Mamata Deenadayal

The objective of the study was to investigate whether the TYK2 gene influences the risk of developing endometriosis in South Indian women. The non-synonymous SNP, rs2304256, in exon8 of the TYK2 gene was tested for association in a case–con…

An aberrant immunologic mechanism and mitochondrial biogenesis have been suggested to be involved in the pathogenesis of endometriosis. Genetic alterations in the vitamin D receptor (VDR) gene and peroxisome proliferator-activated receptor-…

The aim of the study was to investigate the association between Histone deacetylase 1 (HDAC1), Sirtuin1 (SIRT1), and Sirtuin3 (SIRT3) single-nucleotide polymorphisms (SNPs) and risk of endometriosis in South Indian women. A total of 300 sub…

The aim of the study was to investigate the association between Histone deacetylase 1 (HDAC1), Sirtuin1 (SIRT1), and Sirtuin3 (SIRT3) single-nucleotide polymorphisms (SNPs) and risk of endometriosis in South Indian women. A total of 300 sub…

Aim: The Mitochondrial transcription factor A (TFAM) and mitochondrial (mt) DNA copy number variations are known to contribute in disease development. Genetic factors play an important role in the development of endometriosis. Therefore, th…

BackgroundEndometriosis is a multifactorial estrogen dependent gynecological disease characterized by implantation of functional endometrial tissue at ectopic positions. Though this disease is benign, it is associated with an increased risk…

study question: Are mutations in the phosphatase and tensin homolog deleted on chromosome 10 (PTEN) gene associated with endometriosis? summaryanswer: Loss of heterozygosity (LOH) at the10q23.3 locus, PTEN somaticmutations and changes in th…

PurposeTo investigate the role of genetic variations and expression alterations of BRCA1 and BRCA2 genes in the pathophysiology of endometriosis.MethodsA genetic association study was conducted in 573 endometriosis cases and 490 controls of…

STUDY QUESTION: Are mutations in the phosphatase and tensin homolog deleted on chromosome 10 (PTEN) gene associated with endometriosis? SUMMARY ANSWER: Loss of heterozygosity (LOH) at the 10q23.3 locus, PTEN somatic mutations and changes i…

ObjectiveTo evaluate the association of mitochondrial displacement (D-) loop alterations with endometriosis in south Indian women.DesignCase-control study.SettingBiochemistry and molecular biology laboratories.Patient(s)Women with (n = 152)…

Genetic alterations and aberrant expression of 'mitochondrial membrane complex I' (MMC-I) underlie several complex human disorders, but no reports are documented to date in endometriosis. Sequencing of mitochondrially encoded MMC-I subunits…

BACKGROUND: Endometriosis is a chronic gynecological benign disease that shares several features similar to malignancy. Mitochondrial DNA (mtDNA) mutations have been reported in all most all types of tumors. However, it is not known as to w…

Background Endometriosis is a chronic gynecological benign disease that shares several features similar to malignancy. Mitochondrial DNA (mtDNA) mutations have been reported in all most all types of tumors. However, it is not known as to wh…

Background Endometriosis is a chronic gynecological benign disease that shares several features similar to malignancy. Mitochondrial DNA (mtDNA) mutations have been reported in all most all types of tumors. However, it is not known as to wh…

AIM: To investigate the role of loss of heterozygosity (LOH), single nucleotide polymorphisms (SNPs), and the expression of gene p53 in the pathogenesis of endometriosis. METHODS: LOH at the p53 gene locus (17p13.1) was examined in matched…

The objective of the present study was to investigate the association between gene E-cadherin single nucleotide polymorphisms (SNPs) and risk of developing endometriosis in Indian women and to evaluate the role of E-cadherin expression in t…

ObjectiveTo investigate whether the PI3KCA and AKT1 gene influences the risk of developing endometriosis in South Indian women.Study designMutations in exon 9 and 20 of PI3KCA gene and E17K mutation in exon 4 of AKT1 gene were tested for as…

ObjectiveTo investigate whether the eNOS gene influences the risk of developing endometriosis in south Indian women.Study designThe single nucleotide polymorphism, Glu298Asp, in exon7 of the eNOS gene was tested for association in a case-co…

BACKGROUND: The aim of the study was to test whether the signal transducer and activator of transcription 6 (STAT6) gene influences the risk of developing endometriosis. METHODS: The single-nucleotide polymorphism, G2964A, in the 3'-untran…

ObjectiveTo investigate the association of the -174 G/C promoter polymorphism of the interleukin-6 (IL-6) gene with endometriosis in South Indian women.MethodsThe genotype frequencies of the common IL-6 -174 G/C polymorphism were compared i…

BACKGROUND: Vascular endothelial growth factor (VEGF), a major mediator of angiogenesis and vascular permeability, is known to play a key role in the pathophysiology of endometriosis. METHODS AND RESULTS: The single nucleotide polymorphisms…

Aylamine-N-acetyl transferase is a phase II detoxification enzyme encoded by the gene NAT2. Single nucleotide polymorphism (SNP) changes from the wild type NAT2 *4 allele result in allelic variants *5, *6 and *7. Homozygotes for the NAT2 *4…