Myelodysplastic syndromes (MDS) are rare in children and only a few studies have analyzed their molecular mechanisms. The NPM1 gene encodes for nucleophosmin (NPM) which regulates hematopoiesis. Mutations in exon 12 of the NPM1 cause the nucleophosmin cytoplasmic dislocation and disrupt its functions. We have analyzed mutations of the NPM1 gene in archival bone marrow samples from 17 children with MDS and detected, in one patient, transition C to T in codon 293. To the best of our knowledge, this is the first analysis of NPM1 mutations in childhood MDS and the very first missense mutation of the NPM1 gene reported so far.
Keywords:
Myelodysplastic syndromes / nucleophosmin / NPM1 mutation / children
Source:
Archives of Biological Sciences, 2011, 63, 3, 649-653
TY - JOUR
AU - Jekić, Biljana
AU - Bunjevački, Vera
AU - Dobričić, Valerija
AU - Novaković, Ivana
AU - Milašin, Jelena
AU - Popović, Branka
AU - Damnjanović, Tatjana
AU - Maksimović, Nela
AU - Perović, V.
AU - Luković, Ljiljana
PY - 2011
UR - https://smile.stomf.bg.ac.rs/handle/123456789/1635
AB - Myelodysplastic syndromes (MDS) are rare in children and only a few studies have analyzed their molecular mechanisms. The NPM1 gene encodes for nucleophosmin (NPM) which regulates hematopoiesis. Mutations in exon 12 of the NPM1 cause the nucleophosmin cytoplasmic dislocation and disrupt its functions. We have analyzed mutations of the NPM1 gene in archival bone marrow samples from 17 children with MDS and detected, in one patient, transition C to T in codon 293. To the best of our knowledge, this is the first analysis of NPM1 mutations in childhood MDS and the very first missense mutation of the NPM1 gene reported so far.
PB - Srpsko biološko društvo, Beograd, i dr.
T2 - Archives of Biological Sciences
T1 - NPM1 gene mutations in children with Myelodysplastic syndromes
VL - 63
IS - 3
SP - 649
EP - 653
DO - 10.2298/ABS1103649J
ER -
@article{
author = "Jekić, Biljana and Bunjevački, Vera and Dobričić, Valerija and Novaković, Ivana and Milašin, Jelena and Popović, Branka and Damnjanović, Tatjana and Maksimović, Nela and Perović, V. and Luković, Ljiljana",
year = "2011",
abstract = "Myelodysplastic syndromes (MDS) are rare in children and only a few studies have analyzed their molecular mechanisms. The NPM1 gene encodes for nucleophosmin (NPM) which regulates hematopoiesis. Mutations in exon 12 of the NPM1 cause the nucleophosmin cytoplasmic dislocation and disrupt its functions. We have analyzed mutations of the NPM1 gene in archival bone marrow samples from 17 children with MDS and detected, in one patient, transition C to T in codon 293. To the best of our knowledge, this is the first analysis of NPM1 mutations in childhood MDS and the very first missense mutation of the NPM1 gene reported so far.",
publisher = "Srpsko biološko društvo, Beograd, i dr.",
journal = "Archives of Biological Sciences",
title = "NPM1 gene mutations in children with Myelodysplastic syndromes",
volume = "63",
number = "3",
pages = "649-653",
doi = "10.2298/ABS1103649J"
}
Jekić, B., Bunjevački, V., Dobričić, V., Novaković, I., Milašin, J., Popović, B., Damnjanović, T., Maksimović, N., Perović, V.,& Luković, L.. (2011). NPM1 gene mutations in children with Myelodysplastic syndromes. in Archives of Biological Sciences
Srpsko biološko društvo, Beograd, i dr.., 63(3), 649-653.
https://doi.org/10.2298/ABS1103649J
Jekić B, Bunjevački V, Dobričić V, Novaković I, Milašin J, Popović B, Damnjanović T, Maksimović N, Perović V, Luković L. NPM1 gene mutations in children with Myelodysplastic syndromes. in Archives of Biological Sciences. 2011;63(3):649-653.
doi:10.2298/ABS1103649J .
Jekić, Biljana, Bunjevački, Vera, Dobričić, Valerija, Novaković, Ivana, Milašin, Jelena, Popović, Branka, Damnjanović, Tatjana, Maksimović, Nela, Perović, V., Luković, Ljiljana, "NPM1 gene mutations in children with Myelodysplastic syndromes" in Archives of Biological Sciences, 63, no. 3 (2011):649-653,
https://doi.org/10.2298/ABS1103649J . .
