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A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration.
TLDR
It is shown that factor H (HF1), the major inhibitor of the alternative complement pathway, accumulates within drusen and is synthesized by the retinal pigmented epithelium, implicating HF1 function in the pathogenetic mechanisms underlying AMD. Expand
Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
TLDR
This ability to analyze most - if not all - deafness genes, as opposed to one or a few genes currently, will greatly improve DNA diagnostics, provide epidemiological data on gene-based mutation frequencies, and reveal novel genotype-phenotype correlations. Expand
Sensorineural hearing loss in children
TLDR
Establishment of vaccination programmes for several vaccine-preventable infectious diseases would reduce rates of acquired SNHL and focused genetic counselling and health education might lead to a decrease in the prevalence of inherited SNHL in these countries. Expand
GJB2 mutations and degree of hearing loss: a multicenter study.
TLDR
The association between genotype and degree of hearing loss in persons with HI and biallelic GJB2 mutations was assessed and two genotypes had significantly more-severe HI than that of 35delG homozygotes. Expand
C3 glomerulopathy: consensus report
TLDR
The definition of C3 glomerulopathy, appropriate complement investigations that should be performed in these patients, and how complement therapeutics should be explored in the condition are discussed. Expand
Membranoproliferative glomerulonephritis type II (dense deposit disease): an update.
TLDR
The development of molecular diagnostic tools and new therapies directed at controlling the AP of the complement cascade either locally in the kidney or at the systemic level may lead to effective treatments for MPGN II. Expand
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
TLDR
It is demonstrated that all three mutations are crucial for Eya1-Six1 interaction, and the two mutations within the homeodomain region are essential for specific Six1-DNA binding. Expand
Branchio‐oto‐renal syndrome: The mutation spectrum in EYA1 and its phenotypic consequences
TLDR
It is concluded that genetic testing of EYA1 should include analysis of the coding sequence and a screen for complex rearrangements, as well as new criteria for the clinical diagnosis of BOR syndrome. Expand
Eculizumab for dense deposit disease and C3 glomerulonephritis.
TLDR
Clinical and histopathologic data suggest a response to eculizumab in some but not all subjects with dense deposit disease and C3 glomerulonephritis and Elevation of serum membrane attack complex before treatment may predict response. Expand
Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice.
TLDR
It is concluded that deafness in Slc17a8-deficient mice is due to a specific defect of vesicular glutamate uptake and release and that VGLUT3 is essential for auditory coding at the IHC synapse. Expand
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