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

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

1 Jun 2011

Abstract excerpt

Joubert syndrome (JBTS) is characterized by a specific brain malformation with various additional pathologies. It results from mutations in any one of at least 10 different genes, including NPHP1, which encodes nephrocystin-1. JBTS has been linked to dysfunction of primary cilia, since the gene products known to be associated with the disorder localize to this evolutionarily ancient organelle. Here we report the...

Read the complete abstract on PubMed

Topics

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

Share to Fetal and Pediatric Neurological Disorders
Share to Genetic and Kidney Cyst Diseases
Share to Hedgehog Signaling Pathway Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 21633164
DOI: 10.1172/jci43639

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamicsPMID 21633164Read ↗

KIAA0586 is Mutated in Joubert Syndrome.Semantic proximity Read ↗

Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.Semantic proximity Read ↗

KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.Semantic proximity Read ↗

Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.Semantic proximity Read ↗

A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndromeSemantic proximity Read ↗

Traffic Jams in the Brain: How Kinesin Dysfunction Shapes Neurodevelopmental DisordersSemantic proximity Read ↗

Hydrocephalus caused by <i>Katnip</i> deletion is linked to increased ciliogenesis and reduced proliferation of neuroprogenitor cellsSemantic proximity Read ↗

TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).Semantic proximity Read ↗

A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome.Semantic proximity Read ↗

Mice with a conditional deletion of Talpid3 (KIAA0586) – a model for Joubert syndromeSemantic proximity Read ↗

Clinical and molecular features of Joubert syndrome and related disorders.Semantic proximity Read ↗

Novel Pathogenic Biallelic Variants in KIAA0586 Expand the Variant Spectrum of Ciliopathies.Semantic proximity Read ↗

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