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E. van de Vosse

Researcher at Leiden University Medical Center

Publications -  24
Citations -  702

E. van de Vosse is an academic researcher from Leiden University Medical Center. The author has contributed to research in topics: Coxiella burnetii & Gene mapping. The author has an hindex of 12, co-authored 24 publications receiving 647 citations. Previous affiliations of E. van de Vosse include Leiden University.

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Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)

J.T. Dendunnen, +64 more
TL;DR: The mutation analysis revealed a high preponderance of mutations involving or creating cysteine residues, pointing to sites important for the tertiary folding and/or protein function, and highlights several amino acids which may be involved in XLRS1-specific protein-protein interactions.
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PARK2/PACRG polymorphisms and susceptibility to typhoid and paratyphoid fever

TL;DR: It is suggested that this polymorphism in PARK2/PACRG plays a small but significant role in susceptibility to the intracellular pathogens S. typhi and S. paratyphi A, intrACEllular pathogens that upon infection of humans share with mycobacteria aspects of the hosts’ immune response.
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A Novel Human Serine-Threonine Phosphatase Related to the Drosophila Retinal Degeneration C (rdgC) Gene is Selectively Expressed in Sensory Neurons of Neural Crest Origin

TL;DR: While rdgC is expressed in the visual system of the fly, as well as in the mushroom bodies of the central brain, it is found that Ppef is highly expressed in sensory neurons of the dorsal root ganglia and neural crest-derived cranial ganglia, which suggests a role for serine-threonine phosphatases in mammalian development.
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Variation of CNV distribution in five different ethnic populations.

TL;DR: The data suggest that insight into absolute DNA copy numbers for loci exhibiting CNV is required to determine their potential contribution to normal phenotypic variation and, in addition, disease susceptibility.