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  1 / 2067 MEDLINE  
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PMID:28456808
Autor:Batista RL; Rodrigues AS; Nishi MY; Feitosa ACR; Gomes NLRA; Junior JAF; Domenice S; Costa EMF; de Mendonça BB
Dirección:Unidade de Endocrinologia do Desenvolvimento, Disciplina de Endocrinologia e Metabologia do Hospital das Clínicas, Laboratório de Hormônios e Genética Molecular (LIM/42), Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.
Título:Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47,XXY Karyotype.
Fuente:Sex Dev; 11(2):78-81, 2017.
ISSN:1661-5433
País de publicación:Switzerland
Idioma:eng
Resumen:There are only 2 patients with 47,XXY karyotype and androgen receptor (AR) gene mutation reported in the literature, and both are diagnosed as complete androgen insensitivity syndrome (CAIS). We report a 22-year-old female with 47,XXY karyotype and atypical external genitalia. Sequencing of AR revealed the heterozygous p.Asn849Lys*32 mutation, and extensive X chromosome microsatellite analysis showed homozygosity for Xp and heterozygosity for Xq, suggesting partial X maternal isodisomy. Partial androgen insensitivity syndrome (PAIS) developed in this case, probably because of the presence of the heterozygous AR mutation and random X- inactivation of the healthy allele. This is the first report of a female patient with 47,XXY karyotype and PAIS phenotype.
Tipo de publicación:CASE REPORTS; JOURNAL ARTICLE
Nombre de substancia:0 (AR protein, human); 0 (Codon, Nonsense); 0 (Receptors, Androgen)


  2 / 2067 MEDLINE  
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PMID:28454693
Autor:Reiter JL; Drendel HM; Chakraborty S; Schellinger MM; Lee MJ; Mor G
Dirección:Department of Obstetrics and Gynecology, Indiana University School of Medicine, 550 N. University Ave, UH 2440, Indianapolis, IN 46202, USA. Electronic address: jireiter@iu.edu.
Título:Cytogenetic features of human trophoblast cell lines SWAN-71 and 3A-subE.
Fuente:Placenta; 52:17-20, 2017 Apr.
ISSN:1532-3102
País de publicación:Netherlands
Idioma:eng
Resumen:Immortalization of primary cells with telomerase is thought to maintain normal phenotypic properties and avoid chromosomal abnormalities and other cancer-associated changes that occur following simian virus 40 tumor antigen (SV40 Tag) induced immortalization. However, we report that the human telomerase reverse transcriptase (hTERT)-immortalized SWAN-71 trophoblast cell line has a near pentaploid 103∼119,XXXX[cp20] karyotype. Additionally, DNA typing analysis indicated that SWAN-71 cells have acquired microsatellite instability. In comparison, the post-crisis SV40-transformed trophoblast cell line 3A-subE was hypertriploid 69∼81,XX[cp20]. Both cell lines contained multiple specific clonal rearrangements. These findings emphasize the need to monitor for genetic instability in hTERT-immortalized cells.
Tipo de publicación:JOURNAL ARTICLE


  3 / 2067 MEDLINE  
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PMID:28963084
Autor:Bryja J; Kostin D; Meheretu Y; Sumbera R; Bryjová A; Kasso M; Mikula O; Lavrenchenko LA
Dirección:Institute of Vertebrate Biology of the Czech Academy of Sciences, Brno, Czech Republic; Department of Botany and Zoology, Faculty of Science, Masaryk University, Brno, Czech Republic. Electronic address: bryja@brno.cas.cz.
Título:Reticulate Pleistocene evolution of Ethiopian rodent genus along remarkable altitudinal gradient.
Fuente:Mol Phylogenet Evol; 118:75-87, 2018 Jan.
ISSN:1095-9513
País de publicación:United States
Idioma:eng
Resumen:The Ethiopian highlands are the most extensive complex of mountainous habitats in Africa. The presence of the Great Rift Valley (GRV) and the striking elevational ecological gradients inhabited by recently radiated Ethiopian endemics, provide a wide spectrum of model situations for evolutionary studies. The extant species of endemic rodents, often markedly phenotypically differentiated, are expected to possess complex genetic features which evolved asa consequence of the interplay between geomorphology and past climatic changes. In this study, we used the largest available multi-locus genetic dataset of the murid genus Stenocephalemys (347 specimens from ca 40 localities across the known distributional area of all taxa) to investigate the relative importance of disruptive selection, temporary geographic isolation and introgression in their adaptive radiations in the Pleistocene. We confirmed the four main highly supported mitochondrial (mtDNA) clades that were proposed as four species in a previous pilot study: S. albipes is a sister species of S. griseicauda (both lineages are present on both sides of the GRV), while the second clade is formed by two Afro-alpine species, S. albocaudata (east of GRV) and the undescribed Stenocephalemys sp. A (west of GRV). There is a clear elevational gradient in the distribution of the Stenocephalemys taxa with two to three species present at different elevations of the same mountain range. Surprisingly, the nuclear species tree corresponded only a little to the mtDNA tree. Multispecies coalescent models based on six nuclear markers revealed the presence of six separate gene pools (i.e. candidate species), with different topology. Phylogenetic analysis, together with the geographic distribution of the genetic groups, suggests a complex reticulate evolution. We propose a scenario that involves (besides classical allopatric speciation) two cases of disruptive selection along the elevational ecological gradient, multiple crosses of GRV in dry and cold periods of the Pleistocene, followed by hybridization and mtDNA introgression on imperfect reproductive barriers. Spatial expansion of the currently most widespread "albipes" mtDNA clade was followed by population fragmentation, lineage sorting and again by hybridization and mtDNA introgression. Comparison of this genetic structure to other Ethiopian endemic taxa highlight the geographical areas of special conservation concern, where more detailed biodiversity studies should be carried out to prevent many endemic taxa from going extinct even before they are recognized.
Tipo de publicación:JOURNAL ARTICLE
Nombre de substancia:0 (DNA, Mitochondrial); 9035-37-4 (Cytochromes b)


  4 / 2067 MEDLINE  
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PMID:29193006
Autor:Rogers KA; Huang Y; Ruppert AS; Salem G; Stephens DM; Heerema NA; Andritsos LA; Awan FT; Byrd JC; Flynn JM; Maddocks KJ; Jones JA
Dirección:Division of Hematology, The Ohio State University, Columbus, OH, USA.
Título:A single-institution retrospective cohort study of first-line R-EPOCH chemoimmunotherapy for Richter syndrome demonstrating complex chronic lymphocytic leukaemia karyotype as an adverse prognostic factor.
Fuente:Br J Haematol; 180(2):259-266, 2018 01.
ISSN:1365-2141
País de publicación:England
Idioma:eng
Resumen:Richter Syndrome, an aggressive lymphoma occurring in patients with chronic lymphocytic leukaemia (CLL), has a generally poor prognosis and anthracycline-based chemoimmunotherapy regimens designed to treat de novo diffuse large B-cell lymphoma achieve modest clinical benefit. R-EPOCH (rituximab, etoposide, prednisone, vincristine, cyclophosphamide, doxorubicin) has demonstrated greater activity against aggressive B-cell histologies but has not been studied in Richter Syndrome. We conducted a retrospective cohort study of 46 Richter Syndrome patients treated with first-line R-EPOCH at our institution between 1 January 2006 and 31 May 2014. The median progression-free survival (PFS) was 3·5 months [95% confidence interval (CI): 2·0-7·6] and median overall survival (OS) was 5·9 months (95% CI: 3·2-10·3). Toxicity was high and 30% of patients died without progression or response. Patients with a complex CLL karyotype had significantly shorter PFS and OS (P = 0·005 and P = 0·002, respectively). Multivariable analysis identified complex CLL karyotype as the most significant predictor of decreased survival [Hazard ratio (HR) 2·72, 95% CI: 1·14-6·52, P = 0·025], adjusting for number of prior CLL treatments (P = 0·036). Richter Syndrome patients with complex CLL karyotype experience poor survival with R-EPOCH treatment and novel approaches are needed for these patients. In contrast, survival of patients without a complex CLL karyotype was similar to patients with de novo diffuse large B-cell lymphoma.
Tipo de publicación:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
Nombre de substancia:0 (Biomarkers, Tumor); 4F4X42SYQ6 (Rituximab); 5J49Q6B70F (Vincristine); 6PLQ3CP4P3 (Etoposide); 80168379AG (Doxorubicin); 8N3DW7272P (Cyclophosphamide); VB0R961HZT (Prednisone)


  5 / 2067 MEDLINE  
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PMID:28449711
Autor:Blázquez-Prunera A; Díez JM; Gajardo R; Grancha S
Dirección:Research and Development, Bioscience Industrial Group, Grifols, Parets del Vallès, Barcelona, Spain.
Título:Human mesenchymal stem cells maintain their phenotype, multipotentiality, and genetic stability when cultured using a defined xeno-free human plasma fraction.
Fuente:Stem Cell Res Ther; 8(1):103, 2017 Apr 27.
ISSN:1757-6512
País de publicación:England
Idioma:eng
Resumen:BACKGROUND: Mesenchymal stem cells (MSCs) show promising characteristics for their use in advanced therapy medicinal products. However, there are some unresolved concerns, such as the use of animal components for their expansion. In this study we assessed the suitability of a xeno-free supplement for cell culture (SCC) derived from human plasma, to culture and expand human MSCs (hMSCs) from different origins. Characteristics of viable cultured hMSCs such as genetic stability, phenotype and multipotentiality were qualitatively evaluated. METHODS: hMSCs from adipose tissue (AT), bone marrow (BM) and umbilical cord (UC) and supplier sources (commercial/non-commercial) were used. After hMSCs expansion in a xeno-free medium, classical hMSCs markers were studied by immunocytochemistry, and genetic stability was tested by classic karyotyping. The capacity of hMSCs to differentiate into adipogenic, osteogenic, and chondrogenic cells in differentiation media was assessed using different staining. Different lots of SCC were used to assure consistency between batches. RESULTS: All hMSCs tested maintained their morphology and adherence to plastic during their expansion, and preserved their genetic stability, phenotype and differentiation potential. No differences were observed when using different lots of SCC. Moreover, the proliferation rate, evaluated as population doubling time (PDT) of commercial BM and AT hMSCs, was higher in the xeno-free medium than in the control media provided by the suppliers of the cells (PDT of 4.6 for BM-hMSC and 6.4 for AT-hMSC in xeno-free medium, and 7.0 and 14.7 respectively in the commercial media). UC-hMSCs PDT was similar in all the media tested. When using non-commercial BM-hMSCs, PDT was lower in the xeno-free medium, but reverted to the control level with the addition of growth factors. CONCLUSIONS: SCC-containing medium can be a feasible xeno-free alternative to expand hMSCs for advanced therapies.
Tipo de publicación:JOURNAL ARTICLE
Nombre de substancia:0 (Culture Media); 0 (Intercellular Signaling Peptides and Proteins)


  6 / 2067 MEDLINE  
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PMID:29178649
Autor:Eggermann T; Oehl-Jaschkowitz B; Dicks S; Thomas W; Kanber D; Albrecht B; Begemann M; Kurth I; Beygo J; Buiting K
Dirección:Medical Faculty, Institute of Human Genetics, RWTH Aachen University, Aachen, Germany.
Título:The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism?
Fuente:Mol Genet Genomic Med; 5(6):668-677, 2017 11.
ISSN:2324-9269
País de publicación:United States
Idioma:eng
Resumen:BACKGROUND: Maternal uniparental disomy of chromosome 6 (upd(6)mat) is a rare finding and its clinical relevance is currently unclear. Based on clinical data from two new cases and patients from the literature, the pathogenetic significance of upd(6)mat is delineated. METHODS: Own cases were molecularly characterized for isodisomic uniparental regions on chromosome 6. For further cases with upd(6)mat, a literature search was conducted and genetic and clinical data were ascertained. RESULTS: Comparison of isodisomic regions between the new upd(6)mat cases and those from four reports did not reveal any common isodisomic region. Among the patients with available cytogenetic data, five had a normal karyotype in lymphocytes, whereas a trisomy 6 (mosaicism) was detected prenatally in four cases. A common clinical picture was not obvious in upd(6)mat, but intrauterine growth restriction (IUGR) and preterm delivery were frequent. CONCLUSION: A common upd(6)mat phenotype is not obvious, but placental dysfunction due to trisomy 6 mosaicism probably contributes to IUGR and preterm delivery. In fact, other clinical features observed in upd(6)mat patients might be caused by homozygosity of recessive mutations or by an undetected trisomy 6 cell line. Upd(6)mat itself is not associated with clinical features, and can rather be regarded as a biomarker. In case upd(6)mat is detected, the cause for the phenotype is identified indirectly, but the UPD is not the basic cause.
Tipo de publicación:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
Nombre de substancia:0 (Biomarkers); 0 (CUL7 protein, human); 0 (Cullin Proteins); EC 1.14.14.16 (CYP21A2 protein, human); EC 1.14.14.16 (Steroid 21-Hydroxylase)


  7 / 2067 MEDLINE  
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PMID:29360831
Autor:Knytl M; Kalous L; Rylková K; Choleva L; Merilä J; Ráb P
Dirección:Department of Cell Biology, Faculty of Science, Charles University, Prague, Czech Republic.
Título:Morphologically indistinguishable hybrid Carassius female with 156 chromosomes: A threat for the threatened crucian carp, C. carassius, L.
Fuente:PLoS One; 13(1):e0190924, 2018.
ISSN:1932-6203
País de publicación:United States
Idioma:eng
Resumen:The crucian carp Carassius carassius (Linnaeus, 1758), is native to many European freshwaters. Despite its wide distribution, the crucian carp is declining in both the number and sizes of populations across much of its range. Here we studied 30 individuals of a putative pure population from Helsinki, Finland. Despite clear external morphological features of C. carassius, an individual was of a higher ploidy level than the others. We therefore applied a set of molecular genetic (S7 nuclear and cytochrome b mitochondrial genes) and cytogenetic tools (sequential fluorescent 4', 6-diamidino-2-phenylindole [DAPI], Chromomycin A3 [CMA3], C-banding and in situ hybridization [FISH] with both 5S and 28S ribosomal DNA probes) to determine its origin. While all examined characteristics of a diploid representative male (CCAHe2Fi) clearly corresponded to those of C. carassius, a triploid individual (CCAHe1Fi) was more complex. Phylogenetic analysis revealed that the nuclear genome of CCAHe1Fi contained three haploid sets: two C. gibelio and one C. carassius. However the mitochondrial DNA was that of C. gibelio, demonstrating its hybrid origin. The FISH revealed three strong (more intensive) 5S rDNA loci, confirming the triploid status, and an additional 24 weak (less intensive) signals were observed in the chromosome complement of CCAHe1Fi. On the other hand, only two strong and 16 weak 5S rDNA signals were visible on the chromosomes of the CCAHe2Fi male. 28S rDNA FISH revealed four strong signals in both CCAHe1Fi and CCAHe2Fi individuals. CMA3 staining revealed four to six CMA3-positive bands of CCAHe1Fi, while that of diploids contained only two to four. The fact that a polyploid hybrid Carassius female with a strong invasive potential may share morphological characters typical for endangered C. carassius highlights a need to combine genetic investigations of Carassius cryptic diversity with conservation measures of C. carassius in Europe.
Tipo de publicación:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
Nombre de substancia:0 (Genetic Markers)


  8 / 2067 MEDLINE  
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PMID:29246535
Autor:Taboada X; Rey M; Bouza C; Viñas A
Dirección:Departamento de Zoología, Genética y Antropología Física, Facultad de Biología, CIBUS, Universidade de Santiago de Compostela, 15782 Santiago de Compostela, Spain.
Título:Cytogenomic analysis of several repetitive DNA elements in turbot (Scophthalmus maximus).
Fuente:Gene; 644:4-12, 2018 Feb 20.
ISSN:1879-0038
País de publicación:Netherlands
Idioma:eng
Resumen:Repetitive DNA plays a fundamental role in the organization, size and evolution of eukaryotic genomes. The sequencing of the turbot revealed a small and compact genome, as in all flatfish studied to date. The assembly of repetitive regions is still incomplete because it is difficult to correctly identify their position, number and array. The combination of classical cytogenetic techniques along with high quality sequencing is essential to increase the knowledge of the structure and composition of these sequences and, thus, of the structure and function of the whole genome. In this work, the in silico analysis of H1 histone, 5S rDNA, telomeric and Rex repetitive sequences, was compared to their chromosomal mapping by fluorescent in situ hybridization (FISH), providing a more comprehensive picture of these elements in the turbot genome. FISH assays confirmed the location of H1 in LG8; 5S rDNA in LG4 and LG6; telomeric sequences at the end of all chromosomes whereas Rex elements were dispersed along most chromosomes. The discrepancies found between both approaches could be related to the sequencing methodology applied in this species and also to the resolution limitations of the FISH technique. Turbot cytogenomic analyses have proven to add new chromosomal landmarks in the karyotype of this species, representing a powerful tool to investigate targeted genomic sequences or regions in the genetic and physical maps of this species.
Tipo de publicación:JOURNAL ARTICLE
Nombre de substancia:0 (RNA, Ribosomal, 5S); 9007-49-2 (DNA)


  9 / 2067 MEDLINE  
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PMID:29186714
Autor:Zhao HX; Jiang F; Zhu YJ; Wang L; Li K; Li Y; Wang XH; Li LS; Yao YQ
Dirección:Department of Obstetrics and Gynecology, Tangdu Hospital, The Fourth Military Medical University, Xi'an, China.
Título:Enhanced Immunological Tolerance by HLA-G1 from Neural Progenitor Cells (NPCs) Derived from Human Embryonic Stem Cells (hESCs).
Fuente:Cell Physiol Biochem; 44(4):1435-1444, 2017.
ISSN:1421-9778
País de publicación:Switzerland
Idioma:eng
Resumen:BACKGROUND: Despite the great potential of utilizing human embryonic stem cells (hESCs)-derived cells as cell source for transplantation, these cells were often rejected during engraftment by the immune system due to adaptive immune response. METHODS: We first evaluated HLA-G expression level in both hESCs and differentiated progenitor cells. After that, we generated modified hESC lines that over-express HLA-G1 using lentiviral infection with the construct contains both HLA-G1 and GFP tag. The lentivirus was first produced by co-transfecting HLA-G1 expressing lentiviral vector together with packaging vectors into packaging cell line 293T. Then the produced virus was used for the infection of selected hESC lines. We characterized the generated cell lines phenotype, including pluripotency and self-renewal abilities, as well as immune tolerance ability by mixed lymphocyte reaction (MLR) and cytotoxicity assays. RESULTS: Although the hESCs do not express high levels of HLA-G1, over-expression of HLA-G1 in hESCs still retains their stem cell characteristics as determined by retaining the expression levels of OCT4 and SOX2, two critical transcriptional factors for stem cell function. Furthermore, the HLA-G1 overexpressing hESCs retain the self-renewal and pluripotency characteristics of stem cells, which can differentiate into different types of cells, including pigment cells, smooth muscle cells, epithelia-like cells, and NPCs. After differentiation, the differentiated cells including NPCs retain the high levels of HLA-G1 protein. In comparison with conventional NPCs, these HLA-G1 positive NPCs have enhanced immune tolerance ability. CONCLUSIONS: Ectopic expression of HLA-G1, a non-classical major histocompatibility complex class I (MHC I) antigen that was originally discovered involving in engraftment tolerance during pregnancy, can enhance the immunological tolerance in differentiated neural progenitor cells (NPCs). Our study shows that stably overexpressing HLA-G1 in hESCs might be a feasible strategy for enhancing the engraftment of NPCs during transplantation.
Tipo de publicación:JOURNAL ARTICLE
Nombre de substancia:0 (HLA-G Antigens); 0 (Octamer Transcription Factor-3); 0 (POU5F1 protein, human); 0 (SOX2 protein, human); 0 (SOXB1 Transcription Factors)


  10 / 2067 MEDLINE  
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PMID:28906004
Autor:Douet-Guilbert N; Chauveau A; Gueganic N; Guillerm G; Tous C; Le Bris MJ; Basinko A; Morel F; Ugo V; De Braekeleer M
Dirección:Faculté de Médecine et des Sciences de la Santé, Université de Brest, Brest, France.
Título:Acute myeloid leukaemia (FAB AML-M4Eo) with cryptic insertion of cbfb resulting in cbfb-Myh11 fusion.
Fuente:Hematol Oncol; 35(3):385-389, 2017 Sep.
ISSN:1099-1069
País de publicación:England
Idioma:eng
Resumen:Inv(16)(p13q22) and t(16;16)(p13;q22) are cytogenetic hallmarks of acute myelomonoblastic leukaemia, most of them associated with abnormal bone marrow eosinophils [acute myeloid leukaemia French-American-British classification M4 with eosinophilia (FAB AML-M4Eo)] and a relatively favourable clinical course. They generate a 5'CBFB-3'MYH11 fusion gene. However, in a few cases, although RT-PCR identified a CBFB-MYH11 transcript, normal karyotype and/or fluorescent in situ hybridization (FISH) analyses using commercially available probes are found. We identified a 32-year-old woman with AML-M4Eo and normal karyotype and FISH results. Using two libraries of Bacterial Artificial Chromosome clones on 16p13 and 16q22, FISH analyses identified an insertion of 16q22 material in band 16p13, generating a CBFB-MYH11 type A transcript. Although very rare, insertions should be searched for in patients with discordant cytological and cytogenetic features because of the therapeutic consequences. Copyright © 2015 John Wiley & Sons, Ltd.
Tipo de publicación:CASE REPORTS; JOURNAL ARTICLE; REVIEW
Nombre de substancia:0 (CBFbeta-MYH11 fusion protein); 0 (Oncogene Proteins, Fusion)



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