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abca4 (176) 176
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1. Full Text The common ABCA4 variant p.Asn1868ile shows nonpenetrance and variable expression of stargardt disease when present in trans with severe variants
by Runhart, E.H and Sangermano, Riccardo and Cornelis, S.S and Verheij, Joke and Plomp, Astrid and Boon, Camiel and Lugtenberg, D and Roosing, Susanne and Bax, Nathalie and Blokland, Ellen and Jacobs-Camps, M.H.M and van der Velde-Visser, S.D and Pott, J.-W.R and Rohrschneider, Klaus and Thiadens, Alberta and Klaver, Caroline and Born, Ingeborgh and Hoyng, Carel and Cremers, Frans
Investigative ophthalmology & visual science, ISSN 0146-0404, 07/2018, Volume 59, Issue 8, pp. 3220 - 3231
Nonpenetrance | ABCA4 protein | Stargardt disease | Retinal dystrophy | Modifiers
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2. Full Text ABCA4 gene screening in a Chinese cohort with Stargardt disease: Identification of 37 novel variants
by Hu, Fang-Yuan and Li, Jian-kang and Gao, Feng-Juan and Qi, Yu-He and Xu, Ping and Zhang, Yong-Jin and Wang, Dan-Dan and Wang, Lu-Sheng and Li, Wei and Wang, Min and Chen, Fang and Xu, Ge-Zhi and Zhang, Sheng-Hai and Chang, Qing and Wu, Ji-Hong
Frontiers in genetics, ISSN 1664-8021, 2019, Volume 10, pp. 773 - 773
Mutation spectrum4 | ABCA4 gene3 | Next-generation sequencing2 | STGD11 | Variant frequency5 | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Eye diseases | Genes | Analysis | Genetic screening | mutation spectrum | variant frequency | STGD1 | next-generation sequencing | ABCA4 gene
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3. Full Text Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort
Experimental eye research, 01/2021, Volume 202, pp. 108389 - 108389
Index Medicus
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4. Full Text Assessment of AAV Dual Vector Safety in theAbca4 -/- Mouse Model of Stargardt Disease
Translational vision science & technology, ISSN 2164-2591, 06/2020, Volume 9, Issue 7, pp. 20 - 20
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5. Full Text Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles
by Sciezynska, Aneta and Soszynska, Marta and Komorowski, Michal and Podgorska, Anna and Krzesniak, Natalia and Nogowska, Aleksandra and Smolinska, Martyna and Szulborski, Kamil and Szaflik, Jacek P and Noszczyk, Bartlomiej and Oldak, Monika and Malejczyk, Jacek
International journal of molecular sciences, ISSN 1422-0067, 05/2020, Volume 21, Issue 10, p. 3430
Biochemistry & Molecular Biology | Physical Sciences | Chemistry | Life Sciences & Biomedicine | Chemistry, Multidisciplinary | Science & Technology | Hair | Disease | Transcription | Retina | Nucleotides | Gene expression | Follicles | Macular degeneration | Pathogenicity | Proteins | Fibroblasts | Photoreceptors | Eye diseases | Mutation | Index Medicus | hair follicles | Stargardt disease | ABCA4 retinopathies | ABCA4 gene mutations | molecular analysis | splice-site variants
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6. Full Text Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
by Sangermano, Riccardo and Garanto, Alejano and Khan, Mubeen and Runhart, Esmee H and Bauwens, Miriam and Bax, Nathalie M and van den Born, L. Ingeborgh and Khan, Muhammad Imran and Cornelis, Stephanie S and Verheij, Joke B. G. M and Pott, Jan-Willem R and Thiadens, Alberta A. H. J and Klaver, Caroline C. W and Puech, Bernard and Meunier, Isabelle and Naessens, Sarah and Arno, Gavin and Fakin, Ana and Carss, Keren J and Raymond, F. Lucy and Webster, Anew R and Dhaenens, Claire-Marie and Stoehr, Heidi and Grassmann, Felix and Weber, Bernhard H. F and Hoyng, Carel B and De Baere, Elfride and Albert, Silvia and Collin, Rob W. J and Cremers, Frans P. M
Genetics in medicine, ISSN 1098-3600, 08/2019, Volume 21, Issue 8, pp. 1751 - 1760
POPULATION | IN-VITRO | GENE | antisense oligonucleotide | ABCA4 | deep-intronic variant | missing heritability | Stargardt disease | MUTATIONS | REVEALS
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7. Full Text Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles
by Runhart, Esmee H and Valkenburg, Dyon and Cornelis, Stephanie S and Khan, Mubeen and Sangermano, Riccardo and Albert, Silvia and Bax, Nathalie M and Astuti, Galuh D. N and Gilissen, Christian and Pott, Jan-Willem R and Verheij, Joke B. G. M and Blokland, Ellen A. W and Cremers, Frans P. M and van den Born, L. Ingeborgh and Hoyng, Carel B
Investigative ophthalmology & visual science, ISSN 0146-0404, 10/2019, Volume 60, Issue 13, pp. 4249 - 4256
disease expression | differential diagnosis | NONPENETRANCE | P.ASN1868ILE ALLELE | ABCA4 | penetrance | MOUSE MODEL | Stargardt disease | AUTOFLUORESCENCE | RETINAL-PIGMENT EPITHELIUM
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8. Full Text Acute stress responses are early molecular events of retinal degeneration in Abca4-/-Rdh8-/- mice after light exposure
by Parmar, Tanu and Parmar, Vipul M and Arai, Eisuke and Sahu, Bhubanananda and Perusek, Lindsay and Maeda, Akiko
Investigative ophthalmology & visual science, ISSN 0146-0404, 06/2016, Volume 57, Issue 7, pp. 3257 - 3267
Early stress response | Rdh8 | mice | RPE | Abca4 | Visual cycle | Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Retinal Pigment Epithelium - metabolism | Lipocalin-2 - biosynthesis | Oxidative Stress | Humans | Alcohol Oxidoreductases - biosynthesis | Retinal Degeneration - metabolism | RNA - genetics | Alcohol Oxidoreductases - genetics | Retinal Pigment Epithelium - pathology | ATP-Binding Cassette Transporters - genetics | Mice, Mutant Strains | Light | Cell Death | Retinal Pigment Epithelium - radiation effects | Lipocalin-2 - genetics | Real-Time Polymerase Chain Reaction | Disease Models, Animal | Acute Disease | Enzyme-Linked Immunosorbent Assay | Tomography, Optical Coherence | Mice, Inbred C57BL | Cells, Cultured | Gene Expression Regulation | ATP-Binding Cassette Transporters - biosynthesis | Animals | Mice | Retinal Degeneration - pathology | Index Medicus | visual cycle, early stress response, RPE, Abca4 | Retinal Cell Biology
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9. Full Text In Situ Morphologic and Spectral Characterization of Retinal Pigment Epithelium Organelles in Mice Using Multicolor Confocal Fluorescence Imaging
by Meleppat, Ratheesh K and Ronning, Kaitryn E and Karlen, Sarah J and Kothandath, Karuna K and Burns, Marie E and Pugh, Edward N and Zawadzki, Robert J
Investigative ophthalmology & visual science, ISSN 0146-0404, 11/2020, Volume 61, Issue 13, pp. 1 - 1
Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Index Medicus
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10. Full Text Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
by Khan, Mubeen and Cornelis, Stéphanie S and Pozo-Valero, Marta Del and Whelan, Laura and Runhart, Esmee H and Mishra, Ketan and Bults, Femke and AlSwaiti, Yahya and AlTalbishi, Alaa and de Baere, Elfride and Banfi, Sano and Banin, Eyal and Bauwens, Miriam and Ben-Yosef, Tamar and Boon, Camiel J. F and van den Born, L. Ingeborgh and Defoort, Sabine and Devos, Aurore and Dockery, Aian and Dudakova, Lubica and Fakin, Ana and Farrar, G. Jane and Sallum, Juliana Maria Ferraz and Fujinami, Kaoru and Gilissen, Christian and Glavač, Damjan and Gorin, Michael B and Greenberg, Jacquie and Hayashi, Takaaki and Hettinga, Ymkje M and Hoischen, Alexander and Hoyng, Carel B and Hufendiek, Karsten and Jägle, Herbert and Kamakari, Smaragda and Karali, Marianthi and Kellner, Ulrich and Klaver, Caroline C. W and Kousal, Bohdan and Lamey, Tina M and MacDonald, Ian M and Matynia, Anna and McLaren, Terri L and Mena, Marcela D and Meunier, Isabelle and Miller, Rianne and Newman, Hadas and Ntozini, Buhle and Oldak, Monika and Pieterse, Marc and Podhajcer, Osvaldo L and Puech, Bernard and Ramesar, Raj and Rüther, Klaus and Salameh, Manar and Salles, Mariana Vallim and Sharon, r and Simonelli, Francesca and Spital, Georg and Steehouwer, Marloes and Szaflik, Jacek P and Thompson, Jennifer A and Thuillier, Caroline and Tracewska, Anna M and van Zweeden, Martine and Vincent, Anea L and Zanlonghi, Xavier and Liskova, Petra and Stöhr, Heidi and Roach, John N. De and Ayuso, Carmen and Roberts, Lisa and Weber, Bernhard H. F and Dhaenens, Claire‐Marie and Cremers, Frans P. M
Genetics in medicine, ISSN 1098-3600, 2020, Volume 22, Issue 7, pp. 1235 - 1246
structural variants | smMIPs | deep-intronic variants | Stargardt disease | Genetics(clinical) | ABCA4 | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Index Medicus
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11. Full Text Correlating the expression and functional activity of ABCA4 disease variants with the phenotype of patients with stargardt disease
by Garces, Fabian and Jiang, Kailun and Molday, Laurie L and Stöhr, Heidi and Weber, Bernhard H and Lyons, Christopher J and Maberley, David and Molday, Robert S
Investigative ophthalmology & visual science, ISSN 0146-0404, 05/2018, Volume 59, Issue 6, pp. 2305 - 2315
Protein expression | Functional activity | Stargardt disease | Phenotype-genotype | ABCA4 | Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Index Medicus | phenotype-genotype | Biochemistry and Molecular Biology | protein expression | functional activity
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12. Full Text Mutation spectrum of the ABCA4 gene in 335 stargardt disease patients from a multicenter German cohort—impact of selected deep intronic variants and common SNPs
by Schulz, Heidi L and Grassmann, Felix and Kellner, Ulrich and Spital, Georg and Rüther, Klaus and Jägle, Herbert and Hufendiek, Karsten and Rating, Philipp and Huchzermeyer, Cord and Baier, Maria J and Weber, Bernhard H. F and Stöhr, Heidi
Investigative ophthalmology & visual science, ISSN 0146-0404, 01/2017, Volume 58, Issue 1, pp. 394 - 403
Stargardt disease | Mutation screening | Genetic risk score | ABCA4 | Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Follow-Up Studies | Exons | Introns | Humans | Male | DNA - genetics | Macular Degeneration - metabolism | Macular Degeneration - congenital | ATP-Binding Cassette Transporters - genetics | Macular Degeneration - genetics | DNA Mutational Analysis | Pedigree | Alleles | ATP-Binding Cassette Transporters - metabolism | Female | Polymorphism, Single Nucleotide | Retrospective Studies | Mutation | Index Medicus | mutation screening | Genetics | genetic risk score
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13. Full Text Quantitative fundus autofluorescence in recessive stargardt disease
by Burke, Tomas R and Duncker, Tobias and Woods, Russell L and Greenberg, Jonathan P and Zernant, Jana and Tsang, Stephen H and Theodore Smith, R and Allikmets, Rando and Sparrow, Janet R and Delori, François C
Investigative ophthalmology & visual science, ISSN 0146-0404, 03/2014, Volume 55, Issue 5, pp. 2841 - 2852
Lipofuscin | Recessive Stargardt disease | Scanning laser ophthalmoscope | Quantitative fundus autofluorescence | Retinal pigment epithelium | ABCA4 | Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Reproducibility of Results | Prospective Studies | Humans | Middle Aged | Fluorescence | Male | Case-Control Studies | Young Adult | Retinal Pigment Epithelium - pathology | Macular Degeneration - congenital | Macular Degeneration - genetics | Adolescent | Adult | Female | Ophthalmoscopy - methods | Child | Fundus Oculi | Macular Degeneration - pathology | Index Medicus | lipofuscin | scanning laser ophthalmoscope | retinal pigment epithelium | recessive Stargardt disease | quantitative fundus autofluorescence
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14. Full Text In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases
by Cornelis, S.S and Bax, N.M and Zernant, J and Allikmets, R and Fritsche, L.G and Dunnen, J.T. den and Ajmal, M and Hoyng, C.B and Cremers, F.P.M
Human mutation, ISSN 1059-7794, 2017, Volume 38, Issue 4, pp. 400 - 408
retinal dystrophy | meta‐analysis | in silico prediction | genotype‐phenotype correlation | ABCA4 | mild variants | meta-analysis | genotype-phenotype correlation | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Severity of Illness Index | Phenotype | ATP-Binding Cassette Transporters - genetics | Computer Simulation | Gene Frequency | Humans | Alleles | Retinal Dystrophies - pathology | Genotype | Mutation | Retinal Dystrophies - genetics | Retinal degeneration | Analysis | Eye diseases | Genetic disorders | Meta-analysis | Index Medicus
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15. Full Text Cross-sectional and longitudinal assessment of retinal sensitivity in patients with childhood-onset stargardt disease
by Tanna, Preena and Georgiou, Michalis and Aboshiha, Jonathan and Strauss, Rupert W and Kumaran, Neruban and Kalitzeos, Angelos and Weleber, Richard G and Michaelides, Michel
Translational vision science & technology, ISSN 2164-2591, 11/2018, Volume 7, Issue 6, pp. 10 - 10
Endpoints | Visual field | ABCA4 | Clinical trials | Retina | Perimetry | Stargardt disease | STGD1 | Retinal sensitivity
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16. Full Text CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION
by Collison, Frederick T and Lee, Winston and Fishman, Gerald A and Park, Jason C and Zernant, Jana and Mcanany, J. Jason and Allikmets, Rando
Retina (Philadelphia, Pa.), ISSN 0275-004X, 12/2019, Volume 39, Issue 12, pp. 2311 - 2325
Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Index Medicus | p.N1868I | Stargardt disease | foveal sparing | ABCA4
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