Results 111 to 120 of about 777,793 (338)

Exome Sequencing Reveals the Genetic Architecture of Non‐syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene

open access: yesAdvanced Science, EarlyView.
Nonsyndromic orofacial clefts (NSOFCs) are the most common craniofacial defects. Exome sequencing of 214 sporadic cases sheds new light on its genetic architecture and identifies many candidate pathogenic variants. Furthermore, functional studies establish BOC as a novel causal gene and reveal an unusual two‐locus model of inheritance via the epistatic
Qing He   +16 more
wiley   +1 more source

Post‐Translational Modifications in Cilia and Ciliopathies

open access: yesAdvanced Science, EarlyView.
This review synthesizes current understanding of post‐translational modifications (PTMs) in ciliary proteins and emphasizes their roles in ciliary formation, homeostasis, and signaling. This review also discusses the implication of PTM dysregulation in ciliopathies and explores therapeutic strategies targeting PTM‐modifying enzymes.
Jie Ran, Jun Zhou
wiley   +1 more source

Nucleotides as an Anti‐Aging Supplementation in Older Adults: A Randomized Controlled Trial (TALENTs study)

open access: yesAdvanced Science, EarlyView.
The TALENTs randomized controlled trial evaluates the potential of nucleotides supplementation as an anti‐aging intervention in older adults. After 19 weeks, nucleotides supplementation significantly reduces DNA methylation age, suggesting a delay in epigenetic aging, and improves insulin sensitivity without severe adverse events.
Shuyue Wang   +9 more
wiley   +1 more source

Interference Pattern Caused by Bilateral Bone Conduction Stimulation Impairs Sound Localization

open access: yesAdvanced Science, EarlyView.
This work explores how crosstalk‐induced wave interference affects bone conduction (BC) sound localization. Using a theoretical model, cadaveric vibrometry, and psychoacoustic tests, atypical BC lateralization patterns are revealed that contradict air conduction (AC) principles.
Liu‐Jie Ren   +7 more
wiley   +1 more source

Inhibition of Phosphodiesterase 10A by MP‐10 Rescues Behavioral Deficits and Normalizes Microglial Morphology and Synaptic Pruning in A Mouse Model of FOXP1 Syndrome

open access: yesAdvanced Science, EarlyView.
We demonstrate that Foxp1± mice, modeling FOXP1 haploinsufficiency, exhibit behavioral deficits, striatal neuroinflammatory changes including altered microglial complexity and synaptic pruning, and markedly reduced Pde10a expression. Pde10a inhibition starting immediately after birth restores Foxp1± behavior, microglial morphology, and pruning ...
Henning Fröhlich   +8 more
wiley   +1 more source

Outcomes of Cochlear Implantation in Patients with Far-Advanced Otosclerosis Who Had Previously Undergone Stapes Surgery

open access: yesJournal of International Advanced Otology
BACKGROUND: The aim was to assess the hearing outcomes in cochlear implant patients with far-advanced otosclerosis who had previously undergone stapes surgery. METHODS: We studied 17 implanted patients with far-advanced otosclerosis who had previously
Piotr H. Skarzynski   +7 more
doaj   +1 more source

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