Results 51 to 60 of about 5,408 (199)

SPECTRUM OF MOLECULAR GENETIC ALTERATIONS AND DIVERSITY OF CLINICAL FORMS OF STARGARDT DISEASE

Сибирский научный медицинский журнал, 2019
Purpose of the study was to assess the spectrum of molecular genetic disorders and the variety of clinical forms in patients with Stargardt disease. Material and methods.
N. L. Sheremet, I. G. Grushke, N. V. Zhorzholadze, I. A. Ronzina, A. A. Mikaelyan, S. A. Kurbatov, V. V. Kadyshev, K. I. Anoshkin, V. V. Strelnikov   +8 more
doaj   +1 more source

Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene

Stem Cell Research, 2021
Stargardt disease (STGD1) is the most common inherited retinal dystrophy and ABCA4 c.546-–10 T>C is the most commonly reported splice mutation. Here, we generated and characterized two induced pluripotent stem cell (iPSC) lines from a STGD1 patient with ...
Di Huang, Dan Zhang, Shang-Chih Chen, May Thandar Aung-Htut, Tina M. Lamey, Jennifer A. Thompson, Terri L. McLaren, John N. De Roach, Sue Fletcher, Steve D Wilton, Fred K. Chen, Samuel McLenachan   +11 more
doaj   +1 more source

Macular hyperpigmentary changes in ABCA4-Stargardt disease [PDF]

International Journal of Retina and Vitreous, 2019
Stargardt disease (STGD) and age-related macular degeneration (AMD) share clinical and pathophysiological features. In AMD, macular hyperpigmentary changes are associated to a worse prognosis. The purpose of this study was to characterize macular hyperpigmentary changes in patients with STGD and associate them with the severity of phenotype.This ...
Abalem, Maria F, Omari, Amro A, Schlegel, Dana, Khan, Naheed W, Jayasundera, Thiran   +4 more
openaire   +4 more sources

An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease. [PDF]

PLoS Genetics, 2019
Autosomal recessive retinal degenerative diseases cause visual impairment and blindness in both humans and dogs. Currently, no standard treatment is available, but pioneering gene therapy-based canine models have been instrumental for clinical trials in ...
Suvi Mäkeläinen, Marta Gòdia, Minas Hellsand, Agnese Viluma, Daniela Hahn, Karim Makdoumi, Caroline J Zeiss, Cathryn Mellersh, Sally L Ricketts, Kristina Narfström, Finn Hallböök, Björn Ekesten, Göran Andersson, Tomas F Bergström   +13 more
doaj   +1 more source

The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease [PDF]

Ophthalmology, 2018
To characterize patients affected by a uniquely severe, rapid-onset chorioretinopathy (ROC) phenotype of ABCA4 disease.Comparative cohort study.Sixteen patients were selected from a large clinically diagnosed and genetically confirmed cohort (n = 300) of patients diagnosed with ABCA4 disease.Phenotypic characteristics were assessed on color fundus ...
Koji Tanaka, Winston Lee, Jana Zernant, Kaspar Schuerch, Lyam Ciccone, Stephen H. Tsang, Janet R. Sparrow, Rando Allikmets   +7 more
openaire   +2 more sources

Generation of iPSC lines from three Stargardt patients carrying bi-allelic ABCA4 variants

Stem Cell Research, 2023
Stargardt disease, a progressive retinal disorder, is associated with bi-allelic variants in ABCA4, a protein that is expressed in the retina. Induced pluripotent stem cell lines (RMCGENi005-A, SCTCi018-A, SCTCi017-A) were generated by lentivirus ...
Dyah W. Karjosukarso, Femke Bukkems, Lonneke Duijkers, Nico Leijsten, Carel B. Hoyng, Rob W.J. Collin   +5 more
doaj   +1 more source

ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype [PDF]

, 2010
PURPOSE: To identify the causative mutation leading to autosomal dominant macular dystrophy, cone dystrophy, and cone-rod dystrophy in a five-generation family and to explain the high intrafamilial phenotypic variation by identifying possible modifier ...
Neidhardt, John, Lemke, J R, Berger, Wolfgang, Poloschek, Charlotte M, Lemke, Johannes, Lagrèze, Wolf-Dietrich A., Poloschek, C M, Bach, M, Neidhardt, J, Poloschek, Charlotte M., Berger, W, Glaus, E, Lagrèze, W A, Bach, Michael, Glaus, Esther   +14 more
core   +1 more source

Engineering Biology Beyond Single Genes: Advances and Challenges in Multiplex Genome Editing

Animal Research and One Health, EarlyView.
Multiplex genome editing is transforming genome engineering from single‐gene perturbation to network‐level control, yet its broader application remains limited by challenges in gRNA array engineering, delivery technologies, and safety management. Emerging AI‐driven approaches are accelerating guide RNA design and CRISPR effector optimization for ...
Linli Wang, Yongbin Liu, Hongbing Han
wiley   +1 more source

Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland [PDF]

Genes, 2019
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). Since the knowledge of the genetic causes of inherited retinal diseases (IRDs) in Poland is still scarce, the purpose of
Tracewska, A.M., Kocyla-Karczmarewicz, B., Rafalska, A., Murawska, J., Jakubaszko-Jablonska, J., Rydzanicz, M., Stawinski, P., Ciara, E., Khan, M.I., Henkes, A., Hoischen, A., Hoischen, A., Hoischen, A., Gilissen, C.F., van de Vorst, M., Cremers, F.P.M., Ploski, R., Chrzanowska, K.H.   +17 more
openaire   +3 more sources

Characterization of ABCA4 mRNA expression and western blot analyses of ABCA4 protein levels in the canine retina.

, 2019
(A) Relative ABCA4 mRNA expression levels by quantitative RT-PCR in three different regions in three dogs with different genotypes (ABCA4+/+, ABCA4+/-, and ABCA4-/-), normalized to GAPDH expression.
Agnese Viluma (462030), Daniela Hahn (6482468), Caroline J. Zeiss (441742), Suvi Mäkeläinen (6482462), Göran Andersson (87442), Marta Gòdia (5144840), Finn Hallböök (93131), Minas Hellsand (6482465), Cathryn Mellersh (838866), Kristina Narfström (205129), Sally L. Ricketts (188424), Björn Ekesten (205132), Tomas F. Bergström (6482474), Karim Makdoumi (6482471)   +13 more
core   +1 more source