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CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes.
The mutation spectrum of CYP1B1 among 104 primary congenital glaucoma patients of the genetically heterogeneous Iranian population was investigated by sequencing. We also determined intragenic singleExpand
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Contributions of MYOC and CYP1B1 mutations to JOAG
Purpose To investigate the role of MYOC and CYP1B1 in Iranian juvenile open angle glaucoma (JOAG) patients. Methods Twenty-three JOAG probands, their available affected and unaffected family members,Expand
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The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine
SUCLA2 is one of several nuclear-encoded genes that can cause encephalomyopathy accompanied by mitochondrial DNA depletion. The disorder usually manifests in early childhood and leads to early death.Expand
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Sex Bias in Primary Congenital Glaucoma Patients with and without CYP1B1 Mutations
Purpose To investigate variations in sex ratio among Iranian primary congenital glaucoma (PCG) patients with and without mutations in the CYP1B1 gene and to evaluate possible clinical variationsExpand
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Genotyping results of Iranian PCG families suggests one or more PCG locus other than GCL3A, GCL3B, and GCL3C exist
Purpose To assess whether loci other than GLC3A, GLC3B, and GLC3C are linked to primary congenital glaucoma (PCG). Methods The gene CYP1B1 at GLC3A was screened in 19 Iranian PCG probands who hadExpand
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Confident gene activity prediction based on single histone modification H2BK5ac in human cell lines
We showed that analysis of the single histone modification H2BK5ac at only four gene regions correctly predicted transcription activity status of over 75% of genes in CD4+ T-cells. Expand
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Biotransformation of methyl tert-butyl ether by human cytochrome P450 2A6
Methyl tert-butyl ether (MTBE) is widely used as gasoline oxygenate and octane number enhancer for more complete combustion in order to reduce the air pollution caused by motor vehicle exhaust. TheExpand
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Network Analysis of HOX genes in Endometriosis
The study identified causative genes of the HOX family in endometriosis. Co-expression networks were constructed by PCR-array data. The most DEGs are effective genes in development, metabolic andExpand
Insight into epigenetics of human endometriosis organoids: DNA methylation analysis of HOX genes and their cofactors.
OBJECTIVE To evaluate and compare the methylation pattern of Human Homeobox (HOX) clusters (A-D) and HOX cofactors in normal, eutopic, and ectopic endometrial tissues with ectopic and eutopicExpand