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

A novel heterotaxy gene: Expansion of the phenotype of TTC21B-spectrum disease.

American journal of medical genetics. Part A - 1 Apr 2021

Strong Alanna, Li Dong, Mentch Frank, Hakonarson Hakon

Abstract excerpt

TTC21B encodes the protein IFT139, a critical component of the retrograde transport system within the primary cilium. Biallelic, pathogenic TTC21B variants are associated with classic ciliopathy syndromes, including nephronophthisis, Jeune asphyxiating thoracic dystrophy, and Joubert Syndrome, with ciliopathy-spectrum traits such as biliary dysgenesis, primary ciliary dyskinesia, and situs inversus, and also with...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Cerebellum
Share to Child

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

Share to Genetic Predisposition to Disease

Share to Kidney

Share to Kidney Transplantation

Share to Microtubule-Associated Proteins

Share to Retina

Source

Open in PubMed Open full text

Identifiers

PMID: 33547761
DOI: 10.1002/ajmg.a.62093
PMCID: PMC9290470

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

A novel heterotaxy gene: Expansion of the phenotype of TTC21B-spectrum disease.PMID 33547761Read ↗

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.Semantic proximity Read ↗

Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes.Semantic proximity Read ↗

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.Semantic proximity Read ↗

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.Semantic proximity Read ↗

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.Semantic proximity Read ↗

Mutations in TTC21B cause different phenotypes in two childhood cases in China.Semantic proximity Read ↗

A Compound Heterozygous Mutation in the Ciliary Gene TTC21B Causes Nephronophthisis Type 12Semantic proximity Read ↗

Research Progress on the Pathogenesis and Diagnostic and Therapeutic Potential of Ciliopathies Regulated by IFT172.Semantic proximity Read ↗

Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis.Semantic proximity Read ↗

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.Semantic proximity Read ↗

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.Semantic proximity Read ↗

Contribution of the TTC21B gene to glomerular and cystic kidney diseases.Semantic proximity Read ↗

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