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Single-cell sequencing in diabetic retinopathy: progress and prospects.
J Transl Med
January 2025
Department of Ophthalmology, Renmin Hospital of Wuhan University, Jiefang Road, Wuhan, Hubei, 430060, China.
Diabetic retinopathy is a major ocular complication of diabetes, characterized by progressive retinal microvascular damage and significant visual impairment in working-age adults. Traditional bulk RNA sequencing offers overall gene expression profiles but does not account for cellular heterogeneity. Single-cell RNA sequencing overcomes this limitation by providing transcriptomic data at the individual cell level and distinguishing novel cell subtypes, developmental trajectories, and intercellular communications.
View Article and Find Full Text PDFLoss of Kmt2c or Kmt2d primes urothelium for tumorigenesis and redistributes KMT2A-menin to bivalent promoters.
Nat Genet
January 2025
Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Members of the KMT2C/D-KDM6A complex are recurrently mutated in urothelial carcinoma and in histologically normal urothelium. Here, using genetically engineered mouse models, we demonstrate that Kmt2c/d knockout in the urothelium led to impaired differentiation, augmented responses to growth and inflammatory stimuli and sensitization to oncogenic transformation by carcinogen and oncogenes. Mechanistically, KMT2D localized to active enhancers and CpG-poor promoters that preferentially regulate the urothelial lineage program and Kmt2c/d knockout led to diminished H3K4me1, H3K27ac and nascent RNA transcription at these sites, which leads to impaired differentiation.
View Article and Find Full Text PDFSpecialized pericyte subtypes in the pulmonary capillaries.
EMBO J
January 2025
Division of Pulmonary Medicine, Boston Children's Hospital, Boston, MA, 02115, USA.
Pericytes are essential for capillary stability and homeostasis, with impaired pericyte function linked to diseases like pulmonary arterial hypertension. Investigating pericyte biology has been challenging due to the lack of specific markers, making it difficult to distinguish pericytes from other stromal cells. Using bioinformatic analysis and RNAscope, we identified Higd1b as a unique gene marker for pericytes and subsequently generated a knock-in mouse line, Higd1b-CreERT2, that accurately labels pericytes in the lung and heart.
View Article and Find Full Text PDFTSC complex decrease the expression of mTOR by regulated miR-199b-3p.
Sci Rep
January 2025
Key Laboratory of Chemical Biology and Molecular Engineering of National Ministry of Education, Institutes of Biomedical Sciences, Shanxi University, Taiyuan, 030006, China.
The TSC complex formed by TSC1 and TSC2 is the most important upstream negative regulator of mTORC1. Genetic variations in either TSC1 or TSC2 cause tuberous sclerosis complex (TSC) disease which is a rare autosomal dominant disorder resulting in impairment of multiple organ systems. In this study, besides a reported variation, c.
View Article and Find Full Text PDFPrimary ciliary dyskinesia (PCD, OMIM 244400) is a rare genetic disorder that affects motile cilia and is characterised by impaired mucociliary clearance of the airway epithelium, which results in chronic upper and lower airway infections. While short-read next-generation sequencing technology has been used for the genetic testing of PCD, its effectiveness is limited in identifying variants in the gene because of the nearly identical pseudogene As we confirmed that the gene was not expressed in airway cells, we obtained nasal mucosa biopsy specimens for total RNA sequencing (RNA-seq) with library enrichment using exome oligos. Among the 34 nasal samples from patients suspected of having PCD, three aberrant splicing patterns in were identified in two samples.
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