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SzSA YearBook 2016/17

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SZENT-GYÖRGYI JUNIOR MENTORS<br />

NIKOLETTA NAGY<br />

Department of Medical Genetics,<br />

University of Szeged,<br />

Address: Somogyi u. 4., H-6720 Szeged, Hungary<br />

E: nagy.nikoletta@med.u-szeged.hu<br />

nikoletta.nagy@gmail.com<br />

T: +36 62/545-134<br />

RESEARCH AREA<br />

My main research interest is the identification of genetic<br />

susceptibility factors predisposing to the development of<br />

rare (monogenic) and common (multifactorial) skin diseases.<br />

Currently I am working on a rare skin disease, Brooke-Spiegler<br />

syndrome, characterized by the development<br />

of significantly stigmatizing tumors of the skin appendages.<br />

These studies would give the basis of the development<br />

of future genetic and pharmacogenomics screening tests<br />

with diagnostic or therapeutic purposes. Another field of<br />

interest is the development and Research area of causative<br />

treatment strategies such as cell-, gene-therapy methods.<br />

TECHNIQUES AVAILABLE IN THE LAB<br />

Basic DNA techniques (genomic and cell free DNA isolation,<br />

PCR preparation, gel electrophoresis, sequencing, digital<br />

PCR measurements), polymorphism studies in multifactorial<br />

diseases, mutation screening in rare diseases, gene and<br />

protein expression analysis (Q-RT-PCR, Western blot), isolation<br />

and culturing of human cells, using skin organotypic<br />

model, transfection into human cell lines, RNA silencing,<br />

basic cell biology studies (migration, proliferation assays).<br />

SELECTED PUBLICATIONS<br />

Koumbaris, G., Kypri, E., Tsangaras, K., Achilleos, A., Mina,<br />

P., Neofytou, M., Velissariou, V., Christopoulou, G., Kallikas,<br />

I., González-Liñán, A., Benusiene, E., Latos-Bielenska, A.,<br />

Marek, P., Santana, A., Nagy, N., Széll, M., Laudanski, P.,<br />

Papageorgiou, E.A., Ioannides, M., Patsalis, P.C. (<strong>2016</strong>) Cell-<br />

Free DNA Analysis of Targeted Genomic Regions in Maternal<br />

Plasma for Non-Invasive Prenatal Testing of Trisomy 21,<br />

Trisomy 18, Trisomy 13, and Fetal Sex. Clin Chem 62: 848-55.<br />

Rebane, A., Runnel, T., Aab, A., Maslovskaja, J., Ruckert,<br />

B., Zimmermann, M., Plaas, M., Kaner, J., Treis, A., Pihlap,<br />

M., Haljasorg, U., Hermann, H., Nagy, N., Kemeny, L.,<br />

Erm, T., Kingo, K., Li, M., Boldin, M.P., Akdis, C.A. (2014)<br />

MicroRNA-146a alleviates chronic skin inflammation in<br />

atopic dermatitis through suppression of innate immune<br />

responses in keratinocytes. J Allergy Clin Immun 134: 836-<br />

847.<br />

Rebane, A., Zimmermann, M., Aab, A., Baurecht, H., Koreck,<br />

A., Karelson, M., Abram, K., Metsalu, T., Pihlap, M., Meyer, N.,<br />

Folster-Holst, R., Nagy, N., Kemeny, L,, Kingo, K., Vilo, J., Illig,<br />

T., Akdis, M., Franke, A., Novak, N., Weidinger, S., Akdis, C.A,<br />

(2012) Mechanisms of IFN-gamma-induced apoptosis of<br />

human skin keratinocytes in patients with atopic dermatitis,<br />

J Allergy Clin Immun 129: 1297-1306.<br />

Tanaka, A. Weinel, S., Nagy, N., O’Driscoll, M., Lai-Cheong,<br />

J.E., Kulp-Shorten, C.L., Knable, A., Carpenter, G., Fisher, S.A.,<br />

Hiragun, M., Yanase, Y., Hide, M., Callen, J., McGrath, J.A.<br />

(2012) Germline mutation in ATR in autosomal- dominant<br />

oropharyngeal cancer syndrome. Am J Hum Genet 90: 511-<br />

5<strong>17</strong>.<br />

Nagy, N., Almaani, N., Tanaka, A., Lai-Cheong, J.E.,<br />

Techanukul, T., Mellerio, J.E., McGrath, J.A. (2011) HB-EGF<br />

induces COL7A1 expression in keratinocytes and fibroblasts:<br />

possible mechanism underlying allogeneic fibroblast<br />

therapy in recessive dystrophic epidermolysis bullosa. J<br />

Invest Dermatol 131: <strong>17</strong>71-74.<br />

87

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