A5059387779- Hypothalamic control of reproductive hormones
- Regulation of Appetite and Obesity
- Ovarian function and disorders
- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- Metabolism and Genetic Disorders
- Wnt/β-catenin signaling in development and cancer
- Protein Tyrosine Phosphatases
- Metabolomics and Mass Spectrometry Studies
- Genetic Syndromes and Imprinting
- Medicine, History, and Philosophy
- RNA modifications and cancer
- Genomics and Rare Diseases
- Reproductive Biology and Fertility
- Biochemical Analysis and Sensing Techniques
- Adipose Tissue and Metabolism
- DNA Repair Mechanisms
- Endometriosis Research and Treatment
- Pancreatitis Pathology and Treatment
- Birth, Development, and Health
- Urticaria and Related Conditions
- Pancreatic and Hepatic Oncology Research
- Molecular Biology Techniques and Applications
- PARP inhibition in cancer therapy
- Diabetes and associated disorders
Shiraz University of Medical Sciences
2015-2023
Tehran University of Medical Sciences
2015-2020
Peter MacCallum Cancer Centre
2019
Stem Cell Technology Research Center
2015-2018
National Institute of Genetics
2016-2017
Genome-wide association studies (GWASs) have discovered numerous single nucleotide polymorphisms (SNPs) associated with human complex disorders. However, functional characterization of the disease-associated SNPs remains a formidable challenge. Here we explored regulatory mechanism SNP on chromosome 9p21 endometriosis by leveraging "allele-specific" genomic approaches. By re-sequencing 1.29 Mb region and scrutinizing DNase-seq data from ENCODE project, prioritized rs17761446 as candidate...
Abstract Background Loss-of-function variants in RAD51C are associated with familial ovarian cancer, but its role hereditary breast cancer remains unclear. The aim of this study was to couple tumor sequencing case-control data clarify the contribution cancer. Methods sequenced 3080 index cases that were negative BRCA1/2 clinical tests and 4840 population-matched cancer-free controls. Pedigree pathology analyzed. Nine cancers one from variant carriers identify biallelic inactivation RAD51C,...
An abnormality in pulse amplitude and frequency of gonadotropin releasing hormone (GnRH) secretion is the most characteristics polycystic ovarian syndrome (PCOS). On other hand, arginine-phenylalanine-amide (RFamide)-related peptide-3 (RFRP3) inhibits GnRH mammalian hypothalamus. The current study performed order to investigate expression RFRP3 mRNA dorsomedial hypothalamic nucleus (DMH) after induction PCOS a rat model constant light exposure, possible role parity on occurrence PCOS.In...
Methylmalonic acidura (MMA) is a rare autosomal recessive inborn error of metabolism. In this study we present novel nucleotide change in the mutase (MUT) gene two unrelated Iranian pedigrees and introduce methods used for its functional analysis.Two probands with definite diagnosis MMA common variant MUT were included descriptive study. Bioinformatic prediction splicing was done different servers. Reverse transcriptionpolymerase chain reaction (RT-PCR) analysis products analyzed by...
Hypothalamic Melanocortin-4Receptor (MC4R) and kiss1/kisspeptin systems play roles in reproductive processes. This study was conducted to evaluate changes MC4R kiss1 genes expression the arcuate nucleus (ARC) of hypothalamus its relationship with polycystic ovary syndrome (PCOS) rats.In current experimental study, 24 female rats were randomly equally allocated into nulliparous primiparous groups then divided two subgroups PCOS control. induced by exposure continuous light. Sex-related...
Background: Hypothalamic Melanocortin-4 Receptor (MC4R) and kiss1/kisspeptin systems play roles in reproductive processes. This study was conducted to evaluate changes MC4R kiss1 genes expression the arcuate nucleus (ARC) of hypothalamus its relationship with polycystic ovary syndrome (PCOS) rats.Materials Methods: In current experimental study, 24 female rats were randomly equally allocated into nulliparous primiparous groups then divided two subgroups PCOS control. induced by exposure...
The phenylalanine hydroxylase (PAH) locus has high linkage disequilibrium. Haplotypes related to this may thus be considered sufficiently informative for genetic diagnosis and carrier screening using multi-allelic markers. In study, we present an efficient method haplotype analysis of PAH multiplexing dyes. addition, explain how resolve the dye shift challenge in multiplex short tandem repeat (STR) genotyping.One hundred family trios were included descriptive study. forward primer a...
Background: Hypothalamic Melanocortin-4 Receptor (MC4R) and kiss1/kisspeptin systems play roles in reproductive processes. This study was conducted to evaluate changes MC4R kiss1 genes expression the arcuate nucleus (ARC) of hypothalamus its relationship with polycystic ovary syndrome (PCOS) rats. Materials Methods: In current experimental study, 24 female rats were randomly equally allocated into nulliparous primiparous groups then divided two subgroups PCOS control. induced by exposure...
Background Pemphigus vulgaris (PV) is an autoimmune bullous disease of the skin and mucous membranes caused by activation and proliferation T cells, production Th2 cytokine profile and pathogenic antibodies. Vitamin D a probable immunodeviator to Th2, which its actions are mediated through vitamin receptor (VDR). FokI only single nucleotide polymorphism (SNP) leading to VDR protein with different structure function. For first time, we focused on SNP evaluate its potential role in genetic...