Search Results - "Radmilovic, Milena"
-
1
influence of novel transcriptional regulatory element in intron 14 on the expression of Janus kinase 2 gene in myeloproliferative neoplasms
Published in Journal of applied genetics (01-02-2013)“…The expression of Janus kinase 2 (JAK2) gene is altered in myeloproliferative neoplasms (MPN) and the regulation of transcription could be a mechanism that…”
Get full text
Journal Article -
2
Mutations in the PAH gene: A Tool for population genetics study
Published in Archives of biological sciences (2007)“…Phenylketonuria (PKU), an inborn error of metabolism, is caused by mutations in the phenylalanine hydroxylase (PAH) gene. In the Serbian population, 19…”
Get full text
Journal Article -
3
Functional analysis of a novel KLF1 gene promoter variation associated with hereditary persistence of fetal hemoglobin
Published in Annals of hematology (2013)“…Hereditary persistence of fetal hemoglobin (HPFH) is a rare hereditary condition resulting in elevated levels of fetal hemoglobin (HbF) in adults. Typical HPFH…”
Get full text
Journal Article -
4
Functional analysis of the role of the TPMT gene promoter VNTR polymorphism in TPMT gene transcription
Published in Pharmacogenomics (01-04-2010)“…Thiopurine S-methyltransferase (TPMT) activity is polymorphic, and a trimodal distribution has been demonstrated in Caucasians (low, intermediate and high…”
Get more information
Journal Article -
5
Genomic variation in the MAP3K5 gene is associated with β-thalassemia disease severity and hydroxyurea treatment efficacy
Published in Pharmacogenomics (01-04-2013)“…In this study we explored the association between genetic variations in MAP3K5 and PDE7B genes, residing on chromosome 6q23, and disease severity in…”
Get more information
Journal Article -
6
6-mercaptopurine influences TPMT gene transcription in a TPMT gene promoter variable number of tandem repeats-dependent manner
Published in Pharmacogenomics (01-02-2012)“…TPMT activity is characterized by a trimodal distribution, namely low, intermediate and high methylator. TPMT gene promoter contains a variable number of…”
Get more information
Journal Article -
7
Prognostic impact of NPM1 mutations in Serbian adult patients with acute myeloid leukemia
Published in Acta haematologica (01-01-2012)“…Based on current findings, the presence of NPM1 mutations in acute myeloid leukemia (AML) patients is associated with an increased probability of complete…”
Get more information
Journal Article -
8
Thalassemia Syndromes in Serbia: An update
Published in Hemoglobin (01-10-2010)“…Thalassemia syndromes constitute a group of genetic disorders, widespread throughout the world. The present study contains data on thalassemia syndromes and…”
Get full text
Journal Article -
9
Systematic documentation and analysis of human genetic variation using the microattribution approach
Published in Nature genetics (20-03-2011)“…We developed a series of interrelated locus-specific databases to store all published and unpublished genetic variation related to these disorders, and then…”
Get full text
Journal Article -
10
Compound heterozygosity for the Cretan type of non-deletional hereditary persistence of fetal hemoglobin and β-thalassemia or Hb Sabine confirms the functional role of the Aγ − 158 C > T mutation in γ-globin gene transcription
Published in Blood cells, molecules, & diseases (01-11-2008)Get full text
Journal Article -
11
Compound heterozygosity for the Cretan type of non-deletional hereditary persistence of fetal hemoglobin and beta-thalassemia or Hb Sabine confirms the functional role of the Agamma -158 C>T mutation in gamma-globin gene transcription
Published in Blood cells, molecules, & diseases (01-11-2008)Get full text
Journal Article