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Journal of B.U.ON. : Official Journal... 2021Molecular biology of cancer cell is a domain of medical science that is rapidly growing in our days. Knowing the ways and paths that cancer cells follow is crucial to... (Review)
Review
Molecular biology of cancer cell is a domain of medical science that is rapidly growing in our days. Knowing the ways and paths that cancer cells follow is crucial to the prevention of cancer itself. Central role to these paths, concerning the cell cycle and the process of apoptosis, has the protein p53. The whole mechanism of the cell cycle is activated by the action of various mitogens, such as growth factors, hormones and cytokines. Carcinogenesis involves alterations of genes (proto-oncogenes and tumor suppressor genes), which encode proteins of the signal transduction. Many of the damages that lead to carcinogenesis may be due to the lack of repressive signals for cell division, but also to the absence of the sensitivity of cells to repressive signals. The cell has mechanisms of receiving apoptotic-antitumor signals and mechanisms of execution of these instructions. A percentage of cancers (4-8%) are etiologically linked to germ (stem) cells mutations and occur at an increased frequency in families (hereditary cancers). Substantial progress in understanding the mechanisms of carcinogenesis, filtration and metastasis of cancer has highlighted the key role of specific genes, primarily oncogenes and tumor suppressor genes.
Topics: Humans; Molecular Biology; Neoplasms
PubMed: 34761575
DOI: No ID Found -
International Journal of Nanomedicine 2020Exosomes are nano-sized small extracellular vesicles secreted by cells, carrying nucleic acids, proteins, lipids and other bioactive substances to play a role in the... (Review)
Review
Exosomes are nano-sized small extracellular vesicles secreted by cells, carrying nucleic acids, proteins, lipids and other bioactive substances to play a role in the body's physiological and pathological processes. Compared to synthetic carriers such as liposomes and nanoparticles, the endogeneity and heterogeneity of exosomes give them extensive and unique advantages in the field of disease diagnosis and treatment. However, the storage stability, low yield, low purity, and weak targeting of exosomes limit its clinical application. For this reason, further exploration is needed to optimize the above problems and facilitate future functional studies of exosomes. In this paper, the origin, classification, preparation and characterization, storage stability and applications of exosome delivery system are summarized and discussed by searching a large number of literatures.
Topics: Cryopreservation; Drug Delivery Systems; Exosomes; Food; Freeze Drying; Humans; Molecular Biology; Molecular Targeted Therapy; Nucleic Acids; Proteins
PubMed: 33061359
DOI: 10.2147/IJN.S264498 -
EMBO Molecular Medicine Nov 2020Sarcomas are heterogeneous and clinically challenging soft tissue and bone cancers. Although constituting only 1% of all human malignancies, sarcomas represent the... (Review)
Review
Sarcomas are heterogeneous and clinically challenging soft tissue and bone cancers. Although constituting only 1% of all human malignancies, sarcomas represent the second most common type of solid tumors in children and adolescents and comprise an important group of secondary malignancies. More than 100 histological subtypes have been characterized to date, and many more are being discovered due to molecular profiling. Owing to their mostly aggressive biological behavior, relative rarity, and occurrence at virtually every anatomical site, many sarcoma subtypes are in particular difficult-to-treat categories. Current multimodal treatment concepts combine surgery, polychemotherapy (with/without local hyperthermia), irradiation, immunotherapy, and/or targeted therapeutics. Recent scientific advancements have enabled a more precise molecular characterization of sarcoma subtypes and revealed novel therapeutic targets and prognostic/predictive biomarkers. This review aims at providing a comprehensive overview of the latest advances in the molecular biology of sarcomas and their effects on clinical oncology; it is meant for a broad readership ranging from novices to experts in the field of sarcoma.
Topics: Adolescent; Bone Neoplasms; Child; Humans; Molecular Medicine; Osteosarcoma; Sarcoma; Soft Tissue Neoplasms
PubMed: 33047515
DOI: 10.15252/emmm.201911131 -
Biomolecules May 2021Homocysteine is a non-proteinogenic sulfhydryl-containing amino acid derived from methionine and is a homologue of cysteine [...].
Homocysteine is a non-proteinogenic sulfhydryl-containing amino acid derived from methionine and is a homologue of cysteine [...].
Topics: Animals; Biochemistry; Disease; Homocysteine; Humans; Molecular Biology
PubMed: 34063494
DOI: 10.3390/biom11050737 -
Journal For Immunotherapy of Cancer Mar 2020Cells succumbing to stress via regulated cell death (RCD) can initiate an adaptive immune response associated with immunological memory, provided they display sufficient... (Review)
Review
Cells succumbing to stress via regulated cell death (RCD) can initiate an adaptive immune response associated with immunological memory, provided they display sufficient antigenicity and adjuvanticity. Moreover, multiple intracellular and microenvironmental features determine the propensity of RCD to drive adaptive immunity. Here, we provide an updated operational definition of immunogenic cell death (ICD), discuss the key factors that dictate the ability of dying cells to drive an adaptive immune response, summarize experimental assays that are currently available for the assessment of ICD in vitro and in vivo, and formulate guidelines for their interpretation.
Topics: Consensus; Guidelines as Topic; Humans; Immunogenic Cell Death; Molecular Biology
PubMed: 32209603
DOI: 10.1136/jitc-2019-000337 -
Journal of Thrombosis and Thrombolysis Aug 2021Blood coagulation factor X/Xa sits at a pivotal point in the coagulation cascade and has a role in each of the three major pathways (intrinsic, extrinsic and the common... (Review)
Review
Blood coagulation factor X/Xa sits at a pivotal point in the coagulation cascade and has a role in each of the three major pathways (intrinsic, extrinsic and the common pathway). Due to this central position, it is an attractive therapeutic target to either enhance or dampen thrombin generation. In this brief review, I will summarize key developments in the molecular understanding of this critical clotting factor and discuss the molecular basis of FX deficiency, highlight difficulties in expressing recombinant factor X, and detail two factor X variants evaluated clinically.
Topics: Blood Coagulation; Blood Coagulation Factors; Blood Coagulation Tests; Factor X; Factor Xa; Humans; Molecular Biology; Thrombin
PubMed: 33886037
DOI: 10.1007/s11239-021-02456-w -
The British Journal of Ophthalmology Apr 2020Macular dystrophies (MDs) consist of a heterogeneous group of disorders that are characterised by bilateral symmetrical central visual loss. Advances in genetic testing... (Review)
Review
Macular dystrophies (MDs) consist of a heterogeneous group of disorders that are characterised by bilateral symmetrical central visual loss. Advances in genetic testing over the last decade have led to improved knowledge of the underlying molecular basis. The developments in high-resolution multimodal retinal imaging have also transformed our ability to make accurate and more timely diagnoses and more sensitive quantitative assessment of disease progression, and allowed the design of optimised clinical trial endpoints for novel therapeutic interventions. The aim of this review was to provide an update on MDs, including Stargardt disease, Best disease, X-linked r etinoschisis, pattern dystrophy, Sorsby fundus dystrophy and autosomal dominant drusen. It highlights the range of innovations in retinal imaging, genotype-phenotype and structure-function associations, animal models of disease and the multiple treatment strategies that are currently in clinical trial or planned in the near future, which are anticipated to lead to significant changes in the management of patients with MDs.
Topics: Diagnostic Imaging; Humans; Macular Degeneration; Molecular Biology; Therapeutics
PubMed: 31704701
DOI: 10.1136/bjophthalmol-2019-315086 -
Journal of Hepatology Oct 2021Non-alcoholic steatohepatitis (NASH)-related hepatocellular carcinoma (HCC) is increasing globally, but its molecular features are not well defined. We aimed to identify...
BACKGROUND AND AIMS
Non-alcoholic steatohepatitis (NASH)-related hepatocellular carcinoma (HCC) is increasing globally, but its molecular features are not well defined. We aimed to identify unique molecular traits characterising NASH-HCC compared to other HCC aetiologies.
METHODS
We collected 80 NASH-HCC and 125 NASH samples from 5 institutions. Expression array (n = 53 NASH-HCC; n = 74 NASH) and whole exome sequencing (n = 52 NASH-HCC) data were compared to HCCs of other aetiologies (n = 184). Three NASH-HCC mouse models were analysed by RNA-seq/expression-array (n = 20). Activin A receptor type 2A (ACVR2A) was silenced in HCC cells and proliferation assessed by colorimetric and colony formation assays.
RESULTS
Mutational profiling of NASH-HCC tumours revealed TERT promoter (56%), CTNNB1 (28%), TP53 (18%) and ACVR2A (10%) as the most frequently mutated genes. ACVR2A mutation rates were higher in NASH-HCC than in other HCC aetiologies (10% vs. 3%, p <0.05). In vitro, ACVR2A silencing prompted a significant increase in cell proliferation in HCC cells. We identified a novel mutational signature (MutSig-NASH-HCC) significantly associated with NASH-HCC (16% vs. 2% in viral/alcohol-HCC, p = 0.03). Tumour mutational burden was higher in non-cirrhotic than in cirrhotic NASH-HCCs (1.45 vs. 0.94 mutations/megabase; p <0.0017). Compared to other aetiologies of HCC, NASH-HCCs were enriched in bile and fatty acid signalling, oxidative stress and inflammation, and presented a higher fraction of Wnt/TGF-β proliferation subclass tumours (42% vs. 26%, p = 0.01) and a lower prevalence of the CTNNB1 subclass. Compared to other aetiologies, NASH-HCC showed a significantly higher prevalence of an immunosuppressive cancer field. In 3 murine models of NASH-HCC, key features of human NASH-HCC were preserved.
CONCLUSIONS
NASH-HCCs display unique molecular features including higher rates of ACVR2A mutations and the presence of a newly identified mutational signature.
LAY SUMMARY
The prevalence of hepatocellular carcinoma (HCC) associated with non-alcoholic steatohepatitis (NASH) is increasing globally, but its molecular traits are not well characterised. In this study, we uncovered higher rates of ACVR2A mutations (10%) - a potential tumour suppressor - and the presence of a novel mutational signature that characterises NASH-related HCC.
Topics: Aged; Aged, 80 and over; Carcinoma, Hepatocellular; Female; Humans; Liver Neoplasms; Male; Middle Aged; Molecular Biology; Non-alcoholic Fatty Liver Disease; Risk Factors
PubMed: 33992698
DOI: 10.1016/j.jhep.2021.04.049 -
Mathematical Biosciences and... Mar 2020
Topics: Computational Biology; Machine Learning; Molecular Biology
PubMed: 32987499
DOI: 10.3934/mbe.2020156 -
Genes Apr 2022Since early December 2019, the COVID-19 pandemic has impacted global society: over 400 million people have been infected with SARS-CoV-2, and there have been nearly 6...
Since early December 2019, the COVID-19 pandemic has impacted global society: over 400 million people have been infected with SARS-CoV-2, and there have been nearly 6 million deaths worldwide (1 [...].
Topics: COVID-19; Humans; Molecular Biology; Pandemics; SARS-CoV-2
PubMed: 35456482
DOI: 10.3390/genes13040676