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Retinal disease course in Usher syndrome 1B due to MYO7A mutations.
Jacobson SG, Cideciyan AV, Gibbs D, Sumaroka A, Roman AJ, Aleman TS, Schwartz SB, Olivares MB, Russell RC, Steinberg JD, Kenna MA, Kimberling WJ, Rehm HL, Williams DS. Jacobson SG, et al. Invest Ophthalmol Vis Sci. 2011 Oct 7;52(11):7924-36. doi: 10.1167/iovs.11-8313. Invest Ophthalmol Vis Sci. 2011. PMID: 21873662 Free PMC article.
PURPOSE. To determine the disease course in Usher syndrome type IB (USH1B) caused by myosin 7A (MYO7A) gene mutations. ...Rod-mediated vision could be lost to different degrees in the first decades of life. Cone vision followed a more predictable and slower decline. …
PURPOSE. To determine the disease course in Usher syndrome type IB (USH1B) caused by myosin 7A (MYO7A) gene mutations. ...Rod-mediate …
Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C.
Boulouiz R, Li Y, Abidi O, Bolz H, Chafik A, Kubisch C, Roub H, Wollnik B, Barakat A. Boulouiz R, et al. Mol Vis. 2007 Oct 2;13:1862-5. Mol Vis. 2007. PMID: 17960123
In addition, we found the homozygous c.1687G>A mutation in the last nucleotide of exon 14, which is predicted to result in aberrant splicing and may lead to loss of MYO7A transcript. ...
In addition, we found the homozygous c.1687G>A mutation in the last nucleotide of exon 14, which is predicted to result in aberran …
Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.
Bakhchane A, Charif M, Bousfiha A, Boulouiz R, Nahili H, Rouba H, Charoute H, Lenaers G, Barakat A. Bakhchane A, et al. PLoS One. 2017 May 4;12(5):e0176516. doi: 10.1371/journal.pone.0176516. eCollection 2017. PLoS One. 2017. PMID: 28472130 Free PMC article.
Five mutations (c.6025delG, c.6229T>A, c.3500T>A, c.5617C>T and c.4487C>A) were identified in these families, the latter presenting two differently affected branches. Multiple bioinformatics programs and molecular modelling predicted the pathogenic effect of th …
Five mutations (c.6025delG, c.6229T>A, c.3500T>A, c.5617C>T and c.4487C>A) were identified in these families, the latter present …
Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations.
Jacobson SG, Aleman TS, Sumaroka A, Cideciyan AV, Roman AJ, Windsor EA, Schwartz SB, Rehm HL, Kimberling WJ. Jacobson SG, et al. Invest Ophthalmol Vis Sci. 2009 Apr;50(4):1886-94. doi: 10.1167/iovs.08-3122. Epub 2008 Dec 13. Invest Ophthalmol Vis Sci. 2009. PMID: 19074810
The earliest detectable structural markers of disease may represent Muller glial cell response to photoreceptor stress and apoptosis. Visual losses were predictably related to a decline in ONL thickness. The prospect of focal treatment of MYO7A-USH1B, such as subretinal ge …
The earliest detectable structural markers of disease may represent Muller glial cell response to photoreceptor stress and apoptosis. Visual …
Mutational data integration in gene-oriented files of the Hermansky-Pudlak Syndrome database.
Li W, He M, Zhou H, Bourne JW, Liang P. Li W, et al. Hum Mutat. 2006 May;27(5):402-7. doi: 10.1002/humu.20309. Hum Mutat. 2006. PMID: 16550546
This HPS database (HPSD; http://liweilab.genetics.ac.cn/HPSD/) provides integrated, annotatory, and curative data that is distributed in a variety of public databases or predicted by bioinformatics servers for the recently cloned human and mouse HPS genes, as well as for t …
This HPS database (HPSD; http://liweilab.genetics.ac.cn/HPSD/) provides integrated, annotatory, and curative data that is distributed in a v …
Effects of shaker-1 mutations on myosin-VIIa protein and mRNA expression.
Hasson T, Walsh J, Cable J, Mooseker MS, Brown SD, Steel KP. Hasson T, et al. Cell Motil Cytoskeleton. 1997;37(2):127-38. doi: 10.1002/(SICI)1097-0169(1997)37:2<127::AID-CM5>3.0.CO;2-5. Cell Motil Cytoskeleton. 1997. PMID: 9186010
For the three alleles of sh1 that have been characterized and that have mutations in the motor domain, sh1 [original], sh1(816SB) and sh1(6J), the level of protein expression observed in these sh1 alleles correlated well with the predicted effects of the mutations on motor …
For the three alleles of sh1 that have been characterized and that have mutations in the motor domain, sh1 [original], sh1(816SB) and sh1(6J …
Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).
Luijendijk MW, Van Wijk E, Bischoff AM, Krieger E, Huygen PL, Pennings RJ, Brunner HG, Cremers CW, Cremers FP, Kremer H. Luijendijk MW, et al. Hum Genet. 2004 Jul;115(2):149-56. doi: 10.1007/s00439-004-1137-3. Epub 2004 Jun 2. Hum Genet. 2004. PMID: 15221449
One variant, a c.1373A-->T transversion that is heterozygously present in all affected family members and absent in 300 healthy individuals, is predicted to result in an Asn458Ile amino acid substitution. Asn458 is located in a region of the myosin VIIA motor domain tha …
One variant, a c.1373A-->T transversion that is heterozygously present in all affected family members and absent in 300 healthy individua …
Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report.
Wang H, Wan Y, Yang Y, Li H, Mao L, Gao S, Xu J, Wang J. Wang H, et al. BMC Med Genet. 2019 Jul 25;20(1):130. doi: 10.1186/s12881-019-0850-7. BMC Med Genet. 2019. PMID: 31345173 Free PMC article.
Meanwhile, a previously reported heterozygous mutation (c.4805G > A) in MYO7 gene related with Usher syndrome type 1B was found. The online tools SIFT, PolyPhen-2, and Mutation Taster predicted variant c.1865 T > C was probably damaging. The residue p.Leu622 was in a …
Meanwhile, a previously reported heterozygous mutation (c.4805G > A) in MYO7 gene related with Usher syndrome type 1B was found. The onli …