Trial reportThe Journal of clinical investigation2012
A misplaced lncRNA causes brachydactyly in humans.
Trial report in The Journal of clinical investigation, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 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
74 citing papers in PubMed, 119 citations in OpenAlex.
- Capture and Purification of Endogenous Long Noncoding Ribonucleic Protein Complexes for Protein Identification Using Grad-MS.Methods in molecular biology (Clifton, N.J.) · 2027Article
- Scanning transcriptomes for nonlinear, domain-level similarities using hmSEEKR.bioRxiv : the preprint server for biology · 2026Article
- Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2026Article
- LncRNA CISTR-ACT regulates cell size in human and mouse by guiding FOSL2.Nature communications · 2025Article
- The emerging roles of long non-coding RNAs in the nervous system.Nature reviews. Neuroscience · 2025Review
- Role of long non-coding RNAs in cartilage development and osteoarthritis pathogenesis.European journal of medical research · 2025Review
- Inter-chromosomal contacts demarcate genome topology along a spatial gradient.Nature communications · 2024Article
- Neurodevelopmental Disorder Caused by Deletion ofThe New England journal of medicine · 2024Article
- The temporal dynamics of lncRNA Firre-mediated epigenetic and transcriptional regulation.Nature communications · 2024Article
- Functional identification of cis-regulatory long noncoding RNAs at controlled false discovery rates.Nucleic acids research · 2024Article
- ADAM19 cleaves the PTH receptor and associates with brachydactyly type E.Life science alliance · 2024Article
- A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature.Molecular genetics & genomic medicine · 2024Article
- A novel mutation inBone reports · 2023Article
- A lncRNA from an inflammatory bowel disease risk locus maintains intestinal host-commensal homeostasis.Cell research · 2023Article
- Potential Blood DNA Methylation Biomarker Genes for Diagnosis of Liver Fibrosis in Patients With Biopsy-Proven Non-alcoholic Fatty Liver Disease.Frontiers in medicine · 2022Article
- Identification of novel locus associated with coronary artery aneurysms and validation of loci for susceptibility to Kawasaki disease.European journal of human genetics : EJHG · 2021Article
- History of the methodology of disease gene identification.American journal of medical genetics. Part A · 2021Article
- LncRNA: A Potential Research Direction in Intestinal Barrier Function.Digestive diseases and sciences · 2021Review
- Article
- lncRNA OGFRP1 promotes tumor progression by activating the AKT/mTOR pathway in human gastric cancer.Aging · 2021Article
14 more citing papers are in PubMed but not listed here.
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
Abstract
Translocations are chromosomal rearrangements that are frequently associated with a variety of disease states and developmental disorders. We identified 2 families with brachydactyly type E (BDE) resulting from different translocations affecting chromosome 12p. Both translocations caused downregulation of the parathyroid hormone-like hormone (PTHLH) gene by disrupting the cis-regulatory landscape. Using chromosome conformation capturing, we identified a regulator on chromosome 12q that interacts in cis with PTHLH over a 24.4-megabase distance and in trans with the sex-determining region Y-box 9 (SOX9) gene on chromosome 17q. The element also harbored a long noncoding RNA (lncRNA). Silencing of the lncRNA, PTHLH, or SOX9 revealed a feedback mechanism involving an expression-dependent network in humans. In the BDE patients, the human lncRNA was upregulated by the disrupted chromosomal association. Moreover, the lncRNA occupancy at the PTHLH locus was reduced. Our results document what we believe to be a novel in cis- and in trans-acting DNA and lncRNA regulatory feedback element that is reciprocally regulated by coding genes. Furthermore, our findings provide a systematic and combinatorial view of how enhancers encoding lncRNAs may affect gene expression in normal development.
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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.