Skip to search formSkip to main contentSkip to account menu

AIPL1 gene

Known as: AIPL1, ARYLHYDROCARBON-INTERACTING RECEPTOR PROTEIN-LIKE 1, aryl hydrocarbon receptor interacting protein like 1 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Investigation of Aberrant Splicing Induced by AIPL1 Variations as a Cause of Leber Congenital Amaurosis.
Purpose Biallelic mutations in AIPL1 cause Leber congenital amaurosis (LCA), a devastating retinal degeneration characterized by… 
2014
2014
AIPL1, A protein linked to blindness, is essential for the stability of enzymes mediating cGMP metabolism in cone photoreceptor cells.
Defects in the photoreceptor-specific gene encoding aryl hydrocarbon receptor interacting protein like-1 (AIPL1) are linked to… 
2013
2013
Mutational Screening of LCA Genes Emphasizing RPE65 in South Indian Cohort of Patients
Background Leber congenital amaurosis (LCA) is the most severe form of inherited retinal visual impairment in children. So far… 
2012
2012
Leber Congenital Amaurosis Associated with AIPL1: Challenges in Ascribing Disease Causation, Clinical Findings, and Implications for Gene Therapy
Leber Congenital Amaurosis (LCA) and Early Childhood Onset Severe Retinal Dystrophy are clinically and genetically heterogeneous… 
2011
2011
Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy.
PURPOSE To evaluate the suitability of gene delivery-based approaches as potential treatment of Leber congenital amaurosis 4… 
Highly Cited
2007
Highly Cited
2007
An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.
PURPOSE Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are genetically heterogeneous, with 11… 
2007
2007
Further evidence of autosomal-dominant Leber congenital amaurosis caused by heterozygous CRX mutation
Dear Editor: Leber congenital amaurosis (LCA; OMIM 204000) is the earliest and most severe form of inherited retinal dystrophy… 
2006
2006
Effects of low AIPL1 expression on phototransduction in rods.
PURPOSE To investigate the impact of aryl hydrocarbon receptor-interacting protein-like (AIPL)-1 on photoreception in rods… 
Highly Cited
2005
Highly Cited
2005
EVALUATION OF GENOTYPE–PHENOTYPE ASSOCIATIONS IN LEBER CONGENITAL AMAUROSIS
Purpose: To describe the clinical phenotypes associated with various genotypes known to cause Leber congenital amaurosis (LCA… 
2003
2003
Mutation screening of Pakistani families with congenital eye disorders.
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)