Latest Articles

Endometriosis and Sjögren's syndrome: Genetics insights on the observed bidirectional association of these diseases.

The role of RAD51 regulators and variants in primary ovarian insufficiency, endometriosis, and polycystic ovary syndrome.

The study of RAD51 regulators in female reproductive diseases has novel biomarker potential and implications for therapeutic advancement. Regulators of RAD51 play important roles in maintaining genome integrity and variations …

Causal Relationship Between Mood Swing and Gynecological Disorders: A Mendelian Randomization Study.

Gynecological disorders are a wide range of health problems affecting the female reproductive system, which poses substantial health challenges worldwide. Increasing number of observational studies have associated mood instability to …

Integrated bioinformatic analysis reveals the gene signatures, epigenetic roles, and regulatory networks in endometriosis.

Endometriosis is a common gynecological disease with a significant economic burden. Growing evidence has suggested the role of aberrant gene expression and epigenetic mechanisms in the pathogenesis of endometriosis. This …

Rethinking the pathogenesis of endometriosis: Complex interactions of genomic, epigenetic, and environmental factors.

Endometriosis is a complex, multifactorial disease. Recent advances in molecular biology underscore that somatic mutations within the epithelial component of the normal endometrium, alongside aberrant epigenetic alterations within endometrial stromal …

Exploring the causal associations between diet-derived circulating antioxidants and the risk of endometriosis: a Mendelian randomization study.

Numerous observational studies and randomized controlled trials have recently revealed the associations between circulating antioxidants and the risk of endometriosis, while the underlying causal relationship remains unclear. This study aimed …

Enhancing genetic association power in endometriosis through unsupervised clustering of clinical subtypes identified from electronic health records.

Endometriosis is a complex and heterogeneous condition affecting 10% of reproductive-age women, and yet, it often goes undiagnosed for several years. Limited observed heritability (7%) of large genetic association studies …

The vicious cycle of chronic endometriosis and depression-an immunological and physiological perspective.

Endometriosis is a chronic, estrogen-dependent, proinflammatory disease that can cause various dysfunctions. The main clinical manifestations of endometriosis include chronic pelvic pain and impaired fertility. The disease is characterized by …

Aberrant SWI/SNF Complex Members Are Predominant in Rare Ovarian Malignancies-Therapeutic Vulnerabilities in Treatment-Resistant Subtypes.

SWI/SNF (SWItch/Sucrose Non-Fermentable) is the most frequently mutated chromatin-remodelling complex in human malignancy, with over 20% of tumours having a mutation in a SWI/SNF complex member. Mutations in specific SWI/SNF …

Human papillomavirus disease in GATA2 deficiency: a genetic predisposition to HPV-associated female anogenital malignancy.

Patients with pathogenic variants in the GATA Binding Protein 2 (GATA2), a hematopoietic transcription factor, are at risk for human papillomavirus-related (HPV) anogenital cancer at younger than expected ages. A …