On Parabolic Subgroups and Hecke Algebras of some Fractal Groups

* The authors thank the “Swiss National Science Foundation” for its support.

Groups with the Minimal Condition on Non-“Nilpotent-by-Finite” Subgroups

We characterize the groups which do not have non-trivial perfect sections and such that any strictly descending chain of non-“nilpotent-by-finite” subgroups is finite.

Sylow P-Subgroups of Abelian Group Rings

2000 Mathematics Subject Classification: Primary 20C07, 20K10, 20K20, 20K21; Secondary 16U60, 16S34.

Kneser and Hereditarily Kneser Subgroups of a Profinite Group

2000 Mathematics Subject Classification: 20E18, 12G05, 12F10, 12F99.

Finite Groups as the Union of Proper Subgroups

2000 Mathematics Subject Classification: 20D60,20E15.

Centralizers of normal subgroups and the Z*-theorem

Peer reviewed

Centralizers of normal subgroups and the Z*-theorem

Peer reviewed

Centralizers of normal subgroups and the Z*-theorem

Peer reviewed

Searching for Predictive Subgroups

Thesis (Ph.D.)--University of Washington, 2016-08

Social engagement and adaptive functioning during early childhood: Identifying and distinguishing among subgroups differing with regard to social engagement

This study tested the hypothesis that social engagement (SE) with peers is a fundamental aspect of social competence during early childhood. Relations between SE and a set of previously validated social competence indicators, as well as additional variables derived from observation and sociometric interviews were assessed using both variable-centered and person-centered approaches (N = 1453, 696 girls) in 4 samples (3 U.S.A., 1 Portuguese). Directly observed SE was positively associated with broad-band measures of socially competent behavior, peer acceptance, being a target of peers' attention, and also with broad-band personality dimensions. Using individual Q-items significantly associated with SE in 3 of our 4 samples, a hierarchical cluster analysis yielded a 5-cluster solution that grouped cases efficiently. Tests on relations between cluster membership and the set of social competence and other variables revealed significant main effects of cluster membership in the full sample and within each individual sample, separately. With the exception of tests for peer negative preference, children in the lowest SE cluster also had significantly lower overall social competence, personality functioning scores than did children in higher SE clusters.

Social engagement and adaptive functioning during early childhood: Identifying and distinguishing among subgroups differing with regard to social engagement

Materia Suplementar disponível em: http://dx.doi.org/10.1037/dev0000142.supp

Membrane associated transporter protein gene (SLC45A2) and the genetic basis of normal human pigmentation variation

This work is concerned with the genetic basis of normal human pigmentation variation. Specifically, the role of polymorphisms within the solute carrier family 45 member 2 (SLC45A2 or membrane associated transporter protein; MATP) gene were investigated with respect to variation in hair, skin and eye colour ― both between and within populations. SLC45A2 is an important regulator of melanin production and mutations in the gene underly the most recently identified form of oculocutaneous albinism. There is evidence to suggest that non-synonymous polymorphisms in SLC45A2 are associated with normal pigmentation variation between populations. Therefore, the underlying hypothesis of this thesis is that polymorphisms in SLC45A2 will alter the function or regulation of the protein, thereby altering the important role it plays in melanogenesis and providing a mechanism for normal pigmentation variation. In order to investigate the role that SLC45A2 polymorphisms play in human pigmentation variation, a DNA database was established which collected pigmentation phenotypic information and blood samples of more than 700 individuals. This database was used as the foundation for two association studies outlined in this thesis, the first of which involved genotyping two previously-described non-synonymous polymorphisms, p.Glu272Lys and p.Phe374Leu, in four different population groups. For both polymorphisms, allele frequencies were significantly different between population groups and the 272Lys and 374Leu alleles were strongly associated with black hair, brown eyes and olive skin colour in Caucasians. This was the first report to show that SLC45A2 polymorphisms were associated with normal human intra-population pigmentation variation. The second association study involved genotyping several SLC45A2 promoter polymorphisms to determine if they also played a role in pigmentation variation. Firstly, the transcription start site (TSS), and hence putative proximal promoter region, was identified using 5' RNA ligase mediated rapid amplification of cDNA ends (RLM-RACE). Two alternate TSSs were identified and the putative promoter region was screened for novel polymorphisms using denaturing high performance liquid chromatography (dHPLC). A novel duplication (c.–1176_–1174dupAAT) was identified along with other previously described single nucleotide polymorphisms (c.–1721C>G and c.–1169G>A). Strong linkage disequilibrium ensured that all three polymorphisms were associated with skin colour such that the –1721G, +dup and –1169A alleles were associated with olive skin in Caucasians. No linkage disequilibrium was observed between the promoter and coding region polymorphisms, suggesting independent effects. The association analyses were complemented with functional data, showing that the –1721G, +dup and –1169A alleles significantly decreased SLC45A2 transcriptional activity. Based on in silico bioinformatic analysis that showed these alleles remove a microphthalmia-associated transcription factor (MITF) binding site, and that MITF is a known regulator of SLC45A2 (Baxter and Pavan, 2002; Du and Fisher, 2002), it was postulated that SLC45A2 promoter polymorphisms could contribute to the regulation of pigmentation by altering MITF binding affinity. Further characterisation of the SLC45A2 promoter was carried out using luciferase reporter assays to determine the transcriptional activity of different regions of the promoter. Five constructs were designed of increasing length and their promoter activity evaluated. Constitutive promoter activity was observed within the first ~200 bp and promoter activity increased as the construct size increased. The functional impact of the –1721G, +dup and –1169A alleles, which removed a MITF consensus binding site, were assessed using electrophoretic mobility shift assays (EMSA) and expression analysis of genotyped melanoblast and melanocyte cell lines. EMSA results confirmed that the promoter polymorphisms affected DNA-protein binding. Interestingly, however, the protein/s involved were not MITF, or at least MITF was not the protein directly binding to the DNA. In an effort to more thoroughly characterise the functional consequences of SLC45A2 promoter polymorphisms, the mRNA expression levels of SLC45A2 and MITF were determined in melanocyte/melanoblast cell lines. Based on SLC45A2’s role in processing and trafficking TYRP1 from the trans-Golgi network to stage 2 melanosmes, the mRNA expression of TYRP1 was also investigated. Expression results suggested a coordinated expression of pigmentation genes. This thesis has substantially contributed to the field of pigmentation by showing that SLC45A2 polymorphisms not only show allele frequency differences between population groups, but also contribute to normal pigmentation variation within a Caucasian population. In addition, promoter polymorphisms have been shown to have functional consequences for SLC45A2 transcription and the expression of other pigmentation genes. Combined, the data presented in this work supports the notion that SLC45A2 is an important contributor to normal pigmentation variation and should be the target of further research to elucidate its role in determining pigmentation phenotypes. Understanding SLC45A2’s function may lead to the development of therapeutic interventions for oculocutaneous albinism and other disorders of pigmentation. It may also help in our understanding of skin cancer susceptibility and evolutionary adaptation to different UV environments, and contribute to the forensic application of pigmentation phenotype prediction.

The relationship between deformity correction and clinical outcomes after thoracoscopic scoliosis surgery

Surgical treatment of scoliosis is quantitatively assessed in the clinic using radiographic measures of deformity correction, as well as the rib hump, but it is important to understand the extent to which these quantitative measures correlate with self-reported improvements in patients’ quality of life following surgery. The purpose of this prospective study was to evaluate the relationship between clinical outcomes of thoracoscopic anterior scoliosis surgery and deformity correction using the Scoliosis Research Society questionnaire (SRS-24). Patients undergoing thoracoscopic anterior scoliosis correction report good SRS scores which are comparable to those reported in previous studies for both open and thoracoscopic scoliosis correction procedures. Major Cobb correction is a significant predictor of patient satisfaction when comparing subgroups of patients with the highest and lowest major curve corrections.