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 the Motile Cilia Gene DNAAF1 Are Associated with Neural Tube Defects in Humans.

G3 (Bethesda, Md.) - 13 Oct 2016

Miao Chunyue, Jiang Qian, Li Huili, Zhang Qin, Bai Baoling, Bao Yihua, Zhang Ting

Abstract excerpt

Neural tube defects (NTDs) are severe malformations of the central nervous system caused by complex genetic and environmental factors. Among genes involved in NTD, cilia-related genes have been well defined and found to be essential for the completion of neural tube closure (NTC). We have carried out next-generation sequencing on target genes in 373 NTDs and 222 healthy controls, and discovered eight...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Cell Line
Share to Cilia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Gene Expression

Share to Genetic Association Studies

Share to Neural Tube Defects

Share to Neurogenesis

Source

Open in PubMed Open full text

Identifiers

PMID: 27543293
DOI: 10.1534/g3.116.033696
PMCID: PMC5068950

Genes

DNAAF1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the Motile Cilia Gene DNAAF1 Are Associated with Neural Tube Defects in Humans.PMID 27543293Read ↗

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

Ciliopathies: Coloring outside of the lines.Semantic proximity Read ↗

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.Semantic proximity Read ↗

[Genetic complexity of ciliopathies and novel genes identification].Semantic proximity Read ↗

WDR31 is a novel ciliopathy protein displaying functional redundancy with GTPase-activating proteins ELMOD and RP2 in recruiting BBSome to ciliumSemantic proximity Read ↗

Novel dynein axonemal assembly factor 1 mutations identified using whole‑exome sequencing in patients with primary ciliary dyskinesia.Semantic proximity Read ↗

Mutations in Dnaaf1 and Lrrc48 Cause Hydrocephalus, Laterality Defects, and Sinusitis in Mice.Semantic proximity Read ↗

CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow.Semantic proximity Read ↗

Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility.Semantic proximity Read ↗

Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration.Semantic proximity Read ↗

Systematic discovery of novel ciliary genes through functional genomics in the zebrafish.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 ↗

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