Trial reportJournal of medical genetics2007
Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation.
Trial report in Journal of medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
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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
16 citing papers in PubMed, 29 citations in OpenAlex.
- Biogenesis and function of circular RNAs and their implications in the Down syndrome brain.Frontiers in genetics · 2025Review
- Enhanced Learning and Memory in Patients withGenes · 2024Article
- Genomic insights into adaptation and inbreeding among Sub-Saharan African cattle from pastoral and agropastoral systems.Frontiers in genetics · 2024Article
- Ribbon Synapses and Retinal Disease: Review.International journal of molecular sciences · 2023Review
- Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1.Investigative ophthalmology & visual science · 2022Article
- ROP18-Mediated Transcriptional Reprogramming of HEK293T Cell Reveals New Roles of ROP18 in the Interplay BetweenFrontiers in cellular and infection microbiology · 2020Article
- Article
- Whole genome sequencing of canids reveals genomic regions under selection and variants influencing morphology.Nature communications · 2019Article
- Impact of energy restriction during late gestation on the muscle and blood transcriptome of beef calves after preconditioning.BMC genomics · 2018Article
- Transcription start site profiling of 15 anatomical regions of the Macaca mulatta central nervous system.Scientific data · 2017Article
- Retinal dystrophies, genomic applications in diagnosis and prospects for therapy.Translational pediatrics · 2015Review
- X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.American journal of human genetics · 2012Article
- Cultural evolutionary tipping points in the storage and transmission of information.Frontiers in psychology · 2012Article
- Loss-of-function mutations in RAB18 cause Warburg micro syndrome.American journal of human genetics · 2011Article
- Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy.European journal of human genetics : EJHG · 2011Article
- Mutation associated with an autosomal dominant cone-rod dystrophy CORD7 modifies RIM1-mediated modulation of voltage-dependent Ca2+ channels.Channels (Austin, Tex.)Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors at 5 institutions in 2 countries.
Funding
Abstract
backgroundThe genetic basis of variation in human cognitive abilities is poorly understood. RIMS1 encodes a synapse active-zone protein with important roles in the maintenance of normal synaptic function: mice lacking this protein have greatly reduced learning ability and memory function.
objectiveAn established paradigm examining the structural and functional effects of mutations in genes expressed in the eye and the brain was used to study a kindred with an inherited retinal dystrophy due to RIMS1 mutation. MATERIALS AND
methodsNeuropsychological tests and high-resolution MRI brain scanning were undertaken in the kindred. In a population cohort, neuropsychological scores were associated with common variation in RIMS1. Additionally, RIMS1 was sequenced in top-scoring individuals. Evolution of RIMS1 was assessed, and its expression in developing human brain was studied.
resultsAffected individuals showed significantly enhanced cognitive abilities across a range of domains. Analysis suggests that factors other than RIMS1 mutation were unlikely to explain enhanced cognition. No association with common variation and verbal IQ was found in the population cohort, and no other mutations in RIMS1 were detected in the highest scoring individuals from this cohort. RIMS1 protein is expressed in developing human brain, but RIMS1 does not seem to have been subjected to accelerated evolution in man.
conclusionsA possible role for RIMS1 in the enhancement of cognitive function at least in this kindred is suggested. Although further work is clearly required to explore these findings before a role for RIMS1 in human cognition can be formally accepted, the findings suggest that genetic mutation may enhance human cognition in some cases.
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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.