ArticleAmerican journal of human genetics1996
Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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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.
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Who cites it
36 citing papers in PubMed, 101 citations in OpenAlex.
- Long non-coding RNAs: definitions, functions, challenges and recommendations.Nature reviews. Molecular cell biology · 2023Review
- Clinical Features of Aberrations Chromosome 22q: A Pilot Study.Global medical genetics · 2022Article
- DGCR5 is activated by PAX5 and promotes pancreatic cancer via targeting miR-3163/TOP2A and activating Wnt/β-catenin pathway.International journal of biological sciences · 2021Article
- Progress and assessment of lncRNA DGCR5 in malignant phenotype and immune infiltration of human cancers.American journal of cancer research · 2021Review
- Interpreting the impact of noncoding structural variation in neurodevelopmental disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Review
- DGCR5 Promotes Gallbladder Cancer by Sponging MiR-3619-5p via MEK/ERK1/2 and JNK/p38 MAPK Pathways.Journal of Cancer · 2020Article
- Analyzing the interactions of mRNAs, miRNAs, lncRNAs and circRNAs to predict competing endogenous RNA networks in glioblastoma.Journal of neuro-oncology · 2018Article
- Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.Human molecular genetics · 2018Article
- The Role of Long Noncoding RNAs in Central Nervous System and Neurodegenerative Diseases.Frontiers in behavioral neuroscience · 2018Review
- Differentiation-Dependent Regulation of Human Endogenous Retrovirus K Sequences and Neighboring Genes in Germ Cell Tumor Cells.Frontiers in microbiology · 2018Article
- Article
- Review
- Association between long non-coding RNA and human rare diseases (Review).Biomedical reports · 2014Article
- Neurodegeneration as an RNA disorder.Progress in neurobiology · 2012Review
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- A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review.BMC medical genetics · 2009Review
- Regulation of neural macroRNAs by the transcriptional repressor REST.RNA (New York, N.Y.) · 2009Article
- The Evf-2 noncoding RNA is transcribed from the Dlx-5/6 ultraconserved region and functions as a Dlx-2 transcriptional coactivator.Genes & development · 2006Article
- Experimental validation of the regulated expression of large numbers of non-coding RNAs from the mouse genome.Genome research · 2006Article
- RNAdb--a comprehensive mammalian noncoding RNA database.Nucleic acids research · 2005Article
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
Abstract
Most cases of DiGeorge syndrome (DGS) and related abnormalities are associated with deletions within 22q11. Shortest region of deletion overlap (SRO) mapping previously identified a critical region (the DGCR) of 500 kb, which was presumed to contain a gene or genes of major effect in the haploinsufficiency syndromes. The DGCR also contains sequences disrupted by a balanced translocation that is associated with DGS--the ADU breakpoint. We have cloned sequences at the breakpoint and screened for novel genes in its vicinity. A series of alternatively spliced transcripts expressed during human and murine embryogenesis, but with no obvious protein encoding potential, were identified. The gene encoding these RNAs has been named DGCR5 and it is disrupted by the patient ADU breakpoint. DGCR5 is distinct from the DGCR3 open reading frame (ORF) previously shown to be interrupted by the ADU translocation, although DGCR3 is embedded within a DGCR5 intron and in the same (predicted) transcriptional orientation. No mutations of DGCR5 have yet been detected. By analogy to other loci encoding conserved, nontranslated RNAs, it is possible that DGCR5 originates from a cis-acting transcriptional control element in the vicinity of the ADU/VDU breakpoint. Disruption of such an element would result in altered transcription of neighboring genes secondary to a position effect, a hypothesis in keeping with recent refinement of the SRO placing the ADU breakpoint outside the DGCR.
Indexed as
Identifiers
8659529PMC1915101W1576192069What 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.