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  1. Article ; Online: SDHA

    Schipani, Angela / Nannini, Margherita / Astolfi, Annalisa / Pantaleo, Maria A

    Genes

    2023  Volume 14, Issue 3

    Abstract: Loss of function of the succinate dehydrogenase complex characterizes 20-40% of ... ...

    Abstract Loss of function of the succinate dehydrogenase complex characterizes 20-40% of all
    MeSH term(s) Humans ; Gastrointestinal Stromal Tumors/genetics ; Germ-Line Mutation ; Succinate Dehydrogenase/genetics ; Mutation ; DNA Methylation ; Electron Transport Complex II/genetics ; Electron Transport Complex II/metabolism
    Chemical Substances Succinate Dehydrogenase (EC 1.3.99.1) ; SDHA protein, human (EC 1.3.5.1) ; Electron Transport Complex II (EC 1.3.5.1)
    Language English
    Publishing date 2023-03-04
    Publishing country Switzerland
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes14030646
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Preclinical Models of Visceral Sarcomas.

    Costa, Alice / Gozzellino, Livia / Nannini, Margherita / Astolfi, Annalisa / Pantaleo, Maria Abbondanza / Pasquinelli, Gianandrea

    Biomolecules

    2023  Volume 13, Issue 11

    Abstract: Visceral sarcomas are a rare malignant subgroup of soft tissue sarcomas (STSs). STSs, accounting for 1% of all adult tumors, are derived from mesenchymal tissues and exhibit a wide heterogeneity. Their rarity and the high number of histotypes hinder the ... ...

    Abstract Visceral sarcomas are a rare malignant subgroup of soft tissue sarcomas (STSs). STSs, accounting for 1% of all adult tumors, are derived from mesenchymal tissues and exhibit a wide heterogeneity. Their rarity and the high number of histotypes hinder the understanding of tumor development mechanisms and negatively influence clinical outcomes and treatment approaches. Although some STSs (~20%) have identifiable genetic markers, as specific mutations or translocations, most are characterized by complex genomic profiles. Thus, identification of new therapeutic targets and development of personalized therapies are urgent clinical needs. Although cell lines are useful for preclinical investigations, more reliable preclinical models are required to develop and test new potential therapies. Here, we provide an overview of the available in vitro and in vivo models of visceral sarcomas, whose gene signatures are still not well characterized, to highlight current challenges and provide insights for future studies.
    MeSH term(s) Humans ; Sarcoma/genetics ; Sarcoma/pathology ; Soft Tissue Neoplasms/genetics ; Cell Line
    Language English
    Publishing date 2023-11-06
    Publishing country Switzerland
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 2701262-1
    ISSN 2218-273X ; 2218-273X
    ISSN (online) 2218-273X
    ISSN 2218-273X
    DOI 10.3390/biom13111624
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Targeted therapy in

    Nannini, Margherita / Rizzo, Alessandro / Indio, Valentina / Schipani, Angela / Astolfi, Annalisa / Pantaleo, Maria Abbondanza

    Therapeutic advances in medical oncology

    2021  Volume 13, Page(s) 17588359211023278

    Abstract: The medical management of advanced gastrointestinal stromal tumors (GIST) has improved with the development of tyrosine kinase inhibitors (TKIs) ... ...

    Abstract The medical management of advanced gastrointestinal stromal tumors (GIST) has improved with the development of tyrosine kinase inhibitors (TKIs) targeting
    Language English
    Publishing date 2021-06-28
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 2503443-1
    ISSN 1758-8359 ; 1758-8340
    ISSN (online) 1758-8359
    ISSN 1758-8340
    DOI 10.1177/17588359211023278
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update

    Schipani, Angela / Nannini, Margherita / Astolfi, Annalisa / Pantaleo, Maria A.

    Genes (Basel). 2023 Mar. 04, v. 14, no. 3

    2023  

    Abstract: Loss of function of the succinate dehydrogenase complex characterizes 20–40% of all KIT/PDGFRA-negative GIST. Approximately half of SDH-deficient GIST patients lack SDHx mutations and are caused by a hypermethylation of the SDHC promoter, which causes ... ...

    Abstract Loss of function of the succinate dehydrogenase complex characterizes 20–40% of all KIT/PDGFRA-negative GIST. Approximately half of SDH-deficient GIST patients lack SDHx mutations and are caused by a hypermethylation of the SDHC promoter, which causes the repression of SDHC transcription and depletion of SDHC protein levels through a mechanism described as epimutation. The remaining 50% of SDH-deficient GISTs have mutations in one of the SDH subunits and SDHA mutations are the most common (30%), with consequent loss of SDHA and SDHB protein expression immunohistochemically. SDHB, SDHC, and SDHD mutations in GIST occur in only 20–30% of cases and most of these SDH mutations are germline. More recently, germline mutations in SDHA have also been described in several patients with loss of function of the SDH complex. SDHA-mutant patients usually carry two mutational events at the SDHA locus, either the loss of the wild type allele or a second somatic event in compound heterozygosis. This review provides an overview of all data in the literature regarding SDHA-mutated GIST, especially focusing on the prevalence of germline mutations in SDH-deficient GIST populations who harbor SDHA somatic mutations, and offers a view towards understanding the importance of genetic counselling for SDHA-variant carriers and relatives.
    Keywords alleles ; germ cells ; immunohistochemistry ; loci ; protein synthesis ; succinate dehydrogenase (quinone)
    Language English
    Dates of publication 2023-0304
    Publishing place Multidisciplinary Digital Publishing Institute
    Document type Article ; Online
    ZDB-ID 2527218-4
    ISSN 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes14030646
    Database NAL-Catalogue (AGRICOLA)

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  5. Article: miRNA-221 and miRNA-483-3p Dysregulation in Esophageal Adenocarcinoma.

    Bozzarelli, Isotta / Orsini, Arianna / Isidori, Federica / Mastracci, Luca / Malvi, Deborah / Lugaresi, Marialuisa / Fittipaldi, Silvia / Gozzellino, Livia / Astolfi, Annalisa / Räsänen, Jari / D'Errico, Antonia / Rosati, Riccardo / Fiocca, Roberto / Seri, Marco / Krishnadath, Kausilia K / Bonora, Elena / Mattioli, Sandro

    Cancers

    2024  Volume 16, Issue 3

    Abstract: Alterations in microRNA (miRNA) expression have been reported in different cancers. We assessed the expression of 754 oncology-related miRNAs in esophageal adenocarcinoma (EAC) samples and evaluated their correlations with clinical parameters. We found ... ...

    Abstract Alterations in microRNA (miRNA) expression have been reported in different cancers. We assessed the expression of 754 oncology-related miRNAs in esophageal adenocarcinoma (EAC) samples and evaluated their correlations with clinical parameters. We found that miR-221 and 483-3p were consistently upregulated in EAC patients vs. controls (Wilcoxon signed-rank test: miR-221
    Language English
    Publishing date 2024-01-30
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2527080-1
    ISSN 2072-6694
    ISSN 2072-6694
    DOI 10.3390/cancers16030591
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: SRF Rearrangements in Soft Tissue Tumors with Muscle Differentiation.

    Costa, Alice / Gozzellino, Livia / Urbini, Milena / Indio, Valentina / Nannini, Margherita / Pantaleo, Maria Abbondanza / Stacchiotti, Silvia / Astolfi, Annalisa / Pasquinelli, Gianandrea

    Biomolecules

    2022  Volume 12, Issue 11

    Abstract: The Serum Response Factor (SRF) is a transcription factor that regulates the expression of a wide set of genes involved in cell proliferation, migration, cytoskeletal organization and myogenesis. Accumulating evidence suggests ... ...

    Abstract The Serum Response Factor (SRF) is a transcription factor that regulates the expression of a wide set of genes involved in cell proliferation, migration, cytoskeletal organization and myogenesis. Accumulating evidence suggests that
    MeSH term(s) Humans ; Serum Response Factor/genetics ; Serum Response Factor/metabolism ; Soft Tissue Neoplasms/genetics ; Cell Differentiation/genetics ; Transcription Factors/genetics ; Muscles/metabolism
    Chemical Substances Serum Response Factor ; Transcription Factors
    Language English
    Publishing date 2022-11-12
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2701262-1
    ISSN 2218-273X ; 2218-273X
    ISSN (online) 2218-273X
    ISSN 2218-273X
    DOI 10.3390/biom12111678
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Neuronopathic Gaucher disease models reveal defects in cell growth promoted by Hippo pathway activation.

    Messelodi, Daria / Strocchi, Silvia / Bertuccio, Salvatore Nicola / Baden, Pascale / Indio, Valentina / Giorgi, Federico M / Taddia, Alberto / Serravalle, Salvatore / Valente, Sabrina / di Fonzo, Alessio / Frattini, Emanuele / Bernardoni, Roberto / Pession, Annalisa / Grifoni, Daniela / Deleidi, Michela / Astolfi, Annalisa / Pession, Andrea

    Communications biology

    2023  Volume 6, Issue 1, Page(s) 431

    Abstract: Gaucher Disease (GD), the most common lysosomal disorder, arises from mutations in the GBA1 gene and is characterized by a wide spectrum of phenotypes, ranging from mild hematological and visceral involvement to severe neurological disease. Neuronopathic ...

    Abstract Gaucher Disease (GD), the most common lysosomal disorder, arises from mutations in the GBA1 gene and is characterized by a wide spectrum of phenotypes, ranging from mild hematological and visceral involvement to severe neurological disease. Neuronopathic patients display dramatic neuronal loss and increased neuroinflammation, whose molecular basis are still unclear. Using a combination of Drosophila dGBA1b loss-of-function models and GD patient-derived iPSCs differentiated towards neuronal precursors and mature neurons we showed that different GD- tissues and neuronal cells display an impairment of growth mechanisms with an increased cell death and reduced proliferation. These phenotypes are coupled with the downregulation of several Hippo transcriptional targets, mainly involved in cells and tissue growth, and YAP exclusion from nuclei. Interestingly, Hippo knock-down in the GBA-KO flies rescues the proliferative defect, suggesting that targeting the Hippo pathway can be a promising therapeutic approach to neuronopathic GD.
    MeSH term(s) Humans ; Gaucher Disease/genetics ; Gaucher Disease/metabolism ; Gaucher Disease/therapy ; Glucosylceramidase/genetics ; Glucosylceramidase/metabolism ; Hippo Signaling Pathway ; Neurons/metabolism ; Cell Proliferation
    Chemical Substances Glucosylceramidase (EC 3.2.1.45)
    Language English
    Publishing date 2023-04-19
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 2399-3642
    ISSN (online) 2399-3642
    DOI 10.1038/s42003-023-04813-2
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Undetected KIT and PDGFRA mutations: an under-recognised cause of gastrointestinal stromal tumours (GISTs) incorrectly classified as wild-type.

    Astolfi, Annalisa / Gill, Anthony / Rubin, Brian P / Montoya, Denisse / Rothschild, Sara / Call, Jerry / Pantaleo, Maria A

    Pathology

    2022  Volume 55, Issue 1, Page(s) 136–139

    MeSH term(s) Humans ; Gastrointestinal Stromal Tumors/diagnosis ; Gastrointestinal Stromal Tumors/genetics ; Gastrointestinal Stromal Tumors/pathology ; Mutation ; Receptor Protein-Tyrosine Kinases ; Proto-Oncogene Proteins c-kit/genetics ; Receptor, Platelet-Derived Growth Factor alpha/genetics ; Gastrointestinal Neoplasms/diagnosis ; Gastrointestinal Neoplasms/genetics
    Chemical Substances Receptor Protein-Tyrosine Kinases (EC 2.7.10.1) ; Proto-Oncogene Proteins c-kit (EC 2.7.10.1) ; Receptor, Platelet-Derived Growth Factor alpha (EC 2.7.10.1)
    Language English
    Publishing date 2022-06-28
    Publishing country England
    Document type Letter
    ZDB-ID 7085-3
    ISSN 1465-3931 ; 0031-3025
    ISSN (online) 1465-3931
    ISSN 0031-3025
    DOI 10.1016/j.pathol.2022.05.004
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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  9. Article: The Identity of PDGFRA D842V-Mutant Gastrointestinal Stromal Tumors (GIST).

    Rizzo, Alessandro / Pantaleo, Maria Abbondanza / Astolfi, Annalisa / Indio, Valentina / Nannini, Margherita

    Cancers

    2021  Volume 13, Issue 4

    Abstract: The majority of gastrointestinal stromal tumors (GIST) carry a sensitive primary KIT mutation, but approximately 5% to 10% of cases harbor activating mutations of platelet-derived growth factor receptor (PDGFRA), mainly involving the A-loop encoded by ... ...

    Abstract The majority of gastrointestinal stromal tumors (GIST) carry a sensitive primary KIT mutation, but approximately 5% to 10% of cases harbor activating mutations of platelet-derived growth factor receptor (PDGFRA), mainly involving the A-loop encoded by exon 18 (~5%), or more rarely the JM domain, encoded by exon 12 (~1%), or the ATP binding domain encoded by exon 14 (<1%). The most frequent mutation is the substitution at position 842 in the A-loop of an aspartic acid (D) with a valine (V) in exon 18, widely recognized as D842V. This mutation, as well known, provides primary resistance to imatinib and sunitinib. Thus, until few years ago, no active drugs were available for this subtype of GIST. Conversely, recent years have witnessed the development of a new specific inhibitor-avapritinib-that has been studied in in vitro and clinical setting with promising results. In light of this primary resistance to conventional therapies, the biological background of D842V-mutant GIST has been deeply investigated to better understand what features characterize this peculiar subset of GIST, and some promising insights have emerged. Hereinafter, we present a comprehensive overview on the clinical features and the molecular background of this rare subtype of GIST.
    Language English
    Publishing date 2021-02-09
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2527080-1
    ISSN 2072-6694
    ISSN 2072-6694
    DOI 10.3390/cancers13040705
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article: SDHA

    Pantaleo, Maria A / Urbini, Milena / Schipani, Angela / Nannini, Margherita / Indio, Valentina / De Leo, Antonio / Vincenzi, Bruno / Brunello, Antonella / Grignani, Giovanni / Casagrande, Mariaelena / Fumagalli, Elena / Conca, Elena / Saponara, Maristella / Gruppioni, Elisa / Altimari, Annalisa / De Biase, Dario / Tallini, Giovanni / Ravegnini, Gloria / Turchetti, Daniela /
    Seri, Marco / Ardizzoni, Andrea / Secchiero, Paola / Astolfi, Annalisa

    Frontiers in oncology

    2022  Volume 11, Page(s) 778461

    Abstract: Background: SDH-: Methods: Germline : Results: All patients carried a germline : Conclusion: ... ...

    Abstract Background: SDH-
    Methods: Germline
    Results: All patients carried a germline
    Conclusion: SDHA
    Language English
    Publishing date 2022-01-04
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2649216-7
    ISSN 2234-943X
    ISSN 2234-943X
    DOI 10.3389/fonc.2021.778461
    Database MEDical Literature Analysis and Retrieval System OnLINE

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