Endometriosis Knowledgebase

Endometriosis Knowledgebase By Yu Yu

Several studies have pointed to possible genetic factors in endometriosis. Targeted gene-based and high-throughput methods such as Genome-Wide Association Studies (GWAS) have been previously employed to identify endometriosis-associated genes. However, the accuracy of these data are difficult to evaluate and…

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Normal endometrium and cancer-associated mutations

Normal endometrium and cancer-associated mutations By Yu Yu

Next-generation sequencing technology has enabled the detection of genetic mutation with high efficiency. It is believed that tumor progression is a result of accumulating mutations, so-called “driver mutations”, which confer growth advantages to the cell. Although such a process is…

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Endometriosis pathophysiology: research in genes updated

Endometriosis pathophysiology: research in genes updated By Engin Aydin

Endometriosis has a broad spectrum of environmental influences and genetic factors. I In this recently published review article in Experimental and Therapeutic Medicine, Vassilopoulou and associates present information about gene‑gene and gene‑environment interactions involved in endometriosis and discuss the effectiveness…

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The genetic predisposition to endometriosis

The genetic predisposition to endometriosis By Hale Goksever Celik

Endometriosis is an estrogen-dependent gynecological disease mostly encountered in reproductive-aged women. Although endometrium is a non-malignant disease, its symptoms can range from mild to severe due to the inflammation that ectopic endometrial tissue forms around itself. The exact etiopathogenetic mechanism…

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New Link Between Endometriosis and Genetics?

New Link Between Endometriosis and Genetics? By Özge Özkaya

Two new genes have been identified that may be associated with endometriosis. This finding increases our understanding of the biology of endometriosis and may take us one small step further towards the development of new ways of treating the condition. …

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A new theory in the pathogenesis of endometriosis

A new theory in the pathogenesis of endometriosis By Serdar Balci

Koninckx et. al., from various countries, have conducted this review, which will be published in Fertility and Sterility. Endometriosis is known for a century. The disease has a variable course in a patient, which may include pain, infections, and infertility.…

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Could Endometriosis-Related Infertility Be Genetic?

Could Endometriosis-Related Infertility Be Genetic? By Özge Özkaya

Researchers identified genetic polymorphisms or individual differences in two genes called AMA5 and KAZN among women with endometriosis who were infertile and control women who were fertile. The identification of these polymorphisms could help scientists better understand why some women…

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Polymorphism of IL12B May Help Solve Endometriosis

Polymorphism of IL12B May Help Solve Endometriosis By Kasthuri Nair

Zhao et al. recently published a paper titled “A functional promoter polymorphism in interleukin 12B gene is associated with an increased risk of ovarian endometriosis” in Gene. The research group from Hebei Medical University wanted to explore the potential roles…

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Epigenetic link between endometriosis and cancer

Epigenetic link between endometriosis and cancer By Engin Aydin

Although endometriosis is considered a benign condition the cellular, histologic, and molecular data strongly demonstrate that endometriosis has neoplastic characteristics. There is strong evidence that endometriosis shares striking features with malignancy like normal tissue dissemination, invasion, and organ damage, as well as new vessel formation (neoangiogenesis).  In…

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Expert discussion on mechanisms of endometriosis development and progression

Expert discussion on mechanisms of endometriosis development and progression By Yu Yu

Several mechanisms have been proposed to explain the occurrence and worsening of endometriosis. Classically, it is believed that retrograde menstruation causes endometriosis. However, the presence of endometriosis in newly menarcheal or pre-menarcheal girls cannot fully explain this early onset endometriosis.…

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The comparison of Chinese women in terms of risk factors, genetics and treatment of endometriosis

The comparison of Chinese women in terms of risk factors, genetics and treatment of endometriosis By Hale Goksever Celik

Endometriosis is characterized by endometrial implants outside of the uterine cavity. There is a wide spectrum of symptoms of this disease including dysmenorrhea, chronic pelvic pain, dyspareunia, extragenital symptoms. The pathogenesis of endometriosis appears to be multifactorial, including ectopic endometrial…

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Extending the Female Fertility Clock

Extending the Female Fertility Clock By Kasthuri Nair

Varela, Sanchez-de-Puerta, and Garcia-Velasco are a group of scientists from various institutions in Spain and they recently published a review article titled “Fertility, IVF and reproductive genetics” in Current Opinion in Obstetrics and Gynecology. In this publication, the authors discussed…

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Endometriosis From an Epigenetic Lens

Endometriosis From an Epigenetic Lens By Kasthuri Nair

Samadieh et al. from the Royan Institute for Reproductive Biomedicine, recently published an article in Reproductive Sciences titled “Epigenetic Dynamics of HOXA10 Gene in Infertile Women With Endometriosis.” In this paper, the researchers wanted to observe HOXA10 gene expression in…

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Independent development of endometrial epithelium and stroma within the same endometriosis

Independent development of endometrial epithelium and stroma within the same endometriosis By Murat Osman

Endometriosis is one of the leading causes of chronic pelvic pain in women during their childbearing years. A popular theory for the pathogenesis of endometriosis posits that circulating progenitor cells differentiate into the endometrial stroma and glandular tissue once they…

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The use of histone deacetylase inhibitors for the treatment of endometriosis

The use of histone deacetylase inhibitors for the treatment of endometriosis By Murat Osman

Histone deacetylase inhibitors prevent the deacetylation of specific gene sequences thereby allowing the increased transcription of certain genes. Trichostatin A, a histone deacetylase inhibitor, has been seen to induce the expression of a pro-apoptotic gene called nonsteroidal anti-inflammatory drug-activated gene…

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Inhibition of Histone methyltransferase for fighting endometriosis

Inhibition of Histone methyltransferase for fighting endometriosis By Dr. Youngran Park

Although the histone methyltransferase EZH2 and its product H3K27me3 are well studied in cancer, little is known about their role and potential as therapeutic targets in endometriosis. It has been previously reported that the endometriotic lesions are characterized by global…

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When Endometriosis Becomes Malignant

When Endometriosis Becomes Malignant By Kasthuri Nair

Anglesio and Yong recently wrote a review titled “Endometriosis-associated Ovarian Cancers” that was published in Clinical Obstetrics and Gynecology. This review explored the relationship between endometriosis and ovarian cancers. It is important to note that this review is a compilation of…

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Epigenetic regulation of the pathological process in endometriosis.

Epigenetic regulation of the pathological process in endometriosis. By Dr. Youngran Park

Epigenetic mechanisms have been recognized as important players in the development of a broad range of human diseases including endometriosis. A growing body of evidence shows that the remodeling of retrograde endometrial tissues to the ectopic endometriotic lesions involves multiple epigenetic…

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The Heritability of Endometriosis

The Heritability of Endometriosis By Kasthuri Nair

The mechanisms underlying endometriosis, genetic or otherwise, have yet to be understood. Thus, very little is known about how one can be afflicted with this disease. Isidor et al. recently published a paper titled “Familial deep endometriosis: A rare monogenic…

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Endometriosis-related Mitochondrial DNA Control Region Polymorphisms Found in Brazil

Endometriosis-related Mitochondrial DNA Control Region Polymorphisms Found in Brazil By Kasthuri Nair

The genetic basis for the formation of endometriosis is still at large. Andres et al. from the University of Sao Paulo, Brazil,  looked at various individuals, with and without endometriosis, to determine polymorphisms in the mitochondrial DNA (mtDNA) control region that…

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EFA.MC.2017.“The Abnormal Embryos That Aren’t”,“Tens of thousands of women thought they couldn't have babies: But what if they could.”Dr. Norbert Gleicher Dr. Monica Halem

EFA.MC.2017.“The Abnormal Embryos That Aren’t”,“Tens of thousands of women thought they couldn't have babies: But what if they could.”Dr. Norbert Gleicher Dr. Monica Halem By Özge Özkaya

The presentation started with the story of Monica Halem who had endometriosis and had been trying to conceive using in vitro fertilization VF), but was told that none of her fertilized embryos would be viable based on pre-implantation genetic screening…

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The role of gene polymorphisms in the pathogenesis of endometriosis

The role of gene polymorphisms in the pathogenesis of endometriosis By Murat Osman

Single nucleotide polymorphisms (SNPs) are the most common type of genetic variations that exist among individuals. These polymorphisms differ by a single nucleotide base pair and are scattered throughout the human genome. Scientists use SNPs as a biological marker to…

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Updates in the Field of Endometriosis: Epigenetics

Updates in the Field of Endometriosis: Epigenetics By Kasthuri Nair

In this chapter titled “A Review of the Epigenetic Contributions to Endometriosis,” Grimstad and Decherney examine various epigenetic influences that drive endometriosis disease progression. The epigenetic alterations they discuss include DNA methylation, histone modification, chromatin architecture changes, nuclear receptor modulation,…

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Updates in the Field of Endometriosis: Genetics

Updates in the Field of Endometriosis: Genetics By Kasthuri Nair

This chapter written by Krishnamoorthy and Decherney re-evaluate the literature concerning the genetics of endometriosis. The genetic mechanisms and signaling pathways that led to endometriosis are updated and the tools that help researchers find these abnormal genes and pathways are…

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Updates in the Field of Endometriosis

Updates in the Field of Endometriosis By Kasthuri Nair

A lot of progress has been made thus far in the field of endometriosis. Research has discovered various genetic and epigenetic components involved in endometriosis. There has also been a progression in the diagnosis and treatment of the disease since…

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DNA methylation changes in endometrium during the transition from pre-receptive to receptive phase

DNA methylation changes in endometrium during the transition from pre-receptive to receptive phase By Yu Yu

The endometrium is unique in that it undergoes remarkable changes during menstrual cycle under the control of hormones, estrogen, and progesterone. The function of the endometrium is crucial for embryo implantation, during which the endometrium is receptive around a week…

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New Genetic Variants Associated with Endometriosis May Offer New Opportunities

New Genetic Variants Associated with Endometriosis May Offer New Opportunities By Yu Yu

Endometriosis is a heritable gynecological condition. Its etiology and pathogenesis remain complex with multiple genetic and environmental risk factors. Previous studies based on female twins and common SNPs have suggested the heritability of endometriosis. In the May 2017 issue of…

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How ERα is regulated in endometriosis?

How ERα is regulated in endometriosis? By Yu Yu

Endometriosis pathogenesis is largely influenced by estrogen. Ectopic endometrium has altered expression of ERα compared to the eutopic endometrium. It is unclear what biological processes regulate such alteration. The article by Toderow et al. in Archives of Gynecology and Obstetrics…

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Mutations Associated with Cancer Were Identified in "Endometriosis without Cancer"

Mutations Associated with Cancer Were Identified in By Özge Özkaya

Lesions in deep infiltrating endometriosis harbor genetic mutations that are associated with cancer, found a study published in the New England Journal of Medicine.  The authors believe that this new discovery may help to distinguish between aggressive and non-aggressive forms of…

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Genetic Variations May Link Risk of Endometriosis and Ovarian Cancer

Genetic Variations May Link Risk of Endometriosis and Ovarian Cancer By Özge Özkaya

Variations in a gene called HNF1B could be linked to the risk of endometriosis, according to a study published in the medical journal Gynecologic Oncology. Previous studies had identified the same genetic variation as a risk factor for ovarian cancer.…

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