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Akademický článek

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Characterization and prevalence of two novel CHEK2 large deletions in Greek breast cancer patients

Autor: Apostolou, P. Fostira, F. Mollaki, V. Delimitsou, A. Vlassi, M. Pentheroudakis, G. Faliakou, E. Kollia, P. Fountzilas, G. Yannoukakos, D. Konstantopoulou, I.

Germline CHEK2 mutations confer increased cancer risk, for breast and other types, which is variable depending on the specific mutation. Of these, Large Genomic Rearrangements (LGRs) have been rarely reported; to date only eight LGRs have been publis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::2d4aa1c3c8e9aceb21b48a733ae2211f
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3086874

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Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece

Autor: Avgeris, S. Fostira, F. Vagena, A. Ninios, Y. Delimitsou, A. Vodicka, R. Vrtel, R. Youroukos, S. Stravopodis, D.J. Vlassi, M. Astrinidis, A. Yannoukakos, D. Voutsinas, G.E.

Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder causing benign tumors in the brain and other vital organs. The genes implicated in disease development are TSC1 and TSC2. Here, we have performed mutational analysis followed by a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::40e104139583202418d2bdc765b0b62e
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3056618

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The rs10830963 variant of melatonin receptor MTNR1B is associated with increased risk for gestational diabetes mellitus in a Greek population

Autor: Vlassi, M. Gazouli, M. Paltoglou, G. Christopoulos, P. Florentin, L. Kassi, G. Mastorakos, G.

OBJECTIVE: To investigate the association between Gestational Diabetes Mellitus (GDM) and the variants rs10830963 and rs1387153 in the MTNR1B locus in a sample of the Greek population. DESIGN: One hundred seventy-five unrelated pregnant Greek women (

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::a6b680de18f40095329fce13c66d13a4
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3129101

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Thermal unfolding of human BRCA1 BRCT-domain variants

Autor: Nikolopoulos, G. Pyrpassopoulos, S. Thanassoulas, A. Klimentzou, P. Zikos, C. Vlassi, M. Vorgias, C.E. Yannoukakos, D. Nounesis, G.

Missense mutations at the BRCT domain of human BRCA1 protein have been associated with an elevated risk for hereditary breast/ovarian cancer. They have been shown to affect the binding site and they have also been proposed to affect domain stability,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::7d643a445279175ad9544065bab49091
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3067712

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Solution structure of Ser14Gly-humanin, a potent rescue factor against neuronal cell death in Alzheimer's disease

Autor: Benaki, D. Zikos, C. Evangelou, A. Livaniou, E. Vlassi, M. Mikros, E. Pelecanou, M.

The NMR solution study of Ser14Gly-humanin (S14G-HN), a 1000-fold more potent derivative of humanin (HN), is reported. HN is 24-residue peptide that selectively suppresses neuronal cell death caused by Alzheimer's disease (AD)-specific insults and of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::b7c092ed613c300e4653db395f45abef
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3095223

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Equilibrium heat-induced denaturation of chitinase 40 from Streptomyces thermoviolaceus

Autor: Pyrpassopoulos, S. Vlassi, M. Tsortos, A. Papanikolau, Y. Petratos, K. Vorgias, C.E. Nounesis, G.

High-precision differential scanning calorimetry (DSC) and circular dichroism (CD) have been employed to study the thermal unfolding of chitinase 40 (Chi40) from Streptomyces thermoviolaceus. Chi40 belongs to family 18 of glycosyl hydrolase superfami

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::26af4b7711f2329dc727232ef6af9fb1
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3095648

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Thermal denaturation of the BRCT tandem repeat region of human tumour suppressor gene product BRCA1

Autor: Pyrpassopoulos, S. Ladopoulou, A. Vlassi, M. Papanikolau, Y. Vorgias, C.E. Yannoukakos, D. Nounesis, G.

Reduced stability of the tandem BRCT domains of human BReast CAncer 1 (BRCA1) due to missense mutations may be critical for loss of function in DNA repair and damage-induced checkpoint control. In the present thermal denaturation study of the BRCA1 B

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::821d05f62541acbcd58e175649ba7abd
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3067977

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