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Article

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

Nature genetics - 1 Feb 2006

Kyttälä Mira, Tallila Jonna, Salonen Riitta, Kopra Outi, Kohlschmidt Nicolai, Paavola-Sakki Paulina, Peltonen Leena, Kestilä Marjo

Abstract excerpt

Meckel syndrome (MKS) is a severe fetal developmental disorder reported in most populations. The clinical hallmarks are occipital meningoencephalocele, cystic kidney dysplasia, fibrotic changes of the liver and polydactyly. Here we report the identification of a gene, MKS1, mutated in MKS families linked to 17q. Mks1 expression in mouse embryos, as determined by in situ hybridization, agrees well with the tissue...

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Source

Identifiers

PMID: 16415886
DOI: 10.1038/ng1714

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

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.PMID 16415886Read ↗

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.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 ↗

Identification of a novel MKS locus defined by TMEM107 mutation.Semantic proximity Read ↗

Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.Semantic proximity Read ↗

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.Semantic proximity Read ↗

Disruption of a ciliary B9 protein complex causes 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 ↗

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

A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.Semantic proximity Read ↗

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

Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome.Semantic proximity Read ↗

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.Semantic proximity Read ↗

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