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http://dx.doi.org/10.1136/bmj.321.7271.1240 | DOI Listing |
Heliyon
January 2025
Molecular Diagnosis Center, Affiliated Qingyuan Hospital, Guangzhou Medical University (Qingyuan People's Hospital), 511518, Qingyuan, China.
Background: The fetal fraction (FF) is a critical factor influencing the performance of non-invasive prenatal testing (NIPT). Different NIPT methods and sequencing depths can lead to distinct minimum FF thresholds for Trisomy 21 (T21). This study aims to analyze the minimum FF thresholds for detecting T21 in PCR-free NIPT using a low-depth whole genome sequencing method.
View Article and Find Full Text PDFPlant Cell Rep
January 2025
School of Life Science, Anhui Agricultural University, Hefei, 230036, China.
SmbHLH93can activate the expression of SmCHS, SmANS, SmDFR and SmF3H.Overexpression of SmbHLH93promotes anthocyanin biosynthesis. SmbHLH93can interact with SmMYB1 to promote anthocyanin accumulation.
View Article and Find Full Text PDFMed Sci (Basel)
December 2024
Department of Medical Genetics, Faculty of Medicine, Medical University of Varna, 9002 Varna, Bulgaria.
: NIPT is a widely implemented method for prenatal screening of chromosomal disorders. Its introduction initiated the practice of counseling women pre- and post-analytically. Since the test's usage is established in different conditions, comparing data from various socioeconomic and cultural backgrounds would be of scientific value.
View Article and Find Full Text PDFClin Genet
January 2025
Programa de Pós-graduação em Ciências da Saúde, Universidade de Brasília, Brasília, Brazil.
Silver-Russell Syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction. Most cases are caused by an imprinting error either with hypomethylation of the Imprinted Control Region 1 at 11p15.5, or maternal uniparental disomy of chromosome 7.
View Article and Find Full Text PDFACR Open Rheumatol
January 2025
Sidney Kimmel Medical College at Thomas Jefferson University and Jefferson Einstein Hospital, Philadelphia, Pennsylvania.
Objective: Systemic lupus erythematosus (SLE) and Sjögren disease (SjD) are autoimmune diseases with significant female predominance. The prevalence of SLE is increased in Klinefelter syndrome (KS) compared with the general male population. Our study investigates the dose effects of extra X chromosomes on the development of SLE and SjD in KS and triple X syndrome compared with the general population.
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