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Article

Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis.

Cell cycle (Georgetown, Tex.) - 1 Jan 2015

Gholkar Ankur A, Senese Silvia, Lo Yu-Chen, Capri Joseph, Deardorff William J, Dharmarajan Harish, Contreras Ely, Hodara Emmanuelle, Whitelegge Julian P, Jackson Peter K, Torres Jorge Z

Abstract excerpt

Short-rib polydactyly syndromes (SRPS) arise from mutations in genes involved in retrograde intraflagellar transport (IFT) and basal body homeostasis, which are critical for cilia assembly and function. Recently, mutations in WDR34 or WDR60 (candidate dynein intermediate chains) were identified in SRPS. We have identified and characterized Tctex1d2, which associates with Wdr34, Wdr60 and other dynein complex 1...

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

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Identifiers

PMID: 25830415
DOI: 10.4161/15384101.2014.985066
PMCID: PMC4614626

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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

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis.PMID 25830415Read ↗

Disease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2.Semantic proximity Read ↗

Role for the IFT-A Complex in Selective Transport to the Primary Cilium.Semantic proximity Read ↗

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

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.Semantic proximity Read ↗

Disease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2Semantic proximity Read ↗

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

Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies.Semantic proximity Read ↗

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.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 ↗

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

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

Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.Semantic proximity Read ↗

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