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

Year Number of Results
1997 4
1998 9
1999 10
2000 13
2001 12
2002 11
2003 10
2004 11
2005 13
2006 5
2007 17
2008 18
2009 20
2010 18
2011 20
2012 26
2013 32
2014 41
2015 35
2016 31
2017 35
2018 60
2019 39
2020 51
2021 50
2022 42
2023 43
2024 14

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614 results

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Page 1
Structure and function of ABCA4 and its role in the visual cycle and Stargardt macular degeneration.
Molday RS, Garces FA, Scortecci JF, Molday LL. Molday RS, et al. Prog Retin Eye Res. 2022 Jul;89:101036. doi: 10.1016/j.preteyeres.2021.101036. Epub 2021 Dec 23. Prog Retin Eye Res. 2022. PMID: 34954332 Review.
This ensures that all-trans-retinal and excess 11-cis-retinal are efficiently cleared from photoreceptor cells thereby preventing the accumulation of toxic retinoid compounds. Loss-of-function mutations in the gene encoding ABCA4 cause autosomal recessive Stargardt macu …
This ensures that all-trans-retinal and excess 11-cis-retinal are efficiently cleared from photoreceptor cells thereby preventing the accumu …
Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.
Zernant J, Lee W, Collison FT, Fishman GA, Sergeev YV, Schuerch K, Sparrow JR, Tsang SH, Allikmets R. Zernant J, et al. J Med Genet. 2017 Jun;54(6):404-412. doi: 10.1136/jmedgenet-2017-104540. Epub 2017 Apr 26. J Med Genet. 2017. PMID: 28446513 Free PMC article.
BACKGROUND: Variation in the ABCA4 gene is causal for, or associated with, a wide range of phenotypes from early onset Mendelian retinal dystrophies to late-onset complex disorders such as age-related macular degeneration (AMD). ...This study was designed to …
BACKGROUND: Variation in the ABCA4 gene is causal for, or associated with, a wide range of phenotypes from early onset Mendelian reti …
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P. Birtel J, et al. Sci Rep. 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0. Sci Rep. 2018. PMID: 29555955 Free PMC article.
Macular and cone/cone-rod dystrophies (MD/CCRD) demonstrate a broad genetic and phenotypic heterogeneity, with retinal alterations solely or predominantly involving the central retina. ...Disease-causing mutations were identified in 74% of 251 consecutive MD/CCRD patients …
Macular and cone/cone-rod dystrophies (MD/CCRD) demonstrate a broad genetic and phenotypic heterogeneity, with retinal alterations so …
Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options.
Rahman N, Georgiou M, Khan KN, Michaelides M. Rahman N, et al. Br J Ophthalmol. 2020 Apr;104(4):451-460. doi: 10.1136/bjophthalmol-2019-315086. Epub 2019 Nov 8. Br J Ophthalmol. 2020. PMID: 31704701 Free PMC article. Review.
Macular dystrophies (MDs) consist of a heterogeneous group of disorders that are characterised by bilateral symmetrical central visual loss. ...
Macular dystrophies (MDs) consist of a heterogeneous group of disorders that are characterised by bilateral symmetrical central visua …
Stargardt Disease.
Tsang SH, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:139-151. doi: 10.1007/978-3-319-95046-4_27. Adv Exp Med Biol. 2018. PMID: 30578500 Review.
Stargardt disease (STGD) is one of the most common macular dystrophies in young adults. It progresses slowly. Its prevalence is about 1:8000-10,000. ...The reason for this sparing is unclear; this area may be more resilient to the deleterious effect of ABCA4 gene mu …
Stargardt disease (STGD) is one of the most common macular dystrophies in young adults. It progresses slowly. Its prevalence is about …
Retina and RPE lipid profile changes linked with ABCA4 associated Stargardt's maculopathy.
Farnoodian M, Bose D, Barone F, Nelson LM, Boyle M, Jun B, Do K, Gordon W, Guerin MK, Perera R, Ji JX, Cogliati T, Sharma R, Brooks BP, Bazan NG, Bharti K. Farnoodian M, et al. Pharmacol Ther. 2023 Sep;249:108482. doi: 10.1016/j.pharmthera.2023.108482. Epub 2023 Jun 27. Pharmacol Ther. 2023. PMID: 37385300 Review.
Stargardt maculopathy, caused predominantly by mutations in the ABCA4 gene, is characterized by an accumulation of non-degradable visual pigment derivative, lipofuscin, in the retinal pigment epithelium (RPE) - resulting in RPE atrophy. ...Recently, we demonstrated that …
Stargardt maculopathy, caused predominantly by mutations in the ABCA4 gene, is characterized by an accumulation of non-degradable vis …
The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration.
Molday RS, Zhong M, Quazi F. Molday RS, et al. Biochim Biophys Acta. 2009 Jul;1791(7):573-83. doi: 10.1016/j.bbalip.2009.02.004. Epub 2009 Feb 20. Biochim Biophys Acta. 2009. PMID: 19230850 Free PMC article. Review.
Over 500 mutations in the gene encoding ABCA4 are associated with a spectrum of related autosomal recessive retinal degenerative diseases including Stargardt macular degeneration, cone-rod dystrophy and a subset of retinitis pigmentosa. Biochemical studies on …
Over 500 mutations in the gene encoding ABCA4 are associated with a spectrum of related autosomal recessive retinal degenerative dise …
Macular Pigment Carotenoids and Bisretinoid A2E.
Arunkumar R, Bernstein PS. Arunkumar R, et al. Adv Exp Med Biol. 2023;1415:15-20. doi: 10.1007/978-3-031-27681-1_3. Adv Exp Med Biol. 2023. PMID: 37440008 Review.
Lutein (L), zeaxanthin (Z), and meso-zeaxanthin (MZ) are the three macular pigments (MP) carotenoids that uniquely accumulate in the macula lutea region of the human retina. ...The pyridinium bisretinoid, N-retinylidene-N-retinylethanolamine (A2E), contributes to drusen fo …
Lutein (L), zeaxanthin (Z), and meso-zeaxanthin (MZ) are the three macular pigments (MP) carotenoids that uniquely accumulate in the …
Chemiexcitation and melanin in photoreceptor disc turnover and prevention of macular degeneration.
Lyu Y, Tschulakow AV, Wang K, Brash DE, Schraermeyer U. Lyu Y, et al. Proc Natl Acad Sci U S A. 2023 May 16;120(20):e2216935120. doi: 10.1073/pnas.2216935120. Epub 2023 May 8. Proc Natl Acad Sci U S A. 2023. PMID: 37155898 Free PMC article.
Age-related macular degeneration, Stargardt disease, and their Abca4(-/-) mouse model are characterized by accelerated accumulation of the pigment lipofuscin, derived from photoreceptor disc turnover in the retinal pigment epithelium (RPE); lipofuscin accumul …
Age-related macular degeneration, Stargardt disease, and their Abca4(-/-) mouse model are characterized by accelerated …
614 results