ArticleMolecular psychiatry2018
A rare missense variant in RCL1 segregates with depression in extended families.
Article in Molecular psychiatry, 2018. 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, 41 citations in OpenAlex.
- Somatic mutation profiles in aged military nuclear test veterans: A comparative whole-genome sequence study.PloS one · 2026Article
- Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes.Genome medicine · 2025Article
- Human mood disorder risk gene Synaptotagmin-14 contributes to mania-like behaviors in mice.Molecular psychiatry · 2025Article
- A rare variant inProceedings of the National Academy of Sciences of the United States of America · 2025Article
- Human Pluripotent Stem Cell-Derived Astrocyte Functionality Compares Favorably with Primary Rat Astrocytes.eNeuro · 2024Article
- Integration of whole-exome sequencing and structural neuroimaging analysis in major depressive disorder: a joint study.Translational psychiatry · 2024Article
- Interlaminar and varicose-projection astrocytes: toward a new understanding of the primate brain.Frontiers in cellular neuroscience · 2024Review
- Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis.Annals of clinical and translational neurology · 2022Article
- Rcl1 depletion impairs 18S pre-rRNA processing at the A1-site and up-regulates a cohort of ribosome biogenesis genes in zebrafish.Nucleic acids research · 2021Article
- RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes.Molecular psychiatry · 2021Article
- A linkage and exome study of multiplex families with bipolar disorder implicates rare coding variants of ANK3 and additional rare alleles at 10q11-q21.Journal of psychiatry & neuroscience : JPN · 2021Article
- Identifying Prognostic Significance of RCL1 and Four-Gene Signature as Novel Potential Biomarkers in HCC Patients.Journal of oncology · 2021Article
- Targeted sequencing of the BDNF gene in young Chinese Han people with major depressive disorder.Molecular genetics & genomic medicine · 2020Article
- Objectives, design and main findings until 2020 from the Rotterdam Study.European journal of epidemiology · 2020Article
- Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome.Nature neuroscience · 2019Article
- DNA methylation signatures of monozygotic twins clinically discordant for multiple sclerosis.Nature communications · 2019Article
- Genome-wide association analysis uncovers variants for reproductive variation across dog breeds and links to domestication.Evolution, medicine, and public health · 2019Article
- A Genome-Wide Linkage Study for Chronic Obstructive Pulmonary Disease in a Dutch Genetic Isolate Identifies Novel Rare Candidate Variants.Frontiers in genetics · 2018Article
- Whole-Genome Linkage Scan Combined With Exome Sequencing Identifies Novel Candidate Genes for Carotid Intima-Media Thickness.Frontiers in genetics · 2018Article
- Progress in Genetic Studies of Tourette's Syndrome.Brain sciences · 2017Review
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 2 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Depression is the most prevalent psychiatric disorder with a complex and elusive etiology that is moderately heritable. Identification of genes would greatly facilitate the elucidation of the biological mechanisms underlying depression, however, its complex etiology has proved to be a major bottleneck in the identification of its genetic risk factors, especially in genome-wide association-like studies. In this study, we exploit the properties of a genetic isolate and its family-based structure to explore whether relatively rare exonic variants influence the burden of depressive symptoms in families. Using a multistep approach involving linkage and haplotype analyses followed by exome sequencing in the Erasmus Rucphen Family (ERF) study, we identified a rare (minor allele frequency (MAF)=1%) missense c.1114C>T mutation (rs115482041) in the RCL1 gene segregating with depression across multiple generations. Rs115482041 showed significant association with depressive symptoms (N=2393, β
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.