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X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.
TLDR
The natural history of X-linked AS and correlations with COL4A5 mutations have been established in a large cohort of male patients and these data could be used for further evaluation of therapeutic approaches.
Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling.
TLDR
The intrafamilial phenotype of an individual mutation was found to be very consistent with regards to the manifestation of deafness, lenticonus and the time point of onset of ESRF.
X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study.
TLDR
Because of the absence of genotype-phenotype correlation and the large intrafamilial phenotypic heterogeneity, early prognosis of the disease in X-linked Alport syndrome carriers remains moot.
Markers of foamy virus infections in monkeys, apes, and accidentally infected humans: appropriate testing fails to confirm suspected foamy virus prevalence in humans.
TLDR
Evaluation of 2688 sera from suspected high-risk areas did not reveal FV-specific antibodies in a single case, suggesting FVs are unlikely--at present--to circulate in human populations.
Type IV Collagen of the Glomerular Basement Membrane
TLDR
Findings indicate that the NC1 monomers contain recognition sequences for selection of chains and protomers that are sufficient to encode the assembly of the α1·α2 and α3·α4·α5 networks of GBM.
Comparative analysis of the noncollagenous NC1 domain of type IV collagen: Identification of structural features important for assembly, function, and pathogenesis
TLDR
The results provide a rationale for defining the epitope that binds Goodpasture autoantibodies and a framework for understanding how certain NC1 mutations may lead to Alport Syndrome.
The Goodpasture Autoantigen
TLDR
The amino acid sequences 17–31 and 127–141 in α3(IV)NC1 have thus been shown to contain the critical residues of one or two disulfide bond-dependent conformational autoepitopes that bind GP autoantibodies.
Course and prognosis of anti-basement membrane antibody (anti-BM-Ab)-mediated disease: report of 35 cases.
TLDR
The earlier therapy starts, the better the result, and patients presenting early with a serum creatinine < 200 mumol/l and without severe glomerular alterations gained the most benefit from therapy, indicating that outcome may be improved by early diagnosis.
The goodpasture autoantigen. Mapping the major conformational epitope(s) of alpha3(IV) collagen to residues 17-31 and 127-141 of the NC1 domain.
TLDR
The amino acid sequences 17-31 and 127-141 in alpha3(IV)NC1 have thus been shown to contain the critical residues of one or two disulfide bond-dependent conformational autoepitopes that bind GP autoantibodies.
Infectious DNA of the human spumaretrovirus.
TLDR
An infectious molecular clone of the human Spumaretrovirus ( HSRV) was constructed using viral DNA and cDNA clones and it was found that pHSRV is able to transactivate the viral LTR.
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