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

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.

Nature communications - 16 Jun 2015

Taylor S Paige, Dantas Tiago J, Duran Ivan, Wu Sulin, Lachman Ralph S, Nelson Stanley F, Cohn Daniel H, Vallee Richard B, Krakow Deborah

Abstract excerpt

The short rib polydactyly syndromes (SRPSs) are a heterogeneous group of autosomal recessive, perinatal lethal skeletal disorders characterized primarily by short, horizontal ribs, short limbs and polydactyly. Mutations in several genes affecting intraflagellar transport (IFT) cause SRPS but they do not account for all cases. Here we identify an additional SRPS gene and further unravel the functional basis for...

Topics

Biological Transport
Cilia
Cytoplasmic Dyneins
Cytoskeleton
Female
Fibroblasts
Flagella
Hedgehog Proteins
Humans
Male
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Short Rib-Polydactyly Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 26077881
DOI: 10.1038/ncomms8092
PMCID: PMC4470332

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-26077881-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.PMID 26077881Read ↗

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

Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.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 ↗

Identification of mutations in DYNC2LI1, a member of the mammalian cytoplasmic dynein 2 complex, expands the clinical spectrum of Jeune/ATD ciliopathiesSemantic proximity Read ↗

Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.Semantic proximity Read ↗

Ciliary disorder of the skeletonSemantic proximity Read ↗

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.Semantic proximity Read ↗

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

Ciliary Dyneins and Dynein Related CiliopathiesSemantic proximity Read ↗

Ciliopathies: Coloring outside of the lines.Semantic proximity Read ↗

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

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