Results 11 to 20 of about 5,408 (199)

Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function

Journal of Translational Medicine, 2023
Background ABCA4, the gene implicated in Stargardt disease (STGD1), contains 50 exons, of which 17 contain multiples of three nucleotides. The impact of in-frame exon skipping is yet to be determined.
Melita Kaltak, Rocio Blanco-Garavito, Laurie L. Molday, Claire-Marie Dhaenens, Eric E. Souied, Gerard Platenburg, Jim Swildens, Robert S. Molday, Frans P. M. Cremers   +8 more
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ABCA4-Associated Stargardt Disease

Klinische Monatsblätter für Augenheilkunde, 2020
Contains fulltext : 218259.pdf (Publisher’s version ) (Open Access)Autosomal recessive Stargardt disease (STGD1) is associated with variants in the ABCA4 gene.
Khan, M., Cremers, F.P.M., Cremers, F.
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Gene Therapy of ABCA4-Associated Diseases. [PDF]

Cold Spring Harbor Perspectives in Medicine, 2015
The ATP-binding cassette (ABC) transporter gene, ABCA4 (ABCR), was characterized in 1997 as the causal gene for autosomal recessive Stargardt disease (STGD1).
AURICCHIO, ALBERTO, Trapani I, Allikmets R.   +2 more
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Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability [PDF]

HGG Advances, 2023
Summary: The ABCA4 gene is the most frequently mutated Mendelian retinopathy-associated gene. Biallelic variants lead to a variety of phenotypes, however, for thousands of cases the underlying variants remain unknown.
Zelia Corradi, Mubeen Khan, Rebekkah Hitti-Malin, Ketan Mishra, Laura Whelan, Stéphanie S. Cornelis, Carel B. Hoyng, Kati Kämpjärvi, Caroline C.W. Klaver, Petra Liskova, Heidi Stöhr, Bernhard H.F. Weber, Sandro Banfi, G. Jane Farrar, Dror Sharon, Jana Zernant, Rando Allikmets, Claire-Marie Dhaenens, Frans P.M. Cremers   +18 more
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Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant

Human Mutation, 2015
Item does not contain fulltextVariants in ABCA4 are responsible for autosomal-recessive Stargardt disease and cone-rod dystrophy. Sequence analysis of ABCA4 exons previously revealed one causative variant in each of 45 probands. To identify the "missing"
Thiadens, A.A.H.J., Phan, M, Stone, EM, Zonneveld-Vrieling, MN, Cremers, F.P.M., Mutlu, M., Mutlu, M, Braun, T.A., Hoyng, C.B., Hoefsloot, LH, Klevering, BJ, Born, L.I. van den, Westeneng-van Haaften, S.C., Westeneng-van Haaften, C, Bax, N.M., de Wijs, I, Roosing, S, Klaver, C.C., Braun, TA, Klaver, Caroline, Klevering, B.J., Hoefsloot, L.H., Hoyng, C, Sangermano, R., Sangermano, R, Thiadens, Alberta, Cremers, FPM, Stone, E.M., Wijs, I. de, Hollander, AI, Phan, M., Zonneveld-Vrieling, M.N., Bax, NM, Hollander, A.I. den, van den Born, LI, Roosing, S.   +35 more
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ABCA4 Gene Screening by Next-Generation Sequencing in a British CohortNext-Generation Sequencing of ABCA4 in British [PDF]

, 2013
PurposeWe applied a recently reported next-generation sequencing (NGS) strategy for screening the ABCA4 gene in a British cohort with ABCA4-associated disease and report novel mutations.MethodsWe identified 79 patients with a clinical diagnosis of ABCA4 ...
Webster, Andrew R, Zernant, Jana, Ozawa, Yoko, Allikmets, Rando, Fujinami, Kaoru, Wright, Genevieve A, Moore, Anthony T, Chana, Ravinder K, Tsubota, Kazuo, Tsunoda, Kazushige, Michaelides, Michel   +10 more
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ABCA4‐Associated Retinal Degeneration in 8 Families From the Three Provinces of Northeast China: Identification and Characterization of Potentially Novel Variants

Molecular Genetics & Genomic Medicine
Background This study characterizes the clinical and genetic features of ABCA4‐associated inherited retinal diseases (IRDs) in eight unrelated probands from the three provinces of Northeast China. All patients harbored biallelic pathogenic ABCA4 variants,
Nian Li, Linlin Su, Yue Ren, Ye Liu, Jiayuan Ge, Henan Sun, Zhuoshi Wang   +6 more
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Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies [PDF]

Investigative Ophthalmology & Visual Science
Purpose: Biallelic pathogenic variants in the gene encoding the ATP-binding cassette transporter ABCA4 are the leading cause of irreversible vision loss in inherited retinal dystrophies (IRDs).
Knappskog, Per Morten, Bredrup, Cecilie, Holtan, Josephine Prener, Aukrust, Ingvild, Molday, Laurie, Molday, Robert S., Aslaksen, Sigrid, Rødahl, Eyvind, Jansson, Ragnhild Wivestad, Bragadottir, Ragnheidur, Berland, Siren, Bratland, Eirik   +11 more
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QR-1011 restores defective ABCA4 splicing caused by multiple severe ABCA4 variants underlying Stargardt disease [PDF]

Scientific Reports
Stargardt disease type 1 (STGD1), the most common form of hereditary macular dystrophy, can be caused by biallelic combinations of over 2200 variants in the ABCA4 gene. This leads to reduced or absent ABCA4 protein activity, resulting in toxic metabolite
Melita Kaltak, Petra de Bruijn, Willemijn van Leeuwen, Gerard Platenburg, Frans P. M. Cremers, Rob W. J. Collin, Jim Swildens   +6 more
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Reduced macular function in ABCA4 carriers. [PDF]

Molecular vision, 2015
To study retinal function and morphology in ABCA4 carriers to investigate if ABCA4 carriership is associated with any functional or morphological changes and, if so, to explore whether certain mutations may be associated with particularly severe ...
Ulrika Kjellström, Kjellström, Ulrika
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