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Protecting Future Generations From Hereditary Genetic Disorders Using Preimplantation Genetic Diagnosis: A Narrative Review Article.
Cureus
December 2024
Medicine, College of Medicine, Taibah University, Medina, SAU.
Preimplantation genetic diagnosis (PGD) is provided by majority of reproductive clinics in the United States (US), and PGD is used in many in vitro fertilization (IVF) procedures every year. PGD is extensively used to screen for certain genetic abnormalities and aneuploidy in individuals undergoing IVF. Genetic disorders are very prevalent in Saudi Arabia.
View Article and Find Full Text PDFSexual dimorphism in lung transcriptomic adaptations in fetal alcohol spectrum disorders.
Respir Res
January 2025
Department of Obstetrics and Gynecology, C.S. Mott Center for Human Growth and Development, School of Medicine, Wayne State University, 275 E Hancock St, Rm 195, Detroit, MI, 48201, USA.
Current fetal alcohol spectrum disorders (FASD) studies primarily focus on alcohol's actions on the fetal brain although respiratory infections are a leading cause of morbidity/mortality in newborns. The limited studies examining the pulmonary adaptations in FASD demonstrate decreased surfactant protein A and alveolar macrophage phagocytosis, impaired differentiation, and increased risk of Group B streptococcal pneumonia with no study examining sexual dimorphism in adaptations. We hypothesized that developmental alcohol exposure in pregnancy will lead to sexually dimorphic fetal lung morphological and immune adaptations.
View Article and Find Full Text PDFGenomic Landscape of Chromosome X Factor VIII: From Hemophilia A in Males to Risk Variants in Females.
Genes (Basel)
November 2024
Department of Mathematics, University of North Alabama, Florence, AL 35632, USA.
Background: Variants within factor VIII (F8) are associated with sex-linked hemophilia A and thrombosis, with gene therapy approaches being available for pathogenic variants. Many variants within F8 remain variants of uncertain significance (VUS) or are under-explored as to their connections to phenotypic outcomes.
Methods: We assessed data on F8 expression while screening the UniProt, ClinVar, Geno2MP, and gnomAD databases for F8 missense variants; these collectively represent the sequencing of more than a million individuals.
ARID1A governs the silencing of sex-linked transcription during male meiosis in the mouse.
Elife
November 2024
Department of Genetics, and Lineberger Comprehensive Cancer Center, The University of North Carolina at Chapel Hill, Chapel Hill, United States.
We present evidence implicating the BAF (BRG1/BRM Associated Factor) chromatin remodeler in meiotic sex chromosome inactivation (MSCI). By immunofluorescence (IF), the putative BAF DNA binding subunit, ARID1A (AT-rich Interaction Domain 1 a), appeared enriched on the male sex chromosomes during diplonema of meiosis I. Germ cells showing a Cre-induced loss of ARID1A arrested in pachynema and failed to repress sex-linked genes, indicating a defective MSCI.
View Article and Find Full Text PDFPartial Amelogenesis Imperfecta: A Report of a Rare Case.
Cureus
November 2024
College of Dentistry, King Saud University, Riyadh, SAU.
Amelogenesis imperfecta is a collection of genetic disorders that impair the structure of dental enamel. The condition presents in a variety of ways, affecting enamel development, mineralization, and maturation. Amelogenesis imperfecta can follow various inheritance patterns, including autosomal dominant, autosomal recessive, sex-linked, and sporadic.
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