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Select item 111732101.

Novel and Recurrent Copy Number Variants in ABCA4-Associated Retinopathy

Zelia Corradi, Claire-Marie Dhaenens, Olivier Grunewald, Ipek Selen Kocabaş, Isabelle Meunier, Sandro Banfi, Marianthi Karali, Frans P. M. Cremers, Rebekkah J. Hitti-Malin

Int J Mol Sci. 2024 Jun; 25(11): 5940. Published online 2024 May 29. doi: 10.3390/ijms25115940

PMCID:: PMC11173210

Abstract Article PDF–1.2M

Select item 107842252.

Protein modeling and in silico analysis to assess pathogenicity of ABCA4 variants in patients with inherited retinal disease

Senem Cevik, Nutsuchar Wangtiraumnuay, Kristof Van Schelvergem, Mai Tsukikawa, Jenina Capasso, Subhasis B. Biswas, Barry Bodt, Alex V. Levin, Esther Biswas-Fiss

Mol Vis. 2023; 29: 217–233. Published online 2023 Oct 25.

PMCID:: PMC10784225

Abstract Article PDF–1.0M

Select item 106714883.

Major Contribution of c.[1622T>C;3113C>T] Complex Allele and c.5882G>A Variant in ABCA4-Related Retinal Dystrophy in an Eastern European Population

Vitaly V. Kadyshev, Ekaterina A. Alekseeva, Vladimir V. Strelnikov, Anna A. Stepanova, Alexander V. Polyakov, Andrey V. Marakhonov, Sergey I. Kutsev, Rena A. Zinchenko

Int J Mol Sci. 2023 Nov; 24(22): 16231. Published online 2023 Nov 12. doi: 10.3390/ijms242216231

PMCID:: PMC10671488

Abstract Article PDF–2.1M

Select item 105861964.

Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing

Melita Kaltak, Zelia Corradi, Rob W J Collin, Jim Swildens, Frans P M Cremers

Hum Mol Genet. 2023 Nov 1; 32(21): 3078–3089. Published online 2023 Aug 9. doi: 10.1093/hmg/ddad129

PMCID:: PMC10586196

Abstract Article PDF–1.2M

Select item 105167655.

ABCA4 Variant c.5714+5G>A in Trans With Null Alleles Results in Primary RPE Damage

Jana Sajovic, Andrej Meglič, Zelia Corradi, Mubeen Khan, Aleš Maver, Martina Jarc Vidmar, Marko Hawlina, Frans P. M. Cremers, Ana Fakin

Invest Ophthalmol Vis Sci. 2023 Sep; 64(12): 33. Published online 2023 Sep 20. doi: 10.1167/iovs.64.12.33

PMCID:: PMC10516765

Abstract Article PDF–3.3M

Select item 104956106.

Clinical Observation and Genotype-Phenotype Analysis of ABCA4-Related Hereditary Retinal Degeneration before Gene Therapy

Xuan Xiao, Lin Ye, Changzheng Chen, Hongmei Zheng, Jiajia Yuan

Curr Gene Ther. 2022 Jun 1; 22(4): 342–351. Published online 2022 Jun 1. doi: 10.2174/1566523222666220216101539

PMCID:: PMC10495610

Abstract Article PDF–6.7M

Select item 104285687.

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

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

J Transl Med. 2023; 21: 546. Published online 2023 Aug 16. doi: 10.1186/s12967-023-04406-x

PMCID:: PMC10428568

Abstract Article PDF–2.1M

Select item 103753858.

Association Between Genotype and Phenotype Severity in ABCA4-Associated Retinopathy

Lorenzo Bianco, Alessandro Arrigo, Alessio Antropoli, Maria Pia Manitto, Elisabetta Martina, Emanuela Aragona, Francesco Bandello, Maurizio Battaglia Parodi

JAMA Ophthalmol. 2023 Sep; 141(9): 826–833. Published online 2023 Jul 27. doi: 10.1001/jamaophthalmol.2023.3188

PMCID:: PMC10375385

Abstract Article

Select item 102566989.

Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients

Laura Whelan, Adrian Dockery, Kirk A. J. Stephenson, Julia Zhu, Ella Kopčić, Iris J. M. Post, Mubeen Khan, Zelia Corradi, Niamh Wynne, James J. O’ Byrne, Emma Duignan, Giuliana Silvestri, Susanne Roosing, Frans P. M. Cremers, David J. Keegan, Paul F. Kenna, G. Jane Farrar

Sci Rep. 2023; 13: 9380. Published online 2023 Jun 9. doi: 10.1038/s41598-023-35889-9

PMCID:: PMC10256698

Abstract Article PDF–1.7M

Select item 1017901210.

Role of the ABCA4 Gene Expression in the Clearance of Toxic Vitamin A Derivatives in Human Hair Follicle Stem Cells and Keratinocytes

Aneta Ścieżyńska, Krzysztof Łuszczyński, Marcin Radziszewski, Michał Komorowski, Marta Soszyńska, Natalia Krześniak, Kateryna Shevchenko, Anna Lutyńska, Jacek Malejczyk

Int J Mol Sci. 2023 May; 24(9): 8275. Published online 2023 May 5. doi: 10.3390/ijms24098275

PMCID:: PMC10179012

Abstract Article PDF–3.8M

Select item 1012713611.

Retinal-phospholipid Schiff-base conjugates and their interaction with ABCA4, the ABC transporter associated with Stargardt disease

Tongzhou Xu, Laurie L. Molday, Robert S. Molday

J Biol Chem. 2023 May; 299(5): 104614. Published online 2023 Mar 16. doi: 10.1016/j.jbc.2023.104614

PMCID:: PMC10127136

Abstract Article PDF–2.5M

Select item 979001312.

Functional characterization of ABCA4 genetic variants related to Stargardt disease

Bo Min Kim, Hyo Sook Song, Jin-Young Kim, Eun Young Kwon, Seung Yeon Ha, Minsuk Kim, Ji Ha Choi

Sci Rep. 2022; 12: 22282. Published online 2022 Dec 24. doi: 10.1038/s41598-022-26912-6

PMCID:: PMC9790013

Abstract Article PDF–1.5M

Select item 952733013.

Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography

Sophie L. Glinton, Antonio Calcagni, Watjana Lilaonitkul, Nikolas Pontikos, Sandra Vermeirsch, Gongyu Zhang, Gavin Arno, Siegfried K. Wagner, Michel Michaelides, Pearse A. Keane, Andrew R. Webster, Omar A. Mahroo, Anthony G. Robson

Transl Vis Sci Technol. 2022 Sep; 11(9): 34. Published online 2022 Sep 30. doi: 10.1167/tvst.11.9.34

PMCID:: PMC9527330

Abstract Article PDF–3.8M

Select item 947545314.

The N⁶-methyladenosine-mediated lncRNA WEE2-AS1 promotes glioblastoma progression by stabilizing RPN2

Boyan Li, Rongrong Zhao, Wei Qiu, Ziwen Pan, Shulin Zhao, Yanhua Qi, Jiawei Qiu, Shouji Zhang, Qindong Guo, Yang Fan, Hao Xu, Ming Li, Gang Li, Hao Xue

Theranostics. 2022; 12(14): 6363–6379. Published online 2022 Aug 29. doi: 10.7150/thno.74600

PMCID:: PMC9475453

Abstract Article PDF–4.4M

Select item 931645115.

The Role of the Choroid in Stargardt Disease

Solmaz Abdolrahimzadeh, Martina Formisano, Mariachiara Di Pippo, Manuel Lodesani, Andrew John Lotery

Int J Mol Sci. 2022 Jul; 23(14): 7607. Published online 2022 Jul 9. doi: 10.3390/ijms23147607

PMCID:: PMC9316451

Abstract Article PDF–998K

Select item 918599616.

Phenotype-Based Genetic Analysis Reveals Missing Heritability of ABCA4-Related Retinopathy: Deep Intronic Variants and Copy Number Variations

Lu Tian, Chunjie Chen, Yuning Song, Xiaohui Zhang, Ke Xu, Yue Xie, Zi-Bing Jin, Yang Li

Invest Ophthalmol Vis Sci. 2022 Jun; 63(6): 5. Published online 2022 Jun 3. doi: 10.1167/iovs.63.6.5

PMCID:: PMC9185996

Abstract Article PDF–2.8M

Select item 905556417.

ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease

Zelia Corradi, Manar Salameh, Mubeen Khan, Elise Héon, Ketan Mishra, Rebekkah J. Hitti-Malin, Yahya AlSwaiti, Alice Aslanian, Eyal Banin, Brian P. Brooks, Wadih M. Zein, Robert B. Hufnagel, Susanne Roosing, Claire‐Marie Dhaenens, Dror Sharon, Frans P. M. Cremers, Alaa AlTalbishi

Invest Ophthalmol Vis Sci. 2022 Apr; 63(4): 20. Published online 2022 Apr 27. doi: 10.1167/iovs.63.4.20

PMCID:: PMC9055564

Abstract Article PDF–7.6M

Select item 885582818.

Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates

Maximilian Pfau, Catherine A. Cukras, Laryssa A. Huryn, Wadih M. Zein, Ehsan Ullah, Marisa P. Boyle, Amy Turriff, Michelle A. Chen, Aarti S. Hinduja, Hermann E.A. Siebel, Robert B. Hufnagel, Brett G. Jeffrey, Brian P. Brooks

JCI Insight. 2022 Jan 25; 7(2): e155373. Published online 2022 Jan 25. doi: 10.1172/jci.insight.155373

PMCID:: PMC8855828

Abstract Article PDF–3.3M

Select item 881927919.

Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies

Marta Del Pozo-Valero, Rosa Riveiro-Alvarez, Inmaculada Martin-Merida, Fiona Blanco-Kelly, Saoud Swafiri, Isabel Lorda-Sanchez, Maria José Trujillo-Tiebas, Ester Carreño, Belen Jimenez-Rolando, Blanca Garcia-Sandoval, Marta Corton, Almudena Avila-Fernandez, Carmen Ayuso

Invest Ophthalmol Vis Sci. 2022 Feb; 63(2): 11. Published online 2022 Feb 4. doi: 10.1167/iovs.63.2.11

PMCID:: PMC8819279

Abstract Article PDF–934K

Select item 870138620.

Genotype-Specific Lesion Growth Rates in Stargardt Disease

Rachael C. Heath Jeffery, Jennifer A. Thompson, Johnny Lo, Tina M. Lamey, Terri L. McLaren, Ian L. McAllister, Ian J. Constable, John N. De Roach, Fred K. Chen

Genes (Basel) 2021 Dec; 12(12): 1981. Published online 2021 Dec 14. doi: 10.3390/genes12121981