John Devane, Elisabeth Ott, Eric G Olinger, Daniel Epting, Eva Decker, Anja Friedrich, Nadine Bachmann, Gina Renschler, Tobias Eisenberger, Andrea Briem-Richter, Enke Freya Grabhorn, Laura Powell, Ian J Wilson, Sarah J Rice, Colin G Miles, Katrina Wood, Palak Trivedi, Gideon Hirschfield, Andrea Pietrobattista, Elizabeth Wohler, Anya Mezina, Nara Sobreira, Emanuele Agolini, Giuseppe Maggiore, Mareike Dahmer-Heath, Ali Yilmaz, Melanie Boerries, Patrick Metzger, Christoph Schell, Inga Grünewald, Martin Konrad, Jens König, Bernhard Schlevogt, John A Sayer, Carsten Bergmann
Organ fibrosis is a shared endpoint of many diseases, yet underlying mechanisms are not well understood. Several pathways governed by the primary cilium, a sensory antenna present on most vertebrate cells, have been linked with fibrosis. Ciliopathies usually start early in life and represent a considerable disease burden. We performed massively parallel sequencing by using cohorts of genetically unsolved individuals with unexplained liver and kidney failure and correlated this with clinical, imaging, and histopathological analyses...
May 5, 2022: American Journal of Human Genetics