Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.

@article{Bergmann2008LossON,
  title={Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.},
  author={Carsten Bergmann and Manfred Fliegauf and Nadina Ortiz Bruechle and Valeska Frank and Heike Olbrich and Janbernd Kirschner and Bernhard Schermer and Ingolf Schmedding and Andreas Kispert and Bettina Kraenzlin and Gudrun Nuernberg and Christian Becker and Tiemo Grimm and Gundula Girschick and Sally Ann Lynch and Peter Kelehan and Jan Senderek and Thomas J. Neuhaus and Thomas Stallmach and H. Zentgraf and Peter N{\"u}rnberg and Norbert Gretz and Cecilia Lo and Soeren S. Lienkamp and Tobias Sch{\"a}fer and Gerd Walz and Thomas Benzing and Klaus Zerres and Heymut Omran},
  journal={American journal of human genetics},
  year={2008},
  volume={82 4},
  pages={959-70}
}
Many genetic diseases have been linked to the dysfunction of primary cilia, which occur nearly ubiquitously in the body and act as solitary cellular mechanosensory organelles. The list of clinical manifestations and affected tissues in cilia-related disorders (ciliopathies) such as nephronophthisis is broad and has been attributed to the wide expression pattern of ciliary proteins. However, little is known about the molecular mechanisms leading to this dramatic diversity of phenotypes. We… CONTINUE READING