes (AFM, CSS, HIS and GLU) based on TME-related signalling pathways, which were characterized by differences in hypoxia and immune responses, metabolism status, somatic alterations and clinical outcomes...
Source: J Cell Mol Med - April 13, 2024 Category: Molecular Biology Authors: Ruoyu Huang Bo Han Ying Zhang Jingchen Yang Kuanyu Wang Xing Liu Zhiliang Wang Source Type: research

The Hippo signalling pathway and its impact on eye diseases
This article provides the first systematic review of studies on the regulatory and functional roles of mammalian Hippo signalling systems in eye diseases. More comprehensive studies on this pathway are required for a better understanding of the pathophysiology of eye diseases and the development of effective therapies.PMID:38613348 | PMC:PMC11015399 | DOI:10.1111/jcmm.18300 (Source: J Cell Mol Med)
Source: J Cell Mol Med - April 13, 2024 Category: Molecular Biology Authors: Yuxiang Du Source Type: research

The role of autophagy in odontogenesis, dental implant surgery, periapical and periodontal diseases
This study reviews autophagy's dento-alveolar effects, focusing on its role in odontogenesis, periapical diseases, periodontal diseases and dental implant surgery, providing valuable insights for dentists on tooth development and dental applications. A thorough examination of autophagy has the potential to discover novel and efficacious treatment targets within the field of dentistry.PMID:38613351 | PMC:PMC11015398 | DOI:10.1111/jcmm.18297 (Source: J Cell Mol Med)
Source: J Cell Mol Med - April 13, 2024 Category: Molecular Biology Authors: Sevin ç İnan Emre Bar ış Source Type: research

Integrated analyses for identification of a three-gene signature associated with Chaihu Shugan San formula for hepatocellular carcinoma treatment
In conclusion, CSS may regulate the activity of immune-related factors in the tumour microenvironment, reverse immune escape, enhance immune responses through AKT1, MAPK3, and CASP3, and synergistically alleviate HCC. The co-administration of sorafenib with CSS has a strong clinical outlook against HCC.PMID:38613352 | PMC:PMC11015397 | DOI:10.1111/jcmm.18211 (Source: J Cell Mol Med)
Source: J Cell Mol Med - April 13, 2024 Category: Molecular Biology Authors: Jia-Heng Xing Ru-Xue Tan Fei-Er Huang Nan Tian Source Type: research

Pyrroloquinoline quinone ameliorates PM2.5-induced pulmonary fibrosis through targeting epithelial-mesenchymal transition
J Cell Mol Med. 2024 Apr;28(8):e18299. doi: 10.1111/jcmm.18299.ABSTRACTPulmonary fibrosis is a lung disorder affecting the lungs that involves the overexpressed extracellular matrix, scarring and stiffening of tissue. The repair of lung tissue after injury relies heavily on Type II alveolar epithelial cells (AEII), and repeated damage to these cells is a crucial factor in the development of pulmonary fibrosis. Studies have demonstrated that chronic exposure to PM2.5, a form of air pollution, leads to an increase in the incidence and severity of pulmonary fibrosis by stimulation of epithelial-mesenchymal transition (EMT) in...
Source: J Cell Mol Med - April 13, 2024 Category: Molecular Biology Authors: Chia-Chia Chao Sheng-Yen Hsiao Wan-Chen Kao Pei-Chen Chiou Chieh-Chen Huang Mei-Ting Wang Po-Chun Chen Source Type: research

A 78-year-old woman with diffuse white matter infiltration and predominant involvement of bilateral temporo-parieto-occipital regions
J Cell Mol Med. 2024 Apr;28(8):e18245. doi: 10.1111/jcmm.18245.ABSTRACTDiffuse paediatric-type high-grade glioma, H3-wildtype and IDH-wildtype (H3/IDH-wt-pHGG) is a newly defined entity amongst brain tumours, primarily reported in children. It is a rare, ill-defined type of tumour and the only method to diagnose it is DNA methylation profiling. The case we report here carries new knowledge about this tumour which may, in fact, occur in elderly patients, be devoid of evocative genomic abnormalities reported in children and harbour a misleading mutation.PMID:38613356 | PMC:PMC11015387 | DOI:10.1111/jcmm.18245 (Source: J Cell Mol Med)
Source: J Cell Mol Med - April 13, 2024 Category: Molecular Biology Authors: Charlotte Paoli Anne Mc Leer Julien Boyer Lydiane Mondot B érengère Dadone-Montaudié Catherine Godfraind Fanny Burel-Vandenbos Source Type: research

Deferoxamine topical cream superior to patch in rescuing radiation-induced fibrosis of unwounded and wounded skin
J Cell Mol Med. 2024 Apr;28(8):e18306. doi: 10.1111/jcmm.18306.ABSTRACTTopical patch delivery of deferoxamine (DFO) has been studied as a treatment for this fibrotic transformation in irradiated tissue. Efficacy of a novel cream formulation of DFO was studied as a RIF therapeutic in unwounded and excisionally wounded irradiated skin. C57BL/6J mice underwent 30 Gy of radiation to the dorsum followed by 4 weeks of recovery. In a first experiment, mice were separated into six conditions: DFO 50 mg cream (D50), DFO 100 mg cream (D100), soluble DFO injections (DI), DFO 1 mg patch (DP), control cream (Vehicle), and irradiated un...
Source: J Cell Mol Med - April 13, 2024 Category: Molecular Biology Authors: Charlotte E Berry Darren B Abbas Michelle Griffin Hendrik Lintel Jason Guo Lionel Kameni Andrew A Churukian Alexander Z Fazilat Kellen Chen Geoffrey C Gurtner Michael T Longaker Arash Momeni Derrick C Wan Source Type: research

The plasma miRNome and venous thromboembolism in high-grade glioma: miRNA Sequencing of a nested case-control cohort
J Cell Mol Med. 2024 Apr;28(8):e18149. doi: 10.1111/jcmm.18149.ABSTRACTPatients with high-grade gliomas are at high risk of venous thromboembolism (VTE). MicroRNAs (miRNAs) are small non-coding RNAs with multiple roles in tumour biology, haemostasis and platelet function. Their association with VTE risk in high-grade glioma has not been comprehensively mapped so far. We thus conducted a nested case-control study within 152 patients with WHO grade IV glioma that had been part of a prospective cohort study on VTE risk factors. At inclusion a single blood draw was taken, and patients were thereafter followed for a maximum of ...
Source: J Cell Mol Med - April 13, 2024 Category: Molecular Biology Authors: Friedrich Erhart Georg Widhalm Barbara Kiesel Matthias Hackl Andreas Diendorfer Matthias Preusser Karl R össler Johannes Thaler Ingrid Pabinger Cihan Ay Julia Riedl Source Type: research

Effect of Curcuma longa extract on reproduction function in mice and testosterone production in Leydig cells
This study aimed to investigate the efficacy of Curcuma longa extract (CLE) on Kidney-Yang deficiency mice induced by hydrocortisone and the possible roles in testosterone secretion in Leydig cells. We evaluated male sexual behaviour, reproductive organ weight, testosterone levels, and histological tissue changes in hydrocortisone-induced mice. CLE effectively reversed hydrocortisone-induced Kidney-Yang deficiency syndrome by improving sexual behaviour, testis and epididymis weight, testosterone levels and reducing pathological damage. Our in vitro study further indicated that CLE stimulated testosterone production via upr...
Source: J Cell Mol Med - April 13, 2024 Category: Molecular Biology Authors: Yisheng Zhang Liu Yang Shan Xue Yichang Zhang Zihan Li Min Zhang Guoyin Kai Juan Li Source Type: research

YAP/TAZ-TEAD signalling axis: A new therapeutic target in malignant pleural mesothelioma
J Cell Mol Med. 2024 Apr;28(8):e18330. doi: 10.1111/jcmm.18330.ABSTRACTThe Hippo signalling pathway, a highly conserved signalling cassette, regulates organ size by controlling cell growth, apoptosis and stem cell self-renewal. The tumourigenic potential of this pathway is largely attributed to the activity of YAP/TAZ, which activate the TEAD1-4 transcription factors, leading to the expression of genes involved in cell proliferation and suppression of cell death. Aberrant regulation of the YAP/TAZ-TEAD signalling axis is commonly observed in malignant pleural mesothelioma (MPM), an insidious neoplasm of the pleural tissue ...
Source: J Cell Mol Med - April 12, 2024 Category: Molecular Biology Authors: Kostas A Papavassiliou Amalia A Sofianidi Athanasios G Papavassiliou Source Type: research

YAP/TAZ-TEAD signalling axis: A new therapeutic target in malignant pleural mesothelioma
J Cell Mol Med. 2024 Apr;28(8):e18330. doi: 10.1111/jcmm.18330.ABSTRACTThe Hippo signalling pathway, a highly conserved signalling cassette, regulates organ size by controlling cell growth, apoptosis and stem cell self-renewal. The tumourigenic potential of this pathway is largely attributed to the activity of YAP/TAZ, which activate the TEAD1-4 transcription factors, leading to the expression of genes involved in cell proliferation and suppression of cell death. Aberrant regulation of the YAP/TAZ-TEAD signalling axis is commonly observed in malignant pleural mesothelioma (MPM), an insidious neoplasm of the pleural tissue ...
Source: J Cell Mol Med - April 12, 2024 Category: Molecular Biology Authors: Kostas A Papavassiliou Amalia A Sofianidi Athanasios G Papavassiliou Source Type: research

Engeletin alleviates depressive-like behaviours by modulating microglial polarization via the LCN2/CXCL10 signalling pathway
In conclusion, engeletin can alleviate CSDS-induced depressive-like behaviours by regulating the LCN2/CXCL10 pathway and thereby altering the polarization of microglia. These data suggest that the antidepressant effects of engeletin are correlated with the polarization of microglia, highlighting a potential avenue for future design of antidepressant strategies that specifically target the microglia.PMID:38597406 | PMC:PMC11005460 | DOI:10.1111/jcmm.18285 (Source: J Cell Mol Med)
Source: J Cell Mol Med - April 10, 2024 Category: Molecular Biology Authors: Jie Zhang Zheng Song Yanchao Huo Guangqiang Li Liming Lu Chuanmei Wei Shuping Zhang Xinfu Gao Xingyue Jiang Yangyang Xu Source Type: research