نتایج جستجو برای: med12 mutations
تعداد نتایج: 172942 فیلتر نتایج به سال:
background: mutations in β -globin gene may result in β-thalassemia major, which is one of the most common genetic disorders in iran and some other countries. knowing the beta-globin mutation spectrum improves the efficiency of prenatal diagnosis in the affected fetuses (major β-thalassemia) of heterozygote couples. methods: couples with high hemoglobin a 2 and low mean corpuscular volume we...
Although a remarkable rise in the depth of our understanding and management of breast cancer (BCa) in the last decade, this matter is still a major public health problem the entire world. But, researchers investigate about reason of BCa. Especially, they detected some important genes (BRCA1/2, PIK3CA, MED12, CDH1, TP53, PTEN or SALL4) for BCa diagnosis or treatment. For this reason we reviewed ...
Asymmetric cell division is a fundamental process that produces cellular diversity during development. In C. elegans, the Wnt signaling pathway regulates the asymmetric divisions of a number of cells including the T blast cell. We found that the let-19 and dpy-22 mutants have defects in their T-cell lineage, and lineage analyses showed that the defects were caused by disruption in the asymmetry...
Loss of imprinting (LOI) of insulin-like growth factor 2 (IGF2) is thought to be implicated in the pathogenesis of some tumors by upregulating IGF2 mRNA but its role in the pathogenesis of fibroadenomas (FAs) and phyllodes tumors (PTs) of the breast is yet to be studied. LOI of IGF2 was investigated in 25 FAs and 17 PTs which were heterozygous for Apa I polymorphism, and was found to be present...
Chronic lymphocytic leukemia (CLL) is extremely rare in Asian countries and there has been one report on genetic changes for 5 genes (TP53, SF3B1, NOTCH1, MYD88, and BIRC3) by Sanger sequencing in Chinese CLL. Yet studies of CLL in Asian countries using Next generation sequencing have not been reported. We aimed to characterize the genomic profiles of Korean CLL and to find out ethnic differenc...
beta-thalassemia, by its high frequency and heterogenecity, constitues a real problem of health in iran. aboute 13 beta globin mutations encompass 70-90% of mutations spectrum in iran, the rest are rare or unknown. in this study six mutations of the codon ivsi-130(g-c), fr16 (-c), codon35 (-c), fr23/24(-g), codon8 (+g) and codon 20 (gtg-gag) were recognized and added to spectrom of beta globin ...
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