ArticleAmerican journal of human genetics2009
Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.
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 136 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
136 citing papers in PubMed, 1 synthesis or guideline pooled it, 238 citations in OpenAlex.
- Electronegative electroretinography in inherited retinal disease: a systematic review of genotype-phenotype correlations.BMC ophthalmology · 2026Pooled it
- Revisiting retinal and macular degeneration in the genomics era.Nature reviews. Genetics · 2026Review
- Non-canonical pore architecture underlies constitutive gating of human retinal TRPM1.Nature communications · 2026Article
- Identification and functional validation of a novel disease-causing variant in the noncoding region of NYX.Acta ophthalmologica · 2026Article
- A novel NYX gene mutation identified in a Chinese Northeast Han family with high myopia and night blindness.BMC ophthalmology · 2026Article
- Article
- Evolution in metazoans of the TRPM channel family involves multiple gains and losses of genes and domains.Molecular biology and evolution · 2026Article
- Mutation Screening ofGenes · 2026Article
- Cryo-EM structure of TRPM1 reveals a non-canonical architecture with an inverted transmembrane domain.Nature communications · 2026Article
- Structure and Function of Ocular Proteoglycans: Essential Proteins for Vision.International journal of molecular sciences · 2026Review
- Fast ERG 15 Hz flicker protocol for assessing functional changes in the rod system.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Expanding the Genotypic Landscape of Congenital Stationary Night Blindness in an Ethnically Diverse Canadian Population.Human mutation · 2026Article
- Physiological functions and pharmacological targeting of transient receptor potential channels.Pharmacological reviews · 2025Review
- A genome-wide investigation of insidious uveitis in Appaloosa horses.BMC genomics · 2025Article
- Divergent mechanisms of neural adaptation and instability in the mammalian retina.Current biology : CB · 2025Article
- Review of Four Refined Clinical Entities in Hereditary Retinal Disorders from Japan.International journal of molecular sciences · 2025Review
- Gene therapy shines light on congenital stationary night blindness for future cures.Journal of translational medicine · 2025Review
- TRPV4 Channel in Neurological Disease: from Molecular Mechanisms to Therapeutic Potential.Molecular neurobiology · 2025Review
- Testosterone promotes photoreceptor degeneration in the sodium iodate model.Experimental eye research · 2025Article
- Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study.The British journal of ophthalmology · 2025Article
76 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
11 authors at 5 institutions in 3 countries.
Funding
Abstract
Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous group of retinal disorders characterized by nonprogressive impaired night vision and variable decreased visual acuity. We report here that six out of eight female probands with autosomal-recessive complete CSNB (cCSNB) had mutations in TRPM1, a retinal transient receptor potential (TRP) cation channel gene. These data suggest that TRMP1 mutations are a major cause of autosomal-recessive CSNB in individuals of European ancestry. We localized TRPM1 in human retina to the ON bipolar cell dendrites in the outer plexifom layer. Our results suggest that in humans, TRPM1 is the channel gated by the mGluR6 (GRM6) signaling cascade, which results in the light-evoked response of ON bipolar cells. Finally, we showed that detailed electroretinography is an effective way to discriminate among patients with mutations in either TRPM1 or GRM6, another autosomal-recessive cCSNB disease gene. These results add to the growing importance of the diverse group of TRP channels in human disease and also provide new insights into retinal circuitry.
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