NPM1 gene mutations in children with Myelodysplastic syndromes
2011
Autori
Jekić, BiljanaBunjevački, Vera
Dobričić, Valerija
Novaković, Ivana
Milašin, Jelena
Popović, Branka
Damnjanović, Tatjana
Maksimović, Nela
Perović, V.
Luković, Ljiljana
Članak u časopisu (Objavljena verzija)
Metapodaci
Prikaz svih podataka o dokumentuApstrakt
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.
Ključne reči:
Myelodysplastic syndromes / nucleophosmin / NPM1 mutation / childrenIzvor:
Archives of Biological Sciences, 2011, 63, 3, 649-653Izdavač:
- Srpsko biološko društvo, Beograd, i dr.
DOI: 10.2298/ABS1103649J
ISSN: 0354-4664
WoS: 000294400500017
Scopus: 2-s2.0-79961178698
Kolekcije
Institucija/grupa
Stomatološki fakultetTY - 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 . .