ArticleMammalian genome : official journal of the International Mammalian Genome Society1996
Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and Velocardiofacial syndromes conserved in C. elegans.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
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Who cites it
11 citing papers in PubMed, 28 citations in OpenAlex.
- The Role of ESS2/DGCR14: Is It an Essential Factor in Splicing and Transcription?International journal of molecular sciences · 2025Review
- Article
- In the line-up: deleted genes associated with DiGeorge/22q11.2 deletion syndrome: are they all suspects?Journal of neurodevelopmental disorders · 2019Review
- The PHR proteins: intracellular signaling hubs in neuronal development and axon degeneration.Neural development · 2016Review
- DGCR14 induces Il17a gene expression through the RORγ/BAZ1B/RSKS2 complex.Molecular and cellular biology · 2015Article
- Systematic analyses of rpm-1 suppressors reveal roles for ESS-2 in mRNA splicing in Caenorhabditis elegans.Genetics · 2014Article
- Transmission disequilibrium test provides evidence of association between promoter polymorphisms in 22q11 gene DGCR14 and schizophrenia.Journal of neural transmission (Vienna, Austria : 1996) · 2006Article
- Direct selection of conserved cDNAs from the DiGeorge critical region: isolation of a novel CDC45-like gene.Genome research · 1998Article
- Comparative mapping of the DiGeorge syndrome region in mouse shows inconsistent gene order and differential degree of gene conservation.Mammalian genome : official journal of the International Mammalian Genome Society · 1997Article
- Cloning and mapping of murine Dgcr2 and its homology to the Sez-12 seizure-related protein.Mammalian genome : official journal of the International Mammalian Genome Society · 1997Article
- The DiGeorge syndrome minimal critical region contains a goosecoid-like (GSCL) homeobox gene that is expressed early in human development.American journal of human genetics · 1997Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 3 countries.
Funding
Abstract
We have identified and cloned a gene, ES2, encoding a putative 476 amino acid protein with a predicted Mr of 52,568. The gene is localized within the DiGeorge/Velocardiofacial syndrome locus on 22q11.2 and is deleted in all the patients in which a deletion within 22q11 could be demonstrated, with the exception of one patient. ES2 is expressed in all the tissues studied. Sequence comparison showed identity with five ESTs and at the amino acid level the sequence was highly similar to, and collinear with, a hypothetical C. elegans protein of unknown function. Mutation analysis was performed in 16 patients without deletion, but no mutation has been found. The cDNA sequence is conserved in mouse and is localized on MMU16B1-B3, known to contain a syntenic group in common with HSA 22q11.2.
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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.