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Nomenclatura Unesco > (24) Ciencias de la Vida > (2409) Genética
(2409.01) Embriología (2409.02) Ingeniería genética
(2409.03) Genética de poblaciones (2409.90) Citogenética animal
(2409.91) Genética del desarrollo (2409.92) Genética molecular de plantas
(2409.93) Genética molecular (2409.94) Genética molecular de levaduras
(2409.99) Otras (especificar)

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(3201.02) Genética clínica (2410.07) Genética humana
(2407.02) Citogenética

Mostrando recursos 1 - 20 de 310,650

1. Análise da viabilidade da produção de tomates em estufas - Pinto, Adriana Dorneles Figueiredo
A demanda por produtos de qualidade vai em contraponto à utilização de agrotóxicos e alterações genéticas nos produtos agrícolas. A utilização de tais substâncias proporcionam produções em larga escala e aumento de tempo de prateleira. Muitos produtores ao perceber a valorização de produtos mais saudáveis e do possível valor agregado aos vegetais cultivados de tal forma, estão investindo na qualidade dos produtos, reduzindo escala e optando pela produção protegida. A produção protegida pode ser feita através de estufas, as quais os custos de investimento são muito superiores quando comparados a produção convencional, porém tal investimento pode evitar surpresas com mau...

2. Análise de marcadores moleculares em roedores sul americanos tuco-tucos (CTENOMYIDAE: RODENTIA) do centro-oeste e do norte do Brasil - Leipnitz, Leonardo Trindade
A Ordem Rodentia é considerada a mais diversa entre os mamíferos, compreendendo cerca de 2.277 espécies descritas, distribuídas em 34 famílias. Roedores subterrâneos têm representantes distribuídos em todos os continentes, à exceção da Oceania e da Antártida. Na América do Sul, são representados pela família Ctenomyidae e seu único gênero, Ctenomys, o mais diverso entre os roedores subterrâneos, com cerca de 60 espécies descritas. Ctenomídeos são territorialistas, em geral solitários, e dependentes de um sistema de galerias para sobrevivência, deixando esses sistemas apenas para buscar alimento, procurar parceiro para reprodução ou para migração. Tais características refletem na estruturação genética entre...

3. Is there any value to hepatitis B virus genotype analysis? - Tanwar, S; Dusheiko, G
Hepatitis B may cause a varying spectrum of diseases ranging from an asymptomatic or mild anicteric acute illness, to severe or fulminant hepatitis. Similarly, the outcome of chronic hepatitis B is variable. Viral factors associated with outcome of chronic hepatitis B virus (HBV) infection include hepatitis B e antigen status, HBV DNA, genotype, and HBV variants. HBV genotypes and subgenotypes have been associated with differences in clinical and virological characteristics, indicating that they may play a role in the virus-host relationship. A total of ten hepatitis B virus genotypes have been defined with a distinct geographical distribution. Hitherto, genotypes A,...

4. Genetic testing for inheritable cardiac channelopathies. - Szepesváry, E; Kaski, JP
Cardiac channelopathies are linked to an increased risk of ventricular arrhythmia and sudden death. This article reviews the clinical characteristics and genetic basis of common cardiac ion-channel diseases, highlights some genotype-phenotype correlations, and summarizes genetic testing for inheritable cardiac channelopathies.

5. A quantitative trait locus influencing anxiety in the laboratory rat. - Fernández-Teruel, A; Escorihuela, RM; Gray, JA; Aguilar, R; Gil, L; Giménez-Llort, L; Tobeña, A; Bhomra, A; Nicod, A; Mott, R; Driscoll, P; Dawson, GR; Flint, J
A critical test for a gene that influences susceptibility to fear in animals is that it should have a consistent pattern of effects across a broad range of conditioned and unconditioned models of anxiety. Despite many years of research, definitive evidence that genetic effects operate in this way is lacking. The limited behavioral test regimes so far used in genetic mapping experiments and the lack of suitable multivariate methodologies have made it impossible to determine whether the quantitative trait loci (QTL) detected to date specifically influence fear-related traits. Here we report the first multivariate analysis to explore the genetic architecture...

6. Genetic variation in FOXO3 is associated with reductions in inflammation and disease activity in inflammatory polyarthritis - Viatte, S; Lee, JC; Fu, B; Espéli, M; Lunt, M; De Wolf, JNE; Wheeler, L; Reynolds, JA; Castelino, M; Symmons, DPM; Lyons, PA; Barton, A; Smith, KGC

7. Review: An update on clinical, genetic and pathological aspects of frontotemporal lobar degenerations - Lashley, T; Rohrer, JD; Mead, S; Revesz, T
© 2015 British Neuropathological Society. The development of our understanding of frontotemporal dementia (FTD) has gathered pace over the last 10 years. After taking a back seat to Alzheimer's disease for many years FTD has emerged as a significant group of heterogeneous diseases often affecting people under the age of 65. FTD has also been brought into the spotlight as the major disease entities of the group have clinical, genetic and pathological links to motor neuron disease/amyotrophic lateral sclerosis, indicating that they form a disease spectrum. In this review, we overview how the pathological concept of frontotemporal lobar degeneration (FTLD)...

8. Psychometric precision in phenotype definition is a useful step in molecular genetic investigation of psychiatric disorders. - Xu, MK; Gaysina, D; Barnett, JH; Scoriels, L; van de Lagemaat, LN; Wong, A; Richards, M; Croudace, TJ; Jones, PB; LHA Genetics Group,
Affective disorders are highly heritable, but few genetic risk variants have been consistently replicated in molecular genetic association studies. The common method of defining psychiatric phenotypes in molecular genetic research is either a summation of symptom scores or binary threshold score representing the risk of diagnosis. Psychometric latent variable methods can improve the precision of psychiatric phenotypes, especially when the data structure is not straightforward. Using data from the British 1946 birth cohort, we compared summary scores with psychometric modeling based on the General Health Questionnaire (GHQ-28) scale for affective symptoms in an association analysis of 27 candidate genes (249...

9. MRI analysis of an inherited speech and language disorder: Structural brain abnormalities - Watkins, KE; Vargha-Khadem, F; Ashburner, J; Passingham, RE; Connelly, A; Friston, KJ; Frackowiak, RSJ; Mishkin, M; Gadian, DG
Analyses of brain structure in genetic speech and language disorders provide an opportunity to identify neurobiological phenotypes and further elucidate the neural bases of language and its development. Here we report such investigations in a large family, known as the KE family, half the members of which are affected by a severe disorder of speech and language, which is transmitted as an autosomal-dominant monogenic trait. The structural brain abnormalities associated with this disorder were investigated using two morphometric methods of MRI analysis. A voxel-based morphometric method was used to compare the amounts of grey matter in the brains of three...

10. Specific JAK2 mutation (JAK2R683) and multiple gene deletions in Down syndrome acute lymphoblastic leukemia. - Kearney, L; Gonzalez De Castro, D; Yeung, J; Procter, J; Horsley, SW; Eguchi-Ishimae, M; Bateman, CM; Anderson, K; Chaplin, T; Young, BD; Harrison, CJ; Kempski, H; So, CW; Ford, AM; Greaves, M
Children with Down syndrome (DS) have a greatly increased risk of acute megakaryoblastic leukemia (AMKL) and acute lymphoblastic leukemia (ALL). Both DS-AMKL and the related transient myeloproliferative disorder (TMD) have GATA1 mutations as obligatory, early events. To identify mutations contributing to leukemogenesis in DS-ALL, we undertook sequencing of candidate genes, including FLT3, RAS, PTPN11, BRAF, and JAK2. Sequencing of the JAK2 pseudokinase domain identified a specific, acquired mutation, JAK2R683, in 12 (28%) of 42 DS-ALL cases. Functional studies of the common JAK2R683G mutation in murine Ba/F3 cells showed growth factor independence and constitutive activation of the JAK/STAT signaling pathway. High-resolution...

11. Identification and characterization of hemapoietic stem and progenitor cell populations in mouse bone marrow by flow cytometry - Yeung, J; So, CWE
The volume provides techniques for prenatal backtracking of leukemic clone, molecular diagnosis, detection of genome-wide genetic abnormalities and profiling, identification of unknown fusion genes, monitoring of minimal residual diseases, ...

12. Natural history of hepatitis C. - Westbrook, RH; Dusheiko, G
There has long been evidence that hepatitis C can lead to persistent infection in a high proportion of infected individuals, and can progress to chronic liver disease, cirrhosis and hepatocellular carcinoma (HCC). The transition from acute to chronic hepatitis C is usually sub-clinical. Accurate studies of the time course for clearance of acute hepatitis C are difficult to carry out because of the silent onset of the acute disease. The likelihood of spontaneous HCV resolution is associated with several genetic factors, including IL28B inheritance and the DQB1*0301 allele of the major histocompatibility complex class II. Most data suggest that resolution...

13. DISTRIBUTION OF TRINUCLEOTIDE REPEAT SEQUENCES ACROSS A 2-MBP REGION CONTAINING THE HUNTINGTONS-DISEASE GENE - HUMMERICH, H; BAXENDALE, S; MOTT, R; KIRBY, SF; MACDONALD, ME; GUSELLA, J; LEHRACH, H; BATES, GP
The recent observation that the mutation underlying a number of genetic diseases including fragile sites, FRAXA and FRAXE (associated with mental retardation), myotonic dystrophy, spinal and bulbar muscular atrophy (Kennedy's disease), Huntington's disease and spinocerebellar ataxia type 1 are caused by the expansion of a trinucleotide repeat sequence will lead to interest in the identification of such sequences in regions related to other diseases. We report here the identification of all ten classes of trinucleotide repeats within a 2 Mbp region of 4p16.3 containing the Huntington's disease (HD) gene. Fifty one triplet repeats were identified and localised on a high...

14. A COSMID CONTIG AND HIGH-RESOLUTION RESTRICTION MAP OF THE 2 MEGABASE REGION CONTAINING THE HUNTINGTONS-DISEASE GENE - BAXENDALE, S; MACDONALD, ME; MOTT, R; FRANCIS, F; LIN, C; KIRBY, SF; JAMES, M; ZEHETNER, G; HUMMERICH, H; VALDES, J; COLLINS, FS; DEAVEN, LJ; GUSELLA, JF; LEHRACH, H; BATES, GP
The quest for the mutation responsible for Huntington's disease (HD) has required an exceptionally detailed analysis of a large part of 4p16.3 by molecular genetic techniques, making this stretch of 2.2 megabases one of the best characterized regions of the human genome. Here we describe the construction of a cosmid and Pl clone contig spanning the region containing the HD gene, and the establishment of a detailed, high resolution restriction map. This ordered clone library has allowed the identification of several genes from the region, and has played a vital role in the recent identification of the Huntington's disease gene....

15. Monoaminergic Neuropathology in Alzheimer's disease. - Šimić, G; Leko, MB; Wray, S; Harrington, C; Delalle, I; Jovanov-Milošević, N; Bažadona, D; Buée, L; Silva, R; Giovanni, GD; Wischik, C; Hof, PR
None of the proposed mechanisms of Alzheimer's disease (AD) fully explains the distribution patterns of the neuropathological changes at the cellular and regional levels, and their clinical correlates. One aspect of this problem lies in the complex genetic, epigenetic, and environmental landscape of AD: early-onset AD is often familial with autosomal dominant inheritance, while the vast majority of AD cases are late-onset, with the ε4 variant of the gene encoding apolipoprotein E (APOE) known to confer a 5-20 fold increased risk with partial penetrance. Mechanisms by which genetic variants and environmental factors influence the development of AD pathological changes, especially...

16. Alterations in global DNA methylation and hydroxymethylation are not detected in Alzheimer's disease - Lashley, T; Gami, P; Valizadeh, N; Li, A; Revesz, T; Balazs, R
© 2014 The Authors. Neuropathology and Applied Neurobiology published by John Wiley & Sons Ltd on behalf of British Neuropathological Society. Aims: Genetic factors do not seem to account fully for Alzheimer disease (AD) pathogenesis. There is evidence for the contribution of environmental factors, whose effect may be mediated by epigenetic mechanisms. Epigenetics involves the regulation of gene expression independently of DNA sequence and these epigenetic changes are influenced by age and environmental factors, with DNA methylation being one of the best characterized epigenetic mechanisms. The human genome is predominantly methylated on CpG motifs, which results in gene silencing; however...

17. Characterization and Multiplexing of 21 Microsatellite Markers for the Herb Noccaea caerulescens (Brassicaceae) - Mousset, Mathilde; Flaven, Elodie; Justy, Fabienne; Pouzadoux, Juliette; Gode, Cécile; Pauwels, Maxime; Gonneau, Cédric
Premise of the study: Multiplexed microsatellite markers were developed for population genetic studies in the pseudometallophyteNoccaea caerulescens (Brassicaceae), a model species to investigate metal tolerance and hyperaccumulation in higherplants.• Methods and Results: Microsatellite loci were isolated through pyrosequencing of an enriched DNA library. Three multiplexescombining four previously published and 17 newly designed markers were developed. The new markers were screened inmetallicolous and nonmetallicolous populations from southern France. The total number of alleles per locus ranged from fi veto 18. The observed heterozygosity per locus and per population ranged from 0 to 0.83, and expected heterozygosity rangedfrom 0 to 0.89.• Conclusions:...

18. Performance of a multi-species-plant illumina beadchip - Le Paslier, Marie-Christine; Berard, Aurélie; Chauveau, Aurelie; MARQUAND, ELODIE; Boland-Auge, Anne; Eggen, André; Brunel, Dominique; Faivre-Rampant, Patricia
Since mid-2005, Illumina Infinium® genotyping arrays provide data with good accuracy for thousands of SNPs (single nucleotide polymorphism) in thousands individuals for many organisms including plants. These extensive data used in large studies gave new insight in population and molecular genetics. Nevertheless, flexible high density genotyping tools at reasonable costs are still to be developed. Low cost genotyping assays would allow many applications including control of individuals, marker assisted management and genetic approaches in species where molecular developments have a comparatively low value relative to the cost of SNP arrays. The initial cost and/or the minimum sample number requirement are...

19. Characterization of [i]Medicago[/i] populations under cold acclimation by morphological traits and microsatellite (SSR) markers - Yahia, Nourredine; Lameche, Fyad; Fatima, Zohra; Bakhti, Nacer; Barre, Philippe
The study was carried on 16 accessions of annual Medicago species (M. truncatula Gaertn. M. ciliaris Krocker., M. aculeata Wild. and M. polymorpha L.). Seedlings of different accessions collected from sites of contrasting altitudes (10 to 1170 m) were subjected to different durations of low temperature regimes. Root to shoot ratios of acclimated and non acclimated plants were compared. Among the 16 accessions studied, 12 were used to assess the degree of genetic polymorphism by SSR microsatellites. Results show that accessions that originated from high altitude had a better root to shoot ratios and so had better ability to cold...

20. From phenotype to genotype: the case-study of a common field trial initiated through Eucarpia for promoting Festulolium breeding - Ghesquière, Marc
Lolium x Festuca hybrids (so-called Festulolium) renews considerably grass breeding in conjunction to the development of new genomic technology, the context of the climate change and the stressing injunction towards the breeders to release better adapted cultivars. This presentation points out some of those issues from a field trial carried out across the Eucarpia network and underlines how molecular genotyping could be essential to tackle the challenge.As hybrids between parental species quite differently adapted, Festulolium enlarge extensively genetic variability for many traits simultaneously. Two genome sources of genetic variability mix their effects within Festulolium hybrids. Thanks to preferential homologous chromosome...

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