Publications by authors named "J D Amack"

Organs and tissues must change shape in precise ways during embryonic development to execute their functions. Multiple mechanisms including biochemical signaling pathways and biophysical forces help drive these morphology changes, but it has been difficult to tease apart their contributions, especially from tissue-scale dynamic forces that are typically ignored. We use a combination of mathematical models and experiments to study a simple organ in the zebrafish embryo called Kupffer's vesicle.

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Several of our internal organs, including heart, lungs, stomach, and spleen, develop asymmetrically along the left-right (LR) body axis. Errors in establishing LR asymmetry, or laterality, of internal organs during early embryonic development can result in birth defects. In several vertebrates-including humans, mice, frogs, and fish-cilia play a central role in establishing organ laterality.

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Vital internal organs display a left-right (LR) asymmetric arrangement that is established during embryonic development. Disruption of this LR asymmetry-or laterality-can result in congenital organ malformations. (SIT) is a complete concordant reversal of internal organs that results in a low occurrence of clinical consequences.

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Article Synopsis
  • Meckel syndrome, nephronophthisis, Joubert syndrome, and Bardet-Biedl syndrome are linked to mutations in proteins at the ciliary transition zone, indicating these proteins may have different functions but can also lead to multiple syndromes from mutations in a single gene.
  • A study analyzed ten zebrafish mutants for these TZ proteins, revealing variation in phenotypes that suggest specific tissue functions and highlighting that different outcomes can occur from mutations in the same gene.
  • The research also showed that unique CRISPR/Cas9 techniques can replicate certain genetic phenotypes and has identified several new gene candidates associated with ciliary functions.
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Cilia are hair-like structures that project from the surface of cells. In vertebrates, most cells have an immotile primary cilium that mediates cell signaling, and some specialized cells assemble one or multiple cilia that are motile and beat synchronously to move fluids in one direction. Gene mutations that alter cilia structure or function cause a broad spectrum of disorders termed ciliopathies that impact virtually every system in the body.

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