Role of the ABCA4 Gene Expression in the Clearance of Toxic Vitamin A Derivatives in Human Hair Follicle Stem Cells and Keratinocytes.
International Journal Of Molecular Sciences
Ścieżyńska, Aneta A; Łuszczyński, Krzysztof K; Radziszewski, Marcin M; Komorowski, Michał M; Soszyńska, Marta M; Krześniak, Natalia N; Shevchenko, Kateryna K; Lutyńska, Anna A; Malejczyk, Jacek J
Monitoring Lesion Area Progression in Stargardt Disease: A Comparison of En Face Optical Coherence Tomography and Fundus Autofluorescence.
Translational Vision Science & Technology
Greenstein, Vivienne C VC; Castillejos, David S DS; Tsang, Stephen H SH; Lee, Winston W; Sparrow, Janet R JR; Allikmets, Rando R; Birch, David G DG; Hood, Donald C DC
Publication Date: 2023-05-01
Variant appearance in text: ABCA4: 2894A>G; Asn965Ser
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Frontiers In Cell And Developmental Biology
Panneman, Daan M DM; Hitti-Malin, Rebekkah J RJ; Holtes, Lara K LK; de Bruijn, Suzanne E SE; Reurink, Janine J; Boonen, Erica G M EGM; Khan, Muhammad Imran MI; Ali, Manir M; Andréasson, Sten S; De Baere, Elfride E; Banfi, Sandro S; Bauwens, Miriam M; Ben-Yosef, Tamar T; Bocquet, Béatrice B; De Bruyne, Marieke M; de la Cerda, Berta B; Coppieters, Frauke F; Farinelli, Pietro P; Guignard, Thomas T; Inglehearn, Chris F CF; Karali, Marianthi M; Kjellström, Ulrika U; Koenekoop, Robert R; de Koning, Bart B; Leroy, Bart P BP; McKibbin, Martin M; Meunier, Isabelle I; Nikopoulos, Konstantinos K; Nishiguchi, Koji M KM; Poulter, James A JA; Rivolta, Carlo C; Rodríguez de la Rúa, Enrique E; Saunders, Patrick P; Simonelli, Francesca F; Tatour, Yasmin Y; Testa, Francesco F; Thiadens, Alberta A H J AAHJ; Toomes, Carmel C; Tracewska, Anna M AM; Tran, Hoai Viet HV; Ushida, Hiroaki H; Vaclavik, Veronika V; Verhoeven, Virginie J M VJM; van de Vorst, Maartje M; Gilissen, Christian C; Hoischen, Alexander A; Cremers, Frans P M FPM; Roosing, Susanne S
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Scientific Reports
Karali, Marianthi M; Testa, Francesco F; Di Iorio, Valentina V; Torella, Annalaura A; Zeuli, Roberta R; Scarpato, Margherita M; Romano, Francesca F; Onore, Maria Elena ME; Pizzo, Mariateresa M; Melillo, Paolo P; Brunetti-Pierri, Raffaella R; Passerini, Ilaria I; Pelo, Elisabetta E; Cremers, Frans P M FPM; Esposito, Gabriella G; Nigro, Vincenzo V; Simonelli, Francesca F; Banfi, Sandro S
Atrophy Expansion Rates in Stargardt Disease Using Ultra-Widefield Fundus Autofluorescence.
Ophthalmology Science
Heath Jeffery, Rachael C RC; Thompson, Jennifer A JA; Lo, Johnny J; Lamey, Tina M TM; McLaren, Terri L TL; McAllister, Ian L IL; Mackey, David A DA; Constable, Ian J IJ; De Roach, John N JN; Chen, Fred K FK
SIBLING CONCORDANCE IN SYMPTOM ONSET AND ATROPHY GROWTH RATES IN STARGARDT DISEASE USING ULTRA-WIDEFIELD FUNDUS AUTOFLUORESCENCE.
Retina (Philadelphia, Pa.)
Heath Jeffery, Rachael C RC; Thompson, Jennifer A JA; Lo, Johnny J; Lamey, Tina M TM; McLaren, Terri L TL; De Roach, John N JN; Azamanov, Dimitar N DN; McAllister, Ian L IL; Constable, Ian J IJ; Chen, Fred K FK
Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.
Investigative Ophthalmology & Visual Science
Del Pozo-Valero, Marta M; Riveiro-Alvarez, Rosa R; Martin-Merida, Inmaculada I; Blanco-Kelly, Fiona F; Swafiri, Saoud S; Lorda-Sanchez, Isabel I; Trujillo-Tiebas, Maria José MJ; Carreño, Ester E; Jimenez-Rolando, Belen B; Garcia-Sandoval, Blanca B; Corton, Marta M; Avila-Fernandez, Almudena A; Ayuso, Carmen C
Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.
Investigative Ophthalmology & Visual Science
Del Pozo-Valero, Marta M; Riveiro-Alvarez, Rosa R; Martin-Merida, Inmaculada I; Blanco-Kelly, Fiona F; Swafiri, Saoud S; Lorda-Sanchez, Isabel I; Trujillo-Tiebas, Maria José MJ; Carreño, Ester E; Jimenez-Rolando, Belen B; Garcia-Sandoval, Blanca B; Corton, Marta M; Avila-Fernandez, Almudena A; Ayuso, Carmen C
A phase I clinical trial of human embryonic stem cell-derived retinal pigment epithelial cells for early-stage Stargardt macular degeneration: 5-years' follow-up.
Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients.
Frontiers In Genetics
Mena, Marcela D MD; Moresco, Angélica A AA; Vidal, Sofía H SH; Aguilar-Cortes, Diana D; Obregon, María G MG; Fandiño, Adriana C AC; Sendoya, Juan M JM; Llera, Andrea S AS; Podhajcer, Osvaldo L OL
Identification of Four Novel Variants and Determination of Genotype-Phenotype Correlations for ABCA4 Variants Associated With Inherited Retinal Degenerations.
Frontiers In Cell And Developmental Biology
Zhu, Qing Q; Rui, Xue X; Li, Ya Y; You, Ya Y; Sheng, Xun-Lun XL; Lei, Bo B
Characterisation of vascular changes in different stages of Stargardt disease using double swept-source optical coherence tomography angiography.
Bmj Open Ophthalmology
Reich, Michael M; Glatz, Andreas A; Cakir, Bertan B; Böhringer, Daniel D; Lang, Stefan S; Küchlin, Sebastian S; Joachimsen, Lutz L; Lagreze, Wolf W; Agostini, Hansjuergen T HT; Lange, Clemens C
Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland.
Genes
Tracewska, Anna M AM; Kocyła-Karczmarewicz, Beata B; Rafalska, Agnieszka A; Murawska, Joanna J; Jakubaszko-Jablonska, Joanna J; Rydzanicz, Małgorzata M; Stawiński, Piotr P; Ciara, Elżbieta E; Khan, Muhammad Imran MI; Henkes, Arjen A; Hoischen, Alexander A; Gilissen, Christian C; van de Vorst, Maartje M; Cremers, Frans P M FPM; Płoski, Rafał R; Chrzanowska, Krystyna H KH