ArticleAmerican journal of human genetics2016
Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects.
Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03059420 (Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders), which is not on this map. Cited by 47 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.
Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies
Who cites it
47 citing papers in PubMed, 91 citations in OpenAlex.
- Transcriptional profiling of extraocular motor neurons revealsbioRxiv : the preprint server for biology · 2026Article
- Broadening the Phenotypic Spectrum ofGenes · 2026Article
- Combinatorial transcriptional regulation establishes subtype-appropriate synaptic properties in auditory neurons.Cell reports · 2025Article
- Strabismus in Genetic Syndromes: A Review.Clinical & experimental ophthalmology · 2025Review
- Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays.Investigative ophthalmology & visual science · 2025Article
- Etiology and clinical features of Han Chinese patients with Duane retraction syndrome.Frontiers in genetics · 2025Article
- Motor neurons are dispensable for the assembly of a sensorimotor circuit for gaze stabilization.eLife · 2024Article
- A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.Nature communications · 2024Article
- Single-cell RNA sequencing reveals the differentiation and regulation of endplate cells in human intervertebral disc degeneration.Scientific reports · 2024Article
- Human-like adrenal features in Chinese tree shrews revealed by multi-omics analysis of adrenal cell populations and steroid synthesis.Zoological research · 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
- Motor neurons are dispensable for the assembly of a sensorimotor circuit for gaze stabilization.bioRxiv : the preprint server for biology · 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
- Exploring Large MAF Transcription Factors: Functions, Pathology, and Mouse Models with Point Mutations.Genes · 2023Review
- Identification of the Genetic Association Between Type-2-Diabetes and Pancreatic Cancer.Biochemical genetics · 2023Article
- Denosumab Treatment Does Not Halt Progression of Bone Lesions in Multicentric Carpotarsal Osteolysis Syndrome.JBMR plus · 2023Article
- Multicentric Carpotarsal Osteolysis: a Contemporary Perspective on the Unique Skeletal Phenotype.Current osteoporosis reports · 2023Review
- Podocyte-specific Transcription Factors: Could MafB Become a Therapeutic Target for Kidney Disease?Internal medicine (Tokyo, Japan) · 2023Review
- Genetics of strabismus.Frontiers in ophthalmology · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 5 institutions in 2 countries.
Funding
Abstract
Duane retraction syndrome (DRS) is a congenital eye-movement disorder defined by limited outward gaze and retraction of the eye on attempted inward gaze. Here, we report on three heterozygous loss-of-function MAFB mutations causing DRS and a dominant-negative MAFB mutation causing DRS and deafness. Using genotype-phenotype correlations in humans and Mafb-knockout mice, we propose a threshold model for variable loss of MAFB function. Postmortem studies of DRS have reported abducens nerve hypoplasia and aberrant innervation of the lateral rectus muscle by the oculomotor nerve. Our studies in mice now confirm this human DRS pathology. Moreover, we demonstrate that selectively disrupting abducens nerve development is sufficient to cause secondary innervation of the lateral rectus muscle by aberrant oculomotor nerve branches, which form at developmental decision regions close to target extraocular muscles. Thus, we present evidence that the primary cause of DRS is failure of the abducens nerve to fully innervate the lateral rectus muscle in early development.
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.