Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations

Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations

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 consi...

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Main Authors: Agolini, E. (Author), Bachmann, N. (Author), Bergmann, C. (Author), Boerries, M. (Author), Briem-Richter, A. (Author), Dahmer-Heath, M. (Author), Decker, E. (Author), Devane, J. (Author), Eisenberger, T. (Author), Epting, D. (Author), Friedrich, A. (Author), Genomics England Research Consortium (Author), Grabhorn, E.F (Author), Grünewald, I. (Author), Hirschfield, G. (Author), König, J. (Author), Konrad, M. (Author), Maggiore, G. (Author), Metzger, P. (Author), Mezina, A. (Author), Miles, C.G (Author), Olinger, E.G (Author), Ott, E. (Author), Pietrobattista, A. (Author), Powell, L. (Author), Renschler, G. (Author), Rice, S.J (Author), Sayer, J.A (Author), Schell, C. (Author), Schlevogt, B. (Author), Sobreira, N. (Author), Trivedi, P. (Author), Wilson, I.J (Author), Wohler, E. (Author), Wood, K. (Author), Yilmaz, A. (Author)
Format: Article
Language:English
Published: Cell Press 2022
Subjects:
ciliopathy
genetic disease burden
hypertrophic cardiomyopathy
internal medicine genetics
kidney failure
liver fibrosis
organ fibrosis
tubby-like proteins
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