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https://www.readbyqxmd.com/read/29145636/localization-and-functional-characterization-of-the-p-asn965ser-n965s-abca4-variant-in-mice-reveal-pathogenic-mechanisms-underlying-stargardt-macular-degeneration
#1
Laurie L Molday, Daniel Wahl, Marinko Sarunic, Robert S Molday
ABCA4 is a member of the superfamily of ATP-binding cassette (ABC) proteins that transports N-retinylidene-phosphatidylethanolamine (N-Ret-PE) across outer segment disc membranes thereby facilitating the removal of potentially toxic retinoid compounds from photoreceptor cells. Mutations in the gene encoding ABCA4 are responsible for Stargardt disease (STGD1), an autosomal recessive retinal degenerative disease that causes severe vision loss. To define the molecular basis for STGD1 associated with the p.Asn965Ser (N965S) mutation in the Walker A motif of nucleotide binding domain 1 (NBD1), we generated a p...
November 14, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29126757/quantifying-the-rate-of-ellipsoid-zone-loss-in-stargardt-disease
#2
Cindy X Cai, Jacob G Light, James T Handa
PURPOSE: To determine a reliable method of using the ellipsoid zone (EZ) on optical coherence tomography (OCT) to track disease progression in Stardgardt disease (STGD). DESIGN: retrospective reliability study METHODS: STGD patients with genetically confirmed ABCA4 gene mutations seen at the Wilmer Eye Institute with follow-up visits separated by at least 12 months were identified. Spectral domain optical coherence tomography (SD-OCT) macula volume scans centered at the fovea and fundus autofluorescence (FAF) images were obtained...
November 7, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/29114839/novel-complex-abca4-alleles-in-brazilian-patients-with-stargardt-disease-genotype-phenotype-correlation
#3
Mariana Vallim Salles, Fabiana Louise Motta, Elton Dias da Silva, Patricia Varela, Kárita Antunes Costa, Rafael Filippelli-Silva, Renan Paulo Martin, John Pei-Wen Chiang, João Bosco Pesquero, Juliana Maria Ferraz Sallum
Purpose: To analyze the presence of complex alleles of the ABCA4 gene in Brazilian patients with Stargardt disease and to assess the correlation with clinical features. Methods: This was an observational cross-sectional study. Patients with a diagnosis of Stargardt disease who presented three pathogenic variants of the ABCA4 gene or who had variants previously described as complex alleles were included. The relatives of these probands were evaluated in the segregation analysis...
November 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29068140/a-founder-mutation-in-cerkl-is-a-major-cause-of-retinal-dystrophy-in-finland
#4
Kristiina Avela, Eeva-Marja Sankila, Sanna Seitsonen, Liina Kuuluvainen, Stephanie Barton, Stuart Gillies, Kristiina Aittomäki
PURPOSE: To study the genetic aetiology of retinal dystrophies (RD) in Finnish patients. METHODS: A targeted next-generation sequencing (NGS) panel of 105 retinal dystrophy genes was used in a cohort of 55 RD patients. RESULTS: The overall diagnostic yield was 60% demonstrating the power of this approach. Interestingly, a missense mutation c.375C>G p.(Cys125Trp) in the CERKL gene was found in 18% of the patients in either a homozygous or compound heterozygous state...
October 25, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/29049734/a-computational-approach-from-gene-to-structure-analysis-of-the-human-abca4-transporter-involved-in-genetic-retinal-diseases
#5
Alfonso Trezza, Andrea Bernini, Andrea Langella, David B Ascher, Douglas E V Pires, Andrea Sodi, Ilaria Passerini, Elisabetta Pelo, Stanislao Rizzo, Neri Niccolai, Ottavia Spiga
Purpose: The aim of this article is to report the investigation of the structural features of ABCA4, a protein associated with a genetic retinal disease. A new database collecting knowledge of ABCA4 structure may facilitate predictions about the possible functional consequences of gene mutations observed in clinical practice. Methods: In order to correlate structural and functional effects of the observed mutations, the structure of mouse P-glycoprotein was used as a template for homology modeling...
October 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29049437/progression-of-stargardt-disease-as-determined-by-fundus-autofluorescence-in-the-retrospective-progression-of-stargardt-disease-study-progstar-report-no-9
#6
Rupert W Strauss, Beatriz Muñoz, Alexander Ho, Anamika Jha, Michel Michaelides, Artur V Cideciyan, Isabelle Audo, David G Birch, Amir H Hariri, Muneeswar G Nittala, SriniVas Sadda, Sheila West, Hendrik P N Scholl
Importance: Sensitive outcome measures for disease progression are needed for treatment trials of Stargardt disease. Objective: To describe the yearly progression rate of atrophic lesions in the retrospective Progression of Stargardt Disease study. Design, Setting, and Participants: A multicenter retrospective cohort study was conducted at tertiary referral centers in the United States and Europe. A total of 251 patients aged 6 years or older at baseline, harboring disease-causing variants in ABCA4 (OMIM 601691), enrolled in the study from 9 centers between August 2, 2013, and December 12, 2014; of these patients, 215 had at least 2 gradable fundus autofluorescence images with atrophic lesion(s) present in at least 1 eye...
November 1, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/29038010/peripheral-visual-fields-in-abca4-stargardt-disease-and-correlation-with-disease-extent-on-ultra-widefield-fundus-autofluorescence
#7
Maria Fernanda Abalem, Benjamin Otte, Chris Andrews, Katherine A Joltikov, Kari Branham, Abigail T Fahim, Dana Schlegel, Cynthia X Qian, John R Heckenlively, Thiran Jayasundera
PURPOSE: To evaluate the disease extent on ultra-widefield fundus autofluorescence (UWF-FAF) in patients with ABCA4- Stargardt disease (STGD) and correlate this data with functional outcome measures. DESIGN: Retrospective cross sectional study SETTING: Kellogg Eye Center, University of Michigan STUDY POPULATION: Sixty-five patients with clinical diagnosis and proven pathogenic variants in the ABCA4 gene. OBSERVATIONAL PROCEDURES: The UWF-FAF images were obtained using Optos 200- degrees and classified into three types...
October 14, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/29028687/hyperreflective-deposition-in-the-background-of-advanced-stargardt-disease
#8
Lyam Ciccone, Winston Lee, Jana Zernant, Koji Tanaka, Kaspar Schuerch, Stephen H Tsang, Rando Allikmets
PURPOSE: To describe an unusual manifestation of hyperreflective deposits in the subretinal space in a group of patients with clinically and genetically confirmed Stargardt disease. METHODS: Retrospective review of color fundus, autofluorescence, infrared reflectance, red-free images, and spectral domain optical coherence tomography in 296 clinically diagnosed and genetically confirmed (2 expected disease-causing mutations in ABCA4) patients with Stargardt disease...
October 12, 2017: Retina
https://www.readbyqxmd.com/read/28980559/-molecular-genetic-diagnosis-of-stargardt-disease
#9
N L Sheremet, N V Zhorzholadze, I A Ronzina, I G Grushke, S A Kurbatov, A L Chukhrova, A N Loginova, P O Shcherbakova, A S Tanas, A V Polyakov, V V Strel'nikov
AIM: To comparatively evaluate the efficacy of genetic screening in patients with Stargardt disease (SD) by using an express panel of 5 most common ABCA4 mutations and performing massive parallel sequencing of all coding regions of the ABCA4, ELOVL4, PROM1, and CNGB3 genes. MATERIAL AND METHODS: MLPA analysis for 5 ABCA4 mutations, namely p.G863A, p.L541P, p.A1038V, p.G1961E, and p.P1380L, was done in 54 patients with SD. In 25 patients, massive parallel sequencing of coding regions (exons) and neighboring introns of the ABCA4, ELOVL4, PROM1, and CNGB3 genes was also performed...
2017: Vestnik Oftalmologii
https://www.readbyqxmd.com/read/28973313/metrics-and-acquisition-modes-for-fixation-stability-as-a-visual-function-biomarker
#10
MULTICENTER STUDY
Etienne M Schönbach, Mohamed A Ibrahim, Xiangrong Kong, Rupert W Strauss, Beatriz Muñoz, David G Birch, Janet S Sunness, Sheila K West, Hendrik P N Scholl
Purpose: To compare different metrics and acquisition modes of fixation stability as a new visual function biomarker in a large cohort of patients with ABCA4-related Stargardt disease from the multicenter prospective ProgStar study. Methods: Fixation was tested during a separate fixation exam and also dynamically during a sensitivity exam, using fundus-tracking microperimetry (Nidek MP-1). Fixation data were analyzed using the bivariate contour ellipse area (BCEA), the 2/4 degree method, and the Fujii classification...
May 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28947085/the-rapid-onset-chorioretinopathy-phenotype-of-abca4-disease
#11
Koji Tanaka, Winston Lee, Jana Zernant, Kaspar Schuerch, Lyam Ciccone, Stephen H Tsang, Janet R Sparrow, Rando Allikmets
PURPOSE: To characterize patients affected by a uniquely severe, rapid-onset chorioretinopathy (ROC) phenotype of ABCA4 disease. DESIGN: Comparative cohort study. PARTICIPANTS: Sixteen patients were selected from a large clinically diagnosed and genetically confirmed cohort (n = 300) of patients diagnosed with ABCA4 disease. MAIN OUTCOME MEASURES: Phenotypic characteristics were assessed on color fundus photographs, short-wavelength autofluorescence (488-nm), and near-infrared autofluorescence (NIR-AF, 787-nm) images...
September 22, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28945494/identification-of-the-genetic-determinants-responsible-for-retinal-degeneration-in-families-of-mexican-descent
#12
Adda Villanueva, Pooja Biswas, Kameron Kishaba, John Suk, Keerti Tadimeti, Pongali B Raghavendra, Karine Nadeau, Bruno Lamontagne, Lambert Busque, Steve Geoffroy, Ian Mongrain, Géraldine Asselin, Sylvie Provost, Marie-Pierre Dubé, Eric Nudleman, Radha Ayyagari
PURPOSE: To investigate the clinical characteristics and genetic basis of inherited retinal degeneration (IRD) in six unrelated pedigrees from Mexico. METHODS: A complete ophthalmic evaluation including measurement of visual acuities, Goldman kinetic or Humphrey dynamic perimetry, Amsler test, fundus photography, and color vision testing was performed. Family history and blood samples were collected from available family members. DNA from members of two pedigrees was examined for known mutations using the APEX ARRP genotyping microarray and one pedigree using the APEX LCA genotyping microarray...
September 25, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28919188/-contribution-of-multimodal-imaging-in-the-various-stages-of-stargardt-disease
#13
L El Matri, Y Falfoul, M Kortli, A Hassairi, H Charfi, A Turki, F Kort, A Chebil
PURPOSE: To describe the contribution of multimodal imaging in the various stages of Stargardt disease (STGD). PATIENTS AND METHODS: We retrospectively reviewed 46 eyes of 23 STGD patients with identified ABCA4 mutations. All patients underwent a complete ophthalmic examination, spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence (FAF), fluorescein angiography (FA) and Indocyanine green angiography (ICGA). RESULTS: The mean age of patients was 25...
October 2017: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/28890726/next-generation-sequencing-aided-rapid-molecular-diagnosis-of-occult-macular-dystrophy-in-a-chinese-family
#14
Yu-He Qi, Feng-Juan Gao, Fang-Yuan Hu, Sheng-Hai Zhang, Jun-Yi Chen, Wan-Jing Huang, Guo-Hong Tian, Min Wang, De-Kang Gan, Ji-Hong Wu, Ge-Zhi Xu
Purpose: To show early, rapid and accurate molecular diagnosis of occult macular dystrophy (OMD) in a four-generation Chinese family with inherited macular dystrophy. Methods: In the current study, we comprehensively screened 130 genes involved in common inherited non-syndromic eye diseases with next-generation sequencing-based target capture sequencing of the proband of a four-generation Chinese family that has suffered from maculopathy without a definitive diagnosis for over 10 years. Variants were filtered and analyzed to identify possible disease-causing variants before validation by Sanger sequencing...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28885670/novel-abca4-mutation-leads-to-loss-of-a-conserved-c-terminal-motif-implications-for-predicting-pathogenicity-based-on-genetic-testing
#15
Nutsuchar Wangtiraumnuay, Jenina Capasso, Mai Tsukikawa, Alex Levin, Esther Biswas-Fiss
PURPOSE: Mutations in the ABCA4 gene result in a broad spectrum of severe retinal degeneration, including Stargardt macular dystrophy, fundus flavimaculatus, autosomal recessive retinitis pigmentosa, and cone-rod dystrophy. In addition to the detection of well-characterized mutations, genetic testing frequently yields novel variants of unknown significance. The purpose of this report is to describe an approach to aid in the assessment of genetic variants of unknown significance. CASE REPORT: We report an 11-year-old girl with Stargardt disease harboring novel compound heterozygous deletions of ABCA4 (c...
September 8, 2017: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/28726568/double-hyperautofluorescent-ring-on-fundus-autofluorescence-in-abca4
#16
Maria Fernanda Abalem, Cynthia X Qian, Kari Branham, Dana Schlegel, Abigail T Fahim, Naheed W Khan, John R Heckenlively, K Thiran Jayasundera
We report an unusual phenotype in a child with a clinical diagnosis of recessive Stargardt disease (STGD1) and two pathogenic variants in the ABCA4 gene. Typically, the diagnosis of early-onset STGD1 is challenging because children may present with a variety of fundus changes and a variable rate of progression. At the time of his initial visit, the 6-year-old boy presented with 20/200 OD (right eye) and 20/150 OS (left eye), symmetrical mild foveal atrophy without flecks on fundus exam, and foveal hypoautofluorescence surrounded by a homogeneous hyperautofluorescent background on wide-field fundus autofluorescence...
July 20, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28662356/a-population-based-study-of-effects-of-genetic-loci-on-orofacial-clefts
#17
MULTICENTER STUDY
L M Moreno Uribe, T Fomina, R G Munger, P A Romitti, M M Jenkins, H K Gjessing, M Gjerdevik, K Christensen, A J Wilcox, J C Murray, R T Lie, G L Wehby
Prior genome-wide association studies for oral clefts have focused on clinic-based samples with unclear generalizability. Prior samples were also small for investigating effects by cleft type and exclusively studied isolated clefts (those occurring without other birth defects). We estimated the effects of 17 top loci on cleft types in both isolated and nonisolated cases in the largest consortium to date of European-descent population-based studies. Our analytic approach focused on a mother-child dyad case-control design, but it also allowed analyzing mother-only or child-only genotypes to maximize power...
October 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28611652/a-novel-abca4-mutation-associated-with-a-late-onset-stargardt-disease-phenotype-a-hypomorphic-allele
#18
Cindy S Kaway, Madeleine K M Adams, Kevin Sean Jenkins, Christopher J Layton
BACKGROUND: Stargardt disease (STGD) is the most common juvenile hereditary macular dystrophy. In the majority of cases, the diagnosis is made prior to 20 years of age and usually leads to loss of central vision. Late-onset STGD affects a smaller number of patients. Identifying genetic changes which could be associated with clinically important differences in severity or presentation of the disease is important for understanding the mechanisms of visual loss and for planning future therapeutic approaches...
January 2017: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/28571903/next-generation-sequencing-in-the-diagnosis-of-stargardt-s-disease
#19
B Jimenez-Rolando, S Noval, I Rosa-Perez, E Mata Diaz, A Del Pozo, C Ibañez, J C Silla, V E F Montaño, R Martin-Arenas, E Vallespin
INTRODUCTION: Stargardt's disease is the most frequent form of inherited macular dystrophy in children and adults. It is a genetic eye disorder caused by mutations in ABCA4 gene with an autosomal recessive inheritance. ABCA4 is a very polymorphic and large gene containing 50 exons. The development of next generation sequencing (NGS) can be used for the genetic diagnosis of this disease. PATIENTS AND METHODS: A report is presented on two patients with a clinical diagnosis of Stargardt's disease whose genetic confirmation was performed by a NGS panel of 298 genes...
May 29, 2017: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/28559085/clinically-focused-molecular-investigation-of-1000-consecutive-families-with-inherited-retinal-disease
#20
Edwin M Stone, Jeaneen L Andorf, S Scott Whitmore, Adam P DeLuca, Joseph C Giacalone, Luan M Streb, Terry A Braun, Robert F Mullins, Todd E Scheetz, Val C Sheffield, Budd A Tucker
PURPOSE: To devise a comprehensive multiplatform genetic testing strategy for inherited retinal disease and to describe its performance in 1000 consecutive families seen by a single clinician. DESIGN: Retrospective series. PARTICIPANTS: One thousand consecutive families seen by a single clinician. METHODS: The clinical records of all patients seen by a single retina specialist between January 2010 and June 2016 were reviewed, and all patients who met the clinical criteria for a diagnosis of inherited retinal disease were included in the study...
September 2017: Ophthalmology
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