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Background: An estimated 17% of all couples worldwide are involuntarily childless (infertile). The clinically identifiable causes of infertility can be found in the male or female partner or in both. The molecular pathophysiology of infertility still remains unclear in many cases but is increasingly being revealed by genetic analyses.
View Article and Find Full Text PDFInhibition of DEK restores hematopoietic stem cell function in Fanconi anemia.
J Exp Med
March 2025
Department of Hematology, The Second Affiliated Hospital of Chongqing Medical University, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China.
Hematopoietic stem cells (HSCs) are susceptible to replication stress, which is a major contributor to HSC defects in Fanconi anemia (FA). Here, we report that HSCs relax the global chromatin by downregulating the expression of a chromatin architectural protein, DEK, in response to replication stress. DEK is abnormally accumulated in bone marrow (BM) CD34+ cells from patients with FA and in Fancd2-deficient HSCs.
View Article and Find Full Text PDFComparison of clinical artificial oocyte activation protocols on mouse egg activation and embryo development.
Reproduction
January 2025
D Cohen, Fundación IBYME. Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET)., Instituto de Biología y Medicina Experimental, Buenos Aires, Argentina.
Artificial oocyte activation (AOA) with Ca2+ ionophores is an experimental procedure that benefits patients who fail to obtain fertilized eggs. However, the impact of non-physiological Ca2+ increases on cellular events involved in egg-embryo transition and early development remains poorly understood. Using the mouse model, this study compares common Ca2+ ionophore protocols applied in clinical practice - one or two exposures to A23187 or a single exposure to ionomycin - focusing on embryonic development and cellular events associated with egg activation.
View Article and Find Full Text PDFA Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy.
Mol Genet Genomic Med
January 2025
Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Korea.
Background: Leber congenital amaurosis (LCA), the most severe form of inherited retinal dystrophy, is a rare, heterogeneous, genetic eye disease associated with severe congenital visual impairment. RPE65, one of the causative genes for LCA, encodes retinoid isomerohydrolase, an enzyme that plays a critical role in regenerating visual pigment in photoreceptor cells.
Methods: Exome sequencing (ES) was performed on a patient with suspected LCA.
Equol Alleviates the In Vitro Aging-Induced Disruption of Porcine Oocytes.
Reprod Domest Anim
January 2025
College of Animal Science & Technology, Guangxi University, Nanning, Guangxi, China.
Oocyte quality is crucial for determining the subsequent embryo developmental capacity and reproductive outcomes. However, aging is detrimental to oocyte quality. Previous studies have demonstrated that soy isoflavones have positive effects on the reproductive performance of female pigs.
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