Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Restoring Sight: The Journey of AIPL1 from Discovery to Therapy.
Galieva A et al.
International Journal of Molecular Sciences, 2025
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.
Reis LM et al.
Human Molecular Genetics, 2021
Autophagy and Mitophagy-Related Pathways at the Crossroads of Genetic Pathways Involved in Familial Sarcoidosis and Host-Pathogen Interactions Induced by Coronaviruses.
Pacheco Y et al.
Cells, 2021
AIPL1: A specialized chaperone for the phototransduction effector.
Yadav RP et al.
Cellular Signalling, 2017
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
Aryl Hydrocarbon Receptor-interacting Protein-like 1 Is an Obligate Chaperone of Phosphodiesterase 6 and Is Assisted by the γ-Subunit of Its Client.
Gopalakrishna KN et al.
The Journal of Biological Chemistry, 2016
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.
Astuti GD et al.
European Journal of Human Genetics : Ejhg, 2016
Interaction of aryl hydrocarbon receptor-interacting protein-like 1 with the farnesyl moiety.
Majumder A et al.
The Journal of Biological Chemistry, 2013
Mutational screening of LCA genes emphasizing RPE65 in South Indian cohort of patients.
Verma A et al.
Plos One, 2013
Structural studies on AIPL1 and its functional interactions with NUB1 to identify key interacting residues in LCA4.
Muthukumaran S et al.
Journal of Ocular Biology, Diseases, and Informatics, 2012
Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.
Tan MH et al.
Plos One, 2012
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
Coppieters F et al.
Human Mutation, 2010
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
Stone EM
American Journal of Ophthalmology, 2007
An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.
Henderson RH et al.
Investigative Ophthalmology & Visual Science, 2007
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.
Yzer S et al.
Investigative Ophthalmology & Visual Science, 2006
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.
Zernant J et al.
Investigative Ophthalmology & Visual Science, 2005
The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1.
Akey DT et al.
Human Molecular Genetics, 2002