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Extracellular matrix protein 1

ECM1, extracellular matrix protein 1, Extracellular matrix protein
This gene encodes a soluble protein that is involved in endochondral bone formation, angiogenesis, and tumor biology. It also interacts with a variety of extracellular and structural proteins, contributing to the maintenance of skin integrity and homeostasis. Mutations in this gene are associated with lipoid proteinosis disorder (also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease) that is characterized by generalized thickening of skin, mucosae and certain viscera. Alternatively spliced transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Feb 2011] (from NCBI)
Top mentioned proteins: CAN, HAD, fibronectin, CD45, ACID
Papers on ECM1
Extracellular matrix protein expression is brain region dependent.
New
Parker et al., Cambridge, United States. In J Comp Neurol, Feb 2016
UNASSIGNED: In the brain, extracellular matrix (ECM) components form networks that contribute to structural and functional diversity.
Treatment of lipoid proteinosis with acitretin in two patients from two unrelated Chinese families with novel nonsense mutations of the ECM1 gene.
New
Wang et al., Chongqing, China. In J Dermatol, Feb 2016
UNASSIGNED: Lipoid proteinosis is a rare recessive genetic disorder caused by loss-of-function mutations to chromosome 1 at 1q21, the extracellular matrix protein 1 (ECM1) gene.
Ameloblastin, an Extracellular Matrix Protein, Affects Long Bone Growth and Mineralization.
New
Luan et al., Bethesda, United States. In J Bone Miner Res, Feb 2016
UNASSIGNED: Matrix molecules such as the enamel-related calcium-binding phosphoprotein ameloblastin (AMBN) are expressed in multiple tissues, including teeth, bones and cartilage.
eQTL analysis links inflammatory bowel disease associated 1q21 locus to ECM1 gene.
New
Potočnik et al., Maribor, Slovenia. In J Appl Genet, Feb 2016
Furthermore, with eQTL analysis of selected chromosomal regions, we confirmed a link between SNP and gene for four (SLC22A5 on 5q, ECM1 on 1q, ORMDL3 on 17q, and PUS10 on 2p locus) out of five selected regions.
The Extracellular Matrix Protein Brevican Limits Time-Dependent Enhancement of Cocaine Conditioned Place Preference.
New
van den Oever et al., Amsterdam, Netherlands. In Neuropsychopharmacology, Jan 2016
Here, we investigated the role of the extracellular matrix protein brevican in recent (1 day after training) and remote (3 weeks after training) expression of cocaine conditioned place preference (CPP).
Epidermal growth factor-containing fibulin-like extracellular matrix protein 1 (EFEMP1) expression and regulation in uterine leiomyoma.
New
Bulun et al., Chicago, United States. In Fertil Steril, Jan 2016
OBJECTIVE: To determine the presence, differential expression, and regulation of epidermal growth factor-containing fibulin-like extracellular matrix protein 1 (EFEMP1) in uterine leiomyomas.
Adherence of Candida sp. to host tissues and cells as one of its pathogenicity features.
Review
Kurnatowski et al., Łódź, Poland. In Ann Parasitol, 2014
Various researchers specify a range of genes which contribute to adhesion, such as: CZF1, EFG1, TUP1, TPK1, TPK2, HGC1, RAS1, RIM101, VPS11, ECM1, CKA2, BCR1, BUD2, RSR1, IRS4, CHS2, SCS7, UBI4, UME6, TEC1 and GAT2.
Extracellular matrix protein 1, a novel prognostic factor, is associated with metastatic potential of hepatocellular carcinoma.
GeneRIF
Wang et al., Hefei, China. In Med Oncol, 2011
The expression of ECM1 was found to be an independent factor for predicting overall and disease-free survival of hepatocellular carcinoma.
Overexpression of ECM1 contributes to migration and invasion in cholangiocarcinoma cell.
GeneRIF
Liu et al., Wafangdian, China. In Neoplasma, 2011
Overexpression of ECM1 contributes to migration and invasion in cholangiocarcinoma.
Genetics of ulcerative colitis.
Review
Lees et al., Edinburgh, United Kingdom. In Inflamm Bowel Dis, 2011
Notably, genes implicated in mucosal barrier function (ECM1, CDH1, HNF4α, and laminin B1) confer risk of UC; furthermore, E-cadherin is the first genetic correlation between colorectal cancer and UC.
ECM1 controls T(H)2 cell egress from lymph nodes through re-expression of S1P(1).
Impact
Sun et al., Shanghai, China. In Nat Immunol, 2011
Here we demonstrate that extracellular matrix protein-1 (ECM1) is highly and selectively expressed in T(H)2 cells.
Molecular and neurological characterizations of three Saudi families with lipoid proteinosis.
GeneRIF
Bosley et al., Riyadh, Saudi Arabia. In Bmc Med Genet, 2010
neurologic and neuroradiologic characteristics and ECM1 gene mutations of seven individuals with lipoid proteinosis (LP) from three unrelated consanguineous families
Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family.
GeneRIF
Hameed et al., Islamabad, Pakistan. In Diagn Pathol, 2010
Case Report: a novel mutation in Pakistani family extends the body of evidence that supports the importance of ECM1 gene for the development of lipoid proteinosis.
Phospholipid scramblase 1 is secreted by a lipid raft-dependent pathway and interacts with the extracellular matrix protein 1 in the dermal epidermal junction zone of human skin.
GeneRIF
Sercu et al., Groningen, Netherlands. In J Biol Chem, 2010
PLSCR1 interacts with the tandem repeat region of ECM1a in the dermal epidermal junction zone of human skin.
Genetics of inflammatory bowel disease: implications for disease pathogenesis and natural history.
Review
Satsangi et al., Edinburgh, United Kingdom. In Expert Rev Gastroenterol Hepatol, 2009
IL10 and ECM1 are associated with UC, while inherited variation at the HLA region is related to an inflammatory colonic phenotype.
Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease.
Impact
GeneRIF
Satsangi et al., London, United Kingdom. In Nat Genet, 2008
Single Nucleotide Polymorphism in ECM1 gene is associated with ulcerative colitis
The extracellular matrix protein 1: its molecular interaction and implication in tumor progression.
Review
GeneRIF
Merregaert et al., Antwerp, Belgium. In Cancer Invest, 2008
A survey of ECM1 expression in different tumors indicated that ECM1, although not tumor specific, is significantly elevated in many malignant epithelial tumors that give rise to metastases, emphasizing its relevance in the cancer process. Review.
The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1.
Review
GeneRIF
McGrath et al., London, United Kingdom. In Exp Dermatol, 2007
This article provides an update on the molecular pathology of lipoid proteinosis, including the addition of 15 new mutations in ECM1 to the mutation database [review]
Autoantibodies to extracellular matrix protein 1 in lichen sclerosus.
Impact
McGrath et al., London, United Kingdom. In Lancet, 2003
The clinicopathological similarities between lichen sclerosus and lipoid proteinosis, which results from mutations in extracellular matrix protein 1 (ECM1), suggest this protein as an autoantigen.
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.
Impact
Schorderet et al., Iowa City, United States. In Nat Genet, 1999
Here we use a combination of positional and candidate gene methods to identify a single non-conservative mutation (Arg345Trp) in the gene EFEMP1 (for EGF-containing fibrillin-like extracellular matrix protein 1) in all families studied.
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