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It is well known that activation of NMDA receptors can trigger long-term synaptic depression (LTD) and that a morphological correlate of this functional plasticity is spine retraction and elimination. Recent studies have led to the surprising conclusion that NMDA-induced spine shrinkage proceeds independently of ion flux and requires the initiation of protein synthesis, highlighting an unappreciated contribution of mRNA translation to non-ionotropic NMDAR signaling. Here we used NMDA-induced spine shrinkage in slices of mouse hippocampus as a readout to investigate this novel modality of synaptic transmission.
View Article and Find Full Text PDFStudy Question: Do recent changes in European Society of Human Reproduction and Embryology (ESHRE) clinical guidelines result in more comprehensive diagnosis of women with endometriosis?
Summary Answer: The latest shift in clinical guidelines results in diagnosis of more women with endometriosis but current ESHRE diagnostic criteria do not capture a sizable percentage of women with the disease.
What Is Known Already: Historically, laparoscopy was the gold standard for diagnosing endometriosis, a complex gynecological condition marked by a heterogeneous set of symptoms that vary widely among women. More recently, changes in clinical guidelines have shifted to incorporate imaging-based approaches such as transvaginal sonography and magnetic resonance imaging.
Metabolic rewiring in skin epidermis drives tolerance to oncogenic mutations.
Nat Cell Biol
January 2025
Department of Genetics, Yale School of Medicine, New Haven, CT, USA.
Skin epithelial stem cells correct aberrancies induced by oncogenic mutations. Oncogenes invoke different strategies of epithelial tolerance; while wild-type cells outcompete β-catenin-gain-of-function (βcatGOF) cells, Hras cells outcompete wild-type cells. Here we ask how metabolic states change as wild-type stem cells interface with mutant cells and drive different cell-competition outcomes.
View Article and Find Full Text PDFLong-term correction of hemophilia A via integration of a functionally enhanced FVIII gene into the AAVS1 locus by nickase in patient-derived iPSCs.
Exp Mol Med
January 2025
Department of Physiology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul, 03722, Korea.
Hemophilia A (HA) is caused by mutations in coagulation factor VIII (FVIII). Genome editing in conjunction with patient-derived induced pluripotent stem cells (iPSCs) is a promising cell therapy strategy, as it replaces dysfunctional proteins resulting from genetic mutations with normal proteins. However, the low expression level and short half-life of FVIII still remain significant limiting factors in the efficacy of these approaches in HA.
View Article and Find Full Text PDFNovel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.
J Inherit Metab Dis
January 2025
Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Gyrate atrophy of the choroid and retina (GACR, OMIM #258870) is a rare inherited metabolic disorder characterized by progressive chorioretinal degeneration and hyperornithinemia. Current therapeutic modalities potentially slow disease progression but are not successful in preventing blindness. To allow for trial development, increased knowledge of the clinical phenotype and current therapeutic outcomes is required.
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