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Somatic Instability Leading to Mosaicism in Fragile X Syndrome and Associated Disorders: Complex Mechanisms, Diagnostics, and Clinical Relevance.
Int J Mol Sci
December 2024
Department of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Sacramento, CA 95817, USA.
Fragile X syndrome (FXS) is a genetic condition caused by the inheritance of alleles with >200 CGG repeats in the 5' UTR of the fragile X messenger ribonucleoprotein 1 () gene. These full mutation (FM) alleles are associated with DNA methylation and gene silencing, which result in intellectual disabilities, developmental delays, and social and behavioral issues. Mosaicism for both the size of the CGG repeat tract and the extent of its methylation is commonly observed in individuals with the FM.
View Article and Find Full Text PDFAutism is clinically defined by challenges with social language, including difficulties offering on-topic language in a conversation. Similar differences are also seen in genetically related conditions such as fragile X syndrome (FXS), and even among those carrying autism-related genes who do not have clinical diagnoses (e.g.
View Article and Find Full Text PDFGenetic study on candidates for oocyte donation.
JBRA Assist Reprod
December 2024
Genetics Unit, Department of Pathology, University of Porto, Alameda Professor Hernâni Monteiro, 4200-319, Porto, Portugal.
Objective: There is a rising demand for assisted reproductive medicine, including sperm, oocyte and embryo donation. Besides medical and legal considerations, genetic testing, including carrier screening for multiple autosomal and X-linked recessive disorders plays an essential role in evaluating hereditary risk among donors and therefore exclude them from the donation process.
Methods: A retrospective study was conducted on oocyte donors from a private clinic of assisted reproduction who underwent genetic testing between June 2014 and September 2023.
Genetics architecture of spontaneous coronary artery dissection in an Italian cohort.
Front Cardiovasc Med
November 2024
Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.
Spontaneous coronary artery dissection (SCAD) is a relevant non-atherosclerotic cause of acute coronary syndrome with a complex genetic architecture. Recent discoveries have highlighted the potential role of miRNAs and protein-coding genes involved in the processing of small RNAs in the pathogenesis of SCAD. Furthermore, there may be a connection between SCAD and the increased cardiovascular risk observed in fragile X premutation carriers as well as a correlation with pathogenetic variants in genes encoding for collagen and extracellular matrix, which are related to connective tissue disorders (CTDs).
View Article and Find Full Text PDFWomen's healthcare providers' knowledge and practices surrounding fragile-X associated primary ovarian insufficiency (FXPOI).
J Assist Reprod Genet
December 2024
Department of Human Genetics, Emory University School of Medicine, 615 Michael St. Suite 301, Atlanta, GA, 30322, USA.
Purpose: This study investigates the knowledge gaps about fragile X-associated primary ovarian insufficiency (FXPOI) among women's healthcare providers. Previous research highlighted a lack of awareness regarding FXPOI as a cause of primary ovarian insufficiency (POI) and its diagnosis. The objective of this study was to describe these gaps and explore demographic factors influencing FXPOI knowledge in women's healthcare practitioners.
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