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Cat eye syndrome chromosome region, candidate 1

This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein may act as a growth factor and have adenosine deaminase activity. It may be responsible for some of the phenotypic features associated with cat eye syndrome. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: catalase, ADA2, V1a, OUT, CAN
Papers on CECR1
IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation.
Hofer et al., Lausanne, Switzerland. In J Allergy Clin Immunol, Dec 2015
Array-based comparative genomic hybridization analysis showed that both siblings are homozygous for a 770-kb deletion on chr22q11.1 encompassing both IL17RA and cat eye critical region 1 (CECR1).
Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa.
Gibson et al., Turku, Finland. In Jama Dermatol, Dec 2015
OBSERVATIONS: In this report, we describe 2 white siblings (female and male) with a history of cPAN with DADA2 as a result of novel compound heterozygous mutations inherited in trans in the CECR1 gene (c.37_39del
Genetics of vasculitis.
González-Gay et al., Johannesburg, South Africa. In Curr Opin Rheumatol, 2015
These associations include ERAP1, CCR1-CCR3, STAT4, KLRC4, GIMAP4, and TNFAIP3 in Behçet's disease; BLK and CD40 in Kawasaki disease; SERPINA1 and SEMA6A in antineutrophil cytoplasmic antibody associated vasculitides; IL12B and FCGR2A/ FCGR2A in Takayasu arteritis; and CECR1 in a newly defined vascular inflammatory syndrome associated with adenosine deaminase (ADA2) deficiency.
When less is more: primary immunodeficiency with an autoinflammatory kick.
Kastner et al., Bethesda, United States. In Curr Opin Allergy Clin Immunol, 2014
First, a phenotypic spectrum, including livedo racemosa, fever with early-onset stroke, polyarteritis nodosa, and Sneddon syndrome, is caused by loss-of-function mutations in cat eye syndrome chromosome region, candidate 1 (CECR1), encoding adenosine deaminase 2. Adenosine deaminase 2 is a secreted protein expressed primarily in myeloid cells, and a regulator of macrophage differentiation and endothelial development.
Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy.
Tekin et al., Miami, United States. In Eur J Pediatr, 2014
UNLABELLED: Adenosine deaminase 2 (ADA2) deficiency due to CECR1 mutations is a recently defined disorder that involves systemic inflammation and vasculopathy often associated with polyarteritis nodosa.
Early-onset stroke and vasculopathy associated with mutations in ADA2.
Aksentijevich et al., Aş Şanamayn, Syria. In N Engl J Med, 2014
RESULTS: All nine patients carried recessively inherited mutations in CECR1 (cat eye syndrome chromosome region, candidate 1), encoding adenosine deaminase 2 (ADA2), that were predicted to be deleterious; these mutations were rare or absent in healthy controls.
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.
Levy-Lahad et al., Aş Şanamayn, Syria. In N Engl J Med, 2014
RESULTS: In all the families, vasculitis was caused by recessive mutations in CECR1, the gene encoding adenosine deaminase 2 (ADA2).
Glycoproteomic analysis identifies human glycoproteins secreted from HIV latently infected T cells and reveals their presence in HIV+ plasma.
Jackson et al., Baltimore, United States. In Clin Proteomics, 2013
Comparison between T cell and plasma revealed that six glycoproteins (galectin-3-binding protein, L-selectin, neogenin, adenosine deaminase CECR1, ICOS ligand and phospholipid transfer protein) were significantly elevated in the HIV+ T cells and plasma studies.
Mutations in CECR1 associated with a neutrophil signature in peripheral blood.
Crow et al., Lyon, France. In Pediatr Rheumatol Online J, 2013
BACKGROUND: A reduction of ADA2 activity due to autosomal recessive loss of function mutations in CECR1 results in a newly described vasculopathic phenotype reminiscent of polyarteritis nodosa, with manifestations ranging from fatal systemic vasculitis with multiple strokes in children to limited cutaneous disease in middle-aged individuals.
Plasma adenosine deaminase isoform 2 in cancer patients undergoing chemotherapy.
Roberts et al., Aberystwyth, United Kingdom. In Br J Biomed Sci, 2011
Plasma AD2 may have a role in determining tumour response to treatment.
Integrated, genome-wide screening for hypomethylated oncogenes in salivary gland adenoid cystic carcinoma.
Ha et al., Baltimore, United States. In Clin Cancer Res, 2011
After initial validation, eight candidates showed hypomethylation in ACC: AQP1, CECR1, C1QR1, CTAG2, P53AIP1, TDRD12, BEX1, and DYNLT3.
Structural basis for the growth factor activity of human adenosine deaminase ADA2.
Zavialov et al., Uppsala, Sweden. In J Biol Chem, 2010
The crystal structures of ADA2 and ADA2 bound to a transition state analogue presented here reveal the structural basis of the catalytic/signaling activity of adenosine deaminase growth factor/ADA2 proteins.
The extracellular adenosine deaminase growth factor, ADGF/CECR1, plays a role in Xenopus embryogenesis via the adenosine/P1 receptor.
Homma et al., Tokyo, Japan. In J Biol Chem, 2008
Adenosine deaminase-related growth factors (ADGF), also known as CECR1 in vertebrates, are a novel family of growth factors with sequence similarity to classical cellular adenosine deaminase.
Phylogenetic analysis reveals a novel protein family closely related to adenosine deaminase.
McDermid et al., Edmonton, Canada. In J Mol Evol, 2005
A group of proteins with similarity to ADA, the adenosine deaminase-related growth factors (ADGF; known as CECR1 in vertebrates), has been described recently in various organisms.
Human ADA2 belongs to a new family of growth factors with adenosine deaminase activity.
Engström et al., Moscow, Russia. In Biochem J, 2005
findings show ADA2 is encoded by the CECR1 gene & belongs to novel family of ADA-related growth factors;ADA2 may be active in sites of inflammation during hypoxia & in areas of tumour growth where adenosine is elevated & extracellular pH is acidic
Mollusk-derived growth factor and the new subfamily of adenosine deaminase-related growth factors.
Nagle et al., Galveston, United States. In Curr Pharm Des, 2003
In this review, we describe a newly isolated growth factor from Aplysia californica, mollusk derived growth factor (MDGF), that is a member of the adenosine deaminase-related growth factor (ADGF) subfamily.
Control of metallic corrosion through microbiological route.
Rengaswamy et al., Kāraikkudi, India. In Indian J Exp Biol, 2003
In addition, some of the significant contributions made by CECRI in this promising area are highlighted.
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