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LCA5 gene
Known as:
LEBERCILIN
, CHROMOSOME 6 OPEN READING FRAME 152
, LCA5
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National Institutes of Health
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Related topics
Related topics
2 relations
LEBER CONGENITAL AMAUROSIS 5
Leber 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
Margo Dona
,
R. Bachmann-Gagescu
,
+18 authors
E. van Wijk
PLoS Genetics
2015
Corpus ID: 215206293
Ciliopathies are Mendelian disorders caused by dysfunction of cilia, ubiquitous organelles involved in fluid propulsion (motile…
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Highly Cited
2014
Highly Cited
2014
Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration.
M. Karlstetter
,
N. Sorusch
,
+10 authors
T. Langmann
Human Molecular Genetics
2014
Corpus ID: 11939593
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*
Y. Texier
,
G. Toedt
,
+9 authors
K. Boldt
Molecular & Cellular Proteomics
2014
Corpus ID: 12797552
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
D. Mackay
,
A. Borman
,
+34 authors
R. Koenekoop
Human Mutation
2013
Corpus ID: 10081306
This study was undertaken to investigate the prevalence of sequence variants in LCA5 in patients with Leber congenital amaurosis…
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Highly Cited
2009
Highly Cited
2009
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
K. Coene
,
R. Roepman
,
+15 authors
A. D. de Brouwer
American Journal of Human Genetics
2009
Corpus ID: 25922725
2009
2009
OFD 1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA 5-Encoded Lebercilin
K. Coene
,
R. Roepman
,
+15 authors
A. Brouwer
2009
Corpus ID: 9811014
We ascertained a multi-generation Malaysian family with Joubert syndrome (JS). The presence of asymptomatic obligate carrier…
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2009
2009
Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: Retained photoreceptors adjacent to retinal disorganization
S. Jacobson
,
T. Aleman
,
+6 authors
E. Stone
Molecular Vision
2009
Corpus ID: 9159214
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
Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein.
E. van Wijk
,
F. Kersten
,
+11 authors
H. Kremer
Human Molecular Genetics
2009
Corpus ID: 12728759
Usher syndrome (USH) and Leber congenital amaurosis (LCA) are autosomal recessive disorders resulting in syndromic and non…
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2008
2008
Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis
V. Ramprasad
,
N. Soumittra
,
+7 authors
GOVINDASAMY KUMARAMANICKAVEL
Molecular Vision
2008
Corpus ID: 7717640
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
A. I. Hollander
,
R. Koenekoop
,
+30 authors
R. Roepman
Nature Genetics
2007
Corpus ID: 13772221
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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