Myosin VIIa

06/01/2023 - "This study investigated the new splice site mutations of Myosin VIIA (MYO7A) in patients with Usher syndrome type 1 (USH1) from a three-generation Chinese consanguineous family. "
06/01/1998 - "In the current study, 12 Spanish families affected by type-I Usher syndrome, that was previously linked to chromosome 11q, were screened for the presence of mutations in the N-terminal coding portion of the motor domain of the myosin VIIA gene by single-strand conformation polymorphism analysis of the first 14 exons. "
08/16/2011 - "Mutations in the myosin VIIa gene (MYO7A) cause a common and severe subtype of Usher syndrome (USH1B). "
01/01/2003 - "Screen for usher syndrome 1B mutations in the ovine myosin VIIa gene."
07/01/2002 - "Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively."

09/01/2000 - "Thus, this study demonstrates the striking conservation of the function of Myosin VIIA throughout vertebrate evolution and establishes mariner as the first fish model for human hereditary deafness."
03/29/2022 - "Fourteen variants causing autosomal dominant deafness were clustered in motor and MyTH4 domains of MYO7A protein. "
01/01/2016 - "One example is Myo7a (myosin VIIA), in which deafness mutations affect the development and function of the mechanically sensitive stereocilia of hair cells. "
08/25/2014 - "Unconventional myosin VIIA (Myo7a) has been known to associate with hereditary deafness. "
06/01/2012 - "Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes."

05/01/2016 - "These data indicate that mild maternal IDA in guinea pigs induced hearing impairment in offsprings, and this deficit may be attributed to the reduction of ribbon synapse density and dysregulation of VGLUT3, myosin VIIa, and prestin. "
09/22/2000 - "In humans and mice, mutations in the myosin VIIA gene underlie hereditary hearing loss, which may or may not be associated with visual deficiency. "
12/29/1997 - "This will provide insights into the biochemical function of the gene product in normal cochlear tissue, and will show why the genetic mutation results in hearing loss, that is, the recent identification of the myosin VIIa gene in Usher type IB. "
01/01/2013 - "Identification and functional study of a new missense mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11)."
01/01/2021 - "MYO7A gene encodes unconventional myosin VIIA, which, when mutated, causes a phenotypic spectrum ranging from recessive hearing loss DFNB2 to deaf-blindness, Usher Type 1B (USH1B). "

09/01/2008 - "In search of the DFNA11 myosin VIIA low- and mid-frequency auditory genetic modifier."
04/01/2006 - "Even though the diverse mutations are located in different regions of the myosin VIIa gene, the cochleovestibular phenotype is fairly similar in all DFNA11 families. "
01/01/2013 - "Identification and functional study of a new missense mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11)."
01/01/2006 - "Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11)."
07/01/2004 - "Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11)."

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. "