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LCA5 gene

Known as: LEBERCILIN, CHROMOSOME 6 OPEN READING FRAME 152, LCA5 
National Institutes of Health

Related topics

Related topics

2 relations
LEBER CONGENITAL AMAUROSIS 5Leber Congenital Amaurosis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish
Ciliopathies are Mendelian disorders caused by dysfunction of cilia, ubiquitous organelles involved in fluid propulsion (motile… 
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2014
2014
Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration.
Mutations in the FAM161A gene were previously identified as the cause for autosomal-recessive retinitis pigmentosa 28. To study… 
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2014
2014
Elution Profile Analysis of SDS-induced Subcomplexes by Quantitative Mass Spectrometry*
Analyzing the molecular architecture of native multiprotein complexes via biochemical methods has so far been difficult and error… 
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Review
2013
Review
2013
Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype Correlations
This study was undertaken to investigate the prevalence of sequence variants in LCA5 in patients with Leber congenital amaurosis… 
2011
2011
Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice.
The mutations that cause Leber congenital amaurosis (LCA) lead to photoreceptor cell death at an early age, causing childhood… 
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Highly Cited
2009
Highly Cited
2009
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
We ascertained a multi-generation Malaysian family with Joubert syndrome (JS). The presence of asymptomatic obligate carrier… 
2009
2009
Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: Retained photoreceptors adjacent to retinal disorganization
PURPOSE To determine the retinal disease expression in the rare form of Leber congenital amaurosis (LCA) caused by Lebercilin… 
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2009
2009
OFD 1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA 5-Encoded Lebercilin
We ascertained a multi-generation Malaysian family with Joubert syndrome (JS). The presence of asymptomatic obligate carrier… 
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2008
2008
Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis
Purpose Leber congenital amaurosis (LCA) is one of the most common causes of hereditary blindness in infants. To date, mutations… 
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Highly Cited
2007
Highly Cited
2007
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis
Leber congenital amaurosis (LCA) causes blindness or severe visual impairment at or within a few months of birth. Here we show… 
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