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9 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 ...

Looking beyond the brain to improve the pathogenic understanding of Parkinson’s disease: implications of whole transcriptome profiling of Patients’ skin

Lille Kurvits Ene Reimann Liis Kadastik-Eerme Külli Kingo Sulev Kõks Pille Taba 0 North-Estonian Medical Centre , Sütiste Rd.19, Tallinn 13419 , Estonia Background: Parkinson's Disease is a progressive

C14orf132 gene is possibly related to extremely low birth weight

Background Despite extensive research the genetic component of extremely low birth weight (ELBW) in newborns has remained obscure. Results The aim of the case study was to identify candidate gene(s) causing ELBW in newborns and hypotrophy in infants. A family of four was studied: mother, father and two ELBW-phenotype children. Studies were made of the medical conditions of the ...

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 ...

Transcriptional landscape of psoriasis identifies the involvement of IL36 and IL36RN

, Kristi Abram) and institutional research funding IUT (IUT20-46, Sulev Kks, Ene Reimann) of the Estonian Ministry of Education and Research, by the Centre of Translational Genomics of University of Tartu

Melanocytes in the Skin – Comparative Whole Transcriptome Analysis of Main Skin Cell Types

Melanocytes possess several functions besides a role in pigment synthesis, but detailed characteristics of the cells are still unclear. We used whole transcriptome sequencing (RNA-Seq) to assess differential gene expression of cultivated normal human melanocytes with respect to keratinocytes, fibroblasts and whole skin. The present results reveal cultivated melanocytes as highly ...

Promoter polymorphism -119C/G in MYG1 (C12orf10) gene is related to vitiligo susceptibility and Arg4Gln affects mitochondrial entrance of Myg1

Background MYG1 (Melanocyte proliferating gene 1, also C12orf10 in human) is a ubiquitous nucleo-mitochondrial protein, involved in early developmental processes and in adult stress/illness conditions. We recently showed that MYG1 mRNA expression is elevated in the skin of vitiligo patients. Our aim was to examine nine known polymorphisms in the MYG1 gene, to investigate their ...