The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions

N Rahmioglu, S Mortlock, M Ghiasi, PL Møller… - Nature …, 2023 - nature.com
Endometriosis is a common condition associated with debilitating pelvic pain and infertility.
A genome-wide association study meta-analysis, including 60,674 cases and 701,926 …

The role of epigenetic mechanisms in the regulation of gene expression in the cyclical endometrium

AM Retis-Resendiz, IN González-García… - Clinical …, 2021 - Springer
Background The human endometrium is a highly dynamic tissue whose function is mainly
regulated by the ovarian steroid hormones estradiol and progesterone. The serum levels of …

Genetic, epigenetic, and steroidogenic modulation mechanisms in endometriosis

A Zubrzycka, M Zubrzycki, E Perdas… - Journal of clinical …, 2020 - mdpi.com
Endometriosis is a chronic gynecological disease, affecting up to 10% of reproductive-age
women. The exact cause of the disease is unknown; however, it is a heritable condition …

[HTML][HTML] A multi-level investigation of the genetic relationship between endometriosis and ovarian cancer histotypes

S Mortlock, RI Corona, PF Kho, P Pharoah, JH Seo… - Cell Reports …, 2022 - cell.com
Endometriosis is associated with increased risk of epithelial ovarian cancers (EOCs). Using
data from large endometriosis and EOC genome-wide association meta-analyses, we …

New concepts on the etiology of endometriosis

FL Cousins, BD McKinnon, S Mortlock… - Journal of Obstetrics …, 2023 - Wiley Online Library
Endometriosis is a serious, chronic disorder where endometrial tissue grows outside the
uterus, causing severe pelvic pain and infertility. It affects 11% of women. Endometriosis is a …

Gene expression profiles separate endometriosis lesion subtypes and indicate a sensitivity of endometrioma to estrogen suppressive treatments through elevated …

S Marla, S Mortlock, T Heinosalo, M Poutanen… - BMC medicine, 2023 - Springer
Background Endometriosis is a common, gynaecological disease characterised by the
presence of endometrial-like cells growing outside the uterus. Lesions appear at multiple …

Long noncoding RNA LINC00339 promotes renal tubular epithelial pyroptosis by regulating the miR‐22‐3p/NLRP3 axis in calcium oxalate–induced kidney stone

Z Song, Y Zhang, B Gong, H Xu, Z Hao… - Journal of Cellular …, 2019 - Wiley Online Library
This study aims to investigate the role of long noncoding RNA (lncRNA) long intergenic
nonprotein coding RNA 339 (LINC00339) in regulating renal tubular epithelial pyroptosis in …

Whole-tissue deconvolution and scRNAseq analysis identify altered endometrial cellular compositions and functionality associated with endometriosis

DG Bunis, W Wang, J Vallvé-Juanico… - Frontiers in …, 2022 - frontiersin.org
The uterine lining (endometrium) exhibits a pro-inflammatory phenotype in women with
endometriosis, resulting in pain, infertility, and poor pregnancy outcomes. The full …

A molecular staging model for accurately dating the endometrial biopsy

WT Teh, J Chung, SJ Holdsworth-Carson… - Nature …, 2023 - nature.com
Natural variability in menstrual cycle length, coupled with rapid changes in endometrial
gene expression, makes it difficult to accurately define and compare different stages of the …

Tissue specific regulation of transcription in endometrium and association with disease

S Mortlock, RI Kendarsari, JN Fung… - Human …, 2020 - academic.oup.com
STUDY QUESTION Are genetic effects on endometrial gene expression tissue specific
and/or associated with reproductive traits and diseases? SUMMARY ANSWER Analyses of …