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

Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX.

Human mutation - 1 Jan 2014

Adly Nouran, Alhashem Amal, Ammari Amer, Alkuraya Fowzan S

Abstract excerpt

Clinical syndromes caused by defects in the primary cilium are heterogeneous but there are recurrent phenotypic manifestations that define them as a collective group known as ciliopathies. Dozens of genes have been linked to various ciliopathies but large patient cohorts have clearly revealed the existence of additional genetic heterogeneity, which is yet to be fully appreciated. In our search for novel...

Read the complete abstract on PubMed

Topics

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

Share to Adaptor Proteins, Signal Transducing
Share to Cilia
Share to Exome

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

Share to GTPase-Activating Proteins

Share to INDEL Mutation

Share to Orofaciodigital Syndromes

Share to Skin Diseases, Genetic

Share to Sodium Channels

Source

Identifiers

PMID: 24285566
DOI: 10.1002/humu.22477

Genes

SCLT1

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

Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX.PMID 24285566Read ↗

Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy.Semantic proximity Read ↗

The morbid genome of ciliopathies: an update.Semantic proximity Read ↗

Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome.Semantic proximity Read ↗

Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptomsSemantic proximity Read ↗

Syndromic ciliopathy: a taiwanese single-center study.Semantic proximity Read ↗

Characterizing the morbid genome of ciliopathies.Semantic proximity Read ↗

The ciliopathies: an emerging class of human genetic disorders.Semantic proximity Read ↗

Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndrome diagnosisSemantic proximity Read ↗

A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV.Semantic proximity Read ↗

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

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.Semantic proximity Read ↗

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

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