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Gynecologic Diseases: From Molecular Basis to Therapy

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 30 September 2025 | Viewed by 5447

Special Issue Editor


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Guest Editor
Momo Fertilife Clinic, 2, 76011 Bisceglie, Italy
Interests: reproductive endocrinology; infertility treatment; IVF
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Even today, after many years of study and research, many gynecological diseases still do not have a clear pathogenetic definition. The situation is even more compromised in the field of gynecological diseases that make patients infertile or subfertile. Much has been published on these topics, but in many cases the final word on pathogenetic mechanisms has not yet been written.

Therefore, a Special Issue like this one wants to both draw attention to the mechanisms underlying these pathologies and to verify whether new notions on these topics can open new avenues for therapy.

As everyone knows, in recent years genetics has made truly important progress in explaining many pathologies that seem to be an inextricable tangle: just think of the genetic typing of tumors. In this issue, we also expect a focus based on genetic experiences that help to understand the mechanisms of the pathologies mentioned above.

Assured that these topics will stimulate research, we eagerly await a significant contribution from you on this subject.

Dr. Domenico Baldini
Guest Editor

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Keywords

  • infertility
  • sterility
  • gynecologic desease
  • genetic
  • IVF
  • gynecologic therapies

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Published Papers (2 papers)

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Research

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17 pages, 12428 KiB  
Article
Olaparib Combined with DDR Inhibitors Effectively Prevents EMT and Affects miRNA Regulation in TP53-Mutated Epithelial Ovarian Cancer Cell Lines
by Patrycja Gralewska, Łukasz Biegała, Arkadiusz Gajek, Izabela Szymczak-Pajor, Agnieszka Marczak, Agnieszka Śliwińska and Aneta Rogalska
Int. J. Mol. Sci. 2025, 26(2), 693; https://doi.org/10.3390/ijms26020693 - 15 Jan 2025
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Abstract
Epithelial ovarian cancer (EOC) remains a leading cause of gynecologic cancer mortality. Despite advances in treatment, metastatic progression and resistance to standard therapies significantly worsen patient outcomes. Epithelial–mesenchymal transition (EMT) is a critical process in metastasis, enabling cancer cells to gain invasive and [...] Read more.
Epithelial ovarian cancer (EOC) remains a leading cause of gynecologic cancer mortality. Despite advances in treatment, metastatic progression and resistance to standard therapies significantly worsen patient outcomes. Epithelial–mesenchymal transition (EMT) is a critical process in metastasis, enabling cancer cells to gain invasive and migratory capabilities, often driven by changing miRNA expression involved in the regulation of pathological processes like drug resistance. Targeted therapies like PARP inhibitors (PARPi) have improved outcomes, particularly in BRCA-mutated and DNA repair-deficient tumors; however, resistance and limited efficacy in advanced stages remain challenges. Recent studies highlight the potential synergy of PARPi with DNA damage response (DDR) inhibitors, such as ATR and CHK1 inhibitors, which disrupt cancer cell survival pathways under stress. This study investigated the combined effects of olaparib with ATR and CHK1 inhibitors (ATRi and CHK1i) on migration, invasion, and EMT-related protein expression and miRNA expression in ovarian cancer cell lines OV-90 and SKOV-3. The results demonstrated enhanced cytotoxicity, inhibition of migration and invasion, and modulation of miRNAs linked to metastasis. These findings suggest that combination therapies targeting DNA repair and cell cycle pathways may offer a novel, more effective approach to managing advanced EOC and reducing metastatic spread. Full article
(This article belongs to the Special Issue Gynecologic Diseases: From Molecular Basis to Therapy)
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Review

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17 pages, 2478 KiB  
Review
Genetic Abnormalities of Oocyte Maturation: Mechanisms and Clinical Implications
by Giorgio Maria Baldini, Daniele Ferri, Antonio Malvasi, Antonio Simone Laganà, Antonella Vimercati, Miriam Dellino, Domenico Baldini and Giuseppe Trojano
Int. J. Mol. Sci. 2024, 25(23), 13002; https://doi.org/10.3390/ijms252313002 - 3 Dec 2024
Cited by 2 | Viewed by 4025
Abstract
Genetic anomalies in oocyte maturation present significant fertility and embryonic development challenges. This review explores the intricate mechanisms of nuclear and cytoplasmic maturation, emphasizing the genetic and molecular factors contributing to oocyte quality and competence. Chromosomal mutations, errors in segregation, genetic mutations in [...] Read more.
Genetic anomalies in oocyte maturation present significant fertility and embryonic development challenges. This review explores the intricate mechanisms of nuclear and cytoplasmic maturation, emphasizing the genetic and molecular factors contributing to oocyte quality and competence. Chromosomal mutations, errors in segregation, genetic mutations in signaling pathways and meiosis-related genes, and epigenetic alterations are discussed as critical contributors to oocyte maturation defects. The role of mitochondrial defects, maternal mRNA dysregulation, and critical proteins such as NLRP14 and BMP6 are highlighted. Understanding these genetic factors is crucial for improving diagnostic approaches and therapeutic interventions in reproductive medicine, particularly for couples encountering recurrent in vitro fertilization failures. This review will explore how specific genetic mutations impact fertility treatments and reproductive success by examining the intricate oocyte maturation process. We will focus on genetic abnormalities that may disrupt the oocyte maturation pathway, discussing the underlying mechanisms involved and considering their potential clinical implications for enhancing fertility outcomes. Full article
(This article belongs to the Special Issue Gynecologic Diseases: From Molecular Basis to Therapy)
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