Výsledky vyhledávání - "Maryam Neishabury"

Genetic Diagnosis of Pyruvate Kinase Deficiency in Undiagnosed Iranian Patients with Severe Hemolytic Anemia, using Whole Exome Sequencing

Autor: Jafar Mehrabi Sisakht, Maghsood Mehri, Hossein Najmabadi, Azita Azarkeivan, Maryam Neishabury

Publikováno v: Archives of Iranian Medicine. 25:691-697

Background: After ruling out the most common causes of severe hemolytic anemia by routine diagnostic tests, certain patients remain without a diagnosis. The aim of this study was to elucidate the genetic cause of the disease in these patients using n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c1025da41147fd17cbf94e01740c8ea9
https://doi.org/10.34172/aim.2022.108

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Electromobility Shift Assay Reveals Evidence in Favor of Allele-Specific Binding of RUNX1 to the 5′ Hypersensitive Site 4-Locus Control Region

Autor: Maryam Neishabury, Hossein Dehghani, Sepideh Ghobakhloo

Publikováno v: Hemoglobin. 40:236-239

In our previous studies on the Iranian β-thalassemia (β-thal) patients, we identified an association between the severity of the β-thal phenotype and the polymorphic palindromic site at the 5' hypersensitive site 4-locus control region (5'HS4-LCR)

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https://doi.org/10.1080/03630269.2016.1189931

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The Impact ofXmnI-HBG2, BCL11Aand HBS1L-MYB Single Nucleotide Polymorphisms on Hb F Variation of Hematologically Normal Iranian Individuals

Autor: Masoud Karimlou, Koorosh Kamali, Elham Darabi, Maryam Neishabury, Mahjoobeh Jafari Vesiehsari, Fahimeh Zamani, Elaheh Keyhani, Setareh Talebi Kakroodi

Publikováno v: Hemoglobin. 40:198-201

The impact of Hb F on severity of sickle cell disease and β-thalassemia (β-thal) is well documented. The XmnI-HBG2, BCL11A and HBS1L-MYB single nucleotide polymorphisms (SNPs) have been introduced as the most important factors causing variation in

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https://doi.org/10.3109/03630269.2016.1160920

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Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing

Autor: Maryam Zarin, Hossein Najmabadi, Azita Azarkeivan, Maghsood Mehri, Fariba Ardalani, Maryam Neishabury

Publikováno v: Blood cells, moleculesdiseases. 71

Sideroblastic anemias are heterogeneous rare hematological disorders, representing diverse phenotypes. In this study, the genetic cause of congenital, transfusion dependent anemia in four unrelated families consisting of eighteen individuals, with on

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https://pubmed.ncbi.nlm.nih.gov/29499877

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Spontaneous mutation, oxidative DNA damage, and the roles of base and nucleotide excision repair in the yeastSaccharomyces cerevisiae

Autor: Andrew D. Scott, Simon H. Reed, Serge Boiteux, Raymond Waters, D. Hugh Jones, Maryam Neishabury

Publikováno v: Yeast. 15:205-218

The OGG1 gene of Saccharomyces cerevisiae encodes a DNA glycosylase that excises 7,8-dihydro-8-oxoguanine (8-OxoG). When compared to wild-type, ogg1 mutants show an increase in the frequency of GC to TA transversions, indicating a role for Ogg1 in th

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https://doi.org/10.1002/(sici)1097-0061(199902)15:3<205::aid-yea361>3.0.co

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The influence of the BCL11A polymorphism on the phenotype of patients with beta thalassemia could be affected by the beta globin locus control region and/or the Xmn1-HBG2 genotypic background

Autor: Mahjoobeh Jafari Vesiehsari, Maryam Neishabury, Azita Azarkeivan, Hossein Najmabadi, Elahe Keyhani, Fahimeh Zamani, Seyedeh Sedigheh Abedini, Setareh Talebi Kakroodi, Masumeh Sadat Eslami

Publikováno v: Blood cells, moleculesdiseases. 51(2)

article i nfo To study the influence of the β globin locus control region (LCR) genotypic background on the phenotype modifying role of BCL11A polymorphisms, 100 cases of thalassemia, 48 homozygous for the A allele and 52 homozygous for the G allele

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https://pubmed.ncbi.nlm.nih.gov/23541515

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The XmnI and BCL11A single nucleotide polymorphisms may help predict hydroxyurea response in Iranian β-thalassemia patients

Autor: Hadi Bayat, Koorosh Kamali, Azita Azarkeivan, Saeid Mohammadparast, Samaneh Farashi, Hossein Najmabadi, Mehdi Banan, Masumeh Hadavand Khani, Nooshin Bayat, Maryam Neishabury

Publikováno v: Hemoglobin. 36(4)

Hydroxyurea (HU), a drug which can reactivate fetal hemoglobin (Hb F) production, is frequently prescribed to β-thalassemia (β-thal) patients. However, transfusion requirements of only a subset of patients are reduced upon HU treatment. Because of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a0874eba90d0018dd6448a65c4e05d3
https://pubmed.ncbi.nlm.nih.gov/22686296

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