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Article

Molecular basis of ciliary defects caused by compound heterozygous IFT144/WDR19 mutations found in cranioectodermal dysplasia.

Human molecular genetics - 26 Apr 2021

Ishida Yamato, Kobayashi Takuya, Chiba Shuhei, Katoh Yohei, Nakayama Kazuhisa

Abstract excerpt

Primary cilia contain specific proteins to achieve their functions as cellular antennae. Ciliary protein trafficking is mediated by the intraflagellar transport (IFT) machinery containing the IFT-A and IFT-B complexes. Mutations in genes encoding the IFT-A subunits (IFT43, IFT121/WDR35, IFT122, IFT139/TTC21B, IFT140 and IFT144/WDR19) often result in skeletal ciliopathies, including cranioectodermal dysplasia...

Topics

Bone and Bones
Cilia
Ciliopathies
Codon, Nonsense
Craniosynostoses
Cytoskeletal Proteins
Ectodermal Dysplasia
HEK293 Cells
Humans
Intracellular Signaling Peptides and Proteins
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation, Missense

Source

Identifiers

PMID: 33517396
DOI: 10.1093/hmg/ddab034

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-33517396-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Molecular basis of ciliary defects caused by compound heterozygous IFT144/WDR19 mutations found in cranioectodermal dysplasia.PMID 33517396Read ↗

Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but not ciliogenesis.Semantic proximity Read ↗

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate DiagnosisSemantic proximity Read ↗

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

IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration.Semantic proximity Read ↗

Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies.Semantic proximity Read ↗

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.Semantic proximity Read ↗

Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies.Semantic proximity Read ↗

Loss of ift122, a Retrograde Intraflagellar Transport (IFT) Complex Component, Leads to Slow, Progressive Photoreceptor Degeneration Due to Inefficient Opsin Transport.Semantic proximity Read ↗

Intraflagellar transport 88 (IFT88) is crucial for craniofacial development in mice and is a candidate gene for human cleft lip and palateSemantic proximity Read ↗

Pharmacological rescue of cilia trafficking defects in IFT140 retinal organoid and RPE models of retinal dystrophySemantic proximity Read ↗

Base editing derived models of human <i>WDR34</i> and <i>WDR60</i> disease alleles replicate retrograde IFT and hedgehog signaling defects and suggest disturbed Golgi protein transportSemantic proximity Read ↗

IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis.Semantic proximity Read ↗

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