Results 41 to 50 of about 5,408 (199)

Analysis of the ABCA4 genomic locus in Stargardt disease [PDF]

Human Molecular Genetics, 2014
Autosomal recessive Stargardt disease (STGD1, MIM 248200) is caused by mutations in the ABCA4 gene. Complete sequencing of ABCA4 in STGD patients identifies compound heterozygous or homozygous disease-associated alleles in 65-70% of patients and only one mutation in 15-20% of patients.
Zernant, Jana, Xie, Yajing A. ngela, Ayuso, Carmen, Riveiro Alvarez, Rosa, Lopez Martinez, Miguel Angel, SIMONELLI, Francesca, TESTA, Francesco, Gorin, Michael B., Strom, Samuel P., Bertelsen, Mette, Rosenberg, Thomas, Boone, Philip M., Yuan, Bo, Ayyagari, Radha, Nagy, Peter L., Tsang, Stephen H., Gouras, Peter, Collison, Frederick T., Lupski, James R., Fishman, Gerald A., Allikmets, Rando   +20 more
openaire   +4 more sources

ABCA4 is an N-retinylidene-phosphatidylethanolamine and phosphatidylethanolamine importer [PDF]

Nature Communications, 2012
ATP-binding cassette (ABC) transporters comprise a superfamily of proteins, which actively transport a variety of compounds across cell membranes. Mammalian and most eukaryotic ABC transporters function as exporters, flipping or extruding substrates from the cytoplasmic to the extracellular or lumen side of cell membranes.
Quazi, Faraz, Lenevich, Stepan, Molday, Robert S.   +2 more
openaire   +2 more sources

Clinical and Genetic Correlations of Inherital Retinal Disease with Mutations in the ABCA4 Gene by Patients of the Russian Population

Oftalʹmologiâ, 2021
Aim: to study genotype-phenotype correlations in patients with inherited retinal diseases with mutations in ABCA4 gene in Russian Federation.Patients and methods.
I. V. Zolnikova, V. V. Kadyshev, A. V. Marakhonov, A. B. Chernyak, S. V. Milash, Yu. A. Bobrovskaya, N. A. Urakova, N. Sh. Kokoeva, S. I. Kutsev, R. A. Zinchenko   +9 more
doaj   +1 more source

Common ABCA4 mutations in South Africans: frequencies, pathogenicity and genotype-phenotype correlations [PDF]

, 2010
Stargardt disease (STGD), a juvenile-onset form of macular dystrophy resulting in a severe reduction of central vision, may be inherited in either an autosomal recessive or autosomal dominant manner.
Nossek, C
core   +1 more source

Allelic and phenotypic heterogeneity inABCA4mutations [PDF]

Ophthalmic Genetics, 2011
Since the discovery of the ABCA4 gene as the cause of autosomal recessive Stargardt disease/fundus flavimaculatus much has been written of the phenotypic variability in ABCA4 retinopathy. In this review the authors discuss the findings seen on examination and the disease features detected using various clinical tests.
Tomas R, Burke, Stephen H, Tsang
openaire   +2 more sources

Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4 [PDF]

, 2019
Pathogenic variants in the ATP-binding cassette transporter A4 (ABCA4) gene cause a continuum of retinal disease phenotypes, including Stargardt disease.
Cremers, Frans PM, Roosing, Susanne, Ayuso, Carmen, group, The ABCA4 study, Khan, Mubeen, Del Pozo‐Valero, Marta, Cornelis, Stéphanie S, Fadaie, Zeinab   +7 more
core   +1 more source

Genetic characterization of Stargardt clinical phenotype in South Indian patients using sanger and targeted sequencing

Eye and Vision, 2020
Background Stargardt disease 1 (STGD1; MIM 248200) is a monogenic form of autosomal recessive genetic disease caused by mutation in ABCA4. This gene has a major role in hydrolyzing N-retinylidene-phosphatidylethanolamine to all-trans-retinal and ...
Rajendran Kadarkarai Raj, Pankaja Dhoble, Rupa Anjanamurthy, Prakash Chermakani, Manojkumar Kumaran, Bharanidharan Devarajan, Periasamy Sundaresan   +6 more
doaj   +1 more source

Trial Interventions in ABCA4- Retinopathy [PDF]

, 2020
Abstract: Inherited retinal diseases collectively are one of the leading causes of visual impairment worldwide. ABCA4 retinopathy is the most common inherited retinal disease. In the last few years, there are many advances in the understanding of this disease, which led to many interventional trials with promising results at the moment.
openaire   +1 more source

Multi-platform imaging in ABCA4-Associated Disease [PDF]

Scientific Reports, 2019
AbstractFundus autofluorescence (FAF) imaging is crucial to the diagnosis and monitoring of recessive Stargardt disease (STGD1). In a retrospective cohort study of 34 patients, we compared FAF imaging platforms varying in field size (30° and 55°: blue/SW-AF and NIR-AF; 200°: ultrawide-field, UWF-AF), excitation wavelength (488 nm, blue/SW-AF; 532 nm ...
Chen, Lijuan, Lee, Winston, de Carvalho, Jose Ronaldo Lima, Chang, Stanley, Tsang, Stephen H., Allikmets, Rando, Sparrow, Janet R.   +6 more
openaire   +2 more sources

Early-Onset Stargardt Disease Caused by Homozygosity of a Complex <italic>ABCA4</italic> Allele from Eastern Africa: Two Case Reports

Case Reports in Ophthalmology
Introduction: Biallelic pathogenic variants in the ABCA4 gene are the leading cause of inherited retinal diseases. Over 1,200 pathogenic or likely pathogenic ABCA4 variants have been reported, resulting in a broad clinical spectrum of ABCA4 ...
Sigrid Aslaksen, Eirik Bratland, Mari Hamre Bu, Ingvild Aukrust, Cecilie Bredrup, Marte Innselset Flydal, Adam P. DeLuca, Jeaneen L. Andorf, Edwin M. Stone, Per Morten Knappskog   +9 more
doaj   +1 more source