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author:("asiri, M.")
2.  The role of exon 45 and 16 in the pathogenesis of Von Willebrand disease in Iranian Patients 
Background
Von Willebrand disease (VWD) is an autosomal recessive congenital bleeding disorder with deficiency or dysfunction of von Willebrand factor (VWF). The gene encoding for the VWF is located on chromosome 12, which is 178 Kb with 52 exons. Various mutations of this gene is responsible for the clinical features of VWD, but some single nucleotide polymorphisms make the molecular diagnosis of it very complicated.In this study genetic variations in two exons (45 & 16) of VWF gene in Iranian patients suffer from type 3 VWD from south west of Iran were evaluated.
Materials and Methods
Genetic variations in exon 45 and exon 16 of VWF gene were evaluated in 33 patients diagnosed with type 3 VWD from south west of Iran. Two exons with their flanking introns were amplified by PCR and amplicons were analyzed by sequencing for any molecular changes.
Results
No mutation was found in both selected regions. An A/C polymorphism in intron 44 was recognized in all patients in homozygous manner. This SNP reported for the first time from Iranian VWD patients.
Conclusion
Mutation of VWF gene is different in various ethnic groups, which finding of is important in the diagnosis of the VWD, especially for prenatal diagnosis.
A few mutations are reported for exon 45 and 16 of this gene in Iran and other countries. But, present study didn't find any mutation in these patients. Mutation in other exons or introns should be evaluated in affected individuals from south west of Iran.
PMCID: PMC3915433  PMID: 24575258
Von Willebrand disease; Von Willebrand Factor; Single Nucleotide Polymorphism (SNP); Mutation; PCR-Sequencing
3.  The Possible Impact of Obesity on Androgen, Progesterone and Estrogen Receptors (ERα and ERβ) Gene Expression in Breast Cancer Patients 
Background
Obesity has been associated with increased mortality from hormone dependant cancers such as breast cancer which is the most prevalent cancer in women. The link between obesity and breast cancer can be attributed to excess estrogen produced through aromatization in adipose tissue. The role of steroid hormone receptors in breast cancer development is well studied but how obesity can affect the expression pattern of steroid hormones in patients with different grades of breast cancer was the aim of this study.
Methods
In this case-control study, 70 women with breast cancer participated with different grades of obesity (36 none obese, BMI < 25 kg/m2 and 34 obese, BMI ≥ 25 kg/m2). The mean age of participants was 44.53 ± 1.79 yr (21–70 yr). The serum level of estrogen, progesterone and androgen determined by ELISA. Following quantitative expression of steroid hormone receptors mRNA in tumor tissues evaluated by Real-time PCR. Patients with previous history of radiotherapy or chemotherapy were excluded. SPSS 16 was used for data analysis and P < 0.05 considered statistically significant.
Results
The difference in ERα, ERβ and PR mRNA level between normal and obese patients was significant (P < 0.001). In addition, the expression of AR mRNA was found to be higher than other steroid receptors. There was no significant relation between ERβ gene expression in two groups (P = 0.68). We observed a significant relationship between ERα and AR mRNA with tumor stage and tumor grade, respectively (P = 0.023, P = 0.015).
Conclusion
According to the obtained results, it is speculated that obesity could paly a significant role in estrogen receptors gene expression and also could affect progression and proliferation of breast cancer cells.
doi:10.4137/BCBCR.S7707
PMCID: PMC3235995  PMID: 22174584
obesity; breast cancer; steroid receptors; steroid hormones

Results 1-3 (3)