Výsledky vyhledávání - "Christina Tafrali"

A SINGLE NUCLEOTIDE POLYMORPHISM IN THE HBBP1 GENE IN THE HUMAN beta-GLOBIN LOCUS IS ASSOCIATED WITH A MILD beta-THALASSEMIA DISEASE PHENOTYPE

Autor: Alexandra Kourakli, Marianthi Georgitsi, Emily Giannopoulou, George P. Patrinos, Konstantinos Poulas, Adamantia Papachatzopoulou, Christina Tafrali, Marina Bartsakoulia, Eleana F. Stavrou

Publikováno v: Hemoglobin; Vol 36

The rs2071348 (g.5264146A>C) polymorphism on the HBB pseudogene, namely HBBP1, previously emerged as a variant significantly associated with a milder disease phenotype in Asian β(0)-thalassemia/hemoglobin (Hb) E (β(0)-thal/Hb E [β26(B8)Glu→Lys,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20771a54761c12fdf036172e06e036ad

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Population-specific documentation of pharmacogenomic markers and their allelic frequencies in FINDbase

Autor: Konstantinos Poulas, Panagiota Vlahopoulou, Olga Giannakopoulou, Giannis Tzimas, Fotios Ntellos, Eva Kyriacou, A. Tsakalidis, Emmanouil Viennas, Athanassia Boulakou, Marianthi Georgitsi, Vassiliki Gkantouna, Elena Christodoulopoulou, Zoi Zagoriti, George P. Patrinos, Christina Tafrali, John Tsaknakis

Publikováno v: Pharmacogenomics; Vol 12

Aims: Population and ethnic group-specific allele frequencies of pharmacogenomic markers are poorly documented and not systematically collected in structured data repositories. We developed the Frequency of Inherited Disorders Pharmacogenomics databa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc8517d8e821355a13b293a15a71ee8a

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Genomic variation in the MAP3K5 gene is associated with β-thalassemia disease severity and hydroxyurea treatment efficacy

Autor: Eleana F. Stavrou, Arsinoi Paizi, Sjaak Philipsen, Sonja Pavlovic, Branka Zukic, Alexandra Kourakli, Marianthi Georgitsi, Marina Bartsakoulia, Olga Giannakopoulou, Emily Giannopoulou, Maja Stojiljkovic-Petrovic, Christina Tafrali, Alexander E. Felice, Joseph Borg, George P. Patrinos, Milena Radmilovic, Adamantia Papachatzopoulou, Polyxeni Lambropoulou, Konstantinos Poulas

Publikováno v: Pharmacogenomics, 14(5), 469-483. Future Medicine Ltd.
Pharmacogenomics
Pharmacogenomics; Vol 14

Aim: In this study we explored the association between genetic variations in MAP3K5 and PDE7B genes, residing on chromosome 6q23, and disease severity in β-hemoglobinopathy patients, as well as the association between these variants with response to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5b16a9d90fb82a1b84b4b20d1043eb1
https://pubmed.ncbi.nlm.nih.gov/23556445

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KLF10 gene expression is associated with high fetal hemoglobin levels and with response to hydroxyurea treatment in β-hemoglobinopathy patients

Publikováno v: Pharmacogenomics
Pharmacogenomics, 13(13), 1487-1500. Future Medicine Ltd.

Aim: In humans, fetal hemoglobin (HbF) production is controlled by many intricate mechanisms that, to date, remain only partly understood. Patients & methods: Pharmacogenomic analysis of the effects of hydroxyurea (HU) on HbF production was undertake

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d734a1b414380cb3161dcab3a3c83adc

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