|1.||Petit, Christine: 9 articles (09/2013 - 05/2002)|
|2.||El-Amraoui, Aziz: 7 articles (09/2013 - 05/2002)|
|3.||Wolfrum, Uwe: 5 articles (09/2013 - 05/2002)|
|4.||Williams, David S: 5 articles (10/2011 - 01/2003)|
|5.||Michel, Vincent: 4 articles (10/2012 - 02/2005)|
|6.||Hardelin, Jean-Pierre: 4 articles (10/2012 - 08/2005)|
|7.||Bahloul, Amel: 3 articles (10/2012 - 12/2002)|
|8.||Weil, Dominique: 3 articles (10/2012 - 02/2005)|
|9.||Lillo, Concepcion: 3 articles (12/2009 - 12/2004)|
|10.||Gibbs, Daniel: 3 articles (12/2009 - 05/2003)|
|1.||Usher Syndromes (Usher Syndrome)
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. "
08/01/2011 - "Mutations in the myosin VIIa gene (MYO7A) cause a common and severe subtype of Usher syndrome (USH1B). "
01/01/2010 - "Some had already been screened for mutations in the other known USH1 genes (myosin VIIA [MYO7A], cadherin-related 23 [CDH23], protocadherin-related 15 [PCDH15], and Usher syndrome 1G [USH1G]), but no mutation was found. "
09/09/2008 - "Impacts of Usher syndrome type IB mutations on human myosin VIIa motor function."
02/01/2005 - "Defects in myosin VIIa, harmonin (a PDZ domain protein), cadherin 23, protocadherin 15 and sans (a putative scaffolding protein), underlie five forms of Usher syndrome type I (USH1). "
|2.||Deafness (Deaf Mutism)
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."
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."
06/01/2009 - "Our results indicate that Arg206 and Thr381 residues in the motor head region of MYO7A protein are critical sites and the mutations of these residues may lead to the development of nonsyndromic deafness."
03/17/2006 - "Mutations of myosin VIIA cause deafness in various species from human and mice to Zebrafish and Drosophila. "
|3.||Hearing Loss (Hearing Impairment)
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)."
06/01/2009 - "Identification of novel variants in the Myosin VIIA gene of patients with nonsyndromic hearing loss from Taiwan."
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)."
02/01/2002 - "Phenotype of DFNA11: a nonsyndromic hearing loss caused by a myosin VIIA mutation."
|4.||Blindness (Hysterical Blindness)
12/16/2002 - "Deaf-blindness in three distinct genetic forms of Usher type I syndrome (USH1) is caused by defects in myosin VIIa, harmonin and cadherin 23. "
03/01/2002 - "Mutations in myosin-VIIa are responsible for the deaf-blindness, Usher disease. "
09/15/2013 - "Mutations in the myosin VIIa gene cause Usher syndrome type IB (USH1B), characterized by deaf-blindness. "
01/01/2014 - "Loss of functional myosin VIIa in the retinal pigment epithelia (RPE) and/or photoreceptors leads to blindness. "
12/15/2004 - "Myosin VIIa functions in the outer retina, and loss of this function causes human blindness in Usher syndrome type 1B (USH1B). "
|5.||Retinitis Pigmentosa (Pigmentary Retinopathy)
01/01/2000 - "Usher syndromeIb (USH1B), an autosomal recessive disorder caused by mutations in myosin VIIa (MYO7A), is characterized by congenital profound hearing loss, vestibular abnormalities and retinitis pigmentosa. "
10/01/1999 - "Usher syndromeIb (USH1B), an autosomal recessive disorder caused by mutations in myosin VIIa (MYO7A), is characterized by congenital profound hearing loss, vestibular abnormalities and retinitis pigmentosa. "
05/01/2014 - "Mutations in myosin VIIa (MYO7A) cause Usher Syndrome 1B (USH1B), a disease characterized by the combination of sensorineural hearing loss and visual impairment termed retinitis pigmentosa (RP). "
01/01/2012 - "Severe hearing impairment, unintelligible speech, and retinitis pigmentosa with varying degrees of visual acuity and visual field loss established a clinical diagnosis of Usher syndrome type I. The patients did not carry the exon 10 mutation in the PCDH15 gene; however, with microarray analysis, a previously reported mutation (c.52C>T; p.Q18X) in the myosin VIIA (MYO7A) gene was found in the homozygous state in the affected siblings. "
08/01/1997 - "In humans, a defective myosin VIIA gene is responsible for Usher syndrome type IB, which associates congenital deafness, vestibular dysfunction and retinitis pigmentosa. "
|1.||Proteins (Proteins, Gene)
|3.||type 1B Usher syndrome
|6.||Myosin Type II
|7.||Protein Isoforms (Isoforms)
|8.||Myosin Light Chains (Myosin Essential Light Chain)
|10.||Rhodopsin (Visual Purple)