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  1. Article ; Online: DICER1 Syndrome.

    Hořínová, Věra / Drábová, Klára / Nosková, Hana / Bajčiová, Viera / Šoukalová, Jana / Černá, Leona / Hůrková, Věra / Slabý, Ondřej / Štěrba, Jaroslav

    Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti

    2019  Volume 32, Issue Supplementum2, Page(s) 123–127

    Abstract: DICER1 syndrome is an inherited disorder that increases the risk of different types of malignant and benign tumors. The syndrome is caused by mutations in the DICER1 gene, which is located on the long arm of chromosome 14, region q32.13. Patients with ... ...

    Title translation Syndrom DICER1.
    Abstract DICER1 syndrome is an inherited disorder that increases the risk of different types of malignant and benign tumors. The syndrome is caused by mutations in the DICER1 gene, which is located on the long arm of chromosome 14, region q32.13. Patients with DICER1 syndrome commonly develop pleuropulmonary blastoma (PPB), multinodular goiter, ovarian Sertoli-Leydig cell tumors, and/or other types of tumors. In approximately 35% of families with children manifesting PPB, further (and rather rare) malignancies may be observed, including cystic nephroma, nodular dysplasia of the thyroid gland, medulloepithelioma of the iris, embryonal rhabdomyosarcoma botryoid type, nasal epithelial hamartoma, pituitary blastoma, and/or pineoblastoma. Large studies report a high variability of tumors associated with DICER1. DICER1 syndrome, which is associated with an inherited predisposition to tumors, is inherited in an autosomal dominant pattern. Symptoms of DICER1 syndrome may vary, even within families. Preventive screening of carriers with causative mutations is complicated. Follow-up is undertaken as recommended by the 2016 International PPB Register. This work was supported by grant of Ministry of Health of the Czech Republic AZV 16-3329A. The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manuscript met the ICMJE recommendation for biomedical papers. Submitted: 4. 6. 2019 Accepted: 6. 6. 2019.
    MeSH term(s) DEAD-box RNA Helicases/genetics ; Genetic Predisposition to Disease ; Humans ; Mutation ; Neoplastic Syndromes, Hereditary/genetics ; Ribonuclease III/genetics
    Chemical Substances DICER1 protein, human (EC 3.1.26.3) ; Ribonuclease III (EC 3.1.26.3) ; DEAD-box RNA Helicases (EC 3.6.4.13)
    Language English
    Publishing date 2019-08-12
    Publishing country Czech Republic
    Document type Journal Article
    ZDB-ID 1217739-8
    ISSN 1802-5307 ; 0862-495X
    ISSN (online) 1802-5307
    ISSN 0862-495X
    DOI 10.14735/amko2019S123
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  2. Article ; Online: Germline multigene panel testing of patients with endometrial cancer.

    Kral, Jan / Jelinkova, Sandra / Zemankova, Petra / Vocka, Michal / Borecka, Marianna / Cerna, Leona / Cerna, Marta / Dostalek, Lukas / Duskova, Petra / Foretova, Lenka / Havranek, Ondrej / Horackova, Klara / Hovhannisyan, Milena / Chvojka, Stepan / Kalousova, Marta / Kosarova, Marcela / Koudova, Monika / Krutilkova, Vera / Machackova, Eva /
    Nehasil, Petr / Novotny, Jan / Otahalova, Barbora / Puchmajerova, Alena / Safarikova, Marketa / Slama, Jiri / Stranecky, Viktor / Subrt, Ivan / Tavandzis, Spiros / Zikan, Michal / Zima, Tomas / Soukupova, Jana / Kleiblova, Petra / Kleibl, Zdenek / Janatova, Marketa

    Oncology letters

    2023  Volume 25, Issue 6, Page(s) 216

    Abstract: Endometrial cancer (EC) is the most common gynecological malignancy in developed countries. The present study aimed to determine the frequency of germline pathogenic variants (PV) in patients with EC. In this multicenter retrospective cohort study, ... ...

    Abstract Endometrial cancer (EC) is the most common gynecological malignancy in developed countries. The present study aimed to determine the frequency of germline pathogenic variants (PV) in patients with EC. In this multicenter retrospective cohort study, germline genetic testing (GGT) was performed in 527 patients with EC using a next generation sequencing panel targeting 226 genes, including 5 Lynch syndrome (LS) and 14 hereditary breast and ovarian cancer (HBOC) predisposition genes, and 207 candidate predisposition genes. Gene-level risks were calculated using 1,662 population-matched controls (PMCs). Patients were sub-categorized to fulfill GGT criteria for LS, HBOC, both or none. A total of 60 patients (11.4%) carried PV in LS (5.1%) and HBOC (6.6%) predisposition genes, including two carriers of double PV. PV in LS genes conferred a significantly higher EC risk [odds ratio (OR), 22.4; 95% CI, 7.8-64.3; P=1.8×10
    Language English
    Publishing date 2023-04-12
    Publishing country Greece
    Document type Journal Article
    ZDB-ID 2573196-8
    ISSN 1792-1082 ; 1792-1074
    ISSN (online) 1792-1082
    ISSN 1792-1074
    DOI 10.3892/ol.2023.13802
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  3. Article ; Online: A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition.

    Zemankova, Petra / Cerna, Marta / Horackova, Klara / Ernst, Corinna / Soukupova, Jana / Borecka, Marianna / Blümcke, Britta / Cerna, Leona / Cerna, Monika / Curtisova, Vaclava / Dolezalova, Tatana / Duskova, Petra / Dvorakova, Lenka / Foretova, Lenka / Havranek, Ondrej / Hauke, Jan / Hahnen, Eric / Hodulova, Miloslava / Hovhannisyan, Milena /
    Hruskova, Lucie / Janatova, Marketa / Janikova, Maria / Jelinkova, Sandra / Just, Pavel / Kosarova, Marcela / Koudova, Monika / Krutilkova, Vera / Machackova, Eva / Matejkova, Katerina / Michalovska, Renata / Misove, Adela / Nehasil, Petr / Nemcova, Barbora / Novotny, Jan / Panczak, Ales / Pesek, Pavel / Scheinost, Ondrej / Springer, Drahomira / Stastna, Barbora / Stranecky, Viktor / Subrt, Ivan / Tavandzis, Spiros / Tureckova, Eva / Vesela, Kamila / Vlckova, Zdenka / Vocka, Michal / Wappenschmidt, Barbara / Zima, Tomas / Kleibl, Zdenek / Kleiblova, Petra

    Breast (Edinburgh, Scotland)

    2024  Volume 75, Page(s) 103721

    Abstract: Germline CHEK2 pathogenic variants confer an increased risk of female breast cancer (FBC). Here we describe a recurrent germline intronic variant c.1009-118_1009-87delinsC, which showed a splice acceptor shift in RNA analysis, introducing a premature ... ...

    Abstract Germline CHEK2 pathogenic variants confer an increased risk of female breast cancer (FBC). Here we describe a recurrent germline intronic variant c.1009-118_1009-87delinsC, which showed a splice acceptor shift in RNA analysis, introducing a premature stop codon (p.Tyr337PhefsTer37). The variant was found in 21/10,204 (0.21%) Czech FBC patients compared to 1/3250 (0.03%) controls (p = 0.04) and in 4/3639 (0.11%) FBC patients from an independent German dataset. In addition, we found this variant in 5/2966 (0.17%) Czech (but none of the 443 German) ovarian cancer patients, three of whom developed early-onset tumors. Based on these observations, we classified this variant as likely pathogenic.
    Language English
    Publishing date 2024-03-25
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 1143210-x
    ISSN 1532-3080 ; 0960-9776
    ISSN (online) 1532-3080
    ISSN 0960-9776
    DOI 10.1016/j.breast.2024.103721
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  4. Article: Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer.

    Lhotova, Klara / Stolarova, Lenka / Zemankova, Petra / Vocka, Michal / Janatova, Marketa / Borecka, Marianna / Cerna, Marta / Jelinkova, Sandra / Kral, Jan / Volkova, Zuzana / Urbanova, Marketa / Kleiblova, Petra / Machackova, Eva / Foretova, Lenka / Hazova, Jana / Vasickova, Petra / Lhota, Filip / Koudova, Monika / Cerna, Leona /
    Tavandzis, Spiros / Indrakova, Jana / Hruskova, Lucie / Kosarova, Marcela / Vrtel, Radek / Stranecky, Viktor / Kmoch, Stanislav / Zikan, Michal / Macurek, Libor / Kleibl, Zdenek / Soukupova, Jana

    Cancers

    2020  Volume 12, Issue 4

    Abstract: Ovarian cancer (OC) is the deadliest gynecologic malignancy with a substantial proportion of hereditary cases and a frequent association with breast cancer (BC). Genetic testing facilitates treatment and preventive strategies reducing OC mortality in ... ...

    Abstract Ovarian cancer (OC) is the deadliest gynecologic malignancy with a substantial proportion of hereditary cases and a frequent association with breast cancer (BC). Genetic testing facilitates treatment and preventive strategies reducing OC mortality in mutation carriers. However, the prevalence of germline mutations varies among populations and many rarely mutated OC predisposition genes remain to be identified. We aimed to analyze 219 genes in 1333 Czech OC patients and 2278 population-matched controls using next-generation sequencing. We revealed germline mutations in 18 OC/BC predisposition genes in 32.0% of patients and in 2.5% of controls. Mutations in
    Language English
    Publishing date 2020-04-13
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2527080-1
    ISSN 2072-6694
    ISSN 2072-6694
    DOI 10.3390/cancers12040956
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  5. Article ; Online: Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1.

    Stiburek, Lukas / Vesela, Katerina / Hansikova, Hana / Pecina, Petr / Tesarova, Marketa / Cerna, Leona / Houstek, Josef / Zeman, Jiri

    The Biochemical journal

    2005  Volume 392, Issue Pt 3, Page(s) 625–632

    Abstract: The biogenesis of eukaryotic COX (cytochrome c oxidase) requires several accessory proteins in addition to structural subunits and prosthetic groups. We have analysed the assembly state of COX and SCO2 protein levels in various tissues of six patients ... ...

    Abstract The biogenesis of eukaryotic COX (cytochrome c oxidase) requires several accessory proteins in addition to structural subunits and prosthetic groups. We have analysed the assembly state of COX and SCO2 protein levels in various tissues of six patients with mutations in SCO2 and SURF1. SCO2 is a copper-binding protein presumably involved in formation of the Cu(A) centre of the COX2 subunit. The function of SURF1 is unknown. Immunoblot analysis of native gels demonstrated that COX holoenzyme is reduced to 10-20% in skeletal muscle and brain of SCO2 and SURF1 patients and to 10-30% in heart of SCO2 patients, whereas liver of SCO2 patients' contained normal holoenzyme levels. The steady-state levels of mutant SCO2 protein ranged from 0 to 20% in different SCO2 patient tissues. In addition, eight distinct COX subcomplexes and unassembled subunits were found, some of them identical with known assembly intermediates of the human enzyme. Heart, brain and skeletal muscle of SCO2 patients contained accumulated levels of the COX1.COX4.COX5A subcomplex, three COX1-containing subcomplexes, a COX4.COX5A subcomplex and two subcomplexes composed of only COX4 or COX5A. The accumulation of COX1.COX4.COX5A subcomplex, along with the virtual absence of free COX2, suggests that the lack of the Cu(A) centre may result in decreased stability of COX2. The appearance of COX4.COX5A subcomplex indicates that association of these nucleus-encoded subunits probably precedes their addition to COX1 during the assembly process. Finally, the consequences of SCO2 and SURF1 mutations suggest the existence of tissue-specific functional differences of these proteins that may serve different tissue-specific requirements for the regulation of COX biogenesis.
    MeSH term(s) Brain/enzymology ; Carrier Proteins ; Child, Preschool ; Electron Transport Complex IV/biosynthesis ; Electron Transport Complex IV/chemistry ; Electron Transport Complex IV/metabolism ; Fibroblasts/enzymology ; Gene Expression Regulation, Enzymologic ; Humans ; Infant ; Liver/enzymology ; Membrane Proteins ; Mitochondrial Proteins ; Muscle, Skeletal/enzymology ; Mutation/genetics ; Myocardium/enzymology ; Organ Specificity ; Protein Subunits/chemistry ; Protein Subunits/metabolism ; Proteins/genetics ; Proteins/metabolism
    Chemical Substances Carrier Proteins ; Membrane Proteins ; Mitochondrial Proteins ; Protein Subunits ; Proteins ; SCO2 protein, human ; Surf-1 protein ; Electron Transport Complex IV (EC 1.9.3.1)
    Language English
    Publishing date 2005-12-15
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2969-5
    ISSN 1470-8728 ; 0006-2936 ; 0306-3275 ; 0264-6021
    ISSN (online) 1470-8728
    ISSN 0006-2936 ; 0306-3275 ; 0264-6021
    DOI 10.1042/BJ20050807
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  6. Article: Segregation pattern and biochemical effect of the G3460A mtDNA mutation in 27 members of LHON family.

    Kaplanová, Vilma / Zeman, Jirí / Hansíková, Hana / Cerná, Leona / Houst'ková, Hana / Misovicová, Nadezda / Houstek, Josef

    Journal of the neurological sciences

    2004  Volume 223, Issue 2, Page(s) 149–155

    Abstract: Inheritance and expression of mitochondrial DNA (mtDNA) mutations are crucial for the pathogenesis of Leber hereditary optic neuropathy (LHON). We have investigated the segregation and functional consequences of G3460A mtDNA mutation in 27 members of a ... ...

    Abstract Inheritance and expression of mitochondrial DNA (mtDNA) mutations are crucial for the pathogenesis of Leber hereditary optic neuropathy (LHON). We have investigated the segregation and functional consequences of G3460A mtDNA mutation in 27 members of a three-generation family with LHON syndrome. Specific activity of respiratory chain complex I in platelets was reduced in average to 56%, but no direct correlation between the mutation load and its biochemical expression was found. Heteroplasmy in blood, platelets and hair follicles varied from 7% to 100%. Segregation pattern exhibited tissue specificity and influence of different nuclear backgrounds in four branches of the pedigree. Longitudinal analysis revealed a significant (p=0.02) decrease in blood mutation load. Although enzyme assay showed reduction of complex I activity, our results give additional support to the hypothesis that expression of LHON mutation depends on complex nuclear-mitochondrial interaction.
    MeSH term(s) Alanine/genetics ; Analysis of Variance ; DNA Mutational Analysis/methods ; DNA, Mitochondrial/blood ; DNA, Mitochondrial/genetics ; Family Health ; Female ; Glycine/genetics ; Humans ; Longitudinal Studies ; Male ; NAD/blood ; Optic Atrophy, Hereditary, Leber/blood ; Optic Atrophy, Hereditary, Leber/genetics ; Oxidoreductases/blood ; Pedigree ; Point Mutation ; Rotenone
    Chemical Substances DNA, Mitochondrial ; Rotenone (03L9OT429T) ; NAD (0U46U6E8UK) ; Oxidoreductases (EC 1.-) ; Alanine (OF5P57N2ZX) ; Glycine (TE7660XO1C)
    Language English
    Publishing date 2004-08-30
    Publishing country Netherlands
    Document type Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 80160-4
    ISSN 1878-5883 ; 0022-510X ; 0374-8642
    ISSN (online) 1878-5883
    ISSN 0022-510X ; 0374-8642
    DOI 10.1016/j.jns.2004.05.001
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