Results 161 to 170 of about 1,922,511 (410)

Single Administration of AAV‐mAtp6v1b2 Gene Therapy Rescues Hearing and Vestibular Disorders Caused by Atp6v1b2‐Induced Lysosomal Dysfunction in Hair Cells

open access: yesAdvanced Science, EarlyView.
Wei et al. establish a hair cell‐specific conditional knockout mouse model (Atp6v1b2fl/fl;Atoh1Cre/+), and demonstrate the importance of Atp6v1b2 for hair cell through maintaining the survival of lysosomes. A single administration of AAV‐ie‐Eh3‐mAtp6v1b2 through scala media at P0‐P2 realizes function compensation and restores hearing and balance ...
Gege Wei   +15 more
wiley   +1 more source

GDC: Integration of Multi‐Omic and Phenotypic Resources to Unravel the Genetic Pathogenesis of Hearing Loss

open access: yesAdvanced Science, EarlyView.
Overview of the Genetic Deafness Commons (GDC), integrating data from the Chinese Deafness Genetics Consortium (CDGC) and 51 public databases. The GDC provides tools for variant search, functional predictions, and gene‐disease visualization, offering insights into 201 hearing loss genes and facilitating novel gene discovery and clinical applications ...
Hui Cheng   +11 more
wiley   +1 more source

Mothers' consent to screening newborn babies for disease. [PDF]

open access: green, 1993
Helen Statham, J Green, Claire Snowdon
openalex   +1 more source

The Morphological, Behavioral, and Transcriptomic Life Cycle of Anthrobots

open access: yesAdvanced Science, EarlyView.
DNA is thought to determine shape, behavior, and lifespan, with developmental plasticity reserved for stem cells, embryos, and species like amphibia. How much morphogenetic plasticity do adult somatic human cells exhibit? Anthrobots are a self‐organizing, motile synthetic living construct made of genetically normal human epithelial cells.
Gizem Gumuskaya   +6 more
wiley   +1 more source

Erythrocyte uridine diphosphate galactose-4-epimerase deficiency identified by newborn screening for galactosemia in the United States [PDF]

open access: green, 1993
Won G. Ng   +7 more
openalex   +1 more source

GENERALIZED COST-ANALYSIS OF SCREENING PROGRAMS [PDF]

open access: yes
Nowadays, there is a growing interest about including indirect costs of health care programs in economic evaluations. In this paper, we provide a generalized cost-analysis of screening programs and propose a technique to measure production gains ...
Carmen Herrero Blanco   +1 more
core  

Presbycusis: Pathology, Signal Pathways, and Therapeutic Strategy

open access: yesAdvanced Science, EarlyView.
In ARHL, the stria vascularis, acting as a cochlear battery, gradually loses its ability to maintain the endocochlear potential, leading to impaired hair cell function and progressive hearing loss. Single‐cell sequencing reveals age‐related cellular changes in the cochlea, providing insights into the underlying mechanisms of aging and potential ...
Xiaoxu Zhao   +12 more
wiley   +1 more source

The Reconstruction of Peripheral Auditory Circuit: Recent Advances and Future Challenges

open access: yesAdvanced Science, EarlyView.
This paper summarizes the potential of biomaterials, stem cells, and gene editing technologies in the regeneration of inner ear hair cells, spiral ganglion neurons, and inner ear organoids. Challenges and potential developments are discussed and explored.
Zhe Li   +3 more
wiley   +1 more source

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