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
Screening newborns for developmental dysplasia of the hip: the role of sonography. [PDF]
H. Theodore Harcke
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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]
Helen Statham, J Green, Claire Snowdon
openalex +1 more source
The Morphological, Behavioral, and Transcriptomic Life Cycle of Anthrobots
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]
Won G. Ng+7 more
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GENERALIZED COST-ANALYSIS OF SCREENING PROGRAMS [PDF]
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
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
Use of phenylalanine-to-tyrosine ratio determined by tandem mass spectrometry to improve newborn screening for phenylketonuria of early discharge specimens collected in the first 24 hours [PDF]
Donald H. Chace+4 more
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The Reconstruction of Peripheral Auditory Circuit: Recent Advances and Future Challenges
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