Search Results - "Yamade, Shinichi"
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Unique haplotype in exon 3 of cone opsin mRNA affects splicing of its precursor, leading to congenital color vision defect
Published in Biochemical and biophysical research communications (20-07-2012)“…► We found two men with protanopia defect having an apparently normal L gene. ► The L gene yielded only L opsin mRNA lacking exon 3 in transfection…”
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A new subset of deutan colour vision defect associated with an L/M visual pigment gene array of normal order and -71C substitution in the Japanese population
Published in Journal of biochemistry (Tokyo) (01-09-2015)“…In 524 Japanese individuals with deutan colour vision defect, 76 had a normal-order pigment gene array, where the L gene is at the first position and the M…”
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Functional analysis of rod monochromacy-associated missense mutations in the CNGA3 subunit of the cone photoreceptor cGMP-gated channel
Published in Biochemical and biophysical research communications (12-10-2007)“…Thirty-nine missense mutations, which had been identified in rod monochromacy or related disorders, in the CNGA3 subunit of cone photoreceptor cGMP-gated…”
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Analysis of introns and promoters of L M visual pigment genes in relation to deutan color-vision deficiency with an array of normal gene orders
Published in Journal of human genetics (01-09-2009)“…Among the 447 Japanese men with deutan color-vision deficiency that we analyzed, 61 had a normal order array of L/M pigment genes. Three of the 61 men had an…”
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5
Protan color vision deficiency with a unique order of green-red as the first two genes of a visual pigment array
Published in Journal of human genetics (01-08-2006)“…Normal visual pigment gene arrays on the human X chromosome have a red gene at the first and a green gene at the second positions. More than half of the arrays…”
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Functional Role of hCNGB3 in Regulation of Human Cone CNG Channel: Effect of Rod Monochromacy-Associated Mutations in hCNGB3 on Channel Function
Published in Investigative ophthalmology & visual science (01-07-2004)“…The human cone photoreceptor cyclic nucleotide-gated (CNG) channel comprises alpha- and beta-subunits, which are respectively encoded by hCNGA3 and hCNGB3. The…”
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7
An A-71C Substitution in a Green Gene at the Second Position in the Red/Green Visual-Pigment Gene Array Is Associated with Deutan Color-Vision Deficiency
Published in Proceedings of the National Academy of Sciences - PNAS (18-03-2003)“…We studied 247 Japanese males with congenital deutan color-vision deficiency and found that 37 subjects (15.0%) had a normal genotype of a single red gene…”
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An insertion/deletion TEX28 polymorphism and its application to analysis of red/green visual pigment gene arrays
Published in Journal of human genetics (01-10-2004)“…TEX28 gene (fTEX) is present immediately downstream of the red/green visual pigment gene array on the human X chromosome. Its pseudogene (pTEX) that lacks exon…”
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Number and variations of the red and green visual pigment genes in Japanese men with normal color vision
Published in Japanese journal of ophthalmology (01-01-2001)“…We analyzed the red/green visual pigment genes in color-normal Japanese men to understand the relationship between color anomalies and genetic defects. DNA…”
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Novel mutations in the L visual pigment gene found in Japanese men with protan color-vision defect having a normal order L/M gene array
Published in Ophthalmic genetics (01-10-2016)Get full text
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Magnetic resonance imaging measurements of extraocular muscle path shift and posterior eyeball prolapse from the muscle cone in acquired esotropia with high myopia
Published in American journal of ophthalmology (01-09-2003)“…To investigate extraocular muscle (EOM) path shift and prolapse of posterior eyeball from muscle cone in acquired esotropia with high myopia (AEHM), using…”
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Analysis of L-cone/M-cone visual pigment gene arrays in females by long-range PCR
Published in Vision research (Oxford) (01-03-2003)“…The L-cone/M-cone visual pigment gene arrays were analyzed in a group of 63 Japanese females consisting of 7 applicants for examination of their carrier…”
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Analysis of L-cone/M-cone visual pigment gene arrays in Japanese males with protan color-vision deficiency
Published in Vision research (Oxford) (01-01-2004)“…The L-cone/M-cone visual pigment gene arrays were analyzed in 125 Japanese males with protan color-vision deficiency. Arrays were successfully determined in…”
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Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies
Published in Biochemical and biophysical research communications (07-06-2002)“…The DNAs from 217 Japanese males with congenital red/green color-vision deficiencies were analyzed. Twenty-three subjects had the normal genotype of a single…”
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Red-green pigment gene analysis as a clinical diagnostic tool
Published in Color research and application (2001)“…Recent advancements in molecular biology have revealed genetic aspects of congenital color vision deficiencies (CVD). In many cases of CVD, the genotypes and…”
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Detection of female carriers of congenital color-vision deficiencies by visual pigment gene analysis
Published in Current eye research (01-01-2000)“…Purpose. Congenital color-vision deficiencies are frequent among males, 4.7-8.0%, suggesting that female carriers are present at a frequency of 9-15%. The…”
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The importance of gene order in expression of the red and green visual pigment genes and in color vision
Published in Color research and application (2001)“…Deuteranomaly, and to a lesser extent deuteranopia, are associated with a 5′ green‐red 3′ (G‐R) visual pigment hybrid gene. Such G‐R hybrid genes may also…”
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Temporal integration in diseased eyes
Published in International ophthalmology (1996)“…We examined critical duration for visual acuity in eyes with central serous retinopathy (CSR), macular edema (ME) and glaucoma. Critical duration for visual…”
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Number and arrangement of the red and green visual pigment genes in color-normal Japanese males
Published in Color research and application (2001)“…Red and green visual pigment genes were analyzed in color‐normal Japanese males. DNA from 121 males was subjected to PCR‐amplification for the promoter and…”
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The Stiles-Crawford effect of the first kind (SCE I): studies of SCE I in an aniridic observer
Published in Perception (London) (1986)“…The Stiles-Crawford effect of the first kind (SCE I), discovered in 1933, represented a major breakthrough in our understanding of retinal physiology and the…”
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