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Human organoids for rapid validation of gene variants linked to cochlear malformations.
Hum Genet
January 2025
John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Developmental anomalies of the hearing organ, the cochlea, are diagnosed in approximately one-fourth of individuals with congenital. The majority of patients with cochlear malformations remain etiologically undiagnosed due to insufficient knowledge about underlying genes or the inability to make conclusive interpretations of identified genetic variants. We used exome sequencing for the genetic evaluation of hearing loss associated with cochlear malformations in three probands from unrelated families deafness.
View Article and Find Full Text PDFBackground: Prostatic malignancy with paraneoplastic subacute encephalitis -A rare syndrome METHOD: We present a case of 76 year old male without any previous comorbidity and addiction who manifested a rapid neuropsychiatric decline with a frontotemporal syndrome over a period of 6 months. He was anemic and cerebrospinal fluid study showed 10 cells with lymphocytic predominance. The extensive workup of csf for infection, malignancy revealed nothing.
View Article and Find Full Text PDFPolyunsaturated fatty acids suppress PIEZO ion channel mechanotransduction in articular chondrocytes.
FASEB J
January 2025
Department of Orthopaedic Surgery, Washington University School of Medicine, St. Louis, Missouri, USA.
Osteoarthritis (OA) is characterized by articular cartilage degeneration, leading to pain and loss of joint function. Recent studies have demonstrated that omega-3 (ω3) polyunsaturated fatty acid (PUFA) supplementation can decrease injury-induced OA progression in mice fed a high-fat diet. Furthermore, PUFAs have been shown to influence the mechanical properties of chondrocyte membranes, suggesting that alterations in mechanosensitive ion channel signaling could contribute to the mechanism by which ω3 PUFAs decreased OA pathogenesis.
View Article and Find Full Text PDFBiomarkers.
Alzheimers Dement
December 2024
Washington University in St. Louis, Saint Louis, MO, USA.
Background: Alzheimer disease (AD) is a chronic progressive neurodegenerative disorder that presents with cognitive dysfunction, memory loss, language difficulties, emotion dysregulation, and the eventual loss of motor function and death. Magnetic resonance imaging (MRI) shows early atrophy in the medial temporal lobes, which then spreads to the posterior temporal lobe, parietal lobe, and finally the frontal lobe with relative sparing of the sensorimotor cortex. Social disadvantage has been shown to have potentially additive impacts on aging trajectories.
View Article and Find Full Text PDFBackground: Older adults with type 2 diabetes (T2D) are more likely to develop Alzheimer's disease (AD) due to impaired brain metabolism. Although the underlying mechanisms of this relationship are largely unknown, lower levels of brain-derived neurotrophic factor (BDNF) -which promotes hippocampal neurogenesis in adulthood- and atrophy of the hippocampus are evident in patients with T2D and dementia, possibly linking the two conditions. The hippocampus is comprised of multiple subfields, each with their respective functions, cellular composition, and age-related sensitivity.
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