Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.

doi:10.1093/hmg/ddp272

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Article

Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.

Human molecular genetics - 1 Sept 2009

Tammachote Rachaneekorn, Hommerding Cynthia J, Sinders Rachel M, Miller Caroline A, Czarnecki Peter G, Leightner Amanda C, Salisbury Jeffrey L, Ward Christopher J, Torres Vicente E, Gattone Vincent H, Harris Peter C

Abstract excerpt

Meckel syndrome (MKS) is a lethal disorder characterized by renal cystic dysplasia, encephalocele, polydactyly and biliary dysgenesis. It is highly genetically heterogeneous with nine different genes implicated in this disorder. MKS is thought to be a ciliopathy because of the range of phenotypes...

Topics

Abnormalities, Multiple
Animals
Centrosome
Cilia
Female
Humans
Membrane Proteins
Mutation
Proteins
Rats
Rats, Wistar

Source

Open in PubMed Open full text

Identifiers

PMID: 19515853
DOI: 10.1093/hmg/ddp272
PMCID: PMC2733821

Genes

MKS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-19515853-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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