Página 1 dos resultados de 15338 itens digitais encontrados em 0.046 segundos

Experiência paterna em diferentes configurações familiares e o desenvolvimento do self infantil; Paternal experience in different family configurations and the development of the child"s self

Scaglia, Andressa Pin
Fonte: Biblioteca Digitais de Teses e Dissertações da USP Publicador: Biblioteca Digitais de Teses e Dissertações da USP
Tipo: Dissertação de Mestrado Formato: application/pdf
Publicado em 10/12/2012 PT
Relevância na Pesquisa
45.73%
A família ocupa um lugar de grande importância no desenvolvimento físico, emocional e é fundamental na compreensão dos distúrbios psicológicos dos filhos. Apesar do grande destaque dado ao papel materno, o pai também possui significativa influência no desenvolvimento de seus filhos. Porém, diante das alterações rápidas e constantes da sociedade contemporânea, observa-se uma diversificação do comportamento paterno, assinalando um processo de redefinição/indefinição de seu papel. Nesse sentido, o objetivo da presente pesquisa foi de compreender o modo como pais inseridos em diferentes configurações familiares experimentam a função paterna, associando suas vivências ao desenvolvimento do Self de suas filhas. Participaram da pesquisa oito díades pais-filhas, advindas de diferentes arranjos familiares. As crianças são do sexo feminino, primogênitas, com idade entre quatro e sete anos. Tanto no encontro com o pai quanto no da menina, foi realizada uma entrevista semiestruturada mediada por 5 cartões do Teste de Apercepção Temática Infantil - CAT-A (1, 2, 3, 4, 8) empregado de forma compreensiva, com foco na experiência humana intersubjetiva. A estratégia metodológica para trabalhar com o acontecer clínico foi a das "Narrativas Psicanalíticas". Efetuou-se...

O desenvolvimento emocional de um bebê em uma família numerosa : uma aplicação do método bick

Vivian, Aline Groff
Fonte: Universidade Federal do Rio Grande do Sul Publicador: Universidade Federal do Rio Grande do Sul
Tipo: Dissertação Formato: application/pdf
POR
Relevância na Pesquisa
45.81%
O presente estudo investigou o desenvolvimento emocional durante o primeiro ano de vida de um bebê, em uma família numerosa. Foi realizado um estudo de caso único, de caráter longitudinal, com uma família participante composta pela mãe, pelo pai e seus quatro filhos meninos, de até 4 anos de idade, acompanhada em observações semanais, com uma hora de duração, no período de doze meses. Foi aplicado o Método Bick de Observação da Relação Mãe- Bebê, em seus três momentos: observação, relato e supervisão em grupo. Os resultados foram organizados em três eixos: 1) o bebê e seu ambiente; 2) o desenvolvimento emocional do bebê; e 3) a observadora. Apesar das condições economicamente desfavoráveis do ambiente, foi surpreendente o desenvolvimento emocional do bebê na família, bem como a riqueza do ambiente em termos emocionais. A mãe se mostrou atenta e afetiva no cuidado dos filhos, apresentando uma capacidade inesgotável de discernir e atender às múltiplas demandas dos mesmos, revelando sua preponderante identidade materna. O bebê recebia especial atenção e a mãe costumava relatar suas habilidades e aquisições ao longo do primeiro ano de vida. Alguns aspectos típicos do desenvolvimento de um bebê no primeiro ano de vida foram observados...

Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family

Alonso, I.; Barros, J.; Tuna, A.; Coelho, J.; Sequeira, J.; Silveira, I.; Coutinho, P.
Fonte: American Medical Association Publicador: American Medical Association
Tipo: Artigo de Revista Científica
Publicado em /04/2003 ENG
Relevância na Pesquisa
45.82%
Background: Different mutations in the 1A-subunit of the brain P/Q-type calcium channel gene (CACNA1A) are responsible for familial hemiplegic migraine (FHM), episodic ataxia type 2, and spinocerebellar ataxia type 6 (SCA6). Missense and splice site mutations have been found in FHM and episodic ataxia type 2, respectively, whereas a CAG repeat in the CACNA1A gene was found expanded in patients with SCA6. Objective: To identify the disease causing mutation in a large family of patients with phenotypes of hemiplegic migraine with or without cerebellar signs or permanent cerebellar ataxia without migraine inherited in a dominant manner. Patients and Methods: We examined 15 patients from a large family identified through a systematic survey of hereditary ataxias being conducted in Portugal. Linkage analysis was performed with CACNA1A gene markers, and mutation analysis was performed by single strand conformational polymorphism analysis and sequencing. Results: Genetic linkage analysis with CACNA1A intragenic markers showed positive LOD scores. The maximal LOD score was obtained with the polymorphic CAG repeat (Zmax=4.47, =0). By single-strand conformational polymorphism analysis, a shift in exon 13 of the CACNA1A gene was detected in all patients.AG-to-A substitution was then identified...

Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil

Valadares,Eugênia Ribeiro; Pizarro,Mayara Xavier; Oliveira,Luiz Roberto; Amorim,Regina Helena Caldas de; Pinheiro,Tarcísio Márcio Magalhães; Grieben,Ulrike; Santos,Helena Hollanda; Queiroz,Rachel Rabelo; Lopes,Guilherme de Castro; Godard,Ana Lúcia Br
Fonte: Academia Brasileira de Neurologia - ABNEURO Publicador: Academia Brasileira de Neurologia - ABNEURO
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/02/2011 EN
Relevância na Pesquisa
45.84%
OBJECTIVE: Juvenile Neuronal Ceroid-Lipofuscinosis (JNCL, CLN 3, Batten Disease) (OMIM #204200) belongs to the most common group of neurodegenerative disorders of childhood. We report the clinical data and molecular analysis of a large Brazilian family. METHOD: Family composed of two consanguineous couples and thirty-two children. Clinical data of ten JNCL patients and molecular analyses on 13 participants were obtained. RESULTS: The large 1.02 kb deletion was detected. The most severe phenotype, with autistic behavior, tics and parkinsonism was seen in a 12-year-old female and a milder phenotype in a 14-year-old male. Nyctalopia was the first symptom in one deceased child. The visual loss of six patients has been first observed in the school and not at home. CONCLUSION: The report highlights the phenotypical intrafamily variation in 10 affected children of this family. The molecular investigation of this large family in our metabolic center turned possible the diagnosis, right approach and genetic counseling.

Adaptive diversification within a large family of recently duplicated, placentally expressed genes

Hughes, Austin L.; Green, Jonathan A.; Garbayo, Juana M.; Roberts, R. Michael
Fonte: The National Academy of Sciences Publicador: The National Academy of Sciences
Tipo: Artigo de Revista Científica
EN
Relevância na Pesquisa
45.72%
The pregnancy-associated glycoproteins (PAG) are putative peptide-binding proteins and products of a large family of genes whose expression is localized to the placental surface epithelium of artiodactyl species. We have tested the hypothesis that natural selection has favored diversification of these genes by examining patterns of nucleotide substitution in a sample of 28 closely related bovine, caprine, and ovine family members that are expressed only in trophoblast binucleate cells. Three observations were made. First, in codons encoding highly variable domains of the proteins, there was a greater accumulation of both synonymous and nonsynonymous mutations than in the more conserved regions of the genes. Second, in the variable regions, the mean number of nonsynonymous nucleotide substitutions per site was significantly greater than the mean number of synonymous substitutions per site. Third, nonsynonymous changes affecting amino acid charge occurred more frequently than expected under random substitution. This unusual pattern of nucleotide substitution implies that natural selection has acted to diversify these PAG molecules at the amino acid level, which in turn suggests that these molecules have undergone functional diversification. We estimate that the binucleate cell-expressed PAG originated 52 ± 6 million years ago...

A novel type of class I gene organization in vertebrates: a large family of non-MHC-linked class I genes is expressed at the RNA level in the amphibian Xenopus.

Flajnik, M F; Kasahara, M; Shum, B P; Salter-Cid, L; Taylor, E; Du Pasquier, L
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /11/1993 EN
Relevância na Pesquisa
45.72%
A Xenopus class I cDNA clone, isolated from a cDNA expression library using antisera, is a member of a large family of non-classical class I genes (class Ib) composed of at least nine subfamilies, all of which are expressed at the RNA level. The subfamilies are well conserved in their immunoglobulin-like alpha 3 domains, but their peptide-binding regions (PBRs) and cytoplasmic domains are very divergent. In contrast to the great allelic diversity found in the PBR of classical class I genes, the alleles of one of the Xenopus non-classical subfamilies are extremely well conserved in all regions. Several of the invariant amino acids essential for the anchoring of peptides in the classical class I groove are not conserved in some subfamilies, but the class Ib genes are nevertheless more closely related in the PBR to classical and non-classical genes linked to the MHC in mammals and birds than to any other described class I genes like CD1 and the neonatal rat intestinal Fc receptor. Comparison with the Xenopus MHC-linked class Ia protein indicate that amino acids presumed to interact with beta 2-microglobulin are identical or conservatively changed in the two major class I families. Genomic analyses of Xenopus species suggest that the classical and non-classical families diverged from a common ancestor before the emergence of the genus Xenopus over 100 million years ago; all of the non-classical genes appear to be linked on a chromosome distinct from the one harboring the MHC. We hypothesize that this class Ib gene family is under very different selection pressures from the classical MHC genes...

Crystal structure of a disulfide-linked "trefoil" motif found in a large family of putative growth factors.

De, A; Brown, D G; Gorman, M A; Carr, M; Sanderson, M R; Freemont, P S
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em 01/02/1994 EN
Relevância na Pesquisa
45.75%
Porcine pancreatic spasmolytic polypeptide (PSP) belongs to a large family of homologous growth factor-like polypeptides characterized by a disulfide-linked "trefoil motif," duplicated and conserved in various family members. PSP contains two trefoil motifs, has several pharmacological actions on the gut, and has growth factor properties on epithelial cells in vitro. The human PSP analogue, human spasmolytic polypeptide, appears to be involved in many regenerative situations and, especially, in healing gastrointestinal ulcers. One member of the trefoil family, pS2, is secreted in approximately 50% of estrogen-dependent human breast carcinomas, which has led to its use as a tumor prognostic marker. Both pS2 and human spasmolytic polypeptide are also widely expressed in chronic gastrointestinal ulcerative conditions such as Crohn disease. Here we report the three-dimensional structure at 2.6-A resolution of a trefoil-containing protein, namely PSP, purified from porcine pancreas. The structure shows two homologous domains that share a supersecondary structure and disulfide bond pattern. The two domains pack asymmetrically giving rise to a number of protruding loops, exposed clefts, and an unusual electrostatic surface potential. Knowledge of the structure of PSP should allow the design of mutants to investigate further the function of PSP and other trefoil-containing peptides.

A large family with patent ductus arteriosus and unusual face.

Davidson, H R
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /06/1993 EN
Relevância na Pesquisa
45.72%
A large family is described in which patent ductus arteriosus in association with an unusual facial appearance affected nine family members in three generations. The segregation pattern suggests autosomal dominant inheritance with incomplete penetrance with respect to the PDA. The facial features included a broad, high forehead, flat profile, and short nose with a broad, flattened tip.

The fragile X syndrome in a large family. II. Psychological investigations.

Veenema, H; Veenema, T; Geraedts, J P
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /01/1987 EN
Relevância na Pesquisa
45.72%
Intelligence levels and intelligence profiles were investigated in 52 members of a large family with the fragile X syndrome. The mental abilities were evaluated by the three Wechsler intelligence tests (WAIS, WISC-R, and WPPSI). Chromosomal and psychological data were then compared. In 22 non-retarded fra(X) negative family members, a mean IQ of 102 was found (males 97, females 106). Eleven non-retarded carrier females had IQs between 70 and 110 (mean 86.8), which is 20 points below the mean of normal women (alpha = 0.01). One non-retarded male with 6% fra(X) positive cells had an IQ of 98. His intelligence profile closely resembled the profile in the non-retarded female carriers. The highest IQ in the group of retarded males was 31. The mentally retarded females scored IQs between 26 and 41. In male and female patients verbal intelligence substantially exceeded performance abilities. There was a considerable gap between the highest IQ in the group of retarded females and the lowest IQ in the group of non-retarded carriers (41 and 71 respectively) and a considerable overlap was found between the IQ levels of the non-retarded carriers and normal women.

The fragile X syndrome in a large family. III. Investigations on linkage of flanking DNA markers with the fragile site Xq27.

Veenema, H; Carpenter, N J; Bakker, E; Hofker, M H; Ward, A M; Pearson, P L
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /07/1987 EN
Relevância na Pesquisa
45.72%
In a large family with the fragile X syndrome, we performed linkage investigations with six probes, detecting RFLPs at both sides of the fragile site Xq27. The nearest flanking markers were cX55.7 (DXS105) on the centromeric side (theta = 0.04, lod 5.0) and St14 (DXS52) on the telomeric side (theta = 0.08, lod 4.0). Non-penetrance could be shown by the presence of the grandpaternal X chromosome in three mentally retarded fra(X) positive males. A second non-penetrant male in this family had inherited an abnormal grandmaternal X chromosome. His carrier mother had two retarded fra(X) positive brothers. Intermediate between the non-penetrant and fully penetrant males was a non-retarded male, who expressed the fragile site in 6% of his cells. His X chromosome showed the same polymorphisms as were found in his seven severely retarded brothers. In five fra(X) negative females the presence of an abnormal X chromosome could be demonstrated. Despite the existence of non-penetrance in this pedigree, there was no close linkage between a factor IX polymorphism and the fragile site (theta = 0.16, lod 1.9). However, in six descendants of a non-penetrant male, the change to penetrance appeared to be accompanied by a low recombination frequency for flanking markers.

A large family of divergent Drosophila odorant-binding proteins expressed in gustatory and olfactory sensilla.

Galindo, K; Smith, D P
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /11/2001 EN
Relevância na Pesquisa
45.76%
We identified a large family of putative odorant-binding protein (OBP) genes in the genome of Drosophila melanogaster. Some of these genes are present in large clusters in the genome. Most members are expressed in various taste organs, including gustatory sensilla in the labellum, the pharyngeal labral sense organ, dorsal and ventral cibarial organs, as well as taste bristles located on the wings and tarsi. Some of the gustatory OBPs are expressed exclusively in taste organs, but most are expressed in both olfactory and gustatory sensilla. Multiple binding proteins can be coexpressed in the same gustatory sensillum. Cells in the tarsi that express OBPs are required for normal chemosensation mediated through the leg, as ablation of these cells dramatically reduces the sensitivity of the proboscis extension reflex to sucrose. Finally, we show that OBP genes expressed in the pharyngeal taste sensilla are still expressed in the poxneuro genetic background while OBPs expressed in the labellum are not. These findings support a broad role for members of the OBP family in gustation and olfaction and suggest that poxneuro is required for cell fate determination of labellar but not pharyngeal taste organs.

Coexistence of abnormalities of hepatic lipase and lipoprotein lipase in a large family.

Auwerx, J H; Babirak, S P; Hokanson, J E; Stahnke, G; Will, H; Deeb, S S; Brunzell, J D
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /03/1990 EN
Relevância na Pesquisa
45.72%
A large family is reported with familial hepatic triglyceride lipase (HTGL) deficiency and with the coexistence of reduced lipoprotein lipase (LPL) similar to the heterozygote state of LPL deficiency. The proband was initially detected because of hypertriglyceridemia and chylomicronemia. He was later demonstrated to have beta-VLDL despite an apo E3/E3 phenotype and the lack of stigmata of type III hyperlipoproteinemia. The proband had no HTGL activity in postheparin plasma. Two of his half-sisters had very low HTGL activity (39 and 31 nmol free fatty acids/min/ml; normal adult female greater than 44). His son and daughters had decreased HTGL activity (normal male and preadolescent female greater than 102), which would be expected in obligate heterozygotes for HTGL deficiency. Low HTGL activity was associated with LDL particles which were larger and more buoyant. Several family members, including the proband, had reduced LPL activity and mass less than that circumscribed by the 95% confidence-interval ellipse for normal subjects and had hyperlipidemia similar to that described in heterozygote relatives of patients with LPL deficiency. All the sibs with hyperlipidemia had a reduced LPL activity and mass, while subjects with isolated reduced HTGL (with normal LPL activity) had normal lipid phenotypes. Analysis of genomic DNA from these subjects by restriction-enzyme digestion revealed no major abnormalities in the structure of either the HTGL or the LPL gene. Compound heterozygotes for HTGL and LPL deficiency show lipoprotein physiological characteristics typical for HTGL deficiency...

Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data.

Hamel, B. C.; Smits, A. P.; de Graaff, E.; Smeets, D. F.; Schoute, F.; Eussen, B. H.; Knight, S. J.; Davies, K. E.; Assman-Hulsmans, C. F.; Oostra, B. A.
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /11/1994 EN
Relevância na Pesquisa
45.72%
During an ongoing study on X-linked mental retardation, we ascertained a large family in which mild mental retardation was cosegregating with a fragile site at Xq27-28. Clinical, psychometric, cytogenetic, and molecular studies were performed. Apart from mild mental retardation, affected males and females did not show a specific clinical phenotype. Psychometric assessment of four representative affected individuals revealed low academic achievements, with verbal and performance IQs of 61-75 and 70-82, respectively. Cytogenetically the fragile site was always present in affected males and was not always present in affected females. With FISH the fragile site was located within the FRAXE region. The expanded GCC repeat of FRAXE was seen in affected males and females either as a discrete band or as a broad smear. No expansion was seen in unaffected males, whereas three unaffected females did have an enlarged GCC repeat. Maternal transmission of FRAXE may lead to expansion or contraction of the GCC repeat length, whereas in all cases of paternal transmission contraction was seen. In striking contrast to the situation in fragile X syndrome, affected males may have affected daughters. In addition, there appears to be no premutation of the FRAXE GCC repeat...

The crystal structure of M. leprae ML2640c defines a large family of putative S-adenosylmethionine-dependent methyltransferases in mycobacteria

Graña, Martin; Haouz, Ahmed; Buschiazzo, Alejandro; Miras, Isabelle; Wehenkel, Annemarie; Bondet, Vincent; Shepard, William; Schaeffer, Francis; Cole, Stewart T.; Alzari, Pedro M.
Fonte: Cold Spring Harbor Laboratory Press Publicador: Cold Spring Harbor Laboratory Press
Tipo: Artigo de Revista Científica
Publicado em /09/2007 EN
Relevância na Pesquisa
45.81%
Mycobacterium leprae protein ML2640c belongs to a large family of conserved hypothetical proteins predominantly found in mycobacteria, some of them predicted as putative S-adenosylmethionine (AdoMet)-dependent methyltransferases (MTase). As part of a Structural Genomics initiative on conserved hypothetical proteins in pathogenic mycobacteria, we have determined the structure of ML2640c in two distinct crystal forms. As expected, ML2640c has a typical MTase core domain and binds the methyl donor substrate AdoMet in a manner consistent with other known members of this structural family. The putative acceptor substrate-binding site of ML2640c is a large internal cavity, mostly lined by aromatic and aliphatic side-chain residues, suggesting that a lipid-like molecule might be targeted for catalysis. A flap segment (residues 222–256), which isolates the binding site from the bulk solvent and is highly mobile in the crystal structures, could serve as a gateway to allow substrate entry and product release. The multiple sequence alignment of ML2640c-like proteins revealed that the central α/β core and the AdoMet-binding site are very well conserved within the family. However, the amino acid positions defining the binding site for the acceptor substrate display a higher variability...

Phenotype variability and neonatal diabetes in a large family with heterozygous mutation of the glucokinase gene

Borowiec, Maciej; Mysliwiec, Malgorzata; Fendler, Wojciech; Antosik, Karolina; Brandt, Agnieszka; Malecki, Maciej; Mlynarski, Wojciech
Fonte: Springer Milan Publicador: Springer Milan
Tipo: Artigo de Revista Científica
EN
Relevância na Pesquisa
45.75%
Monogenic diabetes caused by mutations in the glucokinase gene (GCK-MODY) is usually characterized by a mild clinical phenotype. The clinical course of diabetes may be, however, highly variable. The authors present a child with diabetes manifesting with ketoacidosis during the neonatal period, born in a large family with ten members bearing a heterozygous p.Gly223Ser mutation in GCK. DNA sequencing and multiplex ligation-dependent probe amplification were used to confirm GCK mutation and exclude other de novo mutations in other known genes associated with monogenic diabetes. Continuous glucose monitoring (CGM) was used to assess daily glycemic profiles. At the onset of diabetes the child had hyperglycemia 765 mg/dl with pH 7.09. Her glycated hemoglobin level was 8.6% (70.5 mmol/mol). The C-peptide level was below normal range (<0.5 pmol/ml) at onset, and the three- and 6-month follow-up examinations. Current evaluation at age 3 still showed unsatisfactory metabolic control with HbA1c level equal to 8.1% (65.0 mmol/mol). CGM data showed glucose concentrations profile similar to poorly controlled type 1 diabetes. The patient was confirmed to be heterozygous for the p.Gly223Ser mutation and did not show any point mutations or deletions within other monogenic diabetes genes. Other family members with p.Gly223Ser mutation had retained C-peptide levels and mild diabetes manageable with diet (five individuals)...

Clinical variability of the cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy phenotype in two siblings of a large family showing the same mutation

Vyshka, Gentian; Kruja, Jera
Fonte: Dove Medical Press Publicador: Dove Medical Press
Tipo: Artigo de Revista Científica
Publicado em 01/10/2013 EN
Relevância na Pesquisa
45.76%
A 44-year-old Albanian male was consulted and diagnosed with dementia. His magnetic resonance imaging suggested diffuse white matter changes. The suspicion of cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) was raised, and a genetic analysis confirmed such a suspicion through uncovering a pathogenic mutation at the level of exon 4 (c.475C>T) of chromosome 19. The patient came from a large family of 13 children, all of whom underwent clinical, genetic, and imaging examination. The pathogenic mutation was found present only in his eldest sister (50 years old), and she presented also very suggestive signs of CADASIL in her respective imaging study, but without any clinically significant counterpart. All other siblings were free from clinical and radiological signs of the disorder. Our opinion was that we were dealing with a mutation showing a very low level of penetrance, with only two siblings affected in a large Albanian family with 13 children.

Common Functions or Only Phylogenetically Related? The Large Family of PLAC8 Motif-Containing/PCR Genes

Song, Won-Yong; Hörtensteiner, Stefan; Tomioka, Rie; Lee, Youngsook; Martinoia, Enrico
Fonte: Korea Society for Molecular and Cellular Biology Publicador: Korea Society for Molecular and Cellular Biology
Tipo: Artigo de Revista Científica
Publicado em 31/01/2011 EN
Relevância na Pesquisa
45.79%
PLAC8 motif-containing proteins form a large family and members can be found in fungi, algae, higher plants and animals. They include the PCR proteins of plants. The name giving PLAC8 domain was originally found in a protein residing in the spongiotrophoblast layer of the placenta of mammals. A further motif found in a large number of these proteins including several PCR proteins is the CCXXXXCPC or CLXXXXCPC motif. Despite their wide distribution our knowledge about the function of these proteins is very limited. For most of them two membranespanning α-helices are predicted, indicating that they are membrane associated or membrane intrinsic proteins. In plants PLAC8 motif-containing proteins have been described to be implicated in two very different functions. On one hand, it has been shown that they are involved in the determination of fruit size and cell number. On the other hand, two members of this family, AtPCR1 and AtPCR2 play an important role in transport of heavy metals such as cadmium or zinc. Transport experiments and approaches to model the 3_D structure of these proteins indicate that they could act as transporters for these divalent cations by forming homomultimers. In this minireview we discuss the present knowledge about this protein family and try to give an outlook on how to integrate the different proposed functions into a common picture about the role of PLAC8 motif-containing proteins.

Detection of large scale 3′ deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything?

Clendenning, M.; Walsh, M.D.; Gelpi, J.B.; Thibodeau, S.N.; Lindor, N.; Potter, J.D.; Newcomb, P.; LeMarchand, L.; Haile, R.; Gallinger, S.; Colorectal Cancer Family Registry; Hopper, J.L.; Jenkins, M.A.; Rosty, C.; Young, J.P.; Buchanan, D.D.
Fonte: Springer Netherlands Publicador: Springer Netherlands
Tipo: Artigo de Revista Científica
Publicado em //2013 EN
Relevância na Pesquisa
45.76%
Current screening practices have been able to identify PMS2 mutations in 78 % of cases of colorectal cancer from the Colorectal Cancer Family Registry (Colon CFR) which showed solitary loss of the PMS2 protein. However the detection of large-scale deletions in the 3' end of the PMS2 gene has not been possible due to technical difficulties associated with pseudogene sequences. Here, we utilised a recently described MLPA/long-range PCR-based approach to screen the remaining 22 % (n = 16) of CRC-affected probands for mutations in the 3' end of the PMS2 gene. No deletions encompassing any or all of exons 12 through 15 were identified; therefore, our results suggest that 3' deletions in PMS2 are not a frequent occurrence in such families.; Mark Clendenning, Michael D. Walsh, Judith Balmana Gelpi, Stephen N. Thibodeau, Noralane Lindor, John D. Potter, Polly Newcomb, Loic LeMarchand, Robert Haile, Steve Gallinger, Colorectal Cancer Family Registry, John L. Hopper, Mark A. Jenkins, Christophe Rosty, Joanne P. Young, Daniel D. Buchanan

"O produtor familiar rural e a dinâmica econômica e social do espaço rural da região de Presidente Prudente nos anos 1980-90" ; "The rural family producer and the economic and social dynamics of rural space in Presidente Prudente region in the 1980's-90's"

Medeiros, Célia Maria Santos Vieira de
Fonte: Biblioteca Digitais de Teses e Dissertações da USP Publicador: Biblioteca Digitais de Teses e Dissertações da USP
Tipo: Tese de Doutorado Formato: application/pdf
Publicado em 27/02/2003 PT
Relevância na Pesquisa
45.73%
Essa pesquisa objetiva compreender a dinâmica espacial do Sudoeste Paulista, através de abordagem econômica e social do espaço rural, analisando e refletindo sobre o universo da produção agrícola familiar e as possibilidades futuras deste setor frente às políticas públicas, as possíveis mudanças no dinamismo regional, e os limites que os mesmos têm enfrentado com relação à estrutura fundiária, à produção, à comercialização, aos recursos financeiros, ao acesso à tecnologia, à assistência técnica, sua representação e atuação em associações, cooperativas, sindicatos e outras entidades. As áreas pesquisadas fazem parte do Escritório de Desenvolvimento Rural de Presidente Prudente, composto de 21 municípios, entre os estratos de área de até 100 hectares. No levantamento de campo foram entrevistados produtores rurais, destacando-se questões ligadas à unidade de produção, bem como à unidade social dos agricultores familiares. A região estudada, embora apresente, desde sua formação histórica, alta concentração fundiária de caráter capitalista, com predomínio da atividade pecuária de corte extensiva, não levou, necessariamente, ao desaparecimento das unidades de produção familiares, fossem elas pequenas ou médias. Tampouco levou a uma homogeneização da produção; antes...

Electron counting and a large family of two-dimensional semiconductors

Miao, Mao-sheng; Botana, Jorge; Liu, Jingyao; Yan, Wen
Fonte: Universidade Cornell Publicador: Universidade Cornell
Tipo: Artigo de Revista Científica
Publicado em 28/02/2015
Relevância na Pesquisa
45.76%
Comparing with the conventional semiconductors, the choice of the two dimensional semiconductor (2DSC) materials is very limited. Based on proper electron counting, we propose a large family of 2DSCs, all adopting the same structure and consisting of only main group elements. Using advanced density functional calculations, we demonstrate the attainability of these materials, and show that they cover a large range of lattice constants, band gaps and band edge states, therefore are good candidate materials for heterojunctions. This family of two dimensional materials may pave a way toward fabrication of 2DSC devices at the same thriving level as 3D semiconductors.