From Conception to Birth: Embryonic Development and Disease

A special issue of Medicina (ISSN 1648-9144).

Deadline for manuscript submissions: 31 May 2025 | Viewed by 639

Special Issue Editors


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Department of Histology-Embryology, School of Medicine, Aristotle University of Thessaloniki, 54655 Thessaloniki, Greece
Interests: histology; embryology; histopathology (surgical anatomy)
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Guest Editor
Laboratory of Histology-Embryology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece
Interests: histology; embryology; electron microscopy; cell cultures
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Special Issue Information

Dear Colleagues,

The intricate processes that occur during embryonic development are vital for the formation and functioning of organs, tissues, and systems in the human body. Any disruptions during this period can have lasting effects on an individual's health. Understanding these events is crucial not only for exploring the origins of life but also for gaining insights into various diseases and conditions that may emerge later in adulthood. This Special Issue delves into the timeline of fetal development, examining aspects of embryonic growth and its connection to health. Researchers are encouraged to submit articles exploring organogenesis, cell differentiation, genetic regulation, environmental influences, reproduction, sex determination, pregnancy, congenital anomalies, and the physiological basis of diseases. Studying this area may reveal links between early life events and disease onset, potentially informing new approaches to address health issues.

You may choose our Joint Special Issue in Biology.

Dr. Paschalis Theotokis
Prof. Dr. Soultana Meditskou
Dr. Maria Eleni Manthou
Guest Editors

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Keywords

  • embryology
  • organogenesis
  • cell differentiation
  • gametes
  • reproduction
  • sex ratio
  • birth defects
  • pathophysiology
  • disease

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Published Papers (1 paper)

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Review

21 pages, 859 KiB  
Review
Phospholipase Cζ, the Molecular Spark of Fertilization and Male Infertility: Insights from Bench to Bedside
by Aris Kaltsas, Maria-Anna Kyrgiafini, Zissis Mamuris, Fotios Dimitriadis, Athanasios Zachariou, Michael Chrisofos and Nikolaos Sofikitis
Medicina 2025, 61(6), 963; https://doi.org/10.3390/medicina61060963 - 23 May 2025
Viewed by 260
Abstract
Phospholipase C zeta (PLCζ) has emerged as a pivotal sperm-specific factor responsible for triggering oocyte activation, a process essential for successful fertilization and early embryogenesis. A narrative review was conducted to examine the molecular architecture and biochemical features of PLCζ, with particular emphasis [...] Read more.
Phospholipase C zeta (PLCζ) has emerged as a pivotal sperm-specific factor responsible for triggering oocyte activation, a process essential for successful fertilization and early embryogenesis. A narrative review was conducted to examine the molecular architecture and biochemical features of PLCζ, with particular emphasis on how its distinctive structural domains facilitate the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) and the induction of calcium (Ca2+) oscillations in the oocyte. Notably, PLCζ exhibits unique sensitivity to basal Ca2+ levels and the capacity to sustain repetitive intracellular Ca2+ transients that drive meiotic progression and block polyspermy. Clinically, PLCζ deficiency—whether caused by genetic mutations, reduced expression, or improper localization—represents a unifying explanation for certain forms of male infertility, including total fertilization failure (TFF) following intracytoplasmic sperm injection (ICSI). Globozoospermia is a prime example; this condition is characterized by round-headed sperm devoid of acrosomes and exhibiting significantly reduced or absent PLCζ and often results in fertilization failure. Diagnostic methods such as immunofluorescence, Western blotting, and the mouse oocyte-activation test collectively support the identification and characterization of PLCζ-related defects, while genetic testing for mutations in the PLCZ1 gene has proven valuable for identifying hereditary causes of sperm-borne oocyte-activation deficiency (OAD). Therapeutic approaches range from assisted oocyte activation (AOA) with calcium ionophores to emerging interventions that introduce functional PLCζ protein or mRNA directly into the oocyte. These advancements demonstrate the rapid translation of foundational discoveries into clinically actionable interventions. Future investigations are poised to refine diagnostic assays, standardize measurement protocols, and explore the potential of gene therapy or CRISPR/Cas9-mediated correction for heritable PLCζ abnormalities. By addressing both the molecular basis and translational applications of PLCζ, recent findings underscore its indispensable role in fertility care and lay out a path toward further innovation in assisted reproductive technologies. Full article
(This article belongs to the Special Issue From Conception to Birth: Embryonic Development and Disease)
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