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| Registros recuperados: 2.463 | |
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| Abath Neto,Osorio; Martins,Cristiane de Araújo; Carvalho,Mary; Chadi,Gerson; Seitz,Katia Werneck; Oliveira,Acary Souza Bulle; Reed,Umbertina Conti; Laporte,Jocelyn; Zanoteli,Edmar. |
| Centronuclear myopathy (CNM) is a rare congenital muscle disease characterized by fibers with prominent centralized nuclei in muscle biopsies. The disease is clinically heterogeneous, ranging from severe neonatal hypotonic phenotypes to adult-onset mild muscle weakness, and can have multiple modes of inheritance in association with various genes, including MTM1, DNM2, BIN1 and RYR1. Here we analyzed 18 sporadic patients with clinical and histological diagnosis of CNM and sequenced the DNM2 gene, which codes for the dynamin 2 protein. We found DNM2 missense mutations in two patients, both in exon 8, one known (p.E368K) and one novel (p.F372C), which is found in a position of presumed pathogenicity and appeared de novo. The patients had similar phenotypes... |
| Tipo: Info:eu-repo/semantics/report |
Palavras-chave: Centronuclear myopathy; DNM2; Dynamin 2; Congenital myopathy. |
| Ano: 2015 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000200147 |
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| Abildinova,Gulshara; Abdrakhmanova,Zhanara; Tuchinsky,Helena; Nesher,Elimelech; Pinhasov,Albert; Raskin,Leon. |
| Abstract The routine detection of large and medium copy number variants (CNVs) is well established. Hemizygotic deletions or duplications in the large Duchenne muscular dystrophy DMD gene responsible for Duchenne and Becker muscular dystrophies are routinely identified using multiple ligation probe amplification and array-based comparative genomic hybridization. These methods only map deleted or duplicated exons, without providing the exact location of breakpoints. Commonly used methods for the detection of CNV breakpoints include long-range PCR and primer walking, their success being limited by the deletion size, GC content and presence of DNA repeats. Here, we present a strategy for detecting the breakpoints of medium and large CNVs regardless of their... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Deletion boundaries; Deletion breakpoints; DMD gene; Duchenne and Becker muscular dystrophies; Hemizygous deletions; Heterozygous deletions. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000300365 |
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| Abreu,Aluana Gonçalves; Priolli,Regina Helena Geribello; Azevedo-Filho,Joaquim Adelino; Nucci,Stella Maris; Zucchi,Maria Imaculada; Coelho,Ricardo Marques; Colombo,Carlos Augusto. |
| Acrocomia aculeata is a perennial, fruit-producing palm tree, native to tropical forests. Its fruits have spurred interest because of their significant potential for use in the cosmetic industry and as feedstock for biofuel. In the present study, the genetic structure and mating system in Acrocomia aculeata were analyzed, using eight nuclear microsatellite loci and samples from São Paulo and Minas Gerais states, Brazil. By means of Bayesian analysis, these populations were clustered into two or three groups. A high multilocus outcrossing rate suggests that outcrosses were predominant, although a certain degree of biparental inbreeding also occurred. Thus, although monoecious and self-compatible, there is every indication that A. aculeata bears a mixed... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: SSR; Mating system. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000100016 |
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| Abreu,Flávia Barbosa; Silva,Derly José Henriques da; Cruz,Cosme Damião; Mizubuti,Eduardo Seiti Gomide. |
| In Brazil, no commercial tomato (Solanum lycopersicum L. formerly Lycopersicon esculentum Mill.) varieties are available which are resistant to the late blight, one of the most important tomato diseases, produced by the phytopathogenic oomycete Phytophthora infestans. The wild tomato (Solanum habrochaites Knapp & Spooner, formerly Lycopersicon hirsutum Dunal) shows resistance to P. infestans, because of which we investigated an interspecific cross between S. lycopersicum cv. Santa Clara and S. habrochaites accession BGH 6902 maintained at the Horticultural Germplasm Bank at the Federal University of Viçosa (Banco de Germoplasma de Horticultura (BGH), Universidade Federal de Viçosa (UFV), Viçosa, Minas Gerais, Brazil) The genitors, F1, F2, BC1 and... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Late blight; Lycopersicon esculentum; Lycopersicon hirsutum; Solanum lycopersicum; Solanum habrochaites. |
| Ano: 2008 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000300016 |
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| Abreu,Flávia Barbosa; Silva,Derly José Henriques da; Marim,Bruno Garcia; Carneiro,Pedro Crescêncio Souza; Juhasz,Ana Cristina Pinto; De Luca,Carina A.C.; Valente,Reginaldo Fialho; Guimarães,Marcelo Almeida. |
| This study presents the minimum number and the best combination of tomato harvests needed to compare tomato accessions from germplasm banks. Number and weight of fruit in tomato plants are important as auxiliary traits in the evaluation of germplasm banks and should be studied simultaneously with other desirable characteristics such as pest and disease resistance, improved flavor and early production. Brazilian tomato breeding programs should consider not only the number of fruit but also fruit size because Brazilian consumers value fruit that are homogeneous, large and heavy. Our experiment was a randomized block design with three replicates of 32 tomato accessions from the Vegetable Germplasm Bank (Banco de Germoplasma de Hortaliças) at the Federal... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Lycopersicon esculentum; Genetic resources; Principal components; Repeatability coefficient; Determination coefficient. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000100021 |
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| Abreu,Marcia Matos de; Pereira,Luiz Henrique Garcia; Vila,Vilma Barretto; Foresti,Fausto; Oliveira,Claudio. |
| Catfishes of the genus Pseudoplatystoma are very important species due to both their high commercial value and their ecological role as voracious predators. They undertake lengthy migratory movements during their life-cycle, this including reproductive migration which occurs from October to December in the rainy season. In the present study, seven microsatellite loci were analyzed to access genetic variability in two samples of P. reticulatum from the Upper Paraguay Basin. The loci were highly polymorphic (mean = 7.28). According to all analysis, the two samples of P. reticulatum revealed pronounced genetic differentiation. Fst value was 0.2290, Rst value 0.1067 and AMOVA 22.90% (Fst) and 10.67% (Rst), all being highly significant (p < 0.001). The... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Fish; Population genetics; Microsatellite; Homing; Population structure. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000400032 |
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| Acosta,A.X.; Peres,L.C.; Mazzucatto,L.F.; Pina-Neto,J.M.. |
| Triploidy is common in human pregnancies. It is detected in 1 to 2% of clinically recognized pregnancies and in approximately 15 to 20% of spontaneous abortions produced by chromosome anomalies. We report a premature liveborn girl (30 weeks of gestation) with microcephaly, facial dysmorphism and skeletal abnormalities who died at one day of age due to respiratory failure. The placenta showed partial hydatiform mole. Autopsy revealed no internal malformations. Cytogenetic analysis of 100 metaphases obtained from renal tissue culture revealed a 68,XX[73]/69,XXX[27] karyotype. To our knowledge this is the first report in the literature of 68,XX[73]/69,XXX[27] mosaicism in a liveborn infant. |
| Tipo: Info:eu-repo/semantics/article |
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| Ano: 1998 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000300002 |
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| Acuña,M.; Eaton,L.. |
| In order to investigate the association between ABO blood groups and serum haptoglobin (Hp), we typed Hp and ABO blood groups in 288 children, who were selected at random among those who began their primary school in 1973 in the Northern Metropolitan area of Santiago, Chile. This region has an Amerindian component of 40% and a Caucasian component (principally Spanish) of 60%. Our results are in contrast with previous studies which have reported that Hp*1 varied among ABO groups in the following manner, O < A < B < AB, and where Hp*1 was significantly lower in group O individuals. In the present study, the order was A < O » B < AB. We found more A and less O individuals with allele Hp*2 and genotype Hp 2-2, and more Hp*1... |
| Tipo: Info:eu-repo/semantics/article |
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| Ano: 1998 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000400004 |
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| Ada,Ahmet Oguz; Yilmazer,Meltem; Suzen,Sinan; Demiroglu,Canan; Demirbag,Ali Eba; Efe,Sibel; Alemdar,Yavuz; Burgaz,Sema; Iscan,Mumtaz. |
| Genetic polymorphisms of xenobiotic metabolizing enzymes have been associated with cancer risk. We evaluated the influences of genetic polymorphisms of polycyclic aromatic hydrocarbon (PAH) metabolizing enzymes on urinary 1-hydroxypyrene (1-OHP) excretion in Turkish coke oven workers. Urinary 1-OHP was analyzed by HPLC after enzymatic hydrolysis. Lymphocyte DNA was used for PCR-based genotyping of cytochrome P450 (CYP) polymorphisms (CYP1A1 and CYP1B1) and glutathione S-transferases (GST) polymorphisms (GSTM1, GSTT1 and GSTP1). The mean urinary 1-OHP levels of coke oven workers were significantly higher than that of controls. No significant difference was detected in the mean urinary 1-OHP levels of smokers and non-smokers either for coke oven workers or... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Polycyclic aromatic hydrocarbons; 1-hydroxypyrene; Coke oven workers; Cytochrome P450s; Glutathione S-transferases. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000400002 |
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| Adad,Lúcia Maria de Miranda; Andrade,Heloísa Helena Rodrigues de; Kvitko,Kátia; Lehmann,Mauricio; Cavalcante,Ana Amélia de Carvalho Melo; Dihl,Rafael Rodrigues. |
| Farm workers are often exposed to pesticides, which are products belonging to a specific chemical group that affects the health of agricultural workers and is mostly recognized as genotoxic and carcinogenic. The exposure of workers from Piauí, Brazil, to these hazardous chemicals was assessed and cytogenetic alterations were evaluated using the buccal micronucleus assay, hematological and lipid parameters, butyrylcholinesterase (BChE) activity and genetic polymorphisms of enzymes involved in the metabolism of pesticides, such as PON1, as well as of the DNA repair system (OGG1, XRCC1 and XRCC4). Two groups of farm workers exposed to different types of pesticides were evaluated and compared to matched non-exposed control groups. A significant increase was... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Human monitoring; Buccal micronucleus test; Pesticides; PON 1; DNA repair genes. |
| Ano: 2015 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000300308 |
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| Adamowski,Eleniza de Victor; Pagliarini,Maria Suely; Bonato,Andréa Beatriz Mendes; Batista,Luiz Alberto Rocha; Valls,José Francisco Montenegro. |
| Chromosome number and meiotic behavior were evaluated in 36 Brazilian accessions of the grass Paspalum (which had never previously been analyzed) to determinate which accessions might be useful in interspecific hybridizations. The analysis showed that one accession of Paspalum coryphaeum was diploid (2n = 2x = 20) and one accession of Paspalum conspersum hexaploid (2n = 6x = 60), the remaining 34 accessions being tetraploid (2n = 4x = 40). The pairing configuration was typical for the ploidy level i.e. in the diploid, chromosomes paired as 10 bivalents, in tetraploids as bi-, tri- and quadrivalents, and in hexaploid as 30 bivalents. A low frequency of meiotic abnormalities (less than 10%) was observed in the diploid, hexaploid and some tetraploid... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Paspalum; Forage grass; Chromosome numbers; Meiotic behavior. |
| Ano: 2005 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000500020 |
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| Adorno,Elisângela Vitória; Zanette,Ângela; Lyra,Isa; Seixas,Magda Oliveira; Reis,Mitermayer Galvão; Gonçalves,Marilda Souza. |
| Beta S-globin gene (βS-globin) haplotypes, markers for severe sickle cell anemia (SCA), and the alpha-thalassemia 2 gene 3.7 kb deletion (-α2(3.7 kb) thal) along with demographic and clinical data were investigated in SCA outpatients (n = 125, 63 female and 62 male) in the Brazilian state of Bahia, which has a high prevalence SCA. PCR-RFLP showed that the Central African Republic/Benin (CAR/BEN, 51.2%) haplotype was most frequent, followed by the Benin/Benin (Ben/Ben, 28.8%). At least one CAR haplotype was present in every outpatient with a history of cerebrovascular accident. The Cameroon (Cam), Senegal (Sen) and Arab-India haplotypes occurred in small numbers, as did atypical haplotypes. Fetal hemoglobin (HbF, %) was unevenly distributed. Compared to... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Alpha-thalassemia 2 gene 3.7 kb deletion (-α23.7 kb thal); ΒS-globin gene haplotypes; Fetal hemoglobin. |
| Ano: 2008 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000400003 |
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| Aggarwal,Rashmi; Kulshreshtha,Deepika; Sharma,Sapna; Singh,Vaibhav K.; Manjunatha,Channappa; Bhardwaj,Subhash C.; Saharan,Mahender S.. |
| Abstract Stripe rust caused by Puccinia striiformis f. sp. tritici (Pst) is one of the most devastating diseases of wheat (Triticum spp.) worldwide. Indian isolates were characterised based on their phenotypic reaction on differential hosts carrying different Yr genes. Based on virulence/avirulence structure, isolates were characterised into ten different pathotypes viz. 70S0-2, 67S64, 70S4, 66S0, 70S64, 66S64-1, 38S102, 47S102, 46S119, and 78S84. These Indian pathotypes of P. striiformis f. sp. tritici and 38 pathotypes of other rust species (P. graminis tritici and P. triticina) were used in this study to analyze their molecular phylogenetic relationship. The nucleotides of rDNA-ITS, partial β-tubulin and ketopantoate reductase genes of all the... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Wheat; Stripe rust; Virulence; Diversity; Phylogeny. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500834 |
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| Agnez-Lima,Lucymara F.; Medeiros,Sílvia R. Batistuzzo de; Maggi,Bruno S.; Quaresma,Giovanna A.S.. |
| DNA damage can be induced by a large number of physical and chemical agents from the environment as well as compounds produced by cellular metabolism. This type of damage can interfere with cellular processes such as replication and transcription, resulting in cell death and/or mutations. The low frequency of mutagenesis in cells is due to the presence of enzymatic pathways which repair damaged DNA. Several DNA repair genes (mainly from bacteria, yeasts and mammals) have been cloned and their products characterized. The high conservation, especially in eukaryotes, of the majority of genes related to DNA repair argues for their importance in the maintenance of life on earth. In plants, our understanding of DNA repair pathways is still very poor, the first... |
| Tipo: Info:eu-repo/semantics/article |
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| Ano: 2001 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572001000100017 |
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| Registros recuperados: 2.463 | |
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