ArticleThe Journal of clinical investigation2017
Mutant α2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome.
Article in The Journal of clinical investigation, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 35 citations in OpenAlex.
- Strabismus in Genetic Syndromes: A Review.Clinical & experimental ophthalmology · 2025Review
- A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.Nature communications · 2024Article
- Evolution and development of extraocular motor neurons, nerves and muscles in vertebrates.Annals of anatomy = Anatomischer Anzeiger : official organ of the Anatomische Gesellschaft · 2024Review
- Two novel CHN1 variants identified in Duane retraction syndrome pedigrees disrupt development of ocular motor nerves in zebrafish.Journal of human genetics · 2024Article
- Case report: Identification of a novel variant p.Gly215Arg in theFrontiers in genetics · 2024Article
- A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.medRxiv : the preprint server for health sciences · 2023Article
- Research hotspots and trends of oculomotor nerve palsy from 2001 to 2021 based on web of science: A bibliometric analysis.Frontiers in neurology · 2023Article
- Clinical and genetic characteristics of Chinese patients with congenital cranial dysinnervation disorders.Orphanet journal of rare diseases · 2022Article
- Impaired Extraocular Muscle Innervation Is Present Before Eye Opening in a Mouse Model of Infantile Nystagmus Syndrome.Investigative ophthalmology & visual science · 2022Article
- Axonal Growth Abnormalities Underlying Ocular Cranial Nerve Disorders.Annual review of vision science · 2021Review
- The Rac-GAP alpha2-Chimaerin Signals via CRMP2 and Stathmins in the Development of the Ocular Motor System.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2021Article
- CHN1 promotes epithelial-mesenchymal transition via the Akt/GSK-3β/Snail pathway in cervical carcinoma.Journal of translational medicine · 2021Article
- Lysosomal Function and Axon Guidance: Is There a Meaningful Liaison?Biomolecules · 2021Review
- Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans.Human molecular genetics · 2019Article
- Loss of CXCR4/CXCL12 Signaling Causes Oculomotor Nerve Misrouting and Development of Motor Trigeminal to Oculomotor Synkinesis.Investigative ophthalmology & visual science · 2018Article
- Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect.Investigative ophthalmology & visual science · 2018Article
- Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders.Acta neuropathologica communications · 2017Article
- Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance.Human molecular genetics · 2017Review
- Ocular Motor Nerve Development in the Presence and Absence of Extraocular Muscle.Investigative ophthalmology & visual science · 2017Article
- The clinical characteristics of Duane retraction syndrome in Al-Medina region.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
Duane retraction syndrome (DRS) is the most common form of congenital paralytic strabismus in humans and can result from α2-chimaerin (CHN1) missense mutations. We report a knockin α2-chimaerin mouse (Chn1KI/KI) that models DRS. Whole embryo imaging of Chn1KI/KI mice revealed stalled abducens nerve growth and selective trochlear and first cervical spinal nerve guidance abnormalities. Stalled abducens nerve bundles did not reach the orbit, resulting in secondary aberrant misinnervation of the lateral rectus muscle by the oculomotor nerve. By contrast, Chn1KO/KO mice did not have DRS, and embryos displayed abducens nerve wandering distinct from the Chn1KI/KI phenotype. Murine embryos lacking EPH receptor A4 (Epha4KO/KO), which is upstream of α2-chimaerin in corticospinal neurons, exhibited similar abducens wandering that paralleled previously reported gait alterations in Chn1KO/KO and Epha4KO/KO adult mice. Findings from Chn1KI/KI Epha4KO/KO mice demonstrated that mutant α2-chimaerin and EphA4 have different genetic interactions in distinct motor neuron pools: abducens neurons use bidirectional ephrin signaling via mutant α2-chimaerin to direct growth, while cervical spinal neurons use only ephrin forward signaling, and trochlear neurons do not use ephrin signaling. These findings reveal a role for ephrin bidirectional signaling upstream of mutant α2-chimaerin in DRS, which may contribute to the selective vulnerability of abducens motor neurons in this disorder.
Indexed as
Identifiers
What OpenQuestion holds
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.