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Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease
Lee, Winston, Zernant, Jana, Nagasaki, Takayuki, Molday, Laurie L, Su, Pei-Yin, Fishman, Gerald A, Tsang, Stephen H, Molday, Robert S, Allikmets, Rando
Published in Human molecular genetics (26.06.2021)
Published in Human molecular genetics (26.06.2021)
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Journal Article
Lung disease caused by ABCA3 mutations
Kröner, Carolin, Wittmann, Thomas, Reu, Simone, Teusch, Veronika, Klemme, Mathias, Rauch, Daniela, Hengst, Meike, Kappler, Matthias, Cobanoglu, Nazan, Sismanlar, Tugba, Aslan, Ayse T, Campo, Ilaria, Proesmans, Marijke, Schaible, Thomas, Terheggen-Lagro, Susanne, Regamey, Nicolas, Eber, Ernst, Seidenberg, Jürgen, Schwerk, Nicolaus, Aslanidis, Charalampos, Lohse, Peter, Brasch, Frank, Zarbock, Ralf, Griese, Matthias
Published in Thorax (01.03.2017)
Published in Thorax (01.03.2017)
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Journal Article
The association of ABC proteins with multidrug resistance in cancer
Marques, Andrezza Viviany Lourenço, Ruginsk, Bruna Estelita, Prado, Larissa de Oliveira, de Lima, Diogo Eugênio, Daniel, Isabelle Watanabe, Moure, Vivian Rotuno, Valdameri, Glaucio
Published in Biochimica et biophysica acta. Molecular cell research (01.02.2025)
Published in Biochimica et biophysica acta. Molecular cell research (01.02.2025)
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Journal Article
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease
Braun, Terry A., Mullins, Robert F., Wagner, Alex H., Andorf, Jeaneen L., Johnston, Rebecca M., Bakall, Benjamin B., Deluca, Adam P., Fishman, Gerald A., Lam, Byron L., Weleber, Richard G., Cideciyan, Artur V., Jacobson, Samuel G., Sheffield, Val C., Tucker, Budd A., Stone, Edwin M.
Published in Human molecular genetics (20.12.2013)
Published in Human molecular genetics (20.12.2013)
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Journal Article
Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles
Runhart, Esmee H., Valkenburg, Dyon, Cornelis, Stéphanie S., Khan, Mubeen, Sangermano, Riccardo, Albert, Silvia, Bax, Nathalie M., Astuti, Galuh D. N., Gilissen, Christian, Pott, Jan-Willem R., Verheij, Joke B. G. M., Blokland, Ellen A. W., Cremers, Frans P. M., van den Born, L. Ingeborgh, Hoyng, Carel B.
Published in Investigative ophthalmology & visual science (01.10.2019)
Published in Investigative ophthalmology & visual science (01.10.2019)
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Journal Article
Resequencing Study Confirms That Host Defense and Cell Senescence Gene Variants Contribute to the Risk of Idiopathic Pulmonary Fibrosis
Moore, Camille, Blumhagen, Rachel Z., Yang, Ivana V., Walts, Avram, Powers, Julie, Walker, Tarik, Bishop, Makenna, Russell, Pamela, Vestal, Brian, Cardwell, Jonathan, Markin, Cheryl R., Mathai, Susan K., Schwarz, Marvin I., Steele, Mark P., Lee, Joyce, Brown, Kevin K., Loyd, James E., Crapo, James D., Silverman, Edwin K., Cho, Michael H., James, Judith A., Guthridge, Joel M., Cogan, Joy D., Kropski, Jonathan A., Swigris, Jeffrey J., Bair, Carol, Kim, Dong Soon, Ji, Wonjun, Kim, Hocheol, Song, Jin Woo, Maier, Lisa A., Pacheco, Karin A., Hirani, Nikhil, Poon, Azin S., Li, Feng, Jenkins, R. Gisli, Braybrooke, Rebecca, Saini, Gauri, Maher, Toby M., Molyneaux, Philip L., Saunders, Peter, Zhang, Yingze, Gibson, Kevin F., Kass, Daniel J., Rojas, Mauricio, Sembrat, John, Wolters, Paul J., Collard, Harold R., Sundy, John S., O’Riordan, Thomas, Strek, Mary E., Noth, Imre, Ma, Shwu-Fan, Porteous, Mary K., Kreider, Maryl E., Patel, Namrata B., Inoue, Yoshikazu, Hirose, Masaki, Arai, Toru, Akagawa, Shinobu, Eickelberg, Oliver, Fernandez, Isis Enlil, Behr, Jürgen, Mogulkoc, Nesrin, Corte, Tamera J., Glaspole, Ian, Tomassetti, Sara, Ravaglia, Claudia, Poletti, Venerino, Crestani, Bruno, Borie, Raphael, Kannengiesser, Caroline, Parfrey, Helen, Fiddler, Christine, Rassl, Doris, Molina-Molina, Maria, Machahua, Carlos, Worboys, Ana Montes, Gudmundsson, Gunnar, Isaksson, Helgi J., Lederer, David J., Podolanczuk, Anna J., Montesi, Sydney B., Bendstrup, Elisabeth, Danchel, Vivi, Selman, Moises, Pardo, Annie, Henry, Michael T., Keane, Michael P., Doran, Peter, Vašáková, Martina, Sterclova, Martina, Ryerson, Christopher J., Wilcox, Pearce G., Okamoto, Tsukasa, Furusawa, Haruhiko, Miyazaki, Yasunari, Laurent, Geoffrey, Baltic, Svetlana, Prele, Cecilia
Published in American journal of respiratory and critical care medicine (15.07.2019)
Published in American journal of respiratory and critical care medicine (15.07.2019)
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Journal Article
Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease
Fujinami, Kaoru, Zernant, Jana, Chana, Ravinder K., Wright, Genevieve A., Tsunoda, Kazushige, Ozawa, Yoko, Tsubota, Kazuo, Robson, Anthony G., Holder, Graham E., Allikmets, Rando, Michaelides, Michel, Moore, Anthony T.
Published in Ophthalmology (Rochester, Minn.) (01.02.2015)
Published in Ophthalmology (Rochester, Minn.) (01.02.2015)
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Journal Article
ABCA3-related interstitial lung disease beyond infancy
Li, Yang, Seidl, Elias, Knoflach, Katrin, Gothe, Florian, Forstner, Maria Elisabeth, Michel, Katarzyna, Pawlita, Ingo, Gesenhues, Florian, Sattler, Franziska, Yang, Xiaohua, Kroener, Carolin, Reu-Hofer, Simone, Ley-Zaporozhan, Julia, Kammer, Birgit, Krüger-Stollfuß, Ingrid, Dinkel, Julien, Carlens, Julia, Wetzke, Martin, Moreno-Galdó, Antonio, Torrent-Vernetta, Alba, Lange, Joanna, Krenke, Katarzyna, Rumman, Nisreen, Mayell, Sarah, Sismanlar, Tugba, Aslan, Ayse, Regamey, Nicolas, Proesmans, Marijke, Stehling, Florian, Naehrlich, Lutz, Ayse, Kilinc, Becker, Sebastian, Koerner-Rettberg, Cordula, Plattner, Erika, Manali, Effrosyni D, Papiris, Spyridon A, Campo, Ilaria, Kappler, Matthias, Schwerk, Nicolaus, Griese, Matthias
Published in Thorax (01.06.2023)
Published in Thorax (01.06.2023)
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Journal Article
Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease
Sangermano, Riccardo, Bax, Nathalie M., Bauwens, Miriam, van den Born, L. Ingeborgh, De Baere, Elfride, Garanto, Alejandro, Collin, Rob W.J., Goercharn-Ramlal, Angelique S.A., den Engelsman-van Dijk, Anke H.A., Rohrschneider, Klaus, Hoyng, Carel B., Cremers, Frans P.M., Albert, Silvia
Published in Ophthalmology (Rochester, Minn.) (01.06.2016)
Published in Ophthalmology (Rochester, Minn.) (01.06.2016)
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Journal Article
Near Infrared Autofluorescence Lifetime Imaging of Human Retinal Pigment Epithelium Using Adaptive Optics Scanning Light Ophthalmoscopy
Kunala, Karteek, Tang, Janet A. H., Bowles Johnson, Kristen E., Huynh, Khang T., Parkins, Keith, Kim, Hye-Jin, Yang, Qiang, Sparrow, Janet R., Hunter, Jennifer J.
Published in Investigative ophthalmology & visual science (01.05.2024)
Published in Investigative ophthalmology & visual science (01.05.2024)
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Journal Article
Breast Cancer Resistance Protein (ABCG2) in Clinical Pharmacokinetics and Drug Interactions: Practical Recommendations for Clinical Victim and Perpetrator Drug-Drug Interaction Study Design
Lee, Caroline A, O’Connor, Meeghan A, Ritchie, Tasha K, Galetin, Aleksandra, Cook, Jack A, Ragueneau-Majlessi, Isabelle, Ellens, Harma, Feng, Bo, Taub, Mitchell E, Paine, Mary F, Polli, Joseph W, Ware, Joseph A, Zamek-Gliszczynski, Maciej J
Published in Drug metabolism and disposition (01.04.2015)
Published in Drug metabolism and disposition (01.04.2015)
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Journal Article
Structural variation detection and association analysis of whole‐genome‐sequence data from 16,543 Alzheimer's disease sequencing project subjects
Wang, Hui, Dombroski, Beth A., Cheng, Po‐Liang, Tucci, Albert, Si, Ya‐Qin, Farrell, John J., Tzeng, Jung‐Ying, Leung, Yuk Yee, Malamon, John S., Wang, Li‐San, Vardarajan, Badri N., Farrer, Lindsay A., Schellenberg, Gerard D., Lee, Wan‐Ping
Published in Alzheimer's & dementia (01.06.2025)
Published in Alzheimer's & dementia (01.06.2025)
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Journal Article
Prospective Cohort Study of Childhood-Onset Stargardt Disease: Fundus Autofluorescence Imaging, Progression, Comparison with Adult-Onset Disease, and Disease Symmetry
Georgiou, Michalis, Kane, Thomas, Tanna, Preena, Bouzia, Zaina, Singh, Navjit, Kalitzeos, Angelos, Strauss, Rupert W., Fujinami, Kaoru, Michaelides, Michel
Published in American journal of ophthalmology (01.03.2020)
Published in American journal of ophthalmology (01.03.2020)
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Journal Article
Rosuvastatin pharmacokinetics and pharmacogenetics in Caucasian and Asian subjects residing in the United States
Birmingham, Bruce K., Bujac, Sarah R., Elsby, Robert, Azumaya, Connie T., Zalikowski, Julie, Chen, Yusong, Kim, Kenneth, Ambrose, Helen J.
Published in European journal of clinical pharmacology (01.03.2015)
Published in European journal of clinical pharmacology (01.03.2015)
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Journal Article
ABCG2: A perspective
Robey, Robert W., To, Kenneth K.K., Polgar, Orsolya, Dohse, Marius, Fetsch, Patricia, Dean, Michael, Bates, Susan E.
Published in Advanced drug delivery reviews (31.01.2009)
Published in Advanced drug delivery reviews (31.01.2009)
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Journal Article
Spatial Regulation of ABCG25, an ABA Exporter, Is an Important Component of the Mechanism Controlling Cellular ABA Levels
Park, Youngmin, Xu, Zheng-Yi, Kim, Soo Youn, Lee, Jihyeong, Choi, Bongsoo, Lee, Juhun, Kim, Hyeran, Sim, Hee-Jung, Hwang, Inhwan
Published in The Plant cell (01.10.2016)
Published in The Plant cell (01.10.2016)
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Journal Article
Impact of ABCG2 and SLCO1B1 polymorphisms on pharmacokinetics of rosuvastatin, atorvastatin and simvastatin acid in Caucasian and Asian subjects: a class effect?
Birmingham, Bruce K., Bujac, Sarah R., Elsby, Robert, Azumaya, Connie T., Wei, Cheryl, Chen, Yusong, Mosqueda-Garcia, Rogelio, Ambrose, Helen J.
Published in European journal of clinical pharmacology (01.03.2015)
Published in European journal of clinical pharmacology (01.03.2015)
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Journal Article
DNA Methylation of Lipid-Related Genes Affects Blood Lipid Levels
Pfeiffer, Liliane, Wahl, Simone, Pilling, Luke C., Reischl, Eva, Sandling, Johanna K., Kunze, Sonja, Holdt, Lesca M., Kretschmer, Anja, Schramm, Katharina, Adamski, Jerzy, Klopp, Norman, Illig, Thomas, Hedman, Åsa K., Roden, Michael, Hernandez, Dena G., Singleton, Andrew B., Thasler, Wolfgang E., Grallert, Harald, Gieger, Christian, Herder, Christian, Teupser, Daniel, Meisinger, Christa, Spector, Timothy D., Kronenberg, Florian, Prokisch, Holger, Melzer, David, Peters, Annette, Deloukas, Panos, Ferrucci, Luigi, Waldenberger, Melanie
Published in Circulation. Cardiovascular genetics (01.04.2015)
Published in Circulation. Cardiovascular genetics (01.04.2015)
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Journal Article
Quantitative Fundus Autofluorescence in ABCA4-Related Retinopathy -Functional Relevance and Genotype-Phenotype Correlation
Müller, Philipp L., Gliem, Martin, McGuinnes, Myra, Birtel, Johannes, Holz, Frank G., Charbel Issa, Peter
Published in American journal of ophthalmology (01.02.2021)
Published in American journal of ophthalmology (01.02.2021)
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Journal Article
Pharmacokinetic interaction study of sulphasalazine in healthy subjects and the impact of curcumin as an in vivo inhibitor of BCRP
Kusuhara, Hiroyuki, Furuie, Hidetoshi, Inano, Akihiro, Sunagawa, Akihiro, Yamada, Saiko, Wu, Chunyong, Fukizawa, Shinya, Morimoto, Nozomi, Ieiri, Ichiro, Morishita, Mariko, Sumita, Kiminobu, Mayahara, Hiroshi, Fujita, Takuya, Maeda, Kazuya, Sugiyama, Yuichi
Published in British journal of pharmacology (01.07.2012)
Published in British journal of pharmacology (01.07.2012)
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Journal Article