Type Ib Usher Syndrome

09/09/2008 - "Impacts of Usher syndrome type IB mutations on human myosin VIIa motor function."
08/19/1999 - "Three new mutations in the myosin VIIA gene involved in the pathogenesis of Usher syndrome type Ib are reported. "
01/01/1999 - "Three new mutations in the myosin VIIA gene involved in the pathogenesis of Usher syndrome type Ib are reported. "
12/01/1998 - "Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib."
06/01/1998 - "Ala397Asp mutation of myosin VIIA gene segregating in a Spanish family with type-Ib Usher syndrome."

01/01/2016 - "The mono-ubiquitination of Myosin II promotes its physical interaction with Myosin VIIa, a protein responsible for Usher syndrome type IB. "

01/01/2016 - "The mono-ubiquitination of Myosin II promotes its physical interaction with Myosin VIIa, a protein responsible for Usher syndrome type IB. "

10/07/2011 - "To determine the disease course in Usher syndrome type IB (USH1B) caused by myosin 7A (MYO7A) gene mutations. "

01/01/2000 - "Normal hearing in mammals has been shown to require functional myosin VI (Avraham et al., 1995) and myosin VIIA (Gibson et al., 1995; Liu et al., 1997), and the combined blindness and deafness of Usher syndrome type IB has been shown to be produced by specific defects in myosin VIIA (Weil et al., 1997). "

01/01/2014 - "However, AAV's limited cargo capacity prevents its application to therapies of inherited retinal diseases due to mutations of genes over 5 kb, like Stargardt's disease (STGD) and Usher syndrome type IB (USH1B). "