Publications by authors named "Gerard van Duijnhoven"
Objectives: To perform genetic analysis and to analyze cochleovestibular impairment features in a newly identified Dutch family with nonsyndromic autosomal dominant hearing impairment (DFNA9).
Study Design: Genetic analysis was performed using microsatellite markers and single nucleotide polymorphisms. Audiometric data were collected and analyzed longitudinally.
Objectives: To perform linkage analysis and to outline hearing loss characteristics in a family exhibiting a nonsyndromic, autosomal dominant type of progressive sensorineural hearing loss.
Design: Genetic analysis was performed using microsatellite markers. Audiometric data were collected and analyzed longitudinally.
Article Synopsis
- A novel DFNA5 mutation was discovered in a Dutch family, affecting 18 of the 37 examined members, causing non-syndromic, symmetric sensorineural hearing impairment starting at age 37, with a significant decline in speech recognition over time.
- The mutation involves a nucleotide substitution in intron 7, leading to skipping of exon 8 in some transcripts, resulting in a gradual hearing deterioration of approximately 1.8 dB per year at 1 kHz and a 30 dB hearing loss in high frequencies in early life.
- A second DFNA5 mutation was identified, producing similar hearing impairment patterns but with better speech recognition outcomes compared to the original family mutation.
Antigen-presenting cells are localized in essentially every tissue, where they operate at the interface of innate and acquired immunity by capturing pathogens and presenting pathogen-derived peptides to T cells. C-type lectins are important pathogen recognition receptors and the C-type lectin, dendritic cell-specific intercellular adhesion molecule 3-grabbing nonintegrin (DC-SIGN), is unique in that, in addition to pathogen capture, it regulates adhesion processes such as DC trafficking and T-cell synapse formation. We have isolated a murine homologue of DC-SIGN that is identical to the previously reported murine homologue mSIGNR1.
View Article and Find Full Text PDFThe novel dendritic cell (DC)-specific human immunodeficiency virus type 1 (HIV-1) receptor DC-SIGN plays a key role in the dissemination of HIV-1 by DC. DC-SIGN is thought to capture HIV-1 at mucosal sites of entry, facilitating transport to lymphoid tissues, where DC-SIGN efficiently transmits HIV-1 to T cells. DC-SIGN is also important in the initiation of immune responses by regulating DC-T cell interactions through intercellular adhesion molecule 3 (ICAM-3).
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