Results 121 to 130 of about 66,419 (330)

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio   +13 more
wiley   +1 more source

AAV8BP2 and AAV8 transduce the mammalian cochlear lateral wall and endolymphatic sac with high efficiency

open access: yesMolecular Therapy: Methods & Clinical Development, 2022
Inner ear gene therapy using adeno-associated viruses (AAVs) has been successfully applied to several mouse models of hereditary hearing loss to improve their auditory function. While most inner ear gene therapy studies have focused on the mechanosensory
Kevin Isgrig   +8 more
doaj  

Transcriptomic and epigenetic regulation of hair cell regeneration in the mouse utricle and its potentiation by Atoh1

open access: yeseLife, 2019
The mammalian cochlea loses its ability to regenerate new hair cells prior to the onset of hearing. In contrast, the adult vestibular system can produce new hair cells in response to damage, or by reprogramming of supporting cells with the hair cell ...
Hsin-I Jen   +11 more
doaj   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone   +13 more
wiley   +1 more source

Early synapsids neurosensory diversity revealed by CT and synchrotron scanning

open access: yesThe Anatomical Record, EarlyView.
Abstract Non‐mammaliaform synapsids (NMS) represent the closest relatives of today's mammals among the early amniotes. Exploring their brain and nervous system is key to understanding how mammals evolved. Here, using CT and Synchrotron scanning, we document for the first time three extreme cases of neurosensory and behavioral adaptations that probe ...
J. Benoit   +6 more
wiley   +1 more source

Predicting ecology and hearing sensitivities in Parapontoporia—An extinct long‐snouted dolphin

open access: yesThe Anatomical Record, EarlyView.
Abstract Analyses of the cetacean (whale and dolphin) inner ear provide glimpses into the ecology and evolution of extinct and extant groups. The paleoecology of the long‐snouted odontocete (toothed whale) group, Parapontoporia, is primarily marine with its depositional context also suggesting freshwater tolerance.
Joyce Sanks, Rachel Racicot
wiley   +1 more source

Home - About - Disclaimer - Privacy