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DGCR2 DiGeorge syndrome critical region gene 2

DGCR2
Top mentioned proteins: HAD, Brachyury, GATA3, IDD, FACT
Papers on DGCR2
A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation.
Wang et al., Taipei, Taiwan. In Taiwan J Obstet Gynecol, 2014
microduplication encompassed 20 genes including USP18, DGCR6, PRODH, and DGCR2.
Novel combination markers for predicting survival in patients with muscle invasive bladder cancer: USP18 and DGCR2.
Kim et al., Ch'ŏngju, South Korea. In J Korean Med Sci, 2014
The expression of USP18, DGCR2, and ZNF699 genes were measured and we analyzed the association between gene signatures and survival.
Novel pancreatic beta cell-specific proteins: antibody-based proteomics for identification of new biomarker candidates.
Danielsson et al., Uppsala, Sweden. In J Proteomics, 2012
In the present study, we present four proteins; DGCR2, GBF1, GPR44 and SerpinB10, the expression of which has not previously been described in beta cells.
Clinical description of a patient carrying the smallest reported deletion involving 10p14 region.
Andria et al., Napoli, Italy. In Am J Med Genet A, 2012
Haploinsufficiency of a more proximal region, located on 10p13-10p14, designated as DGCR2 is associated with congenital heart defects and thymus hypoplasia/aplasia or T cell defect.
Exome sequencing supports a de novo mutational paradigm for schizophrenia.
Impact
Karayiorgou et al., New York City, United States. In Nat Genet, 2011
We identified 40 de novo mutations in 27 cases affecting 40 genes, including a potentially disruptive mutation in DGCR2, a gene located in the schizophrenia-predisposing 22q11.2
10p12.1 deletion: HDR phenotype without DGS2 features.
Artifoni et al., Padova, Italy. In Exp Mol Pathol, 2009
including both HDR locus and the DiGeorge critical region 2 (DGCR2), with HDR phenotype but not DiGeorge syndrome 2 features.
Molecular mechanisms of schizophrenia.
Review
Gallinat et al., Berlin, Germany. In Cell Physiol Biochem, 2006
DISC1, RGS4, PRODH, DGCR6, ZDHHC8, DGCR2, Akt, CREB, IL-1B, IL-1RN, IL-10, IL-1B.
A complete genetic association scan of the 22q11 deletion region and functional evidence reveal an association between DGCR2 and schizophrenia.
Darvasi et al., Oxford, United Kingdom. In Hum Genet, 2006
The pattern of association and linkage disequilibrium (LD) in the second region suggest that DGCR2, which encodes a putative adhesion receptor protein, is the susceptibility gene.
Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p.
Vekemans et al., München, Germany. In J Mol Med (berl), 2002
The phenotype is the result of haploinsufficiency of at least two regions on 10p, the HDR1 region associated with hypoparathyroidism, sensorineural deafness, and renal defects (HDR syndrome) and the more proximal region DGCR2 responsible for heart defects and thymus hypoplasia/aplasia.
Prader Willi/Angelman and DiGeorge/velocardiofacial syndrome deletions: diagnosis by primed in situ labeling (PRINS).
Wilroy et al., Memphis, United States. In Am J Med Genet, 2002
For DGS/VCFS, the primers used were DGCR2/TUPLE1 loci.
High-density single-nucleotide polymorphism (SNP) map in the 96-kb region containing the entire human DiGeorge syndrome critical region 2 (DGCR2) gene at 22q11.2.
Tanaka et al., Tokyo, Japan. In J Hum Genet, 2000
We constructed a high-density single-nucleotide polymorphism (SNP) map in the 96-kb region containing the DiGeorge syndrome critical region 2 (DGCR2) gene at chromosome 22q11.2,
An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14.
Review
Schuffenhauer et al., München, Germany. In J Med Genet, 2000
A critical haploinsufficiency region for DGS/VCFS was defined on 10p (DGCR2).
A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11.
Budarf et al., Philadelphia, United States. In Hum Mol Genet, 1996
Of the 11 transcripts, one is the previously reported DGCR2/IDD/LAN gene, and three revealed a high level of similarity to mammalian genes: a Mus musculus serine/threonine kinase, a rat tricarboxylate transport protein and a bovine clathrin heavy chain.
Cloning of SEZ-12 encoding seizure-related and membrane-bound adhesion protein.
Sugaya et al., Japan. In Biochem Biophys Res Commun, 1996
The deduced amino acid sequence of SEZ-12 revealed that it encodes membrane-bound C-type lectin and has a significant homology to that of human cDNA, DGCR2 and IDD, which were cloned from a balanced translocation breakpoint associated with the DiGeorge syndrome.
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