Normal ciliogenesis requires synergy between the cystic kidney disease genes MKS-3 and NPHP-4.

doi:10.1681/ASN.2009060597

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Article

Normal ciliogenesis requires synergy between the cystic kidney disease genes MKS-3 and NPHP-4.

Journal of the American Society of Nephrology : JASN - 1 May 2010

Williams Corey L, Masyukova Svetlana V, Yoder Bradley K

Abstract excerpt

Cilia dysfunction contributes to renal cyst formation in multiple human syndromes including nephronophthisis (NPHP), Meckel-Gruber syndrome (MKS), Joubert syndrome (JBTS), and Bardet-Beidl syndrome (BBS). Although genetically heterogeneous, these diseases share several loci that affect cilia and/or basal body proteins, but the functions and interactions of these gene products are incompletely understood. Here, we...

Topics

Alleles
Animals
Caenorhabditis elegans
Caenorhabditis elegans Proteins
Chemotaxis
Cilia
Gene Expression Regulation
Kidney Diseases, Cystic
Membrane Proteins
Sensory Receptor Cells
Transcription Factors

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Identifiers

PMID: 20150540
DOI: 10.1681/ASN.2009060597
PMCID: PMC2865747

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