Search Results - "Allikmets, Rando"

The human ATP‐binding cassette (ABC) transporter superfamily by Dean, Michael, Moitra, Karobi, Allikmets, Rando

“…The ATP‐binding cassette (ABC) transporter superfamily comprises membrane proteins that efflux various substrates across extra‐ and intracellular membranes…”
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Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations by Cremers, Frans P.M., Lee, Winston, Collin, Rob W.J., Allikmets, Rando

“…The ABCA4 protein (then called a “rim protein”) was first identified in 1978 in the rims and incisures of rod photoreceptors. The corresponding gene, ABCA4,…”
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Re: Agrón et al.: Reticular pseudodrusen status, ARMS2/HTRA1 genotype, and geographic atrophy enlargement: Age-Related Eye Disease Study 2 Report 32. (Ophthalmology. 2022;129:1107–1119) by Bhuiyan, Alauddin, Souied, Eric, Allikmets, Rando L., Smith, R. Theodore

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Photoreceptor cells as a source of fundus autofluorescence in recessive Stargardt disease by Paavo, Maarjaliis, Lee, Winston, Allikmets, Rando, Tsang, Stephen, Sparrow, Janet R.

“…Bisretinoid fluorophores form in photoreceptor outer segments from nonenzymatic reactions of vitamin A aldehyde. The short‐wavelength autofluorescence (SW‐AF)…”
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Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease by Fujinami, Kaoru, MD, Zernant, Jana, MS, Chana, Ravinder K., BSc, Wright, Genevieve A., BSc, Tsunoda, Kazushige, MD, PhD, Ozawa, Yoko, MD, PhD, Tsubota, Kazuo, MD, PhD, Robson, Anthony G., PhD, Holder, Graham E., PhD, Allikmets, Rando, PhD, Michaelides, Michel, MD, FRCOphth, Moore, Anthony T., FRCS, FRCOphth

“…Purpose To describe the clinical and molecular characteristics of patients with childhood-onset Stargardt disease (STGD). Design Retrospective case series…”
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Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy by Gantner, Marin L, Eade, Kevin, Wallace, Martina, Handzlik, Michal K, Fallon, Regis, Trombley, Jennifer, Bonelli, Roberto, Giles, Sarah, Harkins-Perry, Sarah, Heeren, Tjebo F.C, Sauer, Lydia, Ideguchi, Yoichiro, Baldini, Michelle, Scheppke, Lea, Dorrell, Michael I, Kitano, Maki, Hart, Barbara J, Cai, Carolyn, Nagasaki, Takayuki, Badur, Mehmet G, Okada, Mali, Woods, Sasha M, Egan, Catherine, Gillies, Mark, Guymer, Robyn, Eichler, Florian, Bahlo, Melanie, Fruttiger, Marcus, Allikmets, Rando, Bernstein, Paul S, Metallo, Christian M, Friedlander, Martin

“…Macular telangiectasia is an etiologically complex phenotype. This study used a combination of approaches to identify both genetic and environmental risk…”
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Deep Scleral Exposure: A Degenerative Outcome of End-Stage Stargardt Disease by Lee, Winston, Zernant, Jana, Nagasaki, Takayuki, Tsang, Stephen H., Allikmets, Rando

“…To describe a distinct phenotypic outcome of outer retinal degeneration in a cohort of genetically confirmed patients with recessive Stargardt disease (STGD1)…”
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Flecks in Recessive Stargardt Disease: Short-Wavelength Autofluorescence, Near-Infrared Autofluorescence, and Optical Coherence Tomography by Sparrow, Janet R, Marsiglia, Marcela, Allikmets, Rando, Tsang, Stephen, Lee, Winston, Duncker, Tobias, Zernant, Jana

“…We evaluated the incongruous observation whereby flecks in recessive Stargardt disease (STGD1) can exhibit increased short-wavelength autofluorescence (SW-AF)…”
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A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases by Yamamoto, Shinya, Jaiswal, Manish, Charng, Wu-Lin, Gambin, Tomasz, Karaca, Ender, Mirzaa, Ghayda, Wiszniewski, Wojciech, Sandoval, Hector, Haelterman, Nele A., Xiong, Bo, Zhang, Ke, Bayat, Vafa, David, Gabriela, Li, Tongchao, Chen, Kuchuan, Gala, Upasana, Harel, Tamar, Pehlivan, Davut, Penney, Samantha, Vissers, Lisenka E.L.M., de Ligt, Joep, Jhangiani, Shalini N., Xie, Yajing, Tsang, Stephen H., Parman, Yesim, Sivaci, Merve, Battaloglu, Esra, Muzny, Donna, Wan, Ying-Wooi, Liu, Zhandong, Lin-Moore, Alexander T., Clark, Robin D., Curry, Cynthia J., Link, Nichole, Schulze, Karen L., Boerwinkle, Eric, Dobyns, William B., Allikmets, Rando, Gibbs, Richard A., Chen, Rui, Lupski, James R., Wangler, Michael F., Bellen, Hugo J.

“…Invertebrate model systems are powerful tools for studying human disease owing to their genetic tractability and ease of screening. We conducted a mosaic…”
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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications by Perea-Romero, Irene, Gordo, Gema, Iancu, Ionut F., Del Pozo-Valero, Marta, Almoguera, Berta, Blanco-Kelly, Fiona, Carreño, Ester, Jimenez-Rolando, Belen, Lopez-Rodriguez, Rosario, Lorda-Sanchez, Isabel, Martin-Merida, Inmaculada, Pérez de Ayala, Lucia, Riveiro-Alvarez, Rosa, Rodriguez-Pinilla, Elvira, Tahsin-Swafiri, Saoud, Trujillo-Tiebas, Maria J., Garcia-Sandoval, Blanca, Minguez, Pablo, Avila-Fernandez, Almudena, Corton, Marta, Ayuso, Carmen

“…Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at…”
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Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease by Zernant, Jana, Lee, Winston, Wang, Jun, Goetz, Kerry, Ullah, Ehsan, Nagasaki, Takayuki, Su, Pei-Yin, Fishman, Gerald A, Tsang, Stephen H, Tumminia, Santa J, Brooks, Brian P, Hufnagel, Robert B, Chen, Rui, Allikmets, Rando

“…Over 1,500 variants in the ABCA4 locus cause phenotypes ranging from severe, early-onset retinal degeneration to very late-onset maculopathies. The resulting…”
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Spectrum of Disease Severity and Phenotype in Choroideremia Carriers by Jauregui, Ruben, Park, Karen Sophia, Tanaka, Akemi J., Cho, Ahra, Paavo, Maarjaliis, Zernant, Jana, Francis, Jasmine H., Allikmets, Rando, Sparrow, Janet R., Tsang, Stephen H.

“…To characterize and bring awareness to the disease spectrum of female choroideremia patients, as severity can vary from mild to severe disease, comparable to…”
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Quantitative Fundus Autofluorescence Distinguishes ABCA4 -Associated and Non– ABCA4 -Associated Bull's-Eye Maculopathy by Duncker, Tobias, MD, Tsang, Stephen H., MD, PhD, Lee, Winston, MA, Zernant, Jana, MS, Allikmets, Rando, PhD, Delori, François C., PhD, Sparrow, Janet R., PhD

“…Purpose Quantitative fundus autofluorescence (qAF) and spectral-domain optical coherence tomography (SD OCT) were performed in patients with bull's-eye…”
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The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease by Tanaka, Koji, Lee, Winston, Zernant, Jana, Schuerch, Kaspar, Ciccone, Lyam, Tsang, Stephen H., Sparrow, Janet R., Allikmets, Rando

“…To characterize patients affected by a uniquely severe, rapid-onset chorioretinopathy (ROC) phenotype of ABCA4 disease. Comparative cohort study. Sixteen…”
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Variation in factor B ( BF ) and complement component 2 ( C2 ) genes is associated with age-related macular degeneration by Dean, Michael, Allikmets, Rando, Gold, Bert, Merriam, Joanna E, Zernant, Jana, Hancox, Lisa S, Taiber, Andrew J, Gehrs, Karen, Cramer, Kevin, Neel, Julia, Bergeron, Julie, Barile, Gaetano R, Smith, R Theodore, Hageman, Gregory S

“…Age-related macular degeneration (AMD) is the most common form of irreversible blindness in developed countries. Variants in the factor H gene (CFH, also known…”
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Analysis of the ABCA4 genomic locus in Stargardt disease by Zernant, Jana, Xie, Yajing Angela, Ayuso, Carmen, Riveiro-Alvarez, Rosa, Lopez-Martinez, Miguel-Angel, Simonelli, Francesca, Testa, Francesco, Gorin, Michael B, Strom, Samuel P, Bertelsen, Mette, Rosenberg, Thomas, Boone, Philip M, Yuan, Bo, Ayyagari, Radha, Nagy, Peter L, Tsang, Stephen H, Gouras, Peter, Collison, Frederick T, Lupski, James R, Fishman, Gerald A, Allikmets, Rando

“…Autosomal recessive Stargardt disease (STGD1, MIM 248200) is caused by mutations in the ABCA4 gene. Complete sequencing of ABCA4 in STGD patients identifies…”
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Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC) by Neale, Benjamin M, Fagerness, Jesen, Reynolds, Robyn, Sobrin, Lucia, Parker, Margaret, Raychaudhuri, Soumya, Tan, Perciliz L, Oh, Edwin C, Merriam, Joanna E, Souied, Eric, Bernstein, Paul S, Li, Binxing, Frederick, Jeanne M, Zhang, Kang, Brantley, Milam A. Jr, Lee, Aaron Y, Zack, Donald J, Campochiaro, Betsy, Campochiaro, Peter, Ripke, Stephan, Smith, R. Theodore, Barile, Gaetano R, Katsanis, Nicholas, Allikmets, Rando, Daly, Mark J, Seddon, Johanna M

“…Advanced age-related macular degeneration (AMD) is the leading cause of late onset blindness. We present results of a genome-wide association study of 979…”
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A case–control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants by Wolock, Charles J., Stong, Nicholas, Ma, Chu Jian, Nagasaki, Takayuki, Lee, Winston, Tsang, Stephen H., Kamalakaran, Sitharthan, Goldstein, David B., Allikmets, Rando

“…Purpose Variants in the ABCA4 gene are causal for a variety of retinal dystrophy phenotypes, including Stargardt disease (STGD1). However, 15% of patients who…”
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Whole Exome Sequencing Identifies CRB1 Defect in an Unusual Maculopathy Phenotype by Tsang, Stephen H., MD, PhD, Burke, Tomas, MD, Oll, Maris, MD, Yzer, Suzanne, MD, PhD, Lee, Winston, MA, Xie, Yajing (Angela), MA, Allikmets, Rando, PhD

“…Objective To report a new phenotype caused by mutations in the CRB1 gene in a family with 2 affected siblings. Design Molecular genetics and observational case…”
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The external limiting membrane in early-onset Stargardt disease by Lee, Winston, Nõupuu, Kalev, Oll, Maris, Duncker, Tobias, Burke, Tomas, Zernant, Jana, Bearelly, Srilaxmi, Tsang, Stephen H, Sparrow, Janet R, Allikmets, Rando

“…To describe pathologic changes of the external limiting membrane (ELM) in young patients with early-onset Stargardt (STGD1) disease. Twenty-six STGD1 patients…”
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