Publications by authors named "M H Zech"

It is generally accepted that a weakening of the North Atlantic thermohaline circulation caused the Younger Dryas cooling. Although the role of seasonality was emphasized previously, this aspect is rarely considered yet, and it remains elusive how this impacted hydroclimate during winters and summers across Central Europe. Here, we coupled biomarker-based δO and δH from Bergsee in southern Germany to reconstruct deuterium excess as a proxy for evaporation history from the Bølling-Allerød to the Preboreal.

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Importance: Single gene variants can cause cerebral palsy (CP) phenotypes, yet the impact of genetic diagnosis on CP clinical management has not been systematically evaluated.

Objective: To evaluate how frequently genetic testing results would prompt changes in care for individuals with CP and the clinical utility of precision medicine therapies.

Data Sources: Published pathogenic or likely pathogenic variants in OMIM genes identified with exome sequencing in clinical (n = 1345) or research (n = 496) cohorts of CP were analyzed.

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Article Synopsis
  • The release of Genome Aggregation Database (gnomAD) v4 significantly increases sample size, impacting the interpretation of genetic variants, particularly in dystonia.
  • A comparison of variants linked to common forms of isolated dystonia showed that most (77.7%) remained absent in the new version; however, some well-known pathogenic variants were newly recorded in v4.
  • Despite finding more dystonia-related alleles in gnomAD v4, the authors stress that the presence of these variants in population data doesn't automatically mean they aren't pathogenic.
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Advances in genetic technologies and disease modeling have greatly accelerated the pace of introducing and validating molecular-genetic contributors to disease. In dystonia, there is a growing convergence across multiple distinct forms of the disease onto core biological processes. Here, we discuss two of these, the endosome-autophagosome-lysosome pathway and the integrated stress response, to highlight recent advances in the field.

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