TY  - JOUR
AU  - Pagano, Giovanni
AU  - Aiello Talamanca, Annarita
AU  - Castello, Giuseppe
AU  - d'Ischia, Marco
AU  - Pallardo, Federico V.
AU  - Petrović, Sandra
AU  - Porto, Beatriz
AU  - Tiano, Luca
AU  - Zatterale, Adriana
PY  - 2013
UR  - https://vinar.vin.bg.ac.rs/handle/123456789/5582
AB  - Fanconi anaemia (FA) is a genetic cancer predisposition disorder associated with cytogenetic instability, bone marrow failure and a pleiotropic cellular phenotype, including low thresholds of responses to oxidative stress, cross-linking agents and selected cytokines. This study was aimed at defining the scope of abnormalities in gene expression using the publicly available FA Transcriptome Consortium (FTC) database (Gene Expression Omnibus, 2009 and publicly available as GSE16334). We evaluated the data set that included transcriptomal analyses on RNA obtained from low-density bone marrow cells (BMC) from 20 patients with FA and 11 healthy volunteers, by seeking to identify changes in expression of over 22000 genes, including a set of genes involved in: (i) bioenergetic pathways; (ii) antioxidant activities; (iii) response to stress and metal-chelating proteins; (iv) inflammation-related cytokines and (v) DNA repair. Ontological analysis of genes expressed at magnitudes of 1.5-fold or greater demonstrated significant suppression of genes in the categories of (i) energy metabolism; (ii) antioxidant activities; and (iii) stress and chelating proteins. Enhanced expression was found for 16 of 26 genes encoding inflammatory cytokines. A set of 20 of 21 transcripts for DNA repair activities were down-regulated; four of these transcripts related to type II topoisomerase. The data provide evidence for alterations in gene regulation of bioenergetic activities, redox-related activities, stress and metal-chelating proteins, and of some selected DNA repair activities in patients with FA.
T2  - European Journal of Haematology
T1  - Bone marrow cell transcripts from Fanconi anaemia patients reveal in vivo alterations in mitochondrial, redox and DNA repair pathways
VL  - 91
IS  - 2
SP  - 141
EP  - 151
DO  - 10.1111/ejh.12131
ER  - 

@article{
author = "Pagano, Giovanni and Aiello Talamanca, Annarita and Castello, Giuseppe and d'Ischia, Marco and Pallardo, Federico V. and Petrović, Sandra and Porto, Beatriz and Tiano, Luca and Zatterale, Adriana",
year = "2013",
abstract = "Fanconi anaemia (FA) is a genetic cancer predisposition disorder associated with cytogenetic instability, bone marrow failure and a pleiotropic cellular phenotype, including low thresholds of responses to oxidative stress, cross-linking agents and selected cytokines. This study was aimed at defining the scope of abnormalities in gene expression using the publicly available FA Transcriptome Consortium (FTC) database (Gene Expression Omnibus, 2009 and publicly available as GSE16334). We evaluated the data set that included transcriptomal analyses on RNA obtained from low-density bone marrow cells (BMC) from 20 patients with FA and 11 healthy volunteers, by seeking to identify changes in expression of over 22000 genes, including a set of genes involved in: (i) bioenergetic pathways; (ii) antioxidant activities; (iii) response to stress and metal-chelating proteins; (iv) inflammation-related cytokines and (v) DNA repair. Ontological analysis of genes expressed at magnitudes of 1.5-fold or greater demonstrated significant suppression of genes in the categories of (i) energy metabolism; (ii) antioxidant activities; and (iii) stress and chelating proteins. Enhanced expression was found for 16 of 26 genes encoding inflammatory cytokines. A set of 20 of 21 transcripts for DNA repair activities were down-regulated; four of these transcripts related to type II topoisomerase. The data provide evidence for alterations in gene regulation of bioenergetic activities, redox-related activities, stress and metal-chelating proteins, and of some selected DNA repair activities in patients with FA.",
journal = "European Journal of Haematology",
title = "Bone marrow cell transcripts from Fanconi anaemia patients reveal in vivo alterations in mitochondrial, redox and DNA repair pathways",
volume = "91",
number = "2",
pages = "141-151",
doi = "10.1111/ejh.12131"
}

Pagano, G., Aiello Talamanca, A., Castello, G., d'Ischia, M., Pallardo, F. V., Petrović, S., Porto, B., Tiano, L.,& Zatterale, A.. (2013). Bone marrow cell transcripts from Fanconi anaemia patients reveal in vivo alterations in mitochondrial, redox and DNA repair pathways. in European Journal of Haematology, 91(2), 141-151.
https://doi.org/10.1111/ejh.12131

Pagano G, Aiello Talamanca A, Castello G, d'Ischia M, Pallardo FV, Petrović S, Porto B, Tiano L, Zatterale A. Bone marrow cell transcripts from Fanconi anaemia patients reveal in vivo alterations in mitochondrial, redox and DNA repair pathways. in European Journal of Haematology. 2013;91(2):141-151.
doi:10.1111/ejh.12131 .

Pagano, Giovanni, Aiello Talamanca, Annarita, Castello, Giuseppe, d'Ischia, Marco, Pallardo, Federico V., Petrović, Sandra, Porto, Beatriz, Tiano, Luca, Zatterale, Adriana, "Bone marrow cell transcripts from Fanconi anaemia patients reveal in vivo alterations in mitochondrial, redox and DNA repair pathways" in European Journal of Haematology, 91, no. 2 (2013):141-151,
https://doi.org/10.1111/ejh.12131 . .