cytosolic Cu/Zn superoxide dismutase
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Articles
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SOD1
23 September 2003 -
ATR-associated diseases
13 April 2005Members of the PIK (phosphatidylinositol kinase)-related kinase family are high molecular weight kinases involved in cell cycle progression, DNA recombination, and the detection of DNA damage.
The human ATM gene (MIM.607585) is defective in cells of patients with ataxia-telangiectasia (MIM. 208900).
ATM is involved in detection and response of cells to damaged DNA and is a member of this family.
Another member is ATR (FRAP) (MIM.601231), involved in a rapamycin-sensitive pathway leading (...) -
PAX5
11 May 2005PAX-5
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TOP1
20 July 2010topoisomerase (DNA) I
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LIM2
17 October 2003Pathology
mutations the autosomal recessive presenile cataract (#11917274#) -
GFAP
18 March 2004Glial fibrillary acidic protein
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PVRL1
15 December 2004cell-cell adhesion molecule/herpesvirus receptor
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PECAM1
9 February 2006PECAM-1; CD31 PO WP
Definition: PECAM1 (or CD31) is a member of the immunoglobulin (Ig) superfamily that is expressed on the surface of circulating platelets, monocytes, neutrophils, and particular T-cell subsets. PECAM1 is also a major constituent of the endothelial cell intercellular junction, where up to an estimated 1 million molecules are concentrated.
Functions
Because of this cellular expression pattern, PECAM1 is implicated in several functions, including transendothelial (...) -
CRYBB1
16 October 2003betaB1-crystallin
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GRIA2
9 September 2015GRIA2 ; GLUR2; GLURB; GluA2; GluR-K2; HBGR2 WKP
Expression in tumors
A GRIA2 and PAX8-positive renal solitary fibrous tumor with NAB2-STAT6 gene fusion. (#26337721#)
Open references
A GRIA2 and PAX8-positive renal solitary fibrous tumor with NAB2-STAT6 gene fusion. Ichiyanagi O, Ito H, Takai S, Naito S, Kato T, Nagaoka A, Yamakawa M. Diagn Pathol. 2015 Sep 4;10(1):155. doi:10.1186/s13000-015-0386-x . PMID: #26337721# (...)
