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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 …

Published: Sept. 3, 2024, midnight
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 …

Published: Aug. 29, 2024, midnight
Good laboratory practice for PGT-M: Turkish Society of Reproductive Medicine guidelines.

This guideline was prepared by the Turkish Society of Reproductive Medicine to define the conditions and requirements for an outsourced preimplantation genetic testing (PGT) programme in line with the experience …

Published: Aug. 3, 2024, midnight
The rs2046210 Polymorphism Is Associated with Endometriosis Risk and Elevated Estrogen Receptor 1 Expression in the Eutopic Endometrium of Women with the Disease.

In this focused genetic case-control study, we analyzed two functional single-nucleotide variants (SNVs) associated with breast cancer risk (rs2046210, rs9383590) and one risk SNV for an implantation defect and infertility …

Published: July 25, 2024, midnight
Genome-wide association reveals a locus in neuregulin 3 associated with gabapentin efficacy in women with chronic pelvic pain.

Chronic pelvic pain (CPP) in women with no obvious pelvic pathology has few evidence-based treatment options. Our recent multicenter randomized controlled trial (GaPP2) in women with CPP and no obvious …

Published: July 15, 2024, midnight
Ethnic-specific genetic susceptibility loci for endometriosis in Taiwanese-Han population: a genome-wide association study - Nature.com

Ethnic-specific genetic susceptibility loci for endometriosis in Taiwanese-Han population: a genome-wide association study Nature.com

Published: July 9, 2024, 7 a.m.
Genetic alteration of mRNA editing enzyme APOBEC3B in the pathogenesis of ovarian endometriosis.

What are the specific genetic alterations and associated network in endometriotic cells responsible for the disease pathogenesis?

Published: May 23, 2024, midnight
Yes, Endometriosis Is Genetic. Here’s Why It Matters - SheKnows

Yes, Endometriosis Is Genetic. Here’s Why It Matters SheKnows

Published: April 24, 2024, 7 a.m.
Genetically identification of endometriosis and cancers risk in women through a two-sample Mendelian randomization study | Scientific Reports - Nature.com

Genetically identification of endometriosis and cancers risk in women through a two-sample Mendelian randomization study | Scientific Reports Nature.com

Published: April 10, 2024, 7 a.m.
The causal effects of genetically predicted alcohol consumption on endometrial cancer risk from a Mendelian randomization study | Scientific Reports - Nature.com

The causal effects of genetically predicted alcohol consumption on endometrial cancer risk from a Mendelian randomization study | Scientific Reports Nature.com

Published: Feb. 12, 2024, 8 a.m.
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