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| Registros recuperados: 25 | |
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| Bachega,T.A.S.S.; Billerbeck,A.E.C.; Madureira,G.; Marcondes,J.A.M.; Longui,C.A.; Leite,M.V.; Arnhold,I.J.P.; Mendonça,B.B.. |
| We determined the frequency of large rearrangements and point mutations in 130 Brazilian patients with 21-hydroxylase deficiency and correlated genotype with phenotype. The frequency of CYP21 deletions was lower (4.4%) than in most of the previous series described, whereas the frequency of large gene conversions was similar to the frequency reported in the literature (6.6%). The most frequent point mutations were I2 splice (41.8% in salt wasting - SW), I172N (32.6% in simple virilizing - SV) and V281L (40.2% in the late onset form - LO). The frequency of the nine most common point mutations was similar to that reported for other countries. The 93 fully genotyped patients were classified into 3 mutation groups based on the degree of enzymatic activity... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: 21-hydroxylase deficiency; Congenital adrenal hyperplasia; Brazilian patients; CYP21 mutations; Genotype; Phenotype. |
| Ano: 2000 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2000001000011 |
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| Iorio,Mario; Vincenti,Donatella; Annunziata,Mario; Rullo,Rosario; Bonamassa,Raffaele; Di Luccia,Aldo; Pieragostini,Elisa. |
| On 398 river buffalo samples, randomly collected in distinct breeding areas of the Campania region, high-resolution analytical systems were used to identify both qualitative and quantitative variations of the Hb phenotype. Polyacrylamide gel isoelectric focusing and HPLC were used to determine the ratio between HBA1 and HBA2 globin chains; restriction endonuclease analysis was performed to assess whether quantitative variations in Hb bands were related to an unusual number of a-globin genes. In the two buffalo subpopulations, allele frequencies of the alpha and beta globin systems were calculated, and F statistics (FIS, FIT and FST) were estimated as parameters of genetic diversity. The results suggest that: i) as shown by RFLP analysis, only a couple of... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Phenotype; RFLP; Globin genes; Haplotype; Gene frequencies. |
| Ano: 2004 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000200007 |
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| Bastos, Marisa Silva; Rezende, Marcos Paulo Gonçalves; Souza, Julio Cesar; Leite, Maybe Carneiro Paula; Figueiredo, Gabriel Chaves. |
| Aimed to evaluate the coat and Quarter reproductive age used in equine production used in Vaquejada in micro regions of the Northeast. They used information from 264 horses, taken from the database of the Association of Quarter Horse Breeders (ABQM). Were collected individual information: date of birth, sex and animal fur, number of copies of disputed official Vaquejada, better and worse placed, cumulative score in ABQM, coats and dates of parents' birth (31), coats and birth dates mothers (257). There was a higher frequency (P<0.05) of births between the months of September and October. There was no age-specific greater use of stallions or matrix playback (P>0.05). There was no correlation (P>0.05) between the number of children and the stallion... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Equus caballus; Equestrian sport; Phenotype; Longevity; Reproduction.. |
| Ano: 2017 |
URL: http://e-revista.unioeste.br/index.php/scientiaagraria/article/view/13675 |
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| Peak,Emily; Hoffmann,Karl F. |
| Parasitic worms (helminths) within the Phyla Nematoda and Platyhelminthes are responsible for some of the most debilitating and chronic infectious diseases of human and animal populations across the globe. As no subunit vaccine for any parasitic helminth is close to being developed, the frontline strategy for intervention is administration of therapeutic, anthelmintic drugs. Worryingly, and unsurprising due to co-evolutionary mechanisms, many of these worms are developing resistance to the limited compound classes currently being used. This unfortunate reality has led to a renaissance in next generation anthelmintic discovery within both academic and industrial sectors. However, a major bottleneck in this process is the lack of quantitative methods for... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Helminth; Schistosome; Nematode; Viability; Phenotype. |
| Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652011000200024 |
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| Blay, Carole; Planes, Serge; Ky, Chin-long. |
| Grafting mantle tissue of a donor pearl oyster into the gonad of a recipient oyster results in the formation of a chimera, the pearl sac. The phenotypic variations of this chimera are hypothesized to be the result of interactions between the donor and recipient genomes. In this study, the heritability of phenotypic variation and its association with gene expression were investigated for the first time during P. margaritifera pearl production. Genetic variance was evaluated at different levels, 1) before the graft operation (expression in graft tissue), 2) after grafting (pearl sac tissue expression in chimera) and 3) on the product of the graft (pearl phenotype traits) based on controlled bi-parental crosses and the F1 generation. Donor related genetic... |
| Tipo: Text |
Palavras-chave: Gene expression; Heritability; Pearl oyster; Phenotype; Pinctada margaritifera. |
| Ano: 2018 |
URL: https://archimer.ifremer.fr/doc/00433/54505/55876.pdf |
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| Massucato, Luana Rainieri; Nakamura, Karina Kazue; Ruas, Paulo Mauricio; Zefa, Douglas Mariani; Silva, Derly José Henrique da; Gonçalves, Leandro Simões Azeredo. |
| The conservation of okra landraces [Abelmoschus esculentus (L.) Moench] in gene banks is essential for the success of their use in breeding programmes. This study evaluated the genetic diversity among okra landraces in Brazil based on morphoagronomic descriptors and AFLP markers. We studied 30 accessions of the vegetable gene bank of the Universidade Federal de Viçosa. To this end, 17 morphoagronomic descriptors and five combinations of AFLP primers were used. Genetic parameters were estimated for the quantitative traits and the accessions were grouped by Ward’s method, using the Gower’s and Jaccard’s distance measures, respectively, for the morphoagronomic and molecular data. Polymorphisms were observed for all qualitative traits, while the quantitative... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Genetic variability; Molecular markers; Phenotype; Bayesian analysis.; Recursos Genéticos. |
| Ano: 2019 |
URL: http://periodicos.uem.br/ojs/index.php/ActaSciAgron/article/view/43426 |
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| Polizzi,Angela; Tesse,Riccardina; Santostasi,Teresa; Diana,Anna; Manca,Antonio; Logrillo,Vito Paolo; Cazzato,Maria Domenica; Pantaleo,Maria Giuseppa; Armenio,Lucio. |
| Cystic fibrosis (CF) is caused by CFTR (cystic fibrosis transmembrane conductance regulator) gene mutations. We ascertained five patients with a novel complex CFTR allele, with two mutations, H939R and H949L, inherited in cis in the same exon of CFTR gene, and one different mutation per patient inherited in trans in a wide population of 289 Caucasian CF subjects from South Italy. The genotype-phenotype relationship in patients bearing this complex allele was investigated. The two associated mutations were related to classical severe CF phenotypes. |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: CFTR; Complex allele; Cystic fibrosis; Phenotype. |
| Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000300008 |
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| Lema, Anais Kimberley; Metegnier, Gabriel; Quéré, Julien; Latimier, Marie; Youenou, Agnes; Lambert, Christophe; Fauchot, Juliette; Le Gac, Mickael. |
| Untangling the functional basis of divergence between closely related species is a step towards understanding species dynamics within communities at both the evolutionary and ecological scales. We investigated cellular (i.e: growth, domoic acid production, nutrient consumption) and molecular (transcriptomic analyses) responses to varying nutrient concentrations across several strains belonging to three species of the toxic diatom genus Pseudo-nitzschia. Three main results were obtained. First, strains from the same species displayed similar transcriptomic, but not necessarily cellular, responses to the experimental conditions. It showed the importance of considering intra-specific diversity to investigate functional divergence between species. Second, a... |
| Tipo: Text |
Palavras-chave: Phenotype; Transcriptomics; Pseudo-nitzschia; Divergence; Nutrients. |
| Ano: 2019 |
URL: https://archimer.ifremer.fr/doc/00482/59392/62157.pdf |
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| Paniagua-Ibánez,Maribel; López-Caamal,Alfredo; Mussali-Galante,Patricia; Sánchez-Salinas,Enrique; Ortiz-Hernández,Ma. Laura; Ramírez-Rodríguez,Rolando; Tovar-Sánchez,Efraín. |
| BACKGROUND: Morphological variability can lead to serious taxonomic problems in species with wide distribution ranges. Although morphological variability is partly due to ontogenetic programming, abiotic variables can also exert a significant effect on micro- and macromorphological characters. in this paper, we studied the morphological variability (43 characters) of Cosmos bipinnatus associated to different vegetation types in central Mexico. We searched for significant correlations between the overall morphology of C. bipinnatus and abiotic variables such as altitude and soil parameters (pH, organic matter content, NH4,NO3,PO4, total N and total P content). We also analyzed the Simplified Relative Distance Plasticity index (RDPIs). RESULTS: Locality had... |
| Tipo: Journal article |
Palavras-chave: Macromorphology; Micromorphology; Phenotype; Phenotypic plasticity reproductive character; Vegetative character. |
| Ano: 2015 |
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-078X2015000100014 |
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| Torres,N.; Mello,M.P.; Germano,C.M.R.; Elias,L.L.K.; Moreira,A.C.; Castro,M.. |
| Deficiency of 21-hydroxylase is the most common form of congenital adrenal hyperplasia (CAH-21OH). We determined by allele-specific PCR the frequency of microconversion in the CYP21A2 gene in 50 Brazilian patients with the classical (salt wasting: SW and simple virilizing: SV) forms and nonclassical (NC) form of CAH-21OH and correlated genotype with phenotype. Genotypes were classified into three mutation groups (A, B, and C) based on the amount of enzymatic activity in in vitro studies using adrenal cells. In 94 unrelated alleles, we diagnosed 76% of the affected alleles after screening for 7 microconversions. The most frequent point mutations observed in this series were I172N (19%), V281L (18%), and IVS2,A/C>G,-12 (15%). In the SW form, the most... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: 21-Hydroxylase; Mutation; Microconversion; Genotype; Phenotype; Congenital adrenal hyperplasia. |
| Ano: 2003 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003001000006 |
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| Boivin,Guy. |
| Several proxies can be used to estimate the fitness of egg parasitoids: size, longevity, fecundity, mating ability and vagility. All these proxies are positively correlated with the lifetime fitness gain of an individual. However, the phenotypic plasticity, which is the ability of a genotype to produce distinct phenotypes depending on environmental conditions, may alter the value of these proxies. Host related factors (host species and quality), competition and duration of development will influence the proxies expressed by a given phenotype. When the phenotype is modified by the temperature at which an individual develops, the resulting phenotype will vary based on the life history strategy of the parasitoid. While in koinobiont species an increase in... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Fitness; Proxy; Reproduction; Longevity; Phenotype. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1519-566X2010000400001 |
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| Favero,R.; Mizubuti,I.Y.; Gomes,R.C.; Ribeiro,E.L.A.; Pereira,E.S.; Prado-Calixto,O.P.P.; Massaro Júnior,F.L.; Santos,A.P.S.. |
| ABSTRACT The present study aimed to evaluate the feedlot performance, profitability and carcass traits of Brahman bulls classified according to the residual feed intake (RFI). Twenty-four bulls (19-month old, 370±34kg live weight) were housed in individual pens for 54 days and had the daily feed intake (observed dry matter intake, DMIobs; DMI % live weight, LW) and average daily gain (ADG) measured. Ultrasound carcass evaluations were performed at the initial and final weighings, when measurements were taken of Longissimus dorsi area, ratio, Longissimus and Biceps femoris fat thickness. The animals were ranked and divided into high (>+0.5 standard deviation; SD), medium (between ±0.5 SD from the mean), and low (<-0.5 SD) RFI groups. Low-RFI animals... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Bos indicus; Feed conversion ratio; Musculature; Phenotype. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0102-09352018000200525 |
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| Registros recuperados: 25 | |
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