A5020326543- Chronic Myeloid Leukemia Treatments
- Chronic Lymphocytic Leukemia Research
- Eosinophilic Disorders and Syndromes
- Mitochondrial Function and Pathology
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Metabolism and Genetic Disorders
- Diabetes and associated disorders
- Hemoglobinopathies and Related Disorders
- Neonatal Health and Biochemistry
- Liver Disease Diagnosis and Treatment
- Acute Lymphoblastic Leukemia research
- Genetics and Neurodevelopmental Disorders
- Drug Transport and Resistance Mechanisms
- Liver Disease and Transplantation
- Liver Diseases and Immunity
- Genomics and Rare Diseases
Biotechnology Research Center
2017-2023
Pasteur Institute of Iran
2015-2023
Abstract Background Glutathione S‐transferases (GSTs) polymorphisms may impact on chronic myeloid leukemia (CML) risk or heterogeneous responses to Imatinib mesylate (IM). The aim of this study was evaluate the correlation between GSTs and CML risk, treatment response. Methods We genotyped GSTM1, GSTT1 null deletion polymorphisms, GSTP1 Ile105Val polymorphism by PCR methods BCR‐ABL transcripts were analyzed qRT‐PCR in 104 patients sex‐ age‐matched healthy individuals. Results Individual...
To determine whether polymorphisms of SLC22A1 and SLCO1B3 genes could predict imatinib (IM) response chronic myeloid leukemia (CML) risk.We genotyped (c.480G > C, c.1222A G) (c.334T G, c.699G A) in 132 patients with CML 109 sex- age-matched healthy subjects. The were evaluated for cytogenetic by standard chromosome banding analysis (CBA).Polymorphism showed significant increased risk IM resistance SLC22A1c.1222AG (P = .03; OR 2.2), SLCO1B3c.334TT/TG genotypes .007; 4.37) 334T allele 2.86)....
Abstract Background Hyperphenylalaninemia (HPA) is a metabolic disorder classified into phenylalanine‐4‐hydroxylase ( PAH ) and non‐ deficiency. The latter produced by mutations in genes involved the tetrahydrobiopterin (BH4) biosynthesis pathway DNAJC12 pathogenetic variants. BH4 metabolism, including de novo (i.e., guanosine 5′‐triphosphate cyclohydrolase I (GTPCH/ GCH1 ), sepiapterin reductase (SR/ SPR 6‐pyruvoyl‐tetrahydropterin synthase (PTPS/ PTS )), two that play roles cofactor...
Multiplex Snapshot Minisequencing for the Detection of Common PAH Gene Mutations in Iranian Patients with Phenylketonuria
Imatinib mesylate (IM), a strong and selective tyrosine kinase inhibitor, has been approved as the front line of treatment in chronic myeloid leukemia (CML) patients. In spite satisfactory results imatinib patients with CML, failure or suboptimal response developed resistance that might be because pharmacogenetic variants. This study attempted to evaluate influence ABCB1 gene polymorphisms smoking on CML risk imatinib.ABCB1 (c.1236C>T, c.3435C>T) were genotyped 98 100 sex- age-matched...
Abstract Background ATRX gene encodes a member of the SWI2/SNF2 family proteins that may act as transcriptional factor and plays significant role in epigenetic regulation expression. The mutations have been shown to cause two types disorders: inherited lead alpha thalassemia X-linked mental retardation (ATR-X) syndrome acquired somatic myelodysplastic (ATMDS). Here we report case mutation without completely features ATR-X or ATMDS syndromes. Moreover review previous reports both ATMDS....