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| Registros recuperados: 6.548 | |
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| Campos,Mireille Guimarães Vaz de; Chauffaille,Maria de Lourdes L. Ferrari; Rodrigues,Celso Arrais; Krum,Everson A.; Yamamoto,Mihoko. |
| The Philadelphia chromosome is observed in 5% of pediatric acute lymphocytic leukemia (ALL) and in 25% to 50% of adult ALL cases, and is associated with poor prognosis. Double Ph in a hyperdiploid karyotype is common in chronic myeloid leukemia (CML), but rarely found in ALL. We report here the case of a girl diagnosed with ALL at 7 years of age. After treatment with the pediatric protocol BFM 83 for ALL, she stayed in continuous complete remission for nine years. At age 19, she was re-admitted with a white blood cell count of 6.8 x 10(9)/L with 3% blasts, and a platelet count of 65 x 109/L. Bone marrow aspirate showed 92.6% lymphoid blast cells, and chromosome analysis after G-banding revealed the karyotype... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Relapsed acute lymphocytic leukemia; Double Philadelphia chromosome. |
| Ano: 2003 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572003000300006 |
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| Martins,Fábio Tadeu Arrojo; Ramos,Berenice Dias; Sartorato,Edi Lúcia. |
| Abstract HDR syndrome is a rare autosomal dominant disorder caused by mutations in the GATA3 gene and characterized by hypoparathyroidism, sensorineural deafness and renal abnormalities. Here we report a Brazilian family, from which the proband, his mother and his grandfather were diagnosed with bilateral sensorineural hearing loss. Molecular screening of the GJB2, GJB6 and MTRNR1 genes in the proband showed no alterations; however, whole exome sequencing detected a heterozygous mutation, c.1099C > T (p.Arg367*), in the GATA3 gene. Segregation analyses showed that the mother also had the mutation, but not the grandparents, hence indicating a different hearing impairment type for the grandfather. Paternity test of the mother of the proband confirmed that... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: HDR syndrome; Hypoparathyroidism; Deafness; Renal abnormalities; Whole exome sequencing. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500794 |
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| Bernd-Souza,R.B.; Sa,M.F. Grossi de; Ellis,D.D.; McCown,B.H.. |
| The effects of an animal RNase fused to the late cotton pollen-specific promoter G9 in a plant system were investigated. Expression of the chimeric genes G9-uidA and G9-RNase in tobacco plants showed that the 1.2-kb promoter fragment of the G9 gene was sufficient to maintain tissue and temporal specificity in a heterologous system. GUS (beta-glucuronidase) expression was detected only in pollen from anther stage 6 through anthesis, with maximal GUS activity in pollen from stage 10 anthers. Investigating the effects of the rat RNase on pollen viability at stage 10, we found that pollen viability was reduced from 79 to 8% and from 89 to 40%, in pollen germination and fluoresceine diacetate assays, respectively, in one G9-RNase transgenic line, suggesting a... |
| Tipo: Info:eu-repo/semantics/article |
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| Ano: 2000 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000200032 |
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| Diesel,Jose Francisco; Ortiz,Mauro F.; Marinotti,Osvaldo; Vasconcelos,Ana Tereza R.; Loreto,Elgion L. S.. |
| Abstract The mobilome, portion of the genome composed of transposable elements (TEs), of Anopheles darlingi was described together with the genome of this species. Here, this mobilome was revised using similarity and de novo search approaches. A total of 5.6% of the A. darlingi genome is derived of TEs. Class I gypsy and copia were the most abundant superfamilies, corresponding to 22.36% of the mobilome. Non-LTR elements of the R1 and Jockey superfamilies account for 11% of the TEs. Among Class II TEs, the mariner superfamily is the most abundant (16.01%). Approximately 87% of the A. darlingi mobilome consist of short, truncated and/or degenerated copies of TEs. Only three retrotransposons, two belonging to gypsy and one to copia superfamilies, are... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Transposable elements; Transposons; Mosquitoes; Evolvability.. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000100125 |
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| Tada,Susely F.S.; Souza,Anete P.. |
| The potato (Solanum tuberosum L.) mitochondrial cox3/sdh4/pseudo-cox2 gene cluster has previously been identified by heterologous hybridization using a Marchantia polymorpha sdh4 probe. In our present study we used Southern blotting using sdh4 and cox2 probes to show that the sdh4 and cox2 genes are clustered in the mitochondria of potato, soybean and pea. Northern blotting revealed cotranscription of sdh4 and cox2 in potato but not in cauliflower, indicating that these genes are not clustered in cauliflower. A putative recombination point was detected downstream of the cox2 pseudogene (pseudo-cox2) in potato mitochondrial DNA (mtDNA). This sequence corresponds to a 32 bp sequence which appears to be well-conserved and is adjacent to the terminals of some... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Mitochondrial DNA; Rearrangement; Plants; Solanum tuberosum; Cox2. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000100017 |
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| Moreira,Camila Nascimento; Di-Nizo,Camilla Bruno; Silva,Maria José de Jesus; Yonenaga-Yassuda,Yatiyo; Ventura,Karen. |
| Pseudoryzomys simplex, the false rice rat, is a monotypic genus of the Oryzomyini tribe (Sigmodontinae) distributed in part of Bolivia, Paraguay, Argentina and Brazil. Its diploid number has been described as 56 acrocentric chromosomes decreasing in size and no karyotype figure has been depicted. Herein, we present karyotypic data on P. simplex, including chromosome banding and molecular fluorescent in situ hybridization using telomeric sequences and the whole X-chromosome of its sister clade Holochilus brasiliensis (HBR) as probes. A case of remarkable autosomal heteromorphism due to the presence of a whole heterochromatic arm leading to the variability of FN is reported, as well as the occurrence of regions of homology between the X and Y chromosomes... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Cytogenetics; Fluorescent in situ hybridization; Heterochromatin; Oryzomyini. |
| Ano: 2013 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000200010 |
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| Santelli,Roberto V.; Siviero,Fábio. |
| A search in the sugarcane expressed sequence tag (SUCEST) database for homologues of plant genes involved in photo-sensory mechanisms was carried out using the basic local alignment tool (BLAST). Our results shown that known elements (phytochromes, cryptochromes and phototoprin) present in Arabidopsis and other higher plants were detected with low e-values. We also searched for proteins interacting with photoreceptors in primary or downstream signaling events. One putative homologue for a protein postulated to be a primary element in phytochrome signaling pathways was identified, as were other candidates for downstream interacting factors. |
| Tipo: Info:eu-repo/semantics/article |
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| Ano: 2001 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572001000100008 |
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| Bacci Jr.,M.; Miranda,V.F.O.; Martins,V.G.; Figueira,A.V.O.; Lemos,M.V.; Pereira,J.O.; Marino,C.L.. |
| To determine the phylogenetic relationship between sugarcane cultivars and other members of the Saccharinae subtribe, we identified the fast evolving ITS1-5.8S-ITS2 (ITS = internal transcribed spacer; 5.8S = 5.8S ribosomal DNA) region of the sugarcane genome in the Sugarcane Expressed Sequence Tag (SUCEST) genome project database. Parsimony analysis utilizing this region and homologs belonging to the 23 closely related Andropogoneae currently deposited in the GenBank database has shown sugarcane as the sister group of Saccharum sinense. However, because there are few parsimony-informative characters and high homoplasy in the ITS1-5.8S-ITS2 region we were not able to determine with confidence the phylogenetic relationship between sugarcane and some of the... |
| Tipo: Info:eu-repo/semantics/article |
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| Ano: 2001 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572001000100023 |
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| Torres,Giovana A.; Parentoni,Sidney N.; Lopes,Maurício A.; Paiva,Edilson. |
| The objective of this study was to identify restriction fragment length polymorphism (RFLP) markers linked to QTLs that control aluminum (Al) tolerance in maize. The strategy used was bulked segregant analysis (BSA) and the genetic material utilized was an F2 population derived from a cross between the Al-susceptible inbred line L53 and Al-tolerant inbred line L1327. Both lines were developed at the National Maize and Sorghum Research Center - CNPMS/EMBRAPA. The F2 population of 1554 individuals was evaluated in a nutrient solution containing a toxic concentration of Al and relative seminal root length (RSRL) was used as a phenotypic measure of tolerance. The RSRL frequency distribution was continuous, but skewed towards Al-susceptible individuals.... |
| Tipo: Info:eu-repo/semantics/article |
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| Ano: 1997 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-84551997000300017 |
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| Rodrigues,Elisete Pains; Torres,Adalgisa Ribeiro; Batista,Jesiane Stefânia da Silva; Huergo,Luciano; Hungria,Mariangela. |
| Sample preparation is a critical step in two-dimensional gel electrophoresis (2-DE) of plant tissues. Here we describe a phenol/SDS procedure that, although greatly simplified, produced well-resolved and reproducible 2-DE profiles of protein extracts from soybean [Glycine max (L.) Merril] roots. Extractions were made in three replicates using both the original and simplified procedure. To evaluate the quality of the extracted proteins, ten spots were randomly selected and identified by mass spectrometry (MS). The 2-DE gels were equally well resolved, with no streaks or smears, and no significant differences were observed in protein yield, reproducibility, resolution or number of spots. Mass spectra of the ten selected spots were compared with database... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: 2-DE; Protein extraction; Proteomics; Soybean roots; Symbiosis. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000200016 |
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| Baracho,Marta dos Santos; Baracho,Ivanhoé Rodrigues. |
| Several tests are available for detecting mutagenic and recombinogenic products in fungi. Since fungi are eukaryotic, these tests permit the detection of substances that produce chromosomal aberrations, or that are recombinogenic. We have developed a new method for testing substances that affect fungal stability using a duplication strain of Aspergillus nidulans and circular statistics for data analysis. The fungus was inoculated on the center of Petri dishes and the substance to be tested was applied to a defined area of the dish. Position of resulting sectors was measured by an angle and the data were analyzed by the Rayleigh test. Extensive testing with different compounds showed this method to be rapid and efficient for screening recombinogenic... |
| Tipo: Info:eu-repo/semantics/article |
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| Ano: 2000 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000200042 |
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| Moraes-Barros,Nadia de; Morgante,João Stenghel. |
| Museum collections have been widely used as sources of biological samples for molecular biology studies and there are several methodologies and techniques to obtain and analyze DNA from tissues archived in museums, but most of these protocols have been developed for a specific tissue or are commercial kits. We present a simple protocol for extracting and amplifying DNA segments from sloth museum specimens. With this simple protocol we analyzed DNA fragments from 64% of 64 skin samples from three-toed sloths (Bradypus variegatus and Bradypus tridactylus) archived in three different museums: 43 samples from the University of São Paulo Museum of Zoology (Museu de Zoologia da Universidade de São Paulo, MUZUSP) São Paulo, São Paulo, Brazil; 18 samples from the... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Bradypus; DNA; Dried skins; Museum specimens. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000600024 |
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| Registros recuperados: 6.548 | |
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