Treffer 1 - 10 von insgesamt 16812
Chicago medical examiner
2023 Band 12, Heft 6, Seite(n) 346–347
| Sprache | Englisch |
|---|---|
| Erscheinungsdatum | 2023-07-20 |
| Erscheinungsland | United States |
| Dokumenttyp | Journal Article |
| Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
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2024 Band 73, Heft 6, Seite(n) 1002–1011
| Mesh-Begriff(e) | Humans ; Diabetes Mellitus, Type 2/genetics ; HLA-DRB1 Chains/genetics ; Epistasis, Genetic ; Female ; Male ; Middle Aged ; Genetic Predisposition to Disease ; Monocarboxylic Acid Transporters/genetics ; Indians, North American/genetics ; Adult ; Genotype ; Alleles ; Body Mass Index ; Haplotypes ; Polymorphism, Single Nucleotide ; Aged |
|---|---|
| Chemische Substanzen | SLC16A11 protein, human |
| Sprache | Englisch |
| Erscheinungsdatum | 2024-06-01 |
| Erscheinungsland | United States |
| Dokumenttyp | Journal Article |
| ZDB-ID | 80085-5 |
| ISSN | 1939-327X ; 0012-1797 |
| ISSN (online) | 1939-327X |
| ISSN | 0012-1797 |
| DOI | 10.2337/db23-0925 |
| Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
| Uh III Zs.175: Hefte anzeigen | Standort: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG) |
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2006 Band 15, Heft 1, Seite(n) 175–177
| Mesh-Begriff(e) | African Americans/genetics ; Age of Onset ; Alleles ; Breast Neoplasms/ethnology ; Breast Neoplasms/genetics ; Case-Control Studies ; European Continental Ancestry Group/genetics ; Female ; Gene Frequency ; Genes, p53 ; Genetic Predisposition to Disease ; Genotype ; Humans ; Mutation ; North Carolina ; Odds Ratio ; Polymorphism, Genetic ; Promoter Regions, Genetic ; Proto-Oncogene Proteins c-mdm2/genetics |
|---|---|
| Chemische Substanzen | Proto-Oncogene Proteins c-mdm2 (EC 2.3.2.27) |
| Sprache | Englisch |
| Erscheinungsdatum | 2006-01 |
| Erscheinungsland | United States |
| Dokumenttyp | Journal Article ; Research Support, N.I.H., Extramural |
| ZDB-ID | 1153420-5 |
| ISSN | 1055-9965 |
| ISSN | 1055-9965 |
| DOI | 10.1158/1055-9965.EPI-05-0692 |
| Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
| Zs.A 3693: Hefte anzeigen | Standort: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG) |
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2002 Band 11, Heft 23, Seite(n) 2961–2967
Abstract: ... from affected individuals displayed a significant excess of somatic G:C-->T:A mutations in APC, as compared ... The sequence immediately downstream of the somatic G:C-->T:A mutations was predominantly AA, irrespective ...
| Abstract | We have recently demonstrated that inherited defects of the base excision repair gene MYH predispose to multiple colorectal adenomas and carcinoma. Three affected siblings from a single British family were identified as Y165C/G382D compound heterozygotes and both missense mutations were shown to be functionally compromised. Here, we report the identification of seven further unrelated patients with >100 colorectal adenomas (six with colorectal cancer) and biallelic germline mutations in MYH: four were homozygous for truncating mutations, two were homozygous for Y165C and one was a Y165C/G382D compound heterozygote. As predicted from studies of the bacterial and yeast orthologues of MYH, colorectal tumours from affected individuals displayed a significant excess of somatic G:C-->T:A mutations in APC, as compared to sporadic ( chi(2)=242.96, P<10(-20)) or FAP-associated ( chi(2)=194.85, P<10(-20)) colorectal tumours. The sequence immediately downstream of the somatic G:C-->T:A mutations was predominantly AA, irrespective of the nature of the germline MYH mutations. These findings confirm the role of MYH in colorectal adenoma and carcinoma predisposition. |
|---|---|
| Mesh-Begriff(e) | Adenoma/genetics ; Alleles ; Chromatography, High Pressure Liquid ; Codon ; Colorectal Neoplasms/genetics ; DNA Glycosylases ; DNA, Neoplasm/blood ; DNA, Neoplasm/genetics ; Exons/genetics ; Genetic Predisposition to Disease/genetics ; Germ-Line Mutation ; Humans ; N-Glycosyl Hydrolases/genetics ; Neoplasms, Multiple Primary/genetics ; Phenotype ; Polymerase Chain Reaction |
| Chemische Substanzen | Codon ; DNA, Neoplasm ; DNA Glycosylases (EC 3.2.2.-) ; N-Glycosyl Hydrolases (EC 3.2.2.-) ; mutY adenine glycosylase (EC 3.2.2.-) |
| Sprache | Englisch |
| Erscheinungsdatum | 2002-11-01 |
| Erscheinungsland | England |
| Dokumenttyp | Journal Article ; Research Support, Non-U.S. Gov't |
| ZDB-ID | 1108742-0 |
| ISSN | 1460-2083 ; 0964-6906 |
| ISSN (online) | 1460-2083 |
| ISSN | 0964-6906 |
| DOI | 10.1093/hmg/11.23.2961 |
| Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
| Zs.A 3469: Hefte anzeigen | Standort: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG) |
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2002 Band 30, Heft 2, Seite(n) 227–232
Abstract: ... to increased transversions of G:C to T:A. We have studied family N, which is affected with multiple colorectal ... 18 somatic inactivating mutations of APC and that 15 of these mutations are G:C-->A transversions ... of the Tyr82Cys and Gly253Asp mutant proteins with 8-oxoG:A and G:A substrates show that their activity is reduced ...
| Abstract | Inherited defects of base excision repair have not been associated with any human genetic disorder, although mutations of the genes mutM and mutY, which function in Escherichia coli base excision repair, lead to increased transversions of G:C to T:A. We have studied family N, which is affected with multiple colorectal adenomas and carcinoma but lacks an inherited mutation of the adenomatous polyposis coli gene (APC) that is associated with familial adenomatous polyposis. Here we show that 11 tumors from 3 affected siblings contain 18 somatic inactivating mutations of APC and that 15 of these mutations are G:C-->A transversions--a significantly greater proportion than is found in sporadic tumors or in tumors associated with familial adenomatous polyposis. Analysis of the human homolog of mutY, MYH, showed that the siblings were compound heterozygotes for the nonconservative missense variants Tyr165Cys and Gly382Asp. These mutations affect residues that are conserved in mutY of E. coli (Tyr82 and Gly253). Tyrosine 82 is located in the pseudo-helix-hairpin-helix (HhH) motif and is predicted to function in mismatch specificity. Assays of adenine glycosylase activity of the Tyr82Cys and Gly253Asp mutant proteins with 8-oxoG:A and G:A substrates show that their activity is reduced significantly. Our findings link the inherited variants in MYH to the pattern of somatic APC mutation in family N and implicate defective base excision repair in predisposition to tumors in humans. |
|---|---|
| Mesh-Begriff(e) | Amino Acid Sequence ; Animals ; Base Sequence ; Colorectal Neoplasms/enzymology ; Colorectal Neoplasms/genetics ; Conserved Sequence ; DNA Glycosylases ; DNA Repair/genetics ; DNA, Neoplasm/genetics ; Evolution, Molecular ; Female ; Genes, APC ; Genetic Variation ; Humans ; Male ; Molecular Sequence Data ; N-Glycosyl Hydrolases/genetics ; Pedigree ; Point Mutation ; Sequence Homology, Amino Acid ; Sequence Homology, Nucleic Acid |
| Chemische Substanzen | DNA, Neoplasm ; DNA Glycosylases (EC 3.2.2.-) ; N-Glycosyl Hydrolases (EC 3.2.2.-) ; mutY adenine glycosylase (EC 3.2.2.-) |
| Sprache | Englisch |
| Erscheinungsdatum | 2002-02 |
| Erscheinungsland | United States |
| Dokumenttyp | Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S. |
| ZDB-ID | 1108734-1 |
| ISSN | 1546-1718 ; 1061-4036 |
| ISSN (online) | 1546-1718 |
| ISSN | 1061-4036 |
| DOI | 10.1038/ng828 |
| Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
| Zs.A 3613: Hefte anzeigen | Standort: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG) |
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| Zs.MG 46: Hefte anzeigen |
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Chicago medical examiner
2023 Band 12, Heft 2, Seite(n) 98–99
| Sprache | Englisch |
|---|---|
| Erscheinungsdatum | 2023-07-20 |
| Erscheinungsland | United States |
| Dokumenttyp | Journal Article |
| Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
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Chicago medical examiner
2023 Band 11, Heft 11, Seite(n) 686–687
| Sprache | Englisch |
|---|---|
| Erscheinungsdatum | 2023-07-20 |
| Erscheinungsland | United States |
| Dokumenttyp | Journal Article |
| Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
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Chicago medical examiner
2023 Band 10, Heft 7, Seite(n) 389–390
| Sprache | Englisch |
|---|---|
| Erscheinungsdatum | 2023-07-20 |
| Erscheinungsland | United States |
| Dokumenttyp | Journal Article |
| Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
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Chicago medical examiner
2023 Band 12, Heft 8, Seite(n) 471–472
| Sprache | Englisch |
|---|---|
| Erscheinungsdatum | 2023-07-20 |
| Erscheinungsland | United States |
| Dokumenttyp | Journal Article |
| Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
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The Journal of clinical investigation
1982 Band 69, Heft 4, Seite(n) 1026–1038
Abstract: ... T lymphocytes. T cells were prepared by E-rosetting after petri-dish removal of adherent cells and cultured ... for 2-7 d in the presence of SLE sera or normal human sera. Cultured T cells were washed and sonicated ... ELISA) methods. T cells cultured with 27 of 39 SLE sera showed marked increments of associated ...
| Abstract | Systemic lupus erythematosus (SLE) is an autoimmune disease with multiple immune disturbances whose mechanisms remain unclear. We examined the interaction of antilymphocyte antibodies with cultured normal T lymphocytes. T cells were prepared by E-rosetting after petri-dish removal of adherent cells and cultured for 2-7 d in the presence of SLE sera or normal human sera. Cultured T cells were washed and sonicated, and the amount of cell-associated IgG was quantitated by radioimmunoassay or enzyme-linked immunoassay (ELISA) methods. T cells cultured with 27 of 39 SLE sera showed marked increments of associated immunoglobulin G (IgG) although this was not observed with sera from mixed connective tissue disease patients containing high titers of ribonucleoprotein antibody or normal donors. The effective factors for IgG association in SLE sera were absorbed with normal peripheral blood lymphocytes or T cells. Anti-T cell IgG cytotoxic activity strongly correlated with T cell IgG association (P less than 0.01). T cell-associated IgG was not removed by stripping of cell membrane IgG from living cells by acid buffer treatment; indirect immunofluorescence of cells fixed after 2-4 d of culture revealed cytoplasmic IgG staining. IgG anti-T cell antibodies appeared to associate inside the cell membrane or to penetrate into the cytoplasm of cells. T cell Fc receptor blocking by heat-aggregated IgG or anti-beta 2-microglobulin antibody did not alter IgG cell association. Since pepsin-digested SLE sera showed no T cell association activity, whole IgG antibody molecules appeared to be necessary for interaction with cultured T cells. In addition, reduction and alkylation of active SLE sera completely nullified T cell reactivity. When normal T cells were cultured with SLE sera showing marked IgG T cell association, viability of cultured T cells decreased rapidly after 4 d, which suggests that IgG anti-T cell antibodies were associated with cell destruction. IgG cell-associating antilymphocyte antibodies present in SLE sera may cause T cell disturbances in vivo and may be related to the lymphocytopenia present in SLE patients. |
|---|---|
| Mesh-Begriff(e) | Adult ; Antigen-Antibody Reactions ; Autoantibodies/immunology ; Cell Survival ; Cytotoxicity, Immunologic ; Female ; Humans ; Immunoglobulin G/immunology ; Lupus Erythematosus, Systemic/immunology ; Male ; T-Lymphocytes/immunology |
| Chemische Substanzen | Autoantibodies ; Immunoglobulin G |
| Sprache | Englisch |
| Erscheinungsdatum | 1982-04 |
| Erscheinungsland | United States |
| Dokumenttyp | Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S. |
| ZDB-ID | 3067-3 |
| ISSN | 1558-8238 ; 0021-9738 |
| ISSN (online) | 1558-8238 |
| ISSN | 0021-9738 |
| DOI | 10.1172/jci110506 |
| Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
| Ua VI Zs.184: Hefte anzeigen | Standort: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG) |
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