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Search: authors:"Katre Maasalu"

7 papers found.
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Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients

Osteogenesis imperfecta (OI) is a rare bone disorder. In 90% of cases, OI is caused by mutations in the COL1A1/2 genes, which code procollagen α1 and α2 chains. The main aim of the current research was to identify the mutational spectrum of COL1A1/2 genes in Estonian patients. The small population size of Estonia provides a unique chance to explore the collagen I mutational profile ...

Longitudinal associations between bone and adipose tissue biochemical markers with bone mineralization in boys during puberty

Background We investigated longitudinal relationships between the biochemical markers of bone and adipose tissue with bone mineral content (BMC), bone mineral density (BMD), moderate-to-vigorous physical activity (MVPA) and sedentary time (SED) in pubertal boys. Methods Ninety-six boys (11.9 ± 0.6 years old) were measured at baseline, after 12 and 24 months. Body composition (fat ...

Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta

Background The genetics of osteogenesis imperfecta (OI) have not been studied in a Vietnamese population before. We performed mutational analysis of the COL1A1 and COL1A2 genes in 91 unrelated OI patients of Vietnamese origin. We then systematically characterized the mutation profiles of these two genes which are most commonly related to OI. Methods Genomic DNA was extracted from ...

Whole exome sequencing of a single osteosarcoma case—integrative analysis with whole transcriptome RNA-seq data

Background Osteosarcoma (OS) is a prevalent primary malignant bone tumour with unknown etiology. These highly metastasizing tumours are among the most frequent causes of cancer-related deaths. Thus, there is an urgent need for different markers, and with our study, we were aiming towards finding novel biomarkers for OS. Methods For that, we analysed the whole exome of the tumorous ...

Laminin-rich blood vessels display activated growth factor signaling and act as the proliferation centers in Dupuytren’s contracture

Introduction Dupuytren’s contracture (DC) is a chronic fibroproliferative disease of the hand, which is characterized by uncontrolled proliferation of atypical myofibroblasts at the cellular level. We hypothesized that specific areas of the DC tissue are sustaining the cell proliferation and studied the potential molecular determinants that might contribute to the formation of such ...

Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta

Background Osteogenesis imperfecta (OI) comprises a clinically and genetically heterogeneous group of connective tissue disorders, characterized by low bone mass, increased bone fragility, and blue-gray eye sclera. OI often results from missense mutations in one of the conserved glycine residues present in the Gly-X-Y sequence repeats of the triple helical region of the collagen ...

Physical Activity and Bone Mineral Accrual in Boys with Different Body Mass Parameters during Puberty: A Longitudinal Study

The aim of our longitudinal study was to investigate the relationships between physical activity and bone mass in boys with different body mass status during the years surrounding pubertal growth spurt. Two hundred and six boys entering puberty took part in this study. The subjects were divided into underweight (), normal weight (), overweight () and obese () groups at baseline ...