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Oocyte/zygote/embryo maturation arrest: a clinical study expanding the phenotype of NOBOX variants.
J Assist Reprod Genet
January 2025
Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Clinical Sciences, Research Group Genetics, Reproduction and Development, Centre for Medical Genetics, Laarbeeklaan 101, 1090, Brussels, Belgium.
Purpose: Primary ovarian insufficiency (POI) is an important cause of female infertility, stemming from follicle dysfunction or premature oocyte depletion. Pathogenic variants in genes such as NOBOX, GDF9, BMP15, and FSHR have been linked to POI. NOBOX, a transcription factor expressed in oocytes and granulosa cells, plays a pivotal role in folliculogenesis.
View Article and Find Full Text PDFImpact and mechanism of the TBX-22 gene mutation G874A on the epithelial-mesenchymal transition in medial edge epithelial cells.
In Vitro Cell Dev Biol Anim
January 2025
Department of Oral and Maxillofacial Surgery, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, 250012, Shandong, China.
Cleft lip and palate (CL/P) are prevalent congenital anomalies with complex genetic causes. The G874A mutation of T-box transcription factor 22 (TBX-22) gene is notably associated with CL/P, while the underlying mechanism remains to be clarified. Studies have shown that the restriction of epithelial-mesenchymal transformation (EMT) process in medial edge epithelial cells (MEEs) is crucial for CL/P development.
View Article and Find Full Text PDFImpact of SARS-CoV-2 variants on viral infectivity and the role of the renin-angiotensin-aldosterone system.
Hypertens Res
January 2025
Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.
Balance between Protective vs. Exacerbating Effects of ACEIs and ARBs in Omicron Variant Infections. The spike protein on the surface of the Omicron variant has a high affinity for ACE2, making it more prone to enter cells and induce ACE2 downregulation.
View Article and Find Full Text PDFUnveiling the role of PANoptosis-related genes in breast cancer: an integrated study by multi-omics analysis and machine learning algorithms.
Breast Cancer Res Treat
January 2025
Department of Breast Surgery, Thyroid Surgery, Huangshi Central Hospital, Affiliated Hospital of Hubei Polytechnic University, No.141, Tianjin Road, Huangshi, 435000, Hubei, China.
Background: The heterogeneity of breast cancer (BC) necessitates the identification of novel subtypes and prognostic models to enhance patient stratification and treatment strategies. This study aims to identify novel BC subtypes based on PANoptosis-related genes (PRGs) and construct a robust prognostic model to guide individualized treatment strategies.
Methods: The transcriptome data along with clinical data of BC patients were sourced from the TCGA and GEO databases.
Alcohol drinking leads to sex-dependent differentiation of T cells.
Eur J Trauma Emerg Surg
January 2025
Department of Trauma Surgery and Orthopedics, Goethe University, University Hospital, Frankfurt, Germany.
Objective: Global per capita alcohol consumption is increasing, posing significant socioeconomic and medical challenges also due to alcohol-related traumatic injuries but also its biological effects. Trauma as a leading cause of death in young adults, is often associated with an increased risk of complications, such as sepsis and multiple organ failure, due to immunological imbalances. Regulatory T cells play a crucial role in maintaining immune homeostasis by regulating the inflammatory response.
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