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Biallelic mutations in CDC20 cause female infertility due to oocyte maturation abnormality.
Gynecol Endocrinol
December 2025
Department of Reproductive Medicine, the Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai, Shandong, China.
Oocyte maturation arrest (OMA) may occur at different stages, including the germinal vesicle (GV), metaphase I (MI), and metaphase II (MII). A total maturation arrest of human oocytes is rarely observed during fertilization (IVF). We have identified a case of infertile female for whom all oocytes fail to mature and are arrested at MI.
View Article and Find Full Text PDFCalcium-binding protein CALU-1 is essential for proper collagen formation in Caenorhabditis elegans.
Cell Mol Life Sci
January 2025
Department of Infection Biology, Wonkwang University School of Medicine, Iksan, 54538, Republic of Korea.
Collagen, a major component of the extracellular matrix, is crucial for the structural integrity of the Caenorhabditis elegans cuticle. While several proteins involved in collagen biosynthesis have been identified, the complete regulatory network remains unclear. This study investigates the role of CALU-1, an ER-resident calcium-binding protein, in cuticle collagen formation and maintenance.
View Article and Find Full Text PDFA Primer on the Role of TP53 Mutation and Targeted Therapy in Endometrial Cancer.
Front Biosci (Landmark Ed)
January 2025
Department of Oncology, The First Affiliated Hospital of Zhengzhou Hospital of Zhengzhou University, 450000 Zhengzhou, Henan, China.
Endometrial Cancer (EC) is one of the most common gynecological malignancies, ranking first in developed countries and regions. The occurrence and development of EC is closely associated with genetic mutations. mutation, in particular, can lead to the dysfunction of numerous regulatory factors and alteration of the tumor microenvironment (TME).
View Article and Find Full Text PDFMendelian Randomization Study Reveals Causal Pathways for Hypertrophic Cardiomyopathy, Cardiovascular Proteins, and Atrial Fibrillation.
Br J Hosp Med (Lond)
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The Cardiology Department of Shanxi Provincial People's Hospital, Shanxi Medical University, Taiyuan, Shanxi, China.
Research evidence has demonstrated a significant association between hypertrophic cardiomyopathy (HCM) and atrial fibrillation (AF), but the causality and pattern of this link remain unexplored. Therefore, this study investigated the causal relationship between HCM and AF using a two-sample and bidirectional Mendelian randomization (MR) approach. Additionally, this assessed the role of cardiovascular proteins (CPs) associated with cardiovascular diseases between HCM and AF by applying a two-step MR analysis.
View Article and Find Full Text PDFImmune Cell Characteristics and Infections Associated with Chronic Obstructive Pulmonary Disease (COPD), Asthma, and Interstitial Lung Disease (ILD): A Mendelian Randomization Studies.
Br J Hosp Med (Lond)
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Department of Infectious Diseases, The First Affiliated Hospital of Soochow University, Suzhou, Jiangsu, China.
Epidemiological studies indicate that the involvement of the immune system in the pathogenesis of infections associated with chronic obstructive pulmonary disease (COPD), asthma, and interstitial lung disease (ILD) remains unclear. This study aims to assess the potential causal link between infections associated with COPD, asthma, or ILD and immune system function. We conducted a two-sample Mendelian randomization analysis using publicly available genome-wide association study (GWAS) datasets.
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