type 1B Usher syndrome

04/01/2009 - "To study retinal microstructure in Usher Syndrome type 1B (USH1B) caused by MYO7A mutations as a prelude to treatment initiatives. "
01/01/2014 - "EIAV-based retinal gene therapy in the shaker1 mouse model for usher syndrome type 1B: development of UshStat."
12/01/2003 - "Because the mutant Cdh23 phenotype was found to be similar to the previously reported retinal phenotype of Myo7a mutant mice, the orthologue of another Usher syndrome (type 1B) gene, we generated mice that carried mutations in both genes to test for genetic interaction in the retina. "

03/09/2023 - "Gene therapy of Usher syndrome type 1B (USH1B) due to mutations in the large Myosin VIIA (MYO7A) gene is limited by the packaging capacity of adeno-associated viral (AAV) vectors. "
01/01/2023 - "Myosin VIIA (MYO7A)-associated Usher syndrome type 1B (USH1B) is a severe disorder that impacts the auditory, vestibular, and visual systems of affected patients. "
07/10/2015 - "Human myosin VIIA (HM7A) is responsible for human Usher syndrome type 1B, which causes hearing and visual loss in humans. "
04/26/2011 - "Myosin VIIA, thought to be involved in human auditory function, is a gene responsible for human Usher syndrome type 1B, which causes hearing and visual loss. "
04/01/2007 - "Mutations in the myosin VIIa gene (MYO7A) cause a major subtype of Usher syndrome, type 1B. "

08/01/2023 - "Upon genetic testing, an abnormality in the Unconventional Myosin VII-A (MYO7) gene was discovered and consistent with Usher syndrome Type 1B (USH1B). "
02/01/1998 - "Myosin 7A, a gene previously implicated in Usher syndrome type 1B, was also found to be mutated in non-syndromic hearing loss. "
05/26/2009 - "Myosin VIIA is an unconventional myosin, responsible for human Usher syndrome type 1B, which causes hearing and visual loss. "
07/01/2004 - "Myosin VIIA is an unconventional myosin that has been implicated in Usher syndrome type 1B, atypical Usher syndrome, non-syndromic autosomal recessive hearing impairment (DFNB2) and autosomal dominant hearing impairment (DFNA11). "

11/01/2023 - "Usher syndrome type 1B (USH1B) is a deaf-blindness disorder, caused by mutations in the MYO7A gene, which encodes the heavy chain of an unconventional actin-based motor protein. "
12/16/2009 - "Mutations in the head and tail domains of the motor protein myosin VIIA (MYO7A) cause deaf-blindness (Usher syndrome type 1B, USH1B) and nonsyndromic deafness (DFNB2, DFNA11). "

11/01/2023 - "Expression of two major isoforms of MYO7A in the retina: Considerations for gene therapy of Usher syndrome type 1B."

08/01/2005 - "Identification of a rat model for usher syndrome type 1B by N-ethyl-N-nitrosourea mutagenesis-driven forward genetics."

08/01/2023 - "Clinical Presentation of Usher Syndrome Type 1B (USH1B) in a 10-Month-Old: A Case Report."

04/01/2007 - "Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B."