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

doi:10.1016/j.ajhg.2008.02.017

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Article

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

American journal of human genetics - 1 Apr 2008

Bergmann Carsten, Fliegauf Manfred, Brüchle Nadina Ortiz, Frank Valeska, Olbrich Heike, Kirschner Jan, Schermer Bernhard, Schmedding Ingolf, Kispert Andreas, Kränzlin Bettina, Nürnberg Gudrun, Becker Christian, Grimm Tiemo, Girschick Gundula, Lynch Sally A, Kelehan Peter, Senderek Jan, Neuhaus Thomas J, Stallmach Thomas, Zentgraf Hanswalter, Nürnberg Peter, Gretz Norbert, Lo Cecilia, Lienkamp Soeren, Schäfer Tobias, Walz Gerd, Benzing Thomas, Zerres Klaus, Omran Heymut

Abstract excerpt

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...

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Identifiers

PMID: 18371931
DOI: 10.1016/j.ajhg.2008.02.017
PMCID: PMC2427297

Genes

NPHP3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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