This potentially valuable study investigates the interaction of two integral membrane proteins (Cdhr1a and Pcdh15b) and their roles in cone-rod dystrophy. Convincing evidence using loss-of-function ...

Zooming in on the pancreatic beta cell targets, the scientists shortlisted several high-confidence genes directly bound and regulated by HNF4A, including HAAO and USH1C, which have not been ...

"Our study provides the community with a comprehensive resource for investigating HNF4A and HNF1A gene targets in pancreatic beta cells and liver cells. By identifying key genes regulated by these ...

Harmonin is a key factor in the maintenance of mechanosensory function in hair cells in the ear, and it is encoded by the USH1C gene. USH1C identified as new genetic variant behind progressive hearing ...

It is essential that the diagnosis of Usher syndrome is made as early as possible to allow the parents and child to begin special educational programs to help them manage as the disease progresses ...

The full phenotypic spectrum of Usher Syndrome is reflected in a pig model carrying a patient‐specific mutation after partial humanization of the porcine USH1C gene. Retinal function in USH1C pigs was ...

Objective: To identify and report novel variants in the TMPRSS3 gene and their clinical manifestations related to hearing loss as well as intervention outcomes. This information will be helpful for ...

Usher syndrome is a genetic disorder causing neurosensory hearing loss and blindness from retinitis pigmentosa (RP). Adaptive techniques such as braille, digital and optical magnifiers, mobility ...

Hearing and balance rely on small sensory hair cells that reside in the inner ear. To explore dynamic changes in the abundant proteins present in differentiating hair cells, we used nanoliter-scale ...

Lentz's research targets the human 216A mutation in the USH1C gene that causes Type 1C Usher Syndrome in the Acadian population. “The first aim of this study is to identify and characterize an ...

Lentz's research targets the human 216A mutation in the USH1C gene that causes Type 1C Usher Syndrome in the Acadian population. "Using a well-validated Usher 1C mouse model that contains this ...