Results 71 to 80 of about 311,557 (292)

Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease

EMBO Molecular Medicine, 2023
Deafness affects 5% of the world's population, yet there is a lack of treatments to prevent hearing loss due to genetic causes. Norrie disease is a recessive X‐linked disorder, caused by NDP gene mutation.
Valda Pauzuolyte, Aara Patel, James R Wawrzynski, Neil J Ingham, Yeh Chwan Leong, Rajvinder Karda, Maria Bitner‐Glindzicz, Wolfgang Berger, Simon N Waddington, Karen P Steel, Jane C Sowden   +10 more
doaj   +1 more source

Crosstalk between the ribosome quality control‐associated E3 ubiquitin ligases LTN1 and RNF10

FEBS Letters, EarlyView.
Loss of the E3 ligase LTN1, the ubiquitin‐like modifier UFM1, or the deubiquitinating enzyme UFSP2 disrupts endoplasmic reticulum–ribosome quality control (ER‐RQC), a pathway that removes stalled ribosomes and faulty proteins. This disruption may trigger a compensatory response to ER‐RQC defects, including increased expression of the E3 ligase RNF10 ...
Yuxi Huang, Satoshi Hashimoto, Sota Ito, Chisato Kikuguchi, Miho Hoshi, Kiyoshi Yamaguchi, Yoichi Furukawa, Toru Suzuki, Toshifumi Inada   +8 more
wiley   +1 more source

Audiological phenotype of siblings with dual sensory impairment caused by SLITRK6 mutation—case report

The Egyptian Journal of Otolaryngology
Background Dual sensory impairment (DSI), defined as concomitant hearing and vision loss, is a rare but clinically significant condition. While genetic factors account for the majority of congenital sensory impairments, dual impairment syndromes are less
Swapna Sebastian, Paul Jasper, Manju Deena Mammen, Ann Mary Augustine   +3 more
doaj   +1 more source

Semantic Compression of Episodic Memories [PDF]

, 2018
Storing knowledge of an agent's environment in the form of a probabilistic generative model has been established as a crucial ingredient in a multitude of cognitive tasks. Perception has been formalised as probabilistic inference over the state of latent
Nagy, David G., Orbán, Gergő, Török, Balázs   +2 more
core   +2 more sources

Interplay between circadian and other transcription factors—Implications for cycling transcriptome reprogramming

FEBS Letters, EarlyView.
This perspective highlights emerging insights into how the circadian transcription factor CLOCK:BMAL1 regulates chromatin architecture, cooperates with other transcription factors, and coordinates enhancer dynamics. We propose an updated framework for how circadian transcription factors operate within dynamic and multifactorial chromatin landscapes ...
Xinyu Y. Nie, Jerome S. Menet
wiley   +1 more source

Underwater Image Enhancement Based on Generative Adversarial Networks

Shanghai Jiaotong Daxue xuebao, 2022
This paper proposes an underwater image correction and enhancement algorithm based on generative adversarial networks. In this algorithm, the multi-scale kernel is applied to the improved residual module to construct a generator, which realizes the ...
LI Yu, YANG Daoyong, LIU Lingya, WANG Yiyin
doaj   +1 more source

The role of histone modifications in transcription regulation upon DNA damage

FEBS Letters, EarlyView.
This review discusses the critical role of histone modifications in regulating gene expression during the DNA damage response (DDR). By modulating chromatin structure and recruiting repair factors, these post‐translational modifications fine‐tune transcriptional programmes to maintain genomic stability.
Angelina Job Kolady, Siyao Wang
wiley   +1 more source

Impact of dual sensory impairment on cognition in older Chinese adults: a moderated chain-mediated effect

Frontiers in Public Health
ObjectiveAlthough sensory impairment has been identified as a risk factor for cognitive decline, little is known about the underlying mechanisms that connect dual sensory impairment to cognitive ability.
Qingyun Mao, Qingyun Mao, Heting Liang, Xiaoli Yuan, Zhixia Jiang, Rujun Hu, Yumeng Zhang, Shuang Li, Xiaoling Yang   +8 more
doaj   +1 more source

EXAMINING QUALITY INDICATOR RATES FOR OLDER HOME CARE CLIENTS WITH DUAL SENSORY IMPAIRMENT (DSI) AND EXPLORING THE HETEROGENEITY WITHIN DSI. [PDF]

, 2016
Older adults with impairments in both hearing and vision, called dual sensory impairment (DSI), are at an increased risk of negative health outcomes such as impaired communication and difficulties with mobility.
Davidson, Jacob G S, Guthrie, Dawn M.
core   +1 more source

Mechanisms of parasite‐mediated disruption of brain vessels

FEBS Letters, EarlyView.
Parasites can affect the blood vessels of the brain, often causing serious neurological problems. This review explains how different parasites interact with and disrupt these vessels, what this means for brain health, and why these processes matter. Understanding these mechanisms may help us develop better ways to prevent or treat brain infections in ...
Leonor Loira, Sílvia Arroz‐Madeira, Cláudio A. Franco, Sara Silva Pereira   +3 more
wiley   +1 more source