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Clinical and molecular analysis of the enamelin gene ENAM in Colombian families with autosomal dominant amelogenesis imperfecta Genet. Mol. Biol.
Gutiérrez,Sandra; Torres,Diana; Briceño,Ignacio; Gómez,Ana Maria; Baquero,Eliana.
In this study, we analyzed the phenotype, clinical characteristics and presence of mutations in the enamelin gene ENAM in five Colombian families with autosomal dominant amelogenesis imperfecta (ADAI). 22 individuals (15 affected and seven unaffected) belonging to five Colombian families with ADAI and eight individuals (three affected and five unaffected) belonging to three Colombian families with autosomal recessive amelogenesis imperfecta (ARAI) that served as controls for molecular alterations and inheritance patterns were studied. Clinical, radiographic and genetic evaluations were done in all individuals. Eight exons and three intron-exon boundaries were sequenced for mutation analysis. Two of the five families with ADAI had the hypoplasic phenotype,...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Amelogenesis imperfecta; ENAM gene; Hypocalcified; Hypoplasic; Phenotype.
Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000400003
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Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele Genet. Mol. Biol.
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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Biochemical and molecular investigations on qualitative and quantitative Hb polymorphism in the river buffalo (Bubalus bubalis L.) population reared in Southern Italy Genet. Mol. Biol.
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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Banco de Dados de Genótipos e Fenótipos (BDGF) para suporte a estudos de associação genômica ampla e seleção genômica em programas de melhoramento animal. Infoteca-e
HIGA, R. H.; OLIVEIRA, G. B. de.
Este documento complementa os trabalhos previamente desenvolvidos, apresentando um modelo de dados para armazenamento de dados de genótipos, fenótipos e pedigree de animais de interesse agropecuário para suporte tanto a experimentos de GWAS quanto a programas de melhoramento genético animal, Banco de Dados de Genótipos e Fenótipos(BDGF).
Tipo: Documentos (INFOTECA-E) Palavras-chave: Associação genômica; Genome-wide association studies.; Genótipo; Fenótipo; Melhoramento Animal.; Genotype; Phenotype; Genetic improvement.
Ano: 2015 URL: http://www.infoteca.cnptia.embrapa.br/infoteca/handle/doc/1022327
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Odometria visual com SVO e sua aplicação em reconstrução tridimensional. Infoteca-e
SANTOS, T. T..
O presente trabalho analisa um método recentemente proposto na literatura para odometria visual em tempo real, isto é, a localização espacial em tempo real obtida somente a partir de imagens geradas por uma câmera acoplada ao equipamento, e sua aplicabilidade em problemas de reconstrução tridimensional de objetos.
Tipo: Documentos (INFOTECA-E) Palavras-chave: Odometria visual; Reconstrução 3D; Reconstrução tridimensional; Fenotipagem de plantas; Navegação robótica; Semi-direct Visual Odometry; Phenotype.
Ano: 2014 URL: http://www.infoteca.cnptia.embrapa.br/infoteca/handle/doc/1011987
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Utilizando o formato JSON para armazenar dados do sistema BDGF no PostgreSQL. Infoteca-e
VIEIRA, F. D..
Neste documento, será apresentada uma contribuição da Embrapa Informática Agropecuária quanto ao uso do tipo de dados JSON no PostgreSQL, sua integração com a linguagem Java e um pequeno tutorial mostrando como trabalhar com o tipo JSON no PostgreSQL.
Tipo: Documentos (INFOTECA-E) Palavras-chave: Marcadores moleculares; Diagrama entidade-relacionamento; NoSQL; MongoDB; Java; Sistema Banco de Dados de Genótipos e Fenótipos; Genetic markers; Genotype; Phenotype.
Ano: 2016 URL: http://www.infoteca.cnptia.embrapa.br/infoteca/handle/doc/1065251
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Manual de uso do Sistema BDGF. Infoteca-e
VIEIRA, F. D..
Neste documento apresentamos um manual de uso das principais funcionalidades do sistema BDGF, seja para usuários atuais ou para pessoas interessadas em como trabalhar com esse software web para armazenamento e recuperação de dados fenotípicos e genotípicos de animais.
Tipo: Documentos (INFOTECA-E) Palavras-chave: Banco de Dados de Genótipos e Fenótipos; Sistema BDGF; Genótipo; Fenótipo; Melhoramento Animal; Genotype; Phenotype; Computer software.
Ano: 2019 URL: http://www.infoteca.cnptia.embrapa.br/infoteca/handle/doc/1115483
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Crossing phenotype heritability and candidate gene expression in grafted black-lipped pearl oyster Pinctada margaritifera, an animal chimera ArchiMer
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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Inter and intra-specific transcriptional and phenotypic responses of Pseudo-nitzschia under different nutrient conditions ArchiMer
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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Variation in cultured pearl quality traits in relation to position of saibo cutting on the mantle of black-lipped pearl oyster Pinctada margaritifera ArchiMer
Ky, Chin-long; Nakasai, Seiji; Parrad, Sophie; Broustal, Floriane; Devaux, Dominique; Louis, Patricia.
Cultured pearl production from Pinctada margaritifera uses the biomineralization capacities of the mantle graft, the saibo, which is usually obtained from only the middle mantle section of the donor oyster. To evaluate the potential for using other parts of the mantle, this study explores and describes the cultured pearl quality traits, pearl size, shape, surface defects and colour parameters obtained with saibo from the entire length of the mantle, comprising the four following sections: 1) posterior, 2) connection with the gills, 3) middle, (the section usually used commercially), and 4) anterior. Rates of nucleus retention and oyster mortality were also recorded and compared between sections. For this, two experimental grafts were designed and conducted...
Tipo: Text Palavras-chave: Pinctada margaritifera; Pearl oyster; Pearl quality traits; Saibo position; Mantle tissue; Phenotype.
Ano: 2018 URL: https://archimer.ifremer.fr/doc/00439/55030/56461.pdf
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Respiratory function in healthy first-degree relatives of asmathic adolescents JBAG
Pereira,C; Veiga,N; Barros,H.
Asthma is a complex disease associated with biological and physiological phenotypes. The objective of this study was to compare the respiratory function in healthy first-degree relatives of asthmatic and non-asthmatic adolescents. We used a cross-sectional approach to assess 101 family cases (presence of one or more adolescents classified as asthmatic) and 275 stable families (families without adolescents classified as asthmatic). We obtained a final sample of 822 relatives. The respiratory function was evaluated by the forced expiratory volume in 1 second (FEV), and the forced vital capacity (FVC), using the Microlab 3300® Spirometer. A self-administered questionnaire was used to record upper and lower airway symptoms, allergic symptoms and medical...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Asthma; Respiratory function; Genetic factors; Environmental factors; Phenotype.
Ano: 2013 URL: http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S1852-62332013000300003
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Phenotypic plasticity and fitness in egg parasitoids Neotropical Entomology
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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Color polymorphism and allele frequency in a Brazilian population of the sunflower caterpillar Chlosyne lacinia saundersi (Doubleday) (Lepidoptera: Nymphalidae) Neotropical Entomology
Lopes-da-Silva,Marcelo; Casagrande,Mirna M..
The aim of this work was at calculating allele frequency color polymorphism in a population of sunflower caterpillar, Chlosyne lacinia saundersi (Doubleday) from Londrina, Paraná State, Brazil. Allele frequency in insect populations can be used as genetic marker to compare populations from different geographical and host origins. There are three phenotypes conditioned by two loci interacting epistatically. The phenotypes are: rufa (oranged colored larvae), bicolor (black larvae with dorsal orange stripes) and nigra, larvae with the body entirely black, sometimes with dorsal yellow dots, best seen in the fourth and fifth instars. Samples were taken independently in an attempt to obtain all combinations of crossing among genotypes. The genetic mechanism of...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Epistasis; Population genetics; Ecological genetics; Phenotype.
Ano: 2003 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1519-566X2003000100025
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トキソプラズマ溶解抗原(TLA)で誘導されるマウス脾臓内の細胞障害性細胞の性質 OAK
MIYAHARA, Kazuro; MATSUMOTO, Toru; TOSE, Shinichi; SAKURAI, Haruhisa; IGARASHI, Ikuo; SAITO, Atsushi; HIROSE, Tsuneo; SUZUKI, Naoyoshi; 宮原, 和郎; 五十嵐, 郁男.
Spleen cells from Toxoplasma lysate antigen (TLA)-sensitized BALB/c mice showed the strong cytotoxic activity against both natural killer (NK)-sensitive cells (YAC-1 and RL♂-1) and NK-insensitive cells (P-815), when incubated with TLA or recombinant human IL-2 (rhIL-2). The increment of TLA concentration in culture medium increased the cytotoxic activity. Treatment of effector cells; spleen cells from TLA-sensitized mice incubated with TLA, with anti-asialo GM1 or anti-Thy-1 plus complement inhibited the cytotoxic activity of effector cells, whereas treatment with anti-mouse Lyt-2.2 serum plus complement had no effect on the cytotoxic activity. Treatment of spleen cells from TLA-sensitized mice with anti-asialo GM1 and/or anti-Thy-1 plus complement...
Palavras-chave: Cytotoxic activity; Mouse; Phenotype; Spleen cell; Toxoplasma lysate antigen.
Ano: 1992 URL: http://ir.obihiro.ac.jp/dspace/handle/10322/4063
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Phenotypic features of Helicina variabilis (Gastropoda: Neritimorpha) from Minas Gerais, Brazil Pap. Avulsos de Zool. (São Paulo)
Simone,Luiz Ricardo L..
Abstract Helicina variabilis Wagner, 1827 (Neritimorpha, Helicinidae) is redescribed based on a sample collected in Nanuque, northern Minas Gerais, Brazil. The species description, previously based only on the shell, is expanded to the phenotypic features. The study revealed absorption of the internal shell whorls; a diaphragm muscle connected to the floor of the pallial cavity; a monoaulic pallial oviduct, with the female genital aperture inside the anal aperture, and the lack of a seminal receptacle and provaginal sac; and the pleural ganglia of the nerve ring connected with each other. The significance of these findings is discussed in the light of current taxonomic and phylogenetic knowledge.
Tipo: Info:eu-repo/semantics/article Palavras-chave: Atlantic Rainforest; Helicinidae; Anatomy; Morphology; Phenotype.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0031-10492018000100230
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Genetic improvement of beef cattle through opportunities in genomics R. Bras. Zootec.
Miller,Stephen.
Genomics will improve the efficiency of beef cattle genetic improvement programs through the incorporation of genomic predictions into traditional genetic evaluations. The global dairy cattle breeding industry has been changed considerably in the last year through the implementation of genomic selection. Now proven to work in dairy cattle breeding, the challenge remains for the beef industry to successfully implement this technology. The primary challenge in beef cattle is the required resource population that relates genomic profile to phenotypic performance, which is quite large and its establishment will require collaboration or a significant investment by any one enterprise. Another challenge in beef cattle is the requirement for genomic predictions to...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Breeding strategies; DNA; Genomic selection; Phenotype; Recording; Single nucleotide polymorphisms.
Ano: 2010 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-35982010001300027
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Morphological variation of Cosmos bipinnatus (Asteraceae) and its relation to abiotic variables in central Mexico RChHN
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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Coat survey and Quarter reproductive age used in Vaquejada in Northeast micro-regions Sci. Agrar.Paran. / SAP
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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Genetic control of seed dormancy and pre-harvest sprouting in wheat Scientia Agricola
Andreoli,Claudinei; Bassoi,Manoel Carlos; Brunetta,Dionisio.
Pre-harvest sprouting (PHS) damage leads to occasional massive losses in all wheat producing areas, causing downgrading of grain quality, that severely limits end-use applications and results in substantial financial losses to farmers and food processors. Red grain color is a traditional marker for resistance to sprouting in wheat breeding programs, however red-grained genotype alone does not always guarantee effective resistance. The objective of this work was to find genes for resistance to PHS and investigate its inheritance in Brazilian wheat cultivars. Genetic variation for dormancy was investigated in the parents, F1 and 300 F2 lines derived from the cross Frontana × OR1 and its reciprocal. The germination/dormancy sprouted grains was evaluated on...
Tipo: Info:eu-repo/semantics/report Palavras-chave: Triticum aestivum; QTL; Alpha-amylase; Digenic model; Phenotype.
Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-90162006000600009
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Genetic diversity among Brazilian okra landraces detected by morphoagronomic and molecular descriptors Agronomy
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
Registros recuperados: 25
Primeira ... 12 ... Última
 

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