Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Journal of cell science - 1 Mar 2009

Bialas Nathan J, Inglis Peter N, Li Chunmei, Robinson Jon F, Parker Jeremy D K, Healey Michael P, Davis Erica E, Inglis Chrystal D, Toivonen Tiina, Cottell David C, Blacque Oliver E, Quarmby Lynne M, Katsanis Nicholas, Leroux Michel R

Abstract excerpt

Meckel syndrome (MKS) is a ciliopathy characterized by encephalocele, cystic renal disease, liver fibrosis and polydactyly. An identifying feature of MKS1, one of six MKS-associated proteins, is the presence of a B9 domain of unknown function. Using phylogenetic analyses, we show that this domain occurs exclusively within a family of three proteins distributed widely in ciliated organisms. Consistent with a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Sequence
Share to Molecular Sequence Data

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Phenotype

Share to Phylogeny

Share to Proteins

Share to Recombinant Fusion Proteins

Share to Sequence Alignment

Share to Signal Transduction

Source

Open in PubMed Open full text

Identifiers

PMID: 19208769
DOI: 10.1242/jcs.028621
PMCID: PMC2720918

Genes

MKS1

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.PMID 19208769Read ↗

Disruption of a ciliary B9 protein complex causes Meckel syndrome.Semantic proximity Read ↗

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

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

Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans.Semantic proximity Read ↗

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

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

Formation of the transition zone by Mks5/Rpgrip1L establishes a ciliary zone of exclusion (CIZE) that compartmentalises ciliary signalling proteins and controls PIP2 ciliary abundance.Semantic proximity Read ↗

Mks6 mutations reveal tissue- and cell type-specific roles for the cilia transition zone.Semantic proximity Read ↗

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

Extracellular matrix regulates morphogenesis and function of ciliated sensory organs in <i>Caenorhabditis elegans</i>Semantic proximity Read ↗

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.