TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.

doi:10.1038/ncomms8074

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Article

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.

Nature communications - 5 Jun 2015

Schmidts Miriam, Hou Yuqing, Cortés Claudio R, Mans Dorus A, Huber Celine, Boldt Karsten, Patel Mitali, van Reeuwijk Jeroen, Plaza Jean-Marc, van Beersum Sylvia E C, Yap Zhi Min, Letteboer Stef J F, Taylor S Paige, Herridge Warren, Johnson Colin A, Scambler Peter J, Ueffing Marius, Kayserili Hulya, Krakow Deborah, King Stephen M, Beales Philip L, Al-Gazali Lihadh, Wicking Carol, Cormier-Daire Valerie, Roepman Ronald, Mitchison Hannah M, Witman George B

Abstract excerpt

The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms controlling ciliogenesis and cell signalling that are essential to embryonic development and survival. Here we identify TCTEX1D2 mutations causing Jeune asphyxiating thoracic dystrophy with partially...

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PMID: 26044572
DOI: 10.1038/ncomms8074
PMCID: PMC4468853

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-26044572-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.PMID 26044572Read ↗

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.Semantic proximity Read ↗

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.Semantic proximity Read ↗

Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis.Semantic proximity Read ↗

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.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 ↗

DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.Semantic proximity Read ↗

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

Distinct effects of hypomorphic IFT and dynein-2 skeletal ciliopathy disease alleles on chondrogenic differentiation, ECM composition and wnt signalling in ATDC5 derived cartilage-like organoidsSemantic proximity Read ↗

Base editing-derived models of human WDR34 and WDR60 disease alleles replicate retrograde intraflagellar transport (IFT) and hedgehog signaling defects.Semantic 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 ↗

The emerging functions of intraflagellar transport 52 in ciliary transport and ciliopathies.Semantic proximity Read ↗

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.Semantic proximity Read ↗

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