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The Effect of Assisted Reproductive Technologies on Human Sex Ratios.
Aust N Z J Obstet Gynaecol
January 2025
Reproductive Services Unit, The Royal Women's Hospital, Parkville, Australia.
Background: Modern assisted reproductive technology (ART), including pre-implantation genetic testing for aneuploidy (PGT-A), has opened new avenues in understanding early embryonic events and has simultaneously raised questions about the impact of ART itself on sex ratios.
Aims: The primary aim was to investigate whether patient demographic characteristics, ovarian stimulation protocols or laboratory characteristics in ART influence sex ratios. The secondary aim was to relate the blastocyst sex ratio (BSR) to the corresponding secondary sex ratio (SSR) in our patient cohort.
WDR74-Mediated Ribosome Biogenesis and Proteome Dynamics During Mouse Preimplantation Development.
Genes Cells
January 2025
Advanced Biological Information Research Division, INAMORI Frontier Research Center, Kyushu University, Fukuoka, Japan.
Preimplantation embryonic development is orchestrated by dynamic changes in the proteome and transcriptome, regulated by mechanisms such as maternal-to-zygotic transition. Here, we employed label-free quantitative proteomics to comprehensively analyze proteome dynamics from germinal vesicle oocytes to blastocysts in mouse embryos. We identified 3490 proteins, including 715 consistently detected across all stages, revealing stage-specific changes in proteins associated with translation, protein modification, and mitochondrial metabolism.
View Article and Find Full Text PDFFamily planning and preimplantation testing: family experiences in congenital adrenal hyperplasia.
Front Endocrinol (Lausanne)
January 2025
Department of Endocrinology, Sydney Children's Hospital, Randwick, NSW, Australia.
Introduction: Pre-implantation testing (PGT) is often suggested by healthcare professionals (HCP) to parents of children with congenital adrenal hyperplasia (CAH) considering subsequent children. Despite this, some families choose to conceive naturally without genetic testing and intervention. The aims of this study were to explore fertility choices of couples with a child with CAH and the decision making process and perceptions behind these choices, and to explore the families' lived experiences with CAH and the couples' subsequent fertility journey.
View Article and Find Full Text PDFAn Integrative Approach to Precision Pre-implantation Genetic Diagnosis by Investigating Single-cell Sequencing, Polygenic Risk Assessment, Artificial Intelligence-guided Embryo Selection and Genome Editing in Embryos with COL4A1 c.1537G>A Mutation.
J Hum Reprod Sci
December 2024
Department of Genomics, Sandor Speciality Diagnostics, Hyderabad, Telangana, India.
Non-canonical imprinting, manifesting as post-fertilization placenta-specific parent-of-origin dependent methylation, is not conserved in humans.
Hum Mol Genet
January 2025
Biomedical Research Centre, School of Biological Sciences, University of East Anglia, Norwich Research Park, Earlham Road, Norwich NR4 6PN, United Kingdom.
Genomic imprinting is the parent-of-origin dependent monoallelic expression of genes often associated with regions of germline-derived DNA methylation that are maintained as differentially methylated regions (gDMRs) in somatic tissues. This form of epigenetic regulation is highly conserved in mammals and is thought to have co-evolved with placentation. Tissue-specific gDMRs have been identified in human placenta, suggesting that species-specific imprinting dependent on unorthodox epigenetic establishment or maintenance may be more widespread than previously anticipated.
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