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Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates
TLDR
It is shown that mice with mutations in genes involved in Bardet-Biedl syndrome share phenotypes with PCP mutants including open eyelids, neural tube defects and disrupted cochlear stereociliary bundles, and that Vangl2 localizes to the basal body and axoneme of ciliated cells, suggesting that cilia are intrinsically involved in PCP processes.
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
TLDR
It is shown that mutations in MKS1, MKS3 and CEP290 either can cause Bardet-Biedl syndrome (BBS) or may have a potential epistatic effect on mutations in known BBS-associated loci, and that BBS and MKS, although distinct clinically, are allelic forms of the same molecular spectrum.
Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype–phenotype correlations as a strategy for molecular diagnosis
TLDR
A comprehensive mutational analysis of the all known genes in 179 unrelated LCA patients, including 52 familial and 127 sporadic (27/127 consanguineous) cases, and decisional flowcharts directing the molecular analysis of LCA genes in a given case are drawn.
Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis
TLDR
Two missense mutations (F589S) and two frameshift mutations (nt 460 del C, nt 693 del C) of the retinal guanylate cyclase gene in four unrelated LCA1 probands of North African ancestry are reported and ascribe LCA 1 to an impaired production of cGMP in the retina, with permanent closure of cGsMP-gated cation channels.
Mutation spectrum and splicing variants in the OPA1 gene
TLDR
It is hypothesize that at least two modifications of OPA1 may lead to dominant optic atrophy, that is alteration in GTPase activity and loss of the last seven C-terminal amino acids that putatively interact with other proteins.
[Epidemiology of age related macular degeneration].
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
TLDR
The HPO’s interoperability with other ontologies has enabled it to be used to improve diagnostic accuracy by incorporating model organism data and plays a key role in the popular Exomiser tool, which identifies potential disease-causing variants from whole-exome or whole-genome sequencing data.
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype
TLDR
It is shown that all patients were affected with the cone‐rod subtype of the disease whatever their NPHP6/CEP290 genotype, and conversely to other LCA genes, N PHP6 is involved in families of European descent only.
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.
TLDR
A new BBS gene is identified, BBS12, which is vertebrate specific and, together with BBS6 and BBS10, defines a novel branch of the type II chaperonin superfamily, and is likely to perform ciliary functions specific to vertebrates that are important in the pathophysiology of the syndrome.
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