Results 81 to 90 of about 971 (147)

Correlation between calibrated SW-AF measurements and histologic data on lipofuscin granules.

, 2017
We considered the product of optical path length (l) and granule concentration (ng) to be indicative of light absorption by lipofuscin granules. Here, we tested whether this product correlates with calibrated SW- AF measurements published earlier (‘qAF8’
Frits F. de Mul (3779350), Carel B. Hoyng (552359), Michel M. Teussink (3779347), Thomas Theelen (3779341), Malgorzata B. Rozanowska (3779353), B. Jeroen Klevering (659530), Stanley Lambertus (3779344)   +6 more
core   +1 more source

Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles

Journal of Ophthalmology, 2018
Aim. To evaluate the frequency and pattern of disease-associated mutations of ABCA4 gene among Greek patients with presumed Stargardt disease (STGD1). Materials and Methods.
Kamakari Smaragda, Kokkinou Vassiliki, Koutsodontis George, Stamatiou Polixeni, Giatzakis Christoforos, Anastasakis Anastasios, Aslanides Ioannis Minas, Koukoula Stavrenia, Panagiotoglou Theoni, Datseris Ioannis, Tsilimbaris K. Miltiadis   +10 more
doaj   +1 more source

Looking outside the box with a pathology aware AI approach for analyzing OCT retinal images in Stargardt disease

Scientific Reports
Stargardt disease type 1 (STGD1) is a genetic disorder that leads to progressive vision loss, with no approved treatments currently available. The development of effective therapies faces the challenge of identifying appropriate outcome measures that ...
Parisa Khateri, Tiana Koottungal, Damon Wong, Rupert W. Strauss, Lucas Janeschitz-Kriegl, Maximilian Pfau, Leopold Schmetterer, Hendrik P. N. Scholl   +7 more
doaj   +1 more source

Generation and characterization of a Stargardt’s disease-specific induced pluripotent stem cell line (LVPEIi008-A) with a homozygous nonsense mutation in exon 44 of ABCA4

Stem Cell Research
The Stargardt’s Disease, Type 1 (STGD1) is associated with the loss of function mutations in ABCA4. This gene codes for a retina-specific, ATP-binding cassette (ABC) family transporter, involved in the transport of the key visual cycle intermediate, all ...
Divya Pidishetty, Savitri Maddileti, Sudipta Mahato, Trupti Agrawal, Milind Naik, Chitra Kannabiran, Subhadra Jalali, Indumathi Mariappan   +7 more
doaj   +1 more source

Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease

, 2019
Purpose Stargardt disease (STGD1) is caused by biallelic mutations in ABCA4, but many patients are genetically unsolved due to insensitive mutation-scanning methods.
Bakker, Sem, Weber, Bernhard H. F., Defoort, Sabine, Devos, Aurore, Neveling, Kornelia, Manders, Eline, Cornelis, Stéphanie S., Derks, Ronny, Meunier, Isabelle, Dhaenens, Claire‐Marie, Stöhr, Heidi, Grassmann, Felix, Cremers, Frans P. M., Khan, Muhammad Imran, Schulz, Heidi L., Gilissen, Christian, Vorst, Maartje, Khan, Mubeen, Elmelik, Duaa, Puech, Bernard   +19 more
core   +1 more source

Multimodal in-vivo maps as a tool to characterize retinal structural biomarkers for progression in adult-onset Stargardt disease

Frontiers in Ophthalmology
PurposeTo characterize retinal structural biomarkers for progression in adult-onset Stargardt disease from multimodal retinal imaging in-vivo maps.MethodsSeven adult patients (29–69 years; 3 males) with genetically-confirmed and clinically diagnosed ...
Hilde R. Pedersen, Stuart J. Gilson, Lene A. Hagen, Josephine Prener Holtan, Josephine Prener Holtan, Ragnheidur Bragadottir, Ragnheidur Bragadottir, Rigmor C. Baraas   +7 more
doaj   +1 more source

Table_1_ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants.doc

, 2019
Purpose: To clarify the mutation spectrum and frequency of ABCA4 in a Chinese cohort with Stargardt disease (STGD1).Methods: A total of 153 subjects, comprising 25 families (25 probands and their family members) and 71 sporadic cases, were recruited for ...
Wei Li (7081), Fang Chen (34476), Sheng-Hai Zhang (7347158), Lu-Sheng Wang (7347152), Ge-Zhi Xu (311561), Jian-kang Li (7347140), Yong-Jin Zhang (7347149), Qing Chang (93814), Yu-He Qi (7347146), Fang-Yuan Hu (7347137), Dan-Dan Wang (1449370), Feng-Juan Gao (7347143), Ji-Hong Wu (2723467), Ping Xu (122619), Min Wang (21070), Si-Mai Shen (7347155)   +15 more
core   +1 more source

Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families

Molecular Vision, 2019
Purpose: Inherited retinal diseases (IRDs) are clinically and genetically heterogeneous showing progressive retinal cell death which results in vision loss.
Naeimeh Tayebi, Oyediran Akinrinade, Muhammad Imran Khan, Arash Hejazifar, Alireza Dehghani, Frans P.M. Cremers, Mohammadreza Akhlaghi   +6 more
doaj  

Preclinical assessment of splicing modulation therapy for ABCA4 variant c.768G>T in Stargardt disease

Communications Medicine
Background Stargardt disease type 1 (STGD1) is a progressive retinal disorder caused by bi-allelic variants in the ABCA4 gene. A recurrent variant at the exon-intron junction of exon 6, c.768G>T, causes a 35-nt elongation of exon 6 that leads to ...
Dyah W. Karjosukarso, Femke Bukkems, Lonneke Duijkers, Tomasz Z. Tomkiewicz, Julia Kiefmann, Andrei Sarlea, Sander Bervoets, Irene Vázquez-Domínguez, Laurie L. Molday, Robert S. Molday, Mihai G. Netea, Carel B. Hoyng, Alejandro Garanto, Rob W. J. Collin   +13 more
doaj   +1 more source

DGAT1-associated lipid-retinoid dysregulation correlates with metabolic impairment in the RPE of Stargardt disease. [PDF]

iScience
Dave A, Ng ESY, Jiang Z, Hu J, Tatang J, Paniagua A, Doeve J, Parikh S, Williams KJ, Stiles L, Radu RA.   +10 more
europepmc   +1 more source