Search Results - "Iwata, Fumino"

Genetic Linkage of Bietti Crystallin Corneoretinal Dystrophy to Chromosome 4q35 by Jiao, Xiaodong, Munier, Francis L., Iwata, Fumino, Hayakawa, Mutsuko, Kanai, Atsushi, Lee, June, Schorderet, Daniel F., Chen, Muh-Shy, Kaiser-Kupfer, Muriel, Hejtmancik, J. Fielding

“…Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal degeneration characterized by multiple glistening intraretinal dots…”
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Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy by ZHAOXIA REN, LIN, Pei-Yu, HEJTMANCIK, J. Fielding, KLINTWORTH, Gordon K, IWATA, Fumino, MUNIER, Francis L, SCHORDERET, Daniel F, EL MATRI, Leila, THEENDAKARA, Veena, BASTI, Surendra, REDDY, Madhukar

“…Gelatinous drop-like corneal dystrophy (GDLD) is a rare autosomal recessive disease characterized by the deposition of amyloid beneath the corneal epithelium…”
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Molecular Cloning of ELOVL4 Gene from Cynomolgus Monkey (Macaca fascicularis) by UMEDA, Shinsuke, AYYAGARI, Radha, SUZUKI, Michihiro T., ONO, Fumiko, IWATA, Fumino, FUJIKI, Keiko, KANAI, Atsushi, TAKADA, Yuichiro, YOSHIKAWA, Yasuhiro, TANAKA, Yasuhiko, IWATA, Takeshi

“…ELOVL4, elongation factor of very long chain fatty acids-4, is known to be responsible for autosomal dominant macular degeneration and Stargardt-like macular…”
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Studies on the Mechanism of Early Onset Macular Degeneration in Cynomolgus Monkeys. II. Suppression of Metallothionein Synthesis in the Retina in Oxidative Stress by NICOLAS, MARILOU G., FUJIKI, KEIKO, MURAYAMA, KIMIE, SUZUKI, MICHIHIRO T., SHINDO, NORIKO, HOTTA, YOSHIHIRO, IWATA, FUMINO, FUJIMURA, TSUTOMU, YOSHIKAWA, YASUHIRO, CHO, FUMIAKI, KANAI, ATSUSHI

“…Initial investigations done in this laboratory detected increased albumin and decreased glyceraldehyde 3-phosphate dehydrogenase concentrations in the retina…”
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Three New Mutations in a Gene Causing Hermansky–Pudlak Syndrome: Clinical Correlations by Shotelersuk, Vorasuk, Hazelwood, Senator, Larson, David, Iwata, Fumino, Kaiser-Kupfer, Muriel I., Kuehl, Ernest, Bernardini, Isa, Gahl, William A.

“…Hermansky–Pudlak syndrome (HPS) consists of oculocutaneous albinism, a platelet storage pool deficiency, and ceroid lipofuscinosis. HPS is common in northwest…”
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Nephropathic cystinosis: posterior segment manifestations and effects of cysteamine therapy by Tsilou, Ekaterini T, Rubin, Benjamin I, Reed, George, Caruso, Rafael C, Iwata, Fumino, Balog, Joan, Gahl, William A, Kaiser-Kupfer, Muriel I

“…Cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by the intracellular accumulation of cystine. Treatment involves…”
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Plus/minus screening of rabbit corneal endothelial cDNA library by Hotta, Y, Kitagawa, H, Fujiki, K, Fujimaki, T, Ohnuki, H, Sakuma, H, Iwata, F, Watanabe, M, Nakayasu, K, Kanai, A

“…Plus/minus screening of the rabbit corneal cDNA library was performed using corneal and iris RNA as probes. Thirteen clones were isolated: three ferritin…”
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Corneal Crystals in Nephropathic Cystinosis: Natural History and Treatment with Cysteamine Eyedrops by Gahl, William A., Kuehl, Ernest M., Iwata, Fumino, Lindblad, Anne, Kaiser-Kupfer, Muriel I.

“…Although renal disease is the most prominent feature of the lysosomal storage disease cystinosis, corneal cystine crystal formation remains a major…”
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Genetic Defects and Clinical Characteristics of Patients with a Form of Oculocutaneous Albinism (Hermansky–Pudlak Syndrome) by Gahl, William A, Brantly, Mark, Kaiser-Kupfer, Muriel I, Iwata, Fumino, Hazelwood, Senator, Shotelersuk, Vorasuk, Duffy, Lynn F, Kuehl, Ernest M, Troendle, James, Bernardini, Isa

“…Hermansky–Pudlak syndrome, an autosomal recessive disorder, consists of oculocutaneous albinism, a storage-pool deficiency, and lysosomal accumulation of…”
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Bietti Crystalline Corneoretinal Dystrophy Is Caused by Mutations in the Novel Gene CYP4V2 by Li, Anren, Jiao, Xiaodong, Munier, Francis L., Schorderet, Daniel F., Yao, Wenliang, Iwata, Fumino, Hayakawa, Mutsuko, Kanai, Atsushi, Shy Chen, Muh, Alan Lewis, Richard, Heckenlively, John, Weleber, Richard G., Traboulsi, Elias I., Zhang, Qingjiong, Xiao, Xueshan, Kaiser-Kupfer, Muriel, Sergeev, Yuri V., Hejtmancik, J. Fielding

“…Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal dystrophy characterized by multiple glistening intraretinal crystals…”
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A case of juvenile retinoschisis diagnosed by analysis of the XLRS 1 gene by Taketani, R, Yokoyama, T, Hotta, Y, Iwata, F, Yazawa, K, Fujiki, K, Kanai, A

“…We report on a 3 year-old boy who was first diagnosed with retinal detachment and macular hole and received surgical treatment. X-linked juvenile retinoschisis…”
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Usher syndrome clinical types I and II: Could ocular symptoms and signs differentiate between the two types? by Tsilou, Ekaterini T., Rubin, Benjamin I., Caruso, Rafael C., Reed, George F., Pikus, Anita, Hejtmancik, James F., Iwata, Fumino, Redman, Joy B., Kaiser‐Kupfer, Muriel I.

“…Purpose:  Usher syndrome types I and II are clinical syndromes with substantial genetic and clinical heterogeneity. We undertook the current study in order to…”
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Ocular nonnephropathic cystinosis : Clinical, biochemical, and molecular correlations by ANIKSTER, Y, LUCERO, C, THOENE, J, SCHNEIDER, J. A, GAHL, W. A, JUANRU GUO, HUIZING, M, SHOTELERSUK, V, BERNARDINI, I, MCDOWELL, G, IWATA, F, KAISER-KUPFER, M. I, JAFFE, R

“…Ocular nonnephropathic cystinosis, a variant of the classic nephropathic type of cystinosis, is an autosomal recessive lysosomal storage disorder characterized…”
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Age-Related Prevalence of Anterior Segment Complications in Patients With Infantile Nephropathic Cystinosis by Tsilou, Ekaterini T, Rubin, Benjamin I, Reed, George F, Iwata, Fumino, Gahl, William, Kaiser-Kupfer, Muriel I

“…PURPOSE.As a result of successful renal transplantation, patients with nephropathic cystinosis are now living into adulthood. As these patients age, anterior…”
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Evidence for Locus Heterogeneity in Puerto Ricans with Hermansky-Pudlak Syndrome by Hazelwood, Senator, Shotelersuk, Vorasuk, Wildenberg, Scott C., Chen, David, Iwata, Fumino, Kaiser-Kupfer, Muriel I., White, James G., King, Richard A., Gahl, William A.

“…Hermansky-Pudlak syndrome (HPS) consists of oculocutaneous albinism, a platelet storage-pool deficiency, and ceroid lipofuscinosis. In a recent report on the…”
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Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism by Iwata, F, Reed, G F, Caruso, R C, Kuehl, E M, Gahl, W A, Kaiser-Kupfer, M I

“…Patients with the Hermansky-Pudlak syndrome (HPS), a form of albinism, were studied. The first purpose of this investigation was to determine if visual acuity…”
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A Randomized Clinical Trial of Topical Cysteamine Disulfide (Cystamine) versus Free Thiol (Cysteamine) in the Treatment of Corneal Cystine Crystals in Cystinosis by Iwata, Fumino, Kuehl, Ernest M., Reed, George F., McCain, Lessie M., Gahl, William A., Kaiser-Kupfer, Muriel I.

“…In nephropathic cystinosis, corneal cystine crystals cause severe photophobia and corneal erosions. Topical cysteamine dissolves these crystals, but cannot be…”
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Novel mutations in the XLRS1 gene may be caused by early Okazaki fragment sequence replacement by Rodriguez, IR, Mazuruk, K, Jaworski, C, Iwata, F, Moreira, EF, Kaiser-Kupfer, MI

“…To determine whether two families diagnosed with X-linked retinoschisis contained mutations in the XLRS1 gene. DNA from the patients was obtained from blood…”
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Ocular manifestations of metabolic disorders by Iwata, F, Kaiser-Kupfer, M I

“…Articles published during the past year on the ocular manifestations of metabolic disorders and related issues are reviewed. Fewer articles on this topic were…”
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Association of Thyroid Disease With Retinitis Pigmentosa and Gyrate Atrophy by Whitcup, Scott M., Iwata, Furaino, Podgor, Marvin J., Valle, David, Sran, Puspha K., Kaiser-Kupfer, Muriel I.

“…To compare the prevalence of thyroid disease in patients with retinitis pigmentosa, in patients with gyrate atrophy of the choroid and retina, and in patients…”
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