ArticleAmerican journal of human genetics2009
Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.
Article in American journal of human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 73 papers, 1 of them a synthesis that pooled it.
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Who cites it
73 citing papers in PubMed, 1 synthesis or guideline pooled it, 167 citations in OpenAlex.
- Genome-wide association study and trans-ethnic meta-analysis identify novel susceptibility loci for type 2 diabetes mellitus.BMC medical genomics · 2024Pooled it
- In situ structure of the human ciliary transition zone links linker defects to primary ciliary dyskinesia.Science (New York, N.Y.) · 2026Article
- A Case of Short-Rib Thoracic Dysplasia: Diagnostic Clues in Early Pregnancy and Genetic Analysis.Journal of clinical ultrasound : JCU · 2026Article
- Structure Makes a Difference: IFT Complex in Ciliary Function and Ciliopathy.Cytoskeleton (Hoboken, N.J.) · 2026Review
- A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.Hereditas · 2025Article
- SMYD3 Controls Ciliogenesis by Regulating Distinct Centrosomal Proteins and Intraflagellar Transport Trafficking.International journal of molecular sciences · 2024Article
- Structure and tethering mechanism of dynein-2 intermediate chains in intraflagellar transport.The EMBO journal · 2024Article
- Joubert syndrome causing mutation in C2 domain of CC2D2A affects structural integrity of cilia and cellular signaling molecules.Experimental brain research · 2024Article
- Disease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2.Journal of cell science · 2023Article
- Molecular mechanisms of adaptive evolution in wild animals and plants.Science China. Life sciences · 2023Review
- Genetic variations in theFrontiers in genetics · 2023Article
- The retrograde IFT dynein is required for normal function of diverse mechanosensory cilia inFrontiers in molecular neuroscience · 2023Article
- Characterization of a novel deep-intronic variant inCold Spring Harbor molecular case studies · 2022Article
- Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis.BMC medical genomics · 2022Article
- WDR60-mediated dynein-2 loading into cilia powers retrograde IFT and transition zone crossing.The Journal of cell biology · 2022Article
- Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA.European journal of human genetics : EJHG · 2021Article
- Primary cilia in hard tissue development and diseases.Frontiers of medicine · 2021Review
- High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.Journal of human genetics · 2021Article
- Motor Proteins and Spermatogenesis.Advances in experimental medicine and biology · 2021Review
- Review: Cytoplasmic dynein motors in photoreceptors.Molecular vision · 2021Review
13 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 4 institutions in 1 country.
Funding
Abstract
The short-rib polydactyly (SRP) syndromes are a heterogeneous group of perinatal lethal skeletal disorders with polydactyly and multisystem organ abnormalities. Homozygosity by descent mapping in a consanguineous SRP family identified a genomic region that contained DYNC2H1, a cytoplasmic dynein involved in retrograde transport in the cilium. Affected individuals in the family were homozygous for an exon 12 missense mutation that predicted the amino acid substitution R587C. Compound heterozygosity for one missense and one null mutation was identified in two additional nonconsanguineous SRP families. Cultured chondrocytes from affected individuals showed morphologically abnormal, shortened cilia. In addition, the chondrocytes showed abnormal cytoskeletal microtubule architecture, implicating an altered microtubule network as part of the disease process. These findings establish SRP as a cilia disorder and demonstrate that DYNC2H1 is essential for skeletogenesis and growth.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.