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1. Full Text NewMutations in the RAB28 Gene in 2 Spanish Families With Cone-Rod Dystrophy
by Riveiro-Alvarez, R and Xie, YJ and Lopez-Martinez, MA and Gambin, T and Perez-Carro, R and Avila-Fernandez, A and Lopez-Molina, MI and Zernant, J and Jhangiani, S and Muzny, D and Yuan, B and Boerwinkle, E and Gibbs, R and Lupski, JR and Ayuso, C and Allikmets, R
JAMA OPHTHALMOLOGY, ISSN 2168-6165, 02/2015, Volume 133, Issue 2, pp. 133 - 139
IMPORTANCE The families evaluated in this study represent the second report of cone-rod dystrophy (CRD) cases caused by mutations in RAB28, a recently... 
OPHTHALMOLOGY | MUTATIONS | RETINITIS-PIGMENTOSA | GTPASE | ABCR
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2. Full Text Comparison of short-wavelength reduced-illuminance and conventional autofluorescence imaging in Stargardt Macular Dystrophy
by Strauss, Rupert W.|Muñoz, Beatriz|Jha, Anamika|Ho, Alexander|Cideciyan, Artur V.|Kasilian, Melissa L.|Wolfson, Yulia|Sadda, SriniVas|West, Sheila|Scholl, Hendrik P.N.|Michaelides, Michel
American Journal of Ophthalmology, ISSN 0002-9394, 2016, Volume 168, pp. 269 - 278
Abstract Purpose To compare grading results between short-wavelength reduced-illuminance versus conventional autofluorescence imaging in Stargardt Macular... 
Ophthalmology | LIPOFUSCIN FLUOROPHORE | DESIGN | SCANNING LASER OPHTHALMOSCOPE | ATROPHY | FUNDUS AUTOFLUORESCENCE | DISEASE | OPHTHALMOLOGY | PROGRESSION | ABCR | Reproducibility of Results | Macular Degeneration - physiopathology | Humans | Middle Aged | Male | Macular Degeneration - congenital | Adult | Female | Ophthalmoscopy - methods | Fundus Oculi | Optical Imaging - methods | Fluorescein Angiography | Macula Lutea - pathology | Macular Degeneration - pathology | Fluorescence | Medical colleges | Comparative analysis | Diabetic retinopathy | Medical imaging | Clinical trials | Retina | Macular degeneration | Studies | Ethics | Lasers | Light | Quality | Stem cells | Photoreceptors | Mutation | Index Medicus | Abridged Index Medicus
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3. Full Text Intein-mediated protein trans-splicing expands adeno-associated virus transfer capacity in the retina
by Tornabene, P and Trapani, I and Minopoli, R and Centrulo, M and Lupo, M and de Simone, S and Tiberi, P and Dell'Aquila, F and Marrocco, E and Iodice, C and Iuliano, A and Gesualdo, C and Rossi, S and Giaquinto, L and Albert, S and Hoyng, CB and Polishchuk, E and Cremers, FPM and Surace, EM and Simonelli, F and De Matteis, MA and Polishchuk, R and Auricchio, A
SCIENCE TRANSLATIONAL MEDICINE, ISSN 1946-6234, 05/2019, Volume 11, Issue 492, p. eaav4523
Retinal gene therapy with adeno-associated viral (AAV) vectors holds promises for treating inherited and noninherited diseases of the eye. Although clinical... 
MEDICINE, RESEARCH & EXPERIMENTAL | AAV | DISEASE | GENE-THERAPY | NPU DNAE INTEIN | EXPRESSION | ABCR | VECTORS EXPAND | DELIVERY | CELL BIOLOGY
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4. Full Text Outcome of ABCA4 Disease-Associated Alleles in Autosomal Recessive Retinal Dystrophies
by Riveiro-Alvarez, Rosa, PhD|Lopez-Martinez, Miguel-Angel, SLT|Zernant, Jana, MSc|Aguirre-Lamban, Jana, PhD|Cantalapiedra, Diego, BSc|Avila-Fernandez, Almudena, PhD|Gimenez, Ascension, SLT|Lopez-Molina, Maria-Isabel, MD|Garcia-Sandoval, Blanca, MD, PhD|Blanco-Kelly, Fiona, MD, PhD|Corton, Marta, PhD|Tatu, Sorina, BSc|Fernandez-San Jose, Patricia, BSc|Trujillo-Tiebas, Maria-Jose, PhD|Ramos, Carmen, PhD|Allikmets, Rando, PhD|Ayuso, Carmen, MD, PhD
Ophthalmology, ISSN 0161-6420, 2013, Volume 120, Issue 11, pp. 2332 - 2337
Objective To provide a comprehensive overview of all detected mutations in the ABCA4 gene in Spanish families with autosomal recessive retinal disorders,... 
Ophthalmology | MUTATION ANALYSIS | OPHTHALMOLOGY | GENE ABCR | GENOTYPING MICROARRAY | PHENOTYPES | RETINITIS-PIGMENTOSA | SPANISH FAMILIES | STARGARDT-DISEASE | MOLECULAR ANALYSIS | Cells
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5. Full Text Localization, Purification, and Functional Reconstitution of the P-4-ATPase Atp8a2, a Phosphatidylserine Flippase in Photoreceptor Disc Membranes
by Coleman, JA and Kwok, MCM and Molday, RS
JOURNAL OF BIOLOGICAL CHEMISTRY, ISSN 0021-9258, 11/2009, Volume 284, Issue 47, pp. 32670 - 32679
P-4-ATPases comprise a relatively new subfamily of P-type ATPases implicated in the energy-dependent translocation of aminophospholipids across cell membranes.... 
LIPID ASYMMETRY | RIM PROTEIN | P-TYPE ATPASE | OUTER SEGMENT DISK | BOVINE | BIOCHEMISTRY & MOLECULAR BIOLOGY | DRS2P | AMINOPHOSPHOLIPID TRANSLOCASE | PLASMA-MEMBRANE | ABCR | GLYCOPROTEIN MULTIDRUG TRANSPORTER
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6. Full Text Phenotypic Variation in a Family With Pseudodominant Stargardt Disease
by Huckfeldt, Rachel M and East, Jade S and Stone, Edwin M and Sohn, Elliott H
JAMA Ophthalmology, ISSN 2168-6165, 05/2016, Volume 134, Issue 5, pp. 580 - 583
IMPORTANCE: Stargardt disease is a phenotypically diverse macular dystrophy caused by the autosomal recessive inheritance of mutations in ABCA4. Pseudodominant... 
OPHTHALMOLOGY | MUTATIONS | TRANSPORTER GENE | ABCR | Macular degeneration | Phenotype | Genetic aspects | Research | Gene mutations | Risk factors
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7. Full Text Next-generation genetic testing for retinitis pigmentosa
by Neveling, K and Collin, R.W.J and Gilissen, C and Huet, R.A. van and Visser, L and Kwint, M.P and Gijsen, S.J and Zonneveld, M.N and Wieskamp, N and Ligt, J. de and Siemiatkowska, A.M and Hoefsloot, L.H and Buckley, M.F and Kellner, U and Branham, K.E and Hollander, A.I. den and Hoischen, A and Hoyng, C and Klevering, B.J and Born, L.I. van den and Veltman, J.A and Cremers, F.P and Scheffer, H
Human Mutation, ISSN 1059-7794, 2012, Volume 33, Issue 6, pp. 963 - 972
Molecular diagnostics for patients with retinitis pigmentosa (RP) has been hampered by extreme genetic and clinical heterogeneity, with 52 causative genes... 
DNA diagnostics | NGS | Retinitis pigmentosa | Blindness | Clinical molecular diagnostics | RETINAL DEGENERATION | MENTAL-RETARDATION | MICROARRAY | blindness | MISSENSE MUTATIONS | LEBER CONGENITAL AMAUROSIS | CONE-ROD DYSTROPHY | DNA | ABCA4 ABCR GENE | DISEASE | GENETICS & HEREDITY | retinitis pigmentosa | clinical molecular diagnostics | PROTEIN FUNCTION | Pathogenicity | X chromosome | Data processing | Retina | Mutation | Genetic counselling | Genetic screening | Computational Biology - methods | Reproducibility of Results | Humans | Retinitis Pigmentosa - genetics | Genotype | Male | Retinitis Pigmentosa - diagnosis | Genetic Variation | Phenotype | Pedigree | Alleles | Female | High-Throughput Nucleotide Sequencing - methods | Quality Control | Index Medicus
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8. Full Text Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer
by Akiyama, M and Sugiyama-Nakagiri, Y and Sakai, K and McMillan, JR and Goto, M and Arita, K and Tsuji-Abe, Y and Tabata, N and Matsuoka, K and Sasaki, R and Sawamura, D and Shimizu, H
JOURNAL OF CLINICAL INVESTIGATION, ISSN 0021-9738, 07/2005, Volume 115, Issue 7, pp. 1777 - 1784
Harlequin ichthyosis (HI) is a devastating skin disorder with an unknown underlying cause. Abnormal keratinocyte lamellar granules (LGs) are a hallmark of HI... 
MEDICINE, RESEARCH & EXPERIMENTAL | TANGIER-DISEASE | PROTEIN | CHOLESTEROL | DENSITY-LIPOPROTEIN DEFICIENCY | LAMELLAR GRANULES | AMNIOTIC-FLUID CELLS | IDENTIFICATION | ABCR | PRENATAL-DIAGNOSIS | STARGARDT-DISEASE
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9. Full Text Genotyping microarray (gene chip) for the ABCR (ABCA4) gene
by Jaakson, K and Zernant, J and Kulm, M and Hutchinson, A and Tonisson, N and Glavac, D and Ravnik-Glavac, M and Hawlina, M and Meltzer, M.R and Caruso, R.C and Testa, F and Maugeri, A and Hoyng, C.B and Gouras, P and Simonelli, F and Lewis, R.A and Lupski, J.R and Cremers, F.P.M and Allikmets, R
Human Mutation, ISSN 1059-7794, 2003, Volume 22, Issue 5, pp. 395 - 403
Genetic variation in the ABCR (ABCA4) gene has been associated with five distinct retinal phenotypes, including Stargardt disease/fundus flavimaculatus... 
microarray | mutation detection | genotyping | ABCA4 | mutation screening | Stargardt disease | STGD1 | ABCR | Mutation detection | Genotyping | Mutation screening | Microarray | SEQUENCE VARIATION | RECESSIVE RETINITIS-PIGMENTOSA | MACULAR DEGENERATION | ARRAYED PRIMER EXTENSION | ALLELIC VARIATION | CONE-ROD DYSTROPHY | TRANSPORTER GENE | GENETICS & HEREDITY | CYSTIC-FIBROSIS | STARGARDT-DISEASE | DNA microarrays | Eye diseases | ABCR gene | Genetic diversity | Diagnosis | Single strand conformation polymorphism | gene chips | Genetic Variation | Retinal Diseases - genetics | Reproducibility of Results | ATP-Binding Cassette Transporters - genetics | Oligonucleotide Array Sequence Analysis - methods | Humans | Genotype | DNA Mutational Analysis - methods | Polymorphism, Genetic | Index Medicus
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10. Full Text ABCA4 is an N-retinylidene-phosphatidylethanolamine and phosphatidylethanolamine importer
by Quazi, Faraz and Lenevich, Stepan and Molday, Robert S
Nature Communications, ISSN 2041-1723, 2012, Volume 3, Issue 1, pp. 925 - 925
ATP-binding cassette (ABC) transporters comprise a superfamily of proteins, which actively transport a variety of compounds across cell membranes. Mammalian... 
TRANSPORTER ABCA4 | ROD OUTER SEGMENTS | LIPID TRANSPORT | DISEASE GENE ABCR | RIM PROTEIN | CHOLESTEROL | STARGARDT MACULAR DYSTROPHY | MEMBRANE | MULTIDISCIPLINARY SCIENCES | ALL-TRANS-RETINOL | BINDING | Retinoids - metabolism | Animals | ATP-Binding Cassette Transporters - genetics | ATP-Binding Cassette Transporters - metabolism | Mice | Liposomes | Phosphatidylethanolamines - metabolism | Photoreceptor Cells, Vertebrate - metabolism | Mice, Knockout | Index Medicus
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11. Full Text Insights into the Function of Rim Protein in Photoreceptors and Etiology of Stargardt's Disease from the Phenotype in abcr Knockout Mice
by Weng, Jian and Mata, Nathan L and Azarian, Sassan M and Tzekov, Radouil T and Birch, David G and Travis, Gabriel H
Cell, ISSN 0092-8674, 1999, Volume 98, Issue 1, pp. 13 - 23
Rim protein (RmP) is an ABC transporter of unknown function in rod outer segment discs. The human gene for RmP (ABCR) is affected in several recessive retinal... 
PERFORMANCE LIQUID-CHROMATOGRAPHY | FUNDUS FLAVIMACULATUS | BIOCHEMISTRY & MOLECULAR BIOLOGY | ROD DARK-ADAPTATION | MACULAR DEGENERATION | GENE ABCR | FATTY-ACIDS | RETINITIS-PIGMENTOSA | LIGHT ADAPTATION | RETINAL-PIGMENT EPITHELIUM | OUTER SEGMENTS | CELL BIOLOGY | all-trans-retinaldehyde | Stargardt's disease | phosphatidylethanolamine | Rim protein | opsin | Photoreceptors | Retina | ABCR gene | ABC transporter | mice | RmP gene | Electroretinography | Rod Cell Outer Segment | Darkness | Rhodopsin | Abca4 protein, mouse | Humans | Genomic Library | Metabolic Clearance Rate | Phospholipids | Retinaldehyde | Adaptation, Ocular | Mice, Knockout | Index Medicus | ATP-Binding Cassette Transporters | Phenotype | Animals | ABCA4 protein, human | Mice | Macular Degeneration | Rod Cell Outer Segment - physiopathology | Macular Degeneration - physiopathology | Retina - physiopathology | Rhodopsin - metabolism | ATP-Binding Cassette Transporters - physiology | Retinaldehyde - pharmacokinetics | Rod Cell Outer Segment - chemistry | Retina - physiology | ATP-Binding Cassette Transporters - genetics | Macular Degeneration - genetics | Phospholipids - metabolism | Schiff bases | Genetic aspects | Wetland flora | Retinal degeneration | Causes of | Research | Retinal diseases
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12. Full Text Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration
by Zernant, Jana and Lee, Winston and Collison, Frederick T and Fishman, Gerald A and Sergeev, Yuri V and Schuerch, Kaspar and Sparrow, Janet R and Tsang, Stephen H and Allikmets, Rando
Journal of Medical Genetics, ISSN 0022-2593, 06/2017, Volume 54, Issue 6, pp. 404 - 412
Background Variation in the ABCA4 gene is causal for, or associated with, a wide range of phenotypes from early onset Mendelian retinal dystrophies to... 
RETINOPATHIES | VARIANTS | CONE-ROD DYSTROPHY | GENETICS & HEREDITY | FUNCTIONAL-ANALYSIS | GENE ABCR | PHENOTYPES | MUTATIONS | RETINITIS-PIGMENTOSA | ASSOCIATION | STARGARDT-DISEASE | retinal degeneration | Benign | ABCA4 | Retina | ABCA4 protein | Genetic diversity | Population genetics | imaging | foveal sparing | Macular degeneration | hypomorphic variant | Gene frequency | Age-related macular degeneration | Mutation | Open reading frames | Stargardt disease | Age | Allelomorphism | Retinal degeneration | Research | Retinal diseases | Analysis | Index Medicus
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13. Full Text Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome
by Bujakowska, K.M and Zhang, Q and Siemiatkowska, A.M and Liu, Q and Place, E and Falk, M.J and Consugar, M and Lancelot, M.E and Antonio, A and Lonjou, C and Carpentier, W and Mohand-Said, S and Hollander, A.I. den and Cremers, F.P.M and Leroy, B.P and Gai, X and Sahel, J.A and Born, L.I. van den and Collin, R.W.J and Zeitz, C and Audo, I and Pierce, E.A
Human Molecular Genetics, ISSN 0964-6906, 2015, Volume 24, Issue 1, pp. 230 - 242
Primary cilia are sensory organelles present on most mammalian cells. The assembly and maintenance of primary cilia are facilitated by intraflagellar transport... 
JOUBERT-SYNDROME | CILIARY | LEBER CONGENITAL AMAUROSIS | DYSTROPHY | BIOCHEMISTRY & MOLECULAR BIOLOGY | NONSYNDROMIC RETINITIS-PIGMENTOSA | IN-VIVO | GENETICS & HEREDITY | GENE ABCR | INTRAFLAGELLAR TRANSPORT PROTEIN | CENTROSOMAL PROTEIN | STATIONARY NIGHT BLINDNESS | Retina - metabolism | Humans | Cells, Cultured | Rats | Retinitis Pigmentosa - genetics | Male | Zebrafish | Sequence Analysis, DNA | Exome | Young Adult | Carrier Proteins - genetics | Animals | Pedigree | Bardet-Biedl Syndrome - pathology | Adolescent | Adult | Bardet-Biedl Syndrome - genetics | Female | High-Throughput Nucleotide Sequencing | Mutation | Retina - pathology | Retinitis Pigmentosa - pathology | Index Medicus | Life Sciences | Biochemistry, Molecular Biology | Genomics
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14. Full Text Vascular abnormalities in patients with Stargardt disease assessed with optical coherence tomography angiography
by Battaglia Parodi, Maurizio and Cicinelli, Maria Vittoria and Rabiolo, Alessandro and Pierro, Luisa and Bolognesi, Gianluigi and Bandello, Francesco
British Journal of Ophthalmology, ISSN 0007-1161, 06/2017, Volume 101, Issue 6, pp. 780 - 785
AimsTo describe the vascular abnormalities in patients affected by Stargardt disease (STGD1) by means of optical coherence tomography angiography... 
Macula | Retina | Dystrophy | Diagnostic tests/Investigation | FLAVIMACULATUS | GENE | FUNDUS AUTOFLUORESCENCE | MACULAR DYSTROPHY | OPHTHALMOLOGY | RETINA | MORPHOLOGY | ABCR | Electroretinography | Cross-Sectional Studies | Follow-Up Studies | Macular Degeneration - physiopathology | Fluorescein Angiography - methods | Humans | Male | Tomography, Optical Coherence - methods | Visual Acuity | Macular Degeneration - diagnosis | Retinal Vessels - pathology | Macular Degeneration - congenital | Adult | Female | Retrospective Studies | Fundus Oculi | Macular degeneration | Usage | Care and treatment | Angiography | Physiological aspects | Diagnosis | Patients | Index Medicus
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15. Full Text Mammalian P-4-ATPases and ABC transporters and their role in phospholipid transport
by Coleman, JA and Quazi, F and Molday, RS
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS, ISSN 1388-1981, 03/2013, Volume 1831, Issue 3, pp. 555 - 574
Transport of phospholipids across cell membranes plays a key role in a wide variety of biological processes. These include membrane biosynthesis, generation... 
Lipid transport diseases | BIOCHEMISTRY & MOLECULAR BIOLOGY | Phospholipid transport | MULTIDRUG-RESISTANCE PROTEIN | BILIARY CHOLESTEROL SECRETION | Lipid homeostasis | Membrane asymmetry | HIGH-DENSITY-LIPOPROTEIN | CELL BIOLOGY | PUTATIVE AMINOPHOSPHOLIPID TRANSLOCASE | ATP-BINDING CASSETTE | BIOPHYSICS | P-TYPE ATPASES | DISEASE GENE ABCR | STARGARDT MACULAR DYSTROPHY | P-4-ATPases | ABC transporters | N-RETINYLIDENE-PHOSPHATIDYLETHANOLAMINE | APOLIPOPROTEIN-A-I
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16. Full Text Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa
by Budd A. Tucker and Todd E. Scheetz and Robert F. Mullins and Adam P. DeLuca and Jeremy M. Hoffmann and Rebecca M. Johnston and Samuel G. Jacobson and Val C. Sheffield and Edwin M. Stone
Proceedings of the National Academy of Sciences, ISSN 0027-8424, 08/2011, Volume 108, Issue 34, pp. E569 - E576
Retinitis pigmentosa (RP) is a genetically heterogeneous heritable disease characterized by apoptotic death of photoreceptor cells. We used exome sequencing to... 
Retinal degeneration | Photoreceptor differentiation | Disease modeling | Next generation sequencing | retinal degeneration | next generation sequencing | PROTEIN-KINASE | MULTIDISCIPLINARY SCIENCES | disease modeling | ABCR | DISCOVERY | DEGENERATION | ALIGNMENT | DATABASE | MUTATIONS | photoreceptor differentiation | STARGARDT-DISEASE | Immunohistochemistry | Alternative splicing | Transcription | Exons | Retinitis pigmentosa | Insertion | Retina | Pathogenicity | Axons | Cones | Donors | Stem cells | Photoreceptors | Skin | Mutation | Cell body | Apoptosis | Eye diseases | Kinases | Humans | Molecular Sequence Data | Jews - genetics | Point Mutation - genetics | Retinal Cone Photoreceptor Cells - enzymology | Retinitis Pigmentosa - complications | Isoenzymes - metabolism | Retinal Cone Photoreceptor Cells - pathology | Retinal Rod Photoreceptor Cells - enzymology | Cell Differentiation | Alu Elements - genetics | Genealogy and Heraldry | Induced Pluripotent Stem Cells - metabolism | Biomarkers - metabolism | Amino Acid Sequence | Protein-Serine-Threoni