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Article

Disruption of a ciliary B9 protein complex causes Meckel syndrome.

American journal of human genetics - 15 Jul 2011

Dowdle William E, Robinson Jon F, Kneist Andreas, Sirerol-Piquer M Salomé, Frints Suzanna G M, Corbit Kevin C, Zaghloul Norann A, Zaghloul Norran A, van Lijnschoten Gesina, Mulders Leon, Verver Dideke E, Zerres Klaus, Reed Randall R, Attié-Bitach Tania, Johnson Colin A, García-Verdugo José Manuel, Katsanis Nicholas, Bergmann Carsten, Reiter Jeremy F

Abstract excerpt

Nearly every ciliated organism possesses three B9 domain-containing proteins: MKS1, B9D1, and B9D2. Mutations in human MKS1 cause Meckel syndrome (MKS), a severe ciliopathy characterized by occipital encephalocele, liver ductal plate malformations, polydactyly, and kidney cysts. Mouse mutations in either Mks1 or B9d2 compromise ciliogenesis and result in phenotypes similar to those of MKS. Given the importance of...

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Identifiers

PMID: 21763481
DOI: 10.1016/j.ajhg.2011.06.003
PMCID: PMC3135817

Genes

MKS1

Variants

Provenance

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Disruption of a ciliary B9 protein complex causes Meckel syndrome.PMID 21763481Read ↗

B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.Semantic proximity Read ↗

Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.Semantic proximity Read ↗

Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.Semantic proximity Read ↗

Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome.Semantic proximity Read ↗

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.Semantic proximity Read ↗

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.Semantic proximity Read ↗

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

Functional redundancy of the B9 proteins and nephrocystins in Caenorhabditis elegans ciliogenesis.Semantic proximity Read ↗

Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.Semantic proximity Read ↗

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.Semantic proximity Read ↗

A meckelin-filamin A interaction mediates ciliogenesis.Semantic proximity Read ↗

BBS mutations modify phenotypic expression of CEP290-related ciliopathies.Semantic proximity Read ↗

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