Cargando…

A genotype-phenotype correlation matrix for ABCA4 disease based on long-term prognostic outcomes

BACKGROUND: More than 1500 variants in the ATP-binding cassette, sub-family A, member 4 (ABCA4), locus underlie a heterogeneous spectrum of retinal disorders ranging from aggressive childhood-onset chorioretinopathy to milder late-onset macular disease. Genotype-phenotype correlation studies have be...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lee, Winston, Zernant, Jana, Su, Pei-Yin, Nagasaki, Takayuki, Tsang, Stephen H., Allikmets, Rando
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Society for Clinical Investigation 2022
Materias:	Clinical Medicine
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8855796/ https://www.ncbi.nlm.nih.gov/pubmed/34874912 http://dx.doi.org/10.1172/jci.insight.156154

Ejemplares similares

Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease
por: Allikmets, Rando, et al.
Publicado: (2018)

Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes
por: Zernant, Jana, et al.
Publicado: (2018)

Simultaneous Expression of ABCA4 and GPR143 Mutations: A Complex Phenotypic Manifestation
por: Lee, Winston, et al.
Publicado: (2016)

Late-onset pattern macular dystrophy mimicking ABCA4 and PRPH2 disease is caused by a homozygous frameshift mutation in ROM1
por: Ma, Chu Jian, et al.
Publicado: (2019)

Progressive Choriocapillaris Impairment in ABCA4 Maculopathy Is Secondary to Retinal Pigment Epithelium Atrophy
por: Jauregui, Ruben, et al.
Publicado: (2020)

Establishment of the iPSC line CUIMCi005-A from a patient with Stargardt disease for retinal organoid culture
por: Su, Pei-Yin, et al.
Publicado: (2022)

Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease
por: Zernant, Jana, et al.
Publicado: (2022)

Comparisons Among Optical Coherence Tomography and Fundus Autofluorescence Modalities as Measurements of Atrophy in ABCA4-Associated Disease
por: Parmann, Rait, et al.
Publicado: (2022)

Mutations in GPR143/OA1 and ABCA4 Inform Interpretations of Short-Wavelength and Near-Infrared Fundus Autofluorescence
por: Paavo, Maarjaliis, et al.
Publicado: (2018)

Genetic and Clinical Analysis of ABCA4-Associated Disease in African American Patients
por: Zernant, Jana, et al.
Publicado: (2014)

Multi-platform imaging in ABCA4-Associated Disease
por: Chen, Lijuan, et al.
Publicado: (2019)

Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy
por: Collison, Frederick T., et al.
Publicado: (2019)

Retinal Pigment Epithelium Atrophy in Recessive Stargardt Disease as Measured by Short-Wavelength and Near-Infrared Autofluorescence
por: Jauregui, Ruben, et al.
Publicado: (2021)

Familial discordance in Stargardt disease
por: Burke, Tomas R., et al.
Publicado: (2012)

Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations
por: Cremers, Frans P.M., et al.
Publicado: (2020)

Insights Into PROM1-Macular Disease Using Multimodal Imaging
por: Paavo, Maarjaliis, et al.
Publicado: (2023)

A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease
por: Kolesnikova, Masha, et al.
Publicado: (2022)

Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans
por: Joo, Kwangsic, et al.
Publicado: (2019)

Functional Analysis of Retinal Flecks in Stargardt Disease
por: Verdina, Tommaso, et al.
Publicado: (2012)

Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability
por: Corradi, Zelia, et al.
Publicado: (2023)

Association between genotype and phenotype in families with mutations in the ABCA4 gene
por: Kjellström, Ulrika
Publicado: (2014)

Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates
por: Pfau, Maximilian, et al.
Publicado: (2022)

Genotypes Predispose Phenotypes—Clinical Features and Genetic Spectrum of ABCA4-Associated Retinal Dystrophies
por: Sung, Yu-Chi, et al.
Publicado: (2020)

Identification of Four Novel Variants and Determination of Genotype–Phenotype Correlations for ABCA4 Variants Associated With Inherited Retinal Degenerations
por: Zhu, Qing, et al.
Publicado: (2021)

Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis
por: Hotz, Alrun, et al.
Publicado: (2023)

Moiréless correlations in ABCA graphene
por: Kerelsky, Alexander, et al.
Publicado: (2021)

A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype‐phenotype correlations
por: Montalván‐Suárez, Martha, et al.
Publicado: (2019)

IDH Mutations: Genotype-Phenotype Correlation and Prognostic Impact
por: Wang, Xiao-Wei, et al.
Publicado: (2014)

Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias
por: Briggs, Michael D, et al.
Publicado: (2014)

Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease
por: Fujinami, Kaoru, et al.
Publicado: (2014)

Clinical Observation and Genotype-Phenotype Analysis of ABCA4-Related Hereditary Retinal Degeneration before Gene Therapy
por: Xiao, Xuan, et al.
Publicado: (2022)

Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease
por: Garces, Fabian, et al.
Publicado: (2018)

Clinical Deep Phenotyping of ABCA7 Mutation Carriers
por: Campbell, Alana S., et al.
Publicado: (2022)

Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series
por: Oh, Jin Kyun, et al.
Publicado: (2022)

Phenotype–genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion–insertion variant causing a splicing defect
por: Huang, Di, et al.
Publicado: (2020)

ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis
por: Maia-Lopes, Susana, et al.
Publicado: (2009)

Quantifying Fundus Autofluorescence in Patients With Retinitis Pigmentosa
por: Schuerch, Kaspar, et al.
Publicado: (2017)

Genotype‐phenotype correlation and prognostic impact in Chinese patients with Alport Syndrome
por: Shang, Shunlai, et al.
Publicado: (2019)

Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation
por: Van den Bossche, Tobi, et al.
Publicado: (2016)

Monitoring Lesion Area Progression in Stargardt Disease: A Comparison of En Face Optical Coherence Tomography and Fundus Autofluorescence
por: Greenstein, Vivienne C., et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_ttph845qev2dp3a2vjffs24etb