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A case of Li-Fraumeni syndrome caused by a 3.6 kb deletion in the TP53 gene suggested by additional data from the NCC Oncopanel.
Jpn J Clin Oncol
January 2025
Division of Molecular and Cellular Oncology, Miyagi Cancer Center Research Institute, 47-1 Nodayama, Medeshima-Shiode, Natori, Miyagi 981-1293, Japan.
A Japanese woman with Li-Fraumeni syndrome in her 40s underwent comprehensive genetic profiling accompanied by germline data using the Oncoguide NCC Oncopanel, but no germline pathogenic variants in the tumor suppressor gene TP53 were detected. However, careful examination of additional data in the report suggested the presence of a large TP53 deletion. Custom targeting next-generation sequencing and nanopore sequencing revealed a 3.
View Article and Find Full Text PDFDetection of Insertion/Deletions (InDel) Within Five Clock Genes and Their Associations with Growth Traits in Four Chinese Sheep Breeds.
Vet Sci
January 2025
College of Animal Science and Technology, Northwest A&F University, Yangling 712100, China.
Organisms have the capacity to detect day-night fluctuations through oscillators regulated by circadian clock genes, which are crucial for regulating various biological processes. Numerous studies have demonstrated a marked association between these genes and various growth traits of sheep. This study identified polymorphisms at 23 potential loci within five clock genes in four Chinese sheep breeds.
View Article and Find Full Text PDFRapid and scalable personalized ASO screening in patient-derived organoids.
Nature
January 2025
Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA.
Personalized antisense oligonucleotides (ASOs) have achieved positive results in the treatment of rare genetic disease. As clinical sequencing technologies continue to advance, the ability to identify patients with rare disease harbouring pathogenic genetic variants amenable to this therapeutic strategy will probably improve. Here we describe a scalable platform for generating patient-derived cellular models and demonstrate that these personalized models can be used for preclinical evaluation of patient-specific ASOs.
View Article and Find Full Text PDFGenetic analysis of a pedigree with hereditary coagulation factor XII deficiency.
Ann Hematol
January 2025
Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
Analyze the clinical phenotype and gene mutations of a family with hereditary FXII deficiency, and preliminarily explore its phenotypic manifestations. The routine coagulation indicators and related coagulation factors were measured.Thromboelastography and thrombin generation tests simulated coagulation and anticoagulation states in vitro and in vivo.
View Article and Find Full Text PDFTranscription factors induce differential splicing of duplicated ribosomal protein genes during meiosis.
Nucleic Acids Res
January 2025
Département de microbiologie et d'infectiologie, Faculté de médecine et des sciences de la santé, Université de Sherbrooke, 3201 rue Jean-Mignault, Sherbrooke, QC J1E 4K8, Canada.
In baker's yeast, genes encoding ribosomal proteins often exist as duplicate pairs, typically with one 'major' paralog highly expressed and a 'minor' less expressed paralog that undergoes controlled expression through reduced splicing efficiency. In this study, we investigate the regulatory mechanisms controlling splicing of the minor paralog of the uS4 protein gene (RPS9A), demonstrating that its splicing is repressed during vegetative growth but upregulated during meiosis. This differential splicing of RPS9A is mediated by two transcription factors, Rim101 and Taf14.
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