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Null mutations in LTBP2 cause primary congenital glaucoma.
TLDR
It is reported that null mutations in LTBP2 cause primary congenital glaucoma in four consanguineous families from Pakistan and in patients of Gypsy ethnicity, and localization ofLTBP2 in the anterior segment of the eye, at the ciliary body, and particularly the c auxiliary process is confirmed. Expand
Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.
TLDR
A second gene at the EVR1 locus, low-density-lipoprotein receptor-related protein 5 (LRP5), a Wnt coreceptor is described, which further underlines the significance of Wnt signaling in the vascularization of the eye and highlights the potential dangers of using multiple families to refine genetic intervals in gene-identification studies. Expand
Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta
TLDR
The identification of CNNM4 as the causative gene for Jalili syndrome, characterized by syndromic CRD with AI, has the potential to provide new insights into the roles of metal transport in visual function and biomineralization. Expand
Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)
TLDR
Seven different mutations in the SLC4A11 gene are described in ten families with autosomal recessive CHED, which cause loss of function of the protein either by blocking its membrane targeting or nonsense-mediated decay. Expand
prp8 mutations that cause human retinitis pigmentosa lead to a U5 snRNP maturation defect in yeast
TLDR
A novel assembly pathway is proposed for U5 snRNP complexes that is disrupted by mutations that cause human RP, apparently as a consequence of disrupting the interaction of Prp8p with Brr2p. Expand
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).
TLDR
Seven different missense mutations in the splicing factor gene PRPC8 in adRP families offer compelling evidence for a novel pathway to retinal degeneration. Expand
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.
TLDR
The identification of mutations in a third pre-mRNA splicing factor gene further highlights a novel mechanism of photoreceptor degeneration due to defects in the splicing process. Expand
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.
TLDR
The result indicates that FZD4 mutations are responsible for only 20% of FEVR index cases and suggests that the other FEVR loci may account for more cases than previously anticipated. Expand
Real-time PCR based on SYBR-Green I fluorescence: An alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions
TLDR
A new assay based on SYBR-Green I binding that is quick, reliable, easily optimised and compares well with the published assay, providing accurate diagnostic results in less time, from less biopsy material and at less cost than assays currently employed such as FISH or Southern blotting. Expand
Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.
TLDR
A significant enrichment of potentially pathologic heterozygous alleles in ZNF469 associated with the development of keratoconus is found resulting in a relative risk of 12.0.5% in 12% of ker atoconus patients, highlighting Z NF469 as the most significant genetic factor responsible for keratconus identified to date. Expand
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