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
Computational Evidence for Digenic Contribution of AIPL1 and BBS2 Rare Variants in Inherited Retinal Dystrophy.
Alibrandi S et al.
International Journal of Molecular Sciences, 2025
Whole-exome sequencing screening for candidate genes and potential pathogenic variants associated with early-onset high myopia in 47 Chinese families.
Rui X et al.
Scientific Reports, 2025
Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.
D'Agostino Y et al.
Diagnostics (basel, Switzerland), 2022
Case Report: A Novel Pathomechanism in PEComa by the Loss of Heterozygosity of TP53.
Butz H et al.
Frontiers in Oncology, 2022
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa.
Weisz Hubshman M et al.
Human Molecular Genetics, 2018
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
Extended conformation of the proline-rich domain of human aryl hydrocarbon receptor-interacting protein-like 1: implications for retina disease.
Yadav RP et al.
Journal of Neurochemistry, 2015
The Leber congenital amaurosis protein AIPL1 and EB proteins co-localize at the photoreceptor cilium.
Hidalgo-de-Quintana J et al.
Plos One, 2015
Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.
Wang J et al.
Investigative Ophthalmology & Visual Science, 2014
Interaction of aryl hydrocarbon receptor-interacting protein-like 1 with the farnesyl moiety.
Majumder A et al.
The Journal of Biological Chemistry, 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
Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.
Wiszniewski W et al.
Human Genetics, 2011
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
Walia S et al.
Ophthalmology, 2010
Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.
Sundaresan P et al.
Molecular Vision, 2009
The Leber congenital amaurosis protein AIPL1 functions as part of a chaperone heterocomplex.
Hidalgo-de-Quintana J et al.
Investigative Ophthalmology & Visual Science, 2008
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
Stone EM
American Journal of Ophthalmology, 2007
CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of 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 Leber congenital amaurosis protein AIPL1 modulates the nuclear translocation of NUB1 and suppresses inclusion formation by NUB1 fragments.
van der Spuy J et al.
The Journal of Biological Chemistry, 2004
Purification, characterisation and intracellular localisation of aryl hydrocarbon interacting protein-like 1 (AIPL1) and effects of mutations associated with inherited retinal dystrophies.
Gallon VA et al.
Biochimica Et Biophysica Acta, 2004
Abolished interaction of NUB1 with mutant AIPL1 involved in Leber congenital amaurosis.
Kanaya K et al.
Biochemical and Biophysical Research Communications, 2004
The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1.
Akey DT et al.
Human Molecular Genetics, 2002
The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina.
van der Spuy J et al.
Human Molecular Genetics, 2002