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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1989 1
1991 16
1992 31
1993 38
1994 50
1995 38
1996 58
1997 49
1998 53
1999 50
2000 81
2001 100
2002 105
2003 132
2004 167
2005 220
2006 260
2007 301
2008 327
2009 294
2010 348
2011 367
2012 352
2013 356
2014 357
2015 349
2016 312
2017 313
2018 288
2019 224
2020 64
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5,075 results
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Page 1
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.
Schulz HL, Grassmann F, Kellner U, Spital G, Rüther K, Jägle H, Hufendiek K, Rating P, Huchzermeyer C, Baier MJ, Weber BH, Stöhr H. Schulz HL, et al. Invest Ophthalmol Vis Sci. 2017 Jan 1;58(1):394-403. doi: 10.1167/iovs.16-19936. Invest Ophthalmol Vis Sci. 2017. PMID: 28118664 Free PMC article.
PURPOSE: Stargardt disease (STGD1) is an autosomal recessive retinopathy, caused by mutations in the retina-specific ATP-binding cassette transporter (ABCA4) gene. To establish the mutational spectrum and to assess effects of selected dee …
PURPOSE: Stargardt disease (STGD1) is an autosomal recessive retinopathy, caused by mutations in the retina-specific ATP-bi
The role of ABCA7 in Alzheimer's disease: evidence from genomics, transcriptomics and methylomics.
De Roeck A, Van Broeckhoven C, Sleegers K. De Roeck A, et al. Acta Neuropathol. 2019 Aug;138(2):201-220. doi: 10.1007/s00401-019-01994-1. Epub 2019 Mar 22. Acta Neuropathol. 2019. PMID: 30903345 Free PMC article. Review.
Genome-wide association studies (GWAS) originally identified ATP-binding cassette, sub-family A, member 7 (ABCA7), as a novel risk gene of Alzheimer's disease (AD). ...Besides associations with disease status, these genetic and epigenetic ABCA7 …
Genome-wide association studies (GWAS) originally identified ATP-binding cassette, sub-family A, member 7 (ABCA7), as a …
Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants.
Dröge C, Bonus M, Baumann U, Klindt C, Lainka E, Kathemann S, Brinkert F, Grabhorn E, Pfister ED, Wenning D, Fichtner A, Gotthardt DN, Weiss KH, McKiernan P, Puri RD, Verma IC, Kluge S, Gohlke H, Schmitt L, Kubitz R, Häussinger D, Keitel V. Dröge C, et al. J Hepatol. 2017 Dec;67(6):1253-1264. doi: 10.1016/j.jhep.2017.07.004. Epub 2017 Jul 19. J Hepatol. 2017. PMID: 28733223
Eighty-two percent of patients with at least one disease-causing mutation in either of the three genes were children. One or more common polymorphism(s) were found in FIC1 in 35.3%, BSEP in 64.3% and MDR3 in 72.6% of patients without disease-causing mutati
Eighty-two percent of patients with at least one disease-causing mutation in either of the three genes were children. One or more com …
Cellular Processing of the ABCG2 Transporter-Potential Effects on Gout and Drug Metabolism.
Mózner O, Bartos Z, Zámbó B, Homolya L, Hegedűs T, Sarkadi B. Mózner O, et al. Cells. 2019 Oct 8;8(10):1215. doi: 10.3390/cells8101215. Cells. 2019. PMID: 31597297 Free PMC article. Review.
In this paper, we overview the key cellular pathways involved in the processing and trafficking of large membrane proteins, focusing on ABC transporters. We discuss the information available for disease-causing polymorphic variants and selected mutations
In this paper, we overview the key cellular pathways involved in the processing and trafficking of large membrane proteins, focusing on A
ABCG5/ABCG8 in cholesterol excretion and atherosclerosis.
Yu XH, Qian K, Jiang N, Zheng XL, Cayabyab FS, Tang CK. Yu XH, et al. Clin Chim Acta. 2014 Jan 20;428:82-8. doi: 10.1016/j.cca.2013.11.010. Epub 2013 Nov 16. Clin Chim Acta. 2014. PMID: 24252657 Review.
ATP-binding cassette (ABC) transporters G5 (ABCG5) and G8 (ABCG8) form an obligate heterodimer that limits intestinal absorption and facilitates biliary secretion of cholesterol and phytosterols. ...Mutations in either of the two genes ca
ATP-binding cassette (ABC) transporters G5 (ABCG5) and G8 (ABCG8) form an obligate heterodimer that limit
Not only P-glycoprotein: Amplification of the ABCB1-containing chromosome region 7q21 confers multidrug resistance upon cancer cells by coordinated overexpression of an assortment of resistance-related proteins.
Genovese I, Ilari A, Assaraf YG, Fazi F, Colotti G. Genovese I, et al. Drug Resist Updat. 2017 May;32:23-46. doi: 10.1016/j.drup.2017.10.003. Epub 2017 Oct 16. Drug Resist Updat. 2017. PMID: 29145976 Free article. Review.
Clearly however, additional mechanisms such as single nucleotide polymorphisms (SNPs) and epigenetic modifications have shown a role in the overexpression of ABCB1 and of other MDR efflux pumps. However, notwithstanding the design of 4 generations of ABCB1 inhibitors and t …
Clearly however, additional mechanisms such as single nucleotide polymorphisms (SNPs) and epigenetic modifications have shown a role …
Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland.
Tracewska AM, Kocyła-Karczmarewicz B, Rafalska A, Murawska J, Jakubaszko-Jablonska J, Rydzanicz M, Stawiński P, Ciara E, Khan MI, Henkes A, Hoischen A, Gilissen C, van de Vorst M, Cremers FPM, Płoski R, Chrzanowska KH. Tracewska AM, et al. Genes (Basel). 2019 Nov 21;10(12):959. doi: 10.3390/genes10120959. Genes (Basel). 2019. PMID: 31766579 Free PMC article.
Mutations in retina-specific ATP-binding cassette transporter 4 (ABCA4) are responsible for over 95% of cases of Stargardt disease (STGD), as well as a minor proportion of retinitis pigmentosa (RP) and cone-rod dystrophy cases (CRD). ...All iden
Mutations in retina-specific ATP-binding cassette transporter 4 (ABCA4) are responsible for over 95% of c
Identification of variant ABC-transporter genes among Onchocerca volvulus collected from ivermectin-treated and untreated patients in Ghana, West Africa.
Ardelli BF, Prichard RK. Ardelli BF, et al. Ann Trop Med Parasitol. 2004 Jun;98(4):371-84. doi: 10.1179/000349804225003415. Ann Trop Med Parasitol. 2004. PMID: 15228718
Treatment with ivermectin (IVM) is known to cause a loss of polymorphism at certain loci of the beta-tubulin, gamma-aminobutyric-acid-receptor, glutamate-gated-chloride-channel and ATP-binding-cassette (ABC) transporter genes of IVM-resis …
Treatment with ivermectin (IVM) is known to cause a loss of polymorphism at certain loci of the beta-tubulin, gamma-aminobutyric-acid …
Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease.
De Roeck A, Van den Bossche T, van der Zee J, Verheijen J, De Coster W, Van Dongen J, Dillen L, Baradaran-Heravi Y, Heeman B, Sanchez-Valle R, Lladó A, Nacmias B, Sorbi S, Gelpi E, Grau-Rivera O, Gómez-Tortosa E, Pastor P, Ortega-Cubero S, Pastor MA, Graff C, Thonberg H, Benussi L, Ghidoni R, Binetti G, de Mendonça A, Martins M, Borroni B, Padovani A, Almeida MR, Santana I, Diehl-Schmid J, Alexopoulos P, Clarimon J, Lleó A, Fortea J, Tsolaki M, Koutroumani M, Matěj R, Rohan Z, De Deyn P, Engelborghs S, Cras P, Van Broeckhoven C, Sleegers K; European Early-Onset Dementia (EU EOD) consortium. De Roeck A, et al. Acta Neuropathol. 2017 Sep;134(3):475-487. doi: 10.1007/s00401-017-1714-x. Epub 2017 Apr 27. Acta Neuropathol. 2017. PMID: 28447221 Free PMC article.
Premature termination codon (PTC) mutations in the ATP-Binding Cassette, Sub-Family A, Member 7 gene (ABCA7) have recently been identified as intermediate-to-high penetrant risk factor for late-onset Alzheimer's disease (LOAD). ...In conclusion, …
Premature termination codon (PTC) mutations in the ATP-Binding Cassette, Sub-Family A, Member 7 gene (ABCA7) hav …
Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations.
Flanagan SE, Patch AM, Ellard S. Flanagan SE, et al. Genet Test Mol Biomarkers. 2010 Aug;14(4):533-7. doi: 10.1089/gtmb.2010.0036. Genet Test Mol Biomarkers. 2010. PMID: 20642364

Both programs were significantly better at predicting loss-of-function mutations than gain-of-function mutations (SIFT, p = 0.001; PolyPhen, p < or = 0.0001). ...Eighty-eight percent of the mutations affected highly conserved residues, while all of the ben

Both programs were significantly better at predicting loss-of-function mutations than gain-of-function mutations (SIFT, p = 0. …
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