Results 211 to 220 of about 1,221,818 (402)

Long‐Lasting Auditory and Vestibular Recovery Following Gene Replacement Therapy in a Novel Usher Syndrome Type 1c Mouse Model

open access: yesAdvanced Science, EarlyView.
This study shows that gene replacement therapy using the AAV2/Anc80L65 virus can successfully restore hearing and balance in Ush1c knockout mice. The treatment leads to lasting improvements in both auditory and vestibular functions, highlighting its potential as a therapeutic approach for genetic hearing loss and vestibular disorders in humans ...
Weinan Du   +13 more
wiley   +1 more source

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

open access: yesAmerican Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 445-458, February 2023., 2023
Abstract Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1.
Clémence Jacquin   +47 more
wiley   +1 more source

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

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome

open access: yesAmerican Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 526-539, February 2023., 2023
Abstract Deletion of 17p13.3 has varying degrees of severity on brain development based on precise location and size of the deletion. The most severe phenotype is Miller–Dieker syndrome (MDS) which is characterized by lissencephaly, dysmorphic facial features, growth failure, developmental disability, and often early death.
Elizabeth K. Baker   +9 more
wiley   +1 more source

Allele [PDF]

open access: yes, 2011
openaire   +1 more source

Rational Design of Inner Ear Drug Delivery Systems

open access: yesAdvanced Science, EarlyView.
Hearing loss is a common disease affecting many people, and inner ear lesions are one of the most important causes. This review focuses on the treatment of inner ear hearing loss by drug delivery systems. It includes the current methods and technologies developed, and it predicts possible directions.
Xiayidan Maimaitikelimu   +5 more
wiley   +1 more source

Allelism

open access: yesCold Spring Harbor Symposia on Quantitative Biology, 1956
openaire   +2 more sources

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