953 resultados para family of origin


Relevância:

100.00% 100.00%

Publicador:

Resumo:

Family-of-origin is an important system in individual’s lives, and its influence is extensive over the life cycle. The aim of this study was to investigate, in a sample of adolescents’ parents, whether their retrospective perceptions of parenting and relationship qualities within their families-of-origin during adolescence predicted their current collectivist and individualist values. Participants included 110 Portuguese adults with a mean age of 46.86 years old. The results of structural equation modeling supported that retrospective perceptions of parenting and relationship qualities in the family-of-origin predicted the adults’ collectivist values but not their individualist values. This study highlights the importance of retrospective perceptions of supporting and non-rejecting parenting for value acquisition. The results also suggest that values that preserve and protect family connections and collaborations are more likely to be socialized by families. Implications for practice and for the theories on parenting, values, family-of-origin influences and family intergenerational transmission are discussed.

Relevância:

100.00% 100.00%

Publicador:

Resumo:

cdc18+ of Schizosaccharomyces pombe is a periodically expressed gene that is required for entry into S phase and for the coordination of S phase with mitosis. cdc18+ is related to the Saccharomyces cerevisiae gene CDC6, which has also been implicated in the control of DNA replication. We have identified a new Sch. pombe gene, orp1+, that encodes an 80-kDa protein with amino acid sequence motifs conserved in the Cdc18 and Cdc6 proteins. Genetic analysis indicates that orp1+ is essential for viability. Germinating spores lacking the orp1+ gene are capable of undergoing one or more rounds of DNA replication but fail to progress further, arresting as long cells with a variety of deranged nuclear structures. Unlike cdc18+, orp1+ is expressed constitutively during the cell cycle. cdc18+, CDC6, and orp1+ belong to a family of related genes that also includes the gene ORC1, which encodes a subunit of the origin recognition complex (ORC) of S. cerevisiae. The products of this gene family share a 250-amino acid domain that is highly conserved in evolution and contains several characteristic motifs, including a consensus purine nucleotide-binding motif. Among the members of this gene family, orp1+ is most closely related to S. cerevisiae ORC1. Thus, the protein encoded by orp1+ may represent a component of an Sch. pombe ORC. The orp1+ gene is also closely related to an uncharacterized putative human homologue. It is likely that the members of the cdc18/CDC6 family play key roles in the regulation of DNA replication during the cell cycle of diverse species from archaebacteria to man.

Relevância:

100.00% 100.00%

Publicador:

Resumo:

Using restriction fragment length polymorphism (RFLP) we have analyzed the segregation of alleles of the different vitellogenin genes of Xenopus laevis. The results demonstrate that the four genes whose expression is controlled by oestrogen, form two linkage groups. The genes A1, A2 and B1 are linked genetically whereas the fourth gene, the gene B2, segregates independently. The possible origin of this unexpected arrangement is discussed.

Relevância:

100.00% 100.00%

Publicador:

Resumo:

The phenotypic effect of some single nucleotide polymorphisms (SNPs) depends on their parental origin. We present a novel approach to detect parent-of-origin effects (POEs) in genome-wide genotype data of unrelated individuals. The method exploits increased phenotypic variance in the heterozygous genotype group relative to the homozygous groups. We applied the method to >56,000 unrelated individuals to search for POEs influencing body mass index (BMI). Six lead SNPs were carried forward for replication in five family-based studies (of ∼4,000 trios). Two SNPs replicated: the paternal rs2471083-C allele (located near the imprinted KCNK9 gene) and the paternal rs3091869-T allele (located near the SLC2A10 gene) increased BMI equally (beta = 0.11 (SD), P<0.0027) compared to the respective maternal alleles. Real-time PCR experiments of lymphoblastoid cell lines from the CEPH families showed that expression of both genes was dependent on parental origin of the SNPs alleles (P<0.01). Our scheme opens new opportunities to exploit GWAS data of unrelated individuals to identify POEs and demonstrates that they play an important role in adult obesity.

Relevância:

100.00% 100.00%

Publicador:

Resumo:

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Relevância:

100.00% 100.00%

Publicador:

Resumo:

Despite various efforts to promote sport participation among youth, social inequalities still exist. An explanation for these social inequalities could be traced back to transgenerational transmission of sport-related values and behaviour patterns in a family (Baur, 1989). Therefore, children’s socialisation to sport is strongly influenced by the parents’ sport-related values and sport behaviour (Burrmann, 2005). However, findings of previous studies are inconsistent, and the daily sport-related behaviour patterns of families have often not been taken into account. The paper deals with the question, to what extent sport participation of youth is influenced by factors such as the importance of sport, the self-evidence of regular sport activity, mutual support, shared sport activities, sport-related health-awareness and communication about sport in the family. In order to pursue this research question, socialisation theories were used as theoretical framework (Hurrelmann, 2006). Based on this approach, a quantitative online survey where 4’039 adolescents and young adults from the ages of 15 to 30 (n = 4’039, M = 21.48, SD = 4.64) answered questions according their sport participation and the sport-related patterns of their families. Furthermore, a qualitative study that included guideline-based interviews with adolescents and young adults (n = 13) were undertaken. Content analysis was used to analyse the interviews. Initial findings of the multiple regression analysis reveal that the most important predictors of sport participation of youth are communication about sport (β = .18, p < .001), mutual support (β = .13, p < .001), regular sport activity (β = .10, p < .01) and the importance of sport in the family (β = .10, p < .01). By means of content analysis, more in-depth information could be identified. The promotion of sport through sport-related behaviour patterns in the family appears to be a successful strategy to develop a durable sport commitment in youth. References Baur, J. (1989). Körper- und Bewegungskarrieren [Body and exercise careers]. Schorndorf: Hofmann. Burrmann, U. (2005). Zur Vermittlung und intergenerationalen "Vererbung" von Sport(vereins)engagements in der Herkunftsfamilie [On placing and "inheriting" intergenerational sport(club) commitment in the family of origin]. Sport und Gesellschaft, 2, 125–154. Hurrelmann, K. (2006). Einführung in die Sozialisationstheorie [Introduction to socialisation theory] (9th ed.). Studium Paedagogik. Weinheim: Beltz.

Relevância:

100.00% 100.00%

Publicador:

Resumo:

A large family of isoquinoline sulfonamide compounds inhibits protein kinases by competing with adenosine triphosphates(ATP), yet interferes little with the activity of other ATP-using enzymes such as ATPases and adenylate cyclases. One such compound, N-(2-aminoethyl)-5-chloroisoquinoline-8-sulfonamide (CK17), is selective for casein kinase-1 isolated from a variety of sources. Here we report the crystal structure of the catalytic domain of Schizosaccharomyces pombe casein kinase-1 complexed with CK17, refined to a crystallographic R-factor of 17.8% at 2.5 angstrom resolution. The structure provides new insights into the mechanism of the ATP-competing inhibition and the origin of their selectivity toward different protein kinases. Selectivity for protein kinases versus other enzymes is achieved by hydrophobic contacts and the hydrogen bond with isoquinoline ring. We propose that the hydrogen bond involving the ring nitrogen-2 atom of the isoquinoline must be preserved, but that the ring can flip depending on the chemical substituents at ring positions 5 and 8. Selectivity for individual members of the protein kinase family is achieved primarily by interactions with these substituents.

Relevância:

100.00% 100.00%

Publicador:

Resumo:

Background Lethal chondrodysplasia (bulldog syndrome) is a well-known congenital syndrome in cattle and occurs sporadically in many breeds. In 2015, it was noticed that about 12 % of the offspring of the phenotypically normal Danish Holstein sire VH Cadiz Captivo showed chondrodysplasia resembling previously reported bulldog calves. Pedigree analysis of affected calves did not display obvious inbreeding to a common ancestor, suggesting the causative allele was not a rare recessive. The normal phenotype of the sire suggested a dominant inheritance with incomplete penetrance or a mosaic mutation. Results Three malformed calves were examined by necropsy, histopathology, radiology, and computed tomography scanning. These calves were morphologically similar and displayed severe disproportionate dwarfism and reduced body weight. The syndrome was characterized by shortening and compression of the body due to reduced length of the spine and the long bones of the limbs. The vicerocranium had severe dysplasia and palatoschisis. The bones had small irregular diaphyses and enlarged epiphyses consisting only of chondroid tissue. The sire and a total of four affected half-sib offspring and their dams were genotyped with the BovineHD SNP array to map the defect in the genome. Significant genetic linkage was obtained for several regions of the bovine genome including chromosome 5 where whole genome sequencing of an affected calf revealed a COL2A1 point mutation (g.32473300 G > A). This private sequence variant was predicted to affect splicing as it altered the conserved splice donor sequence GT at the 5’-end of COL2A1 intron 36, which was changed to AT. All five available cases carried the mutant allele in heterozygous state and all five dams were homozygous wild type. The sire VH Cadiz Captivo was shown to be a gonadal and somatic mosaic as assessed by the presence of the mutant allele at levels of about 5 % in peripheral blood and 15 % in semen. Conclusions The phenotypic and genetic findings are comparable to a previously reported COL2A1 missense mutation underlying lethal chondrodysplasia in the offspring of a mosaic French Holstein sire (Igale Masc). The identified independent spontaneous splice site variant in COL2A1 most likely caused chondrodysplasia and must have occurred during the early foetal development of the sire. This study provides a first example of a dominant COL2A1 splice site variant as candidate causal mutation of a severe lethal chondrodysplasia phenotype. Germline mosaicism is a relatively frequent mechanism in the origin of genetic disorders and explains the prevalence of a certain fraction of affected offspring. Paternal dominant de novo mutations are a risk in cattle breeding, especially because the ratio of defective offspring may be very high and be associated with significant animal welfare problems.

Relevância:

100.00% 100.00%

Publicador:

Resumo:

Background - Specific language impairment (SLI) is a common neurodevelopmental disorder, observed in 5–10 % of children. Family and twin studies suggest a strong genetic component, but relatively few candidate genes have been reported to date. A recent genome-wide association study (GWAS) described the first statistically significant association specifically for a SLI cohort between a missense variant (rs4280164) in the NOP9 gene and language-related phenotypes under a parent-of-origin model. Replications of these findings are particularly challenging because the availability of parental DNA is required. Methods - We used two independent family-based cohorts characterised with reading- and language-related traits: a longitudinal cohort (n = 106 informative families) including children with language and reading difficulties and a nuclear family cohort (n = 264 families) selected for dyslexia. Results - We observed association with language-related measures when modelling for parent-of-origin effects at the NOP9 locus in both cohorts: minimum P = 0.001 for phonological awareness with a paternal effect in the first cohort and minimum P = 0.0004 for irregular word reading with a maternal effect in the second cohort. Allelic and parental trends were not consistent when compared to the original study. Conclusions - A parent-of-origin effect at this locus was detected in both cohorts, albeit with different trends. These findings contribute in interpreting the original GWAS report and support further investigations of the NOP9 locus and its role in language-related traits. A systematic evaluation of parent-of-origin effects in genetic association studies has the potential to reveal novel mechanisms underlying complex traits.

Relevância:

100.00% 100.00%

Publicador:

Resumo:

Introduction: Family members including children are all impacted by a family member’s mental illness. Although mental health services are increasingly encouraged to engage in family-focused practice, this is not a well-understood concept or practice in mental health care. Methods: An integrative review using systematic methods was conducted with international literature, with the aim of identifying concepts and practices of family-focused practice in child and youth and adult mental health services. Results: Findings from 40 peer-reviewed literature identified a range of understandings and applications of family-focused practice, including who comprises the ‘family’, whether the focus is family of origin or family of procreation or choice, and whether the context of practice is child and youth or adult. ‘Family’ as defined by its members forms the foundation for practice that aims to provide a whole-of-family approach to care. Six core practices comprise a family focus to care: assessment; psychoeducation; family care planning and goal-setting; liaison between families and services; instrumental, emotional and social support; and a coordinated system of care between families and services. Conclusion: By incorporating key principles and the core family-focused practices into their care delivery, clinicians can facilitate a whole-of-family approach to care and strengthen family members’ wellbeing and resilience, and their individual and collective health outcomes.

Relevância:

100.00% 100.00%

Publicador:

Resumo:

Eleven density functionals are compared with regard to their performance for the lattice constants of solids. We consider standard functionals, such as the local-density approximation and the Perdew-Burke-Ernzerhof (PBE) generalized-gradient approximation (GGA), as well as variations of PBE GGA, such as PBEsol and similar functionals, PBE-type functionals employing a tighter Lieb-Oxford bound, and combinations thereof. On a test set of 60 solids, we perform a system-by-system analysis for selected functionals and a full statistical analysis for all of them. The impact of restoring the gradient expansion and of tightening the Lieb-Oxford bound is discussed, and confronted with previous results obtained from other codes, functionals or test sets. No functional is uniformly good for all investigated systems, but surprisingly, and pleasingly, the simplest possible modifications to PBE turn out to have the most beneficial effect on its performance. The atomization energy of molecules was also considered and on a testing set of six molecules, we found that the PBE functional is clearly the best, the others leading to strong overbinding.

Relevância:

100.00% 100.00%

Publicador:

Resumo:

Multipulse rectifier topologies based on autoconnections are increasingly applied as interface stages between mains and power electronics converters. These topologies are attractive and cost-effective solutions for meeting the requirements of low total harmonic distortion of line current and high power factor. Furthermore, as only a small fraction of the total power required by the load is processed in the magnetic core, the overall resulting volume and weight are reduced. This paper proposes a mathematical analysis based on phasor diagrams that results in a single and general expression capable of unifying all delta and wye step-up or step-down autotransformer connections for 12-and 18-pulse ac-dc converters. The expression obtained allows the choice of a wide range of input/output voltage ratio for step-up or step-down autotransformer, and this general expression is also presented in a graphical form for each converter. Moreover, it simplifies the procedure for determining turn ratios and polarities for all windings of the autotransformer. A routine for easy and fast calculations is developed and validated by a design example. Finally, experimental results are presented along with comments on a 6-kW 220-V line voltage, 400-V rectified voltage, and 18-pulse delta-autoconnected prototype.

Relevância:

100.00% 100.00%

Publicador:

Resumo:

For the last decade, elliptic curve cryptography has gained increasing interest in industry and in the academic community. This is especially due to the high level of security it provides with relatively small keys and to its ability to create very efficient and multifunctional cryptographic schemes by means of bilinear pairings. Pairings require pairing-friendly elliptic curves and among the possible choices, Barreto-Naehrig (BN) curves arguably constitute one of the most versatile families. In this paper, we further expand the potential of the BN curve family. We describe BN curves that are not only computationally very simple to generate, but also specially suitable for efficient implementation on a very broad range of scenarios. We also present implementation results of the optimal ate pairing using such a curve defined over a 254-bit prime field. (C) 2001 Elsevier Inc. All rights reserved.

Relevância:

100.00% 100.00%

Publicador:

Resumo:

Several macrocyclic peptides (similar to 30 amino acids), with diverse biological activities, have been isolated from the Rubiaceae and Violaceae plant families over recent years. We have significantly expanded the range of known macrocyclic peptides with the discovery of 16 novel peptides from extracts of Viola hederaceae, Viola odorata and Oldenlandia affinis. The Viola plants had not previously been examined for these peptides and thus represent novel species in which these unusual macrocyclic peptides are produced. Further, we have determined the three-dimensional struc ture of one of these novel peptides, cycloviolacin O1, using H-1 NMR spectroscopy. The structure consists of a distorted triple-stranded beta-sheet and a cystine-knot arrangement of the disulfide bonds. This structure is similar to kalata B1 and circulin A, the only two macrocyclic peptides for which a structure was available, suggesting that despite the sequence variation throughout the peptides they form a family in which the overall fold is conserved. We refer to these peptides as the cyclotide family and their embedded topology as the cyclic cystine knot (CCK) motif. The unique cyclic and knotted nature of these molecules makes them a fascinating example of topologically complex proteins. Examination of the sequences reveals they can be separated into two subfamilies, one of which tends to contain a larger number of positively charged residues and has a bracelet-like circularization of the backbone. The second subfamily contains a backbone twist due to a cis-Pro peptide bond and may conceptually be regarded as a molecular Moebius strip. Here we define the structural features of the two apparent subfamilies of the CCK peptides which may be significant for the likely defense related role of these peptides within plants. (C) 1999 Academic Press.