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Retinal Phenotypes and Single-cell Sequencing Analysis of Ush2a Knockout Mice.
Exp Eye Res
January 2025
Shenzhen Eye Hospital, Jinan University, Shenzhen Eye Institute, Shenzhen, 518040 Guangdong, China. Electronic address:
Usher syndrome is a rare autosomal recessive genetic disorder that primarily affects both vision and hearing, manifesting as sensorineural hearing loss and progressive vision loss caused by retinitis pigmentosa. The pathogenesis of retinal degeneration in Usher syndrome is still largely unknown. In this study, a novel Ush2a knockout mouse model was successfully constructed using CRISPR/Cas9 technology.
View Article and Find Full Text PDFAlström syndrome: A rare cause of dilated cardiomyopathy in five Chinese children.
Gene
January 2025
Department of Cardiology, Children's Hospital of Nanjing Medical University, Nanjing 210008, China. Electronic address:
Backgroud: The ALMS1 gene is predominantly localized to cilia, particularly in the photoreceptor cells of the retina, auditory neurons, kidneys, and other ciliated structures. Pathogenic mutations in this gene cause Alstrom syndrome (AS), which is characterized by dilated cardiomyopathy, retinal degeneration, neurodeafness, and centripetal obesity. However, the genetic mechanism of the ALMS1 gene remains unclear.
View Article and Find Full Text PDFGeneration of two induced pluripotent stem cell lines from Loeys-Dietz syndrome patients carrying heterologous mutation of TGFBR1.
Stem Cell Res
January 2025
Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305, USA; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA. Electronic address:
Loeys-Dietz Syndrome (LDS) is a rare autosomal dominant connective tissue disorder characterized by vascular aneurysms, arterial dissections, and distinct craniofacial and skeletal anomalies. This study focuses on generating and characterizing two induced pluripotent stem cell (iPSC) lines derived from LDS patients with distinct mutations in the TGFBR1 gene. These two iPSC lines were found to display characteristic iPSC morphology, strong expression of pluripotency markers, typical karyotypes, and the capacity for differentiation into the three germ layers.
View Article and Find Full Text PDFDeviant sound frequency and time stimuli in auditory oddball tasks reveal persistent aberrant brain activity in patients with psychosis and symptomatic remission.
J Psychiatr Res
January 2025
Department of Psychiatry and Clinical Psychology, Clínica Universidad de Navarra, Pamplona, Spain; Instituto de Investigación Sanitaria de Navarra (IdiSNA), Pamplona, Spain.
The detection of rare or deviant stimuli shares common brain circuits involved in temporal processing and salience, critical for cognitive control. Disruption in these processes may contribute to the mechanisms of the disease and explain cognitive deficits observed in psychosis and related disorders. We designed a neuroimaging study, using oddball task-based functional sequences (fMRI) and diffusion tensor imaging (DTI), comparing healthy controls (HC, n = 14, 7 females) and patients with stable psychosis (PSY, n = 20, 10 females).
View Article and Find Full Text PDFDyadic adjustment of persons with albinism and their significant other: A Bayesian mediation model of the Actor-Partner Interdependence (APIMeM).
Soc Sci Med
January 2025
Laboratory of Psychology (LabPsy) UR 4139, University of Bordeaux, F-33000, Bordeaux, France. Electronic address:
Background: Limited standardized empirical research exists in France on the psychosocial implications of albinism, prompting an investigation into how affected persons adapt to their disabilities. Recent advancements in health psychology have led researchers to adopt a systemic approach, considering disabilities and involving close relatives in the adaptation process. The aim of this study was to explore the mediating role of dyadic coping within family dyads, where one is a person with albinism (PWA) and the other is a close relative.
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