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High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands.
Hum Genomics
January 2025
Department of Endocrine and Metabolic Diseases, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.
Background: The molecular genetic diagnosis of congenital adrenal hyperplasia (CAH) is very challenging due to the high homology between the CYP21A2 gene and its pseudogene CYP21A1P.
Methodology: This study aims to assess the clinical efficacy of targeted long-read sequencing (T-LRS) by comparing it with a control method based on the combined assay (NGS, Multiplex ligation-dependent probe amplification and Sanger sequencing) and to introduce T-LRS as a first-tier diagnostic test for suspected CAH patients to improve the precise diagnosis of CAH.
Results: A large cohort of 562 participants including 322 probands and 240 family members was enrolled for the perspective (96 probands) and prospective study (226 probands).
Developing Mobile Health Applications for Inflammatory Bowel Disease: A Systematic Review of Features and Technologies.
Middle East J Dig Dis
October 2024
Department of Health Information Technology, Ferdows Faculty of Medical Sciences, Birjand University of Medical Sciences, Birjand, Iran.
Background: Patients with inflammatory bowel disease (IBD) require lifelong treatment, which significantly impacts their quality of life. Self-management of this disease is an effective factor in managing chronic conditions and improving patients' quality of life. The use of mobile applications is a novel approach to providing self-management models and healthcare services for patients with IBD.
View Article and Find Full Text PDFDiversification and recurrent adaptation of the synaptonemal complex in Drosophila.
PLoS Genet
January 2025
Department of Zoology, University of British Columbia, Vancouver, British Columbia, Canada.
The synaptonemal complex (SC) is a protein-rich structure essential for meiotic recombination and faithful chromosome segregation. Acting like a zipper to paired homologous chromosomes during early prophase I, the complex is a symmetrical structure where central elements are connected on two sides by the transverse filaments to the chromatin-anchoring lateral elements. Despite being found in most major eukaryotic taxa implying a deeply conserved evolutionary origin, several components of the complex exhibit unusually high rates of sequence turnover.
View Article and Find Full Text PDFComparative genomic analysis of Fusarium oxysporum f. sp. lycopersici reveals telomeric duplications of a lineage-specific region carrying SIX8 and PSL1 and genome-wide expansion of Foxy transposable elements.
Int J Biol Macromol
January 2025
State Key Laboratory of North China Crop Improvement and Regulation, Hebei Agricultural University, Baoding 071000, China; Key Laboratory of Vegetable Germplasm Innovation and Utilization of Hebei, Ministry of Education of China-Hebei Province Joint Innovation Center for Efficient Green Vegetable Industry, College of Horticulture, Hebei Agricultural University, Baoding 071000, China; Division of Plant Sciences, Research School of Biology, Australian National University, Canberra, ACT 2601, Australia. Electronic address:
Fusarium oxysporum f. sp. lycopersici (Fol), the causal agent of tomato wilt disease, is a soil-borne, vascular-colonizing fungal pathogen that severely impacts tomato production in most growing regions worldwide.
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