The pathogenesis of endometriosis: molecular and cell biology insights

AS Laganà, S Garzon, M Götte, P Viganò… - International journal of …, 2019 - mdpi.com
The etiopathogenesis of endometriosis is a multifactorial process resulting in a
heterogeneous disease. Considering that endometriosis etiology and pathogenesis are still …

DNA damage in preimplantation embryos and gametes: specification, clinical relevance and repair strategies

R Musson, Ł Gąsior, S Bisogno… - Human Reproduction …, 2022 - academic.oup.com
BACKGROUND DNA damage is a hazard that affects all cells of the body. DNA-damage
repair (DDR) mechanisms are in place to repair damage and restore cellular function, as are …

[HTML][HTML] Understanding the genetic complexity of puberty timing across the allele frequency spectrum

KA Kentistou, LR Kaisinger, S Stankovic, M Vaudel… - Nature …, 2024 - nature.com
Pubertal timing varies considerably and is associated with later health outcomes. We
performed multi-ancestry genetic analyses on~ 800,000 women, identifying 1,080 signals for …

Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on individual …

A Capalbo, M Poli, A Riera-Escamilla… - Human reproduction …, 2021 - academic.oup.com
BACKGROUND Our genetic code is now readable, writable and hackable. The recent
escalation of genome-wide sequencing (GS) applications in population diagnostics will not …

Candidate genes for age at menarche are associated with uterine leiomyoma

I Ponomarenko, E Reshetnikov, A Polonikov… - Frontiers in …, 2021 - frontiersin.org
Age at menarche (AAM) is an important marker of the pubertal development and function of
the hypothalamic–pituitary–ovarian system. It was reported as a possible factor for a risk of …

The evolutionary biology of endometriosis

N Dinsdale, P Nepomnaschy… - Evolution, medicine, and …, 2021 - academic.oup.com
We provide the first analysis and synthesis of the evolutionary and mechanistic bases for risk
of endometriosis in humans, structured around Niko Tinbergen's four questions about …

Candidate genes for age at menarche are associated with endometrial hyperplasia

I Ponomarenko, E Reshetnikov, A Polonikov, I Sorokina… - Gene, 2020 - Elsevier
Objectives To study associations candidate genes for age at menarche with a risk of
endometrial hyperplasia (EH). Methods 52 candidate loci for age at menarche were …

Sex hormone candidate gene polymorphisms are associated with endometriosis

I Golovchenko, B Aizikovich, O Golovchenko… - International Journal of …, 2022 - mdpi.com
The present study was designed to examine whether sex hormone polymorphisms proven
by GWAS are associated with endometriosis risk. Unrelated female participants totaling …

Candidate genes for age at menarche are associated with endometriosis

I Ponomarenko, E Reshetnikov, A Polonikov… - Reproductive …, 2020 - Elsevier
Research question Are the candidate genes for age at menarche associated with a risk of
endometriosis? Design Fifty-two candidate single nucleotide polymorphisms (SNP) for age …

Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects

Q Li, L Zhao, Y Zeng, Y Kuang, Y Guan, B Chen, S Xu… - Genome Biology, 2023 - Springer
Background Oocyte maturation arrest and early embryonic arrest are important reproductive
phenotypes resulting in female infertility and cause the recurrent failure of assisted …