Publications by authors named "P Tylzanowski"

Article Synopsis
  • Genetic variants in the TBC1D24 gene are linked to non-syndromic autosomal dominant hearing loss (ADHL), but their molecular mechanisms remain unclear.
  • Researchers used zebrafish to study TBC1D24's role in hearing and how specific harmful mutations affect its function.
  • Experiment results showed that knocking down TBC1D24 led to ear structure defects and movement issues in zebrafish embryos, with harmful mutations interfering more than normal gene expression, thus pinpointing TBC1D24's critical role in inner ear development and ciliary function.
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Gollop-Wolfgang complex (GWC) is a rare congenital limb anomaly characterized by tibial aplasia with femur bifurcation, ipsilateral bifurcation of the thigh bone, and split hand and monodactyly of the feet, resulting in severe and complex limb deformities. The genetic basis of GWC, however, has remained elusive. We studied a three-generation family with four GWC-affected family members.

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Tobacco smoking is one of the most serious health problems. Potentially lethal effects of nicotine for adults can occur with as little as 30 to 60 mg, although severe symptoms can arise with lower doses. Furthermore, the route of administration also influences the toxicity.

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The formation of the synovial joint begins with the visible emergence of a stripe of densely packed mesenchymal cells located between distal ends of the developing skeletal anlagen called the interzone. Recently the transcriptome of the early synovial joint was reported. Knowledge about enhancers would complement these data and lead to a better understanding of the control of gene transcription at the onset of joint development.

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Early limb bud development has been of considerable interest for the study of embryological development and especially morphogenesis. The focus has long been on biochemical signalling and less on cell biomechanics and mechanobiology. However, their importance cannot be understated since tissue shape changes are ultimately controlled by active forces and bulk tissue rheological properties that in turn depend on cell-cell interactions as well as extracellular matrix composition.

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