Results 161 to 170 of about 2,525,884 (192)

Genotyping microarray (gene chip) for theABCR(ABCA4) gene

Human Mutation, 2003
Genetic variation in the ABCR (ABCA4) gene has been associated with five distinct retinal phenotypes, including Stargardt disease/fundus flavimaculatus (STGD/FFM), cone-rod dystrophy (CRD), and age-related macular degeneration (AMD). Comparative genetic analyses of ABCR variation and diagnostics have been complicated by substantial allelic ...
Jaakson K, Zernant J, Külm M, Hutchinson A, Tonisson N, Glavac D, Ravnik Glavac M, Hawlina M, Meltzer MR, Caruso RC, TESTA, Francesco, Maugeri A, Hoyng CB, Gouras P, SIMONELLI, Francesca, Lewis RA, Lupski JR, Cremers FP, Allikmets R.   +18 more
openaire   +4 more sources

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies [PDF]

European Journal of Human Genetics, 2008
The ATP-binding cassette (ABC) transporters constitute a family of large membrane proteins, which transport a variety of substrates across membranes. The ABCA4 protein is expressed in photoreceptors and possibly functions as a transporter for N-retinylidene-phosphatidylethanolamine (N-retinylidene-PE), the Schiff base adduct of all-trans-retinal with ...
Bernd Wissinger, Artur V Cideciyan, Susanne Kohl   +2 more
exaly   +3 more sources

Clinical polymorphism of splice site mutations in the ABCA4 gene

Vestnik oftal'mologii, 2018
ABCA4 is one of the main genes whose mutations are associated with various inherited retinal diseases (IRD) such as Stargardt disease, cone dystrophy, cone-rod dystrophy, and retinitis pigmentosa. The severity of retinal dystrophy phenotype may be related to the degree of mutation pathogenicity, which depends on the localization in various regulatory ...
N L, Sheremet, I G, Grushke, N V, Zhorzholadze, I A, Ronzina, A A, Mikaelyan, A S, Tanas, V V, Strelnikov   +6 more
openaire   +2 more sources

Expression of ABCA4 in the retinal pigment epithelium and its implications for Stargardt macular degeneration [PDF]

Proceedings of the National Academy of Sciences of the United States of America, 2018
Recessive Stargardt disease (STGD1) is an inherited blinding disorder caused by mutations in the Abca4 gene. ABCA4 is a flippase in photoreceptor outer segments (OS) that translocates retinaldehyde conjugated to phosphatidylethanolamine across OS disc ...
Silvia C Finnemann, T Michael Redmond, Roxana A Radu   +2 more
exaly   +2 more sources

Inherited retinal diseases in patients with ABCA4 gene mutations

Vestnik oftal'mologii, 2018
ABCA4 is one of the main genes which mutations are associated with various inherited retinal diseases (IRD) such as Stargardt disease, cone dystrophy, cone-rod dystrophy, and retinitis pigmentosa. Wide prevalence of IRD, high heterogeneity of ABCA4 gene mutations that lead to impaired function of the protein with varying expressiveness make studying of
N L, Sheremet, I G, Grushke, N V, Zhorzholadze, A S, Tanas, V V, Strelnikov   +4 more
openaire   +2 more sources

The gene for Stargardt disease, ABCA4, is a major retinal gene: a mini-review

Ophthalmic Genetics, 2003
The gene ABCA4 encodes the rod and cone photoreceptor Rim protein, which is a transmembrane transporter of vitamin A intermediates. ABCA 4 mutations are responsible for a large variety of retinal degenerations including all cases of Stargardt macular dystrophy and fundus flavimaculatus, some forms of cone-rod degeneration, and retinitis pigmentosa, and
openaire   +2 more sources

VARIABLE EXPRESSIVITY OF ABCA4 GENE MUTATIONS IN AN ITALIAN FAMILY WITH STARGARDT DISEASE

RETINAL Cases & Brief Reports, 2008
Stargardt disease is a juvenile-onset macular dystrophy that can be inherited in an autosomal recessive manner. The gene responsible for the disease is ABCR, which encodes for a retinal protein. The authors report an Italian family with a variable expressivity of ABCR gene mutations.Case series.ABCR mutations in both alleles were detected in two ...
Andrea, Sodi, Alessandro, Bini, Ilaria, Passerini, Marco, Puccioni, Francesca, Torricelli, Ugo, Menchini   +5 more
openaire   +2 more sources

Different Patterns of Fundus Autofluorescence Related to ABCA4 Gene Mutations in Stargardt Disease

Ophthalmic Surgery, Lasers and Imaging Retina, 2010
BACKGROUND AND OBJECTIVE: Stargardt disease is a type of juvenile-onset macular dystrophy. The clinical presentation is characterized by macular atrophy and the presence of lipofuscin storage. The aim of this study was to investigate a possible correlation between different ABCA4 gene mutations and the autofluorescence pattern.
Sodi A, BINI, ALESSANDRO, PASSERINI, ILARIA, Forconi S, MENCHINI, UGO, TORRICELLI, FRANCESCA   +5 more
openaire   +2 more sources

Stargardt Disease: Gene Therapy Strategies for ABCA4

International Ophthalmology Clinics, 2021
Cristy A, Ku, Paul, Yang
openaire   +2 more sources

Molecular analysis of ABCA4 gene in an Iranian cohort with Stargardt disease

Gene Reports, 2022
Mahdie Davoudi, Azam Amirian, Shohre Zare Karizi, Morteza Karimipoor   +3 more
openaire   +1 more source