Publications by authors named "D Kolbe"

Parental age impacts offspring quantity and quality. Most prior research focused on maternal age. Since in most organisms the mother produces the costly eggs plus provides all or most parental care, it is difficult to distinguish maternal effects mediated via the egg from later maternal care.

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Article Synopsis
  • - The study analyzed 127 individuals from 16 medical centers across 6 countries to examine the relationship between TMPRSS3 gene variants and hearing loss, revealing 47 unique variants and their impact on hearing thresholds.
  • - Individuals carrying missense variants showed different hearing loss progression rates and performance in speech recognition tests post-cochlear implant, with age at implantation being a critical factor.
  • - This research represents the largest investigation into TMPRSS3 genotype-phenotype correlations, offering valuable insights for genetic counseling and developing new treatments for hearing loss.
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Hearing loss is the leading sensory deficit, affecting ~ 5% of the population. It exhibits remarkable heterogeneity across 223 genes with 6328 pathogenic missense variants, making deafness-specific expertise a prerequisite for ascribing phenotypic consequences to genetic variants. Deafness-implicated variants are curated in the Deafness Variation Database (DVD) after classification by a genetic hearing loss expert panel and thorough informatics pipeline.

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Variation in apolipoprotein E (APOE) has been shown to have the strongest genetic effect on human longevity. The aim of this study was to unravel the evolutionary history of the three major APOE alleles in Europe by analysing ancient samples up to 12,000 years old. We detected significant allele frequency shifts between populations and over time.

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Hearing loss is the leading sensory deficit, affecting ~ 5% of the population. It exhibits remarkable heterogeneity across 223 genes with 6,328 pathogenic missense variants, making deafness-specific expertise a prerequisite for ascribing phenotypic consequences to genetic variants. Deafness-implicated variants are curated in the Deafness Variation Database (DVD) after classification by a genetic hearing loss expert panel and thorough informatics pipeline.

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