- ECM1
Extracellular matrix protein 1, also known as ECM1, is a human
gene .cite web | title = Entrez Gene: ECM1 extracellular matrix protein 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1893| accessdate = ]PBB_Summary
section_title =
summary_text = This gene encodes an extracellular protein containing motifs with a cysteine pattern characteristic of the cysteine pattern of the ligand-binding "double-loop" domains of the albumin protein family. This gene maps outside of the epidermal differentiation complex (EDC), a cluster of three gene families involved in epidermal differentiation. Alternatively spliced transcript variants encoding distinct isoforms have been described.cite web | title = Entrez Gene: ECM1 extracellular matrix protein 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1893| accessdate = ]ee also
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Lipoid proteinosis References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Viliavin GD, Panchenko KP, Nishanov F, Budaev KD |title= [Acid-producing function of the stomach in pyloric ulcers] |journal=Sovetskaia meditsina |volume= |issue= 12 |pages= 43–5 |year= 1978 |pmid= 601588 |doi=
*cite journal | author=Smits P, Ni J, Feng P, "et al." |title=The human extracellular matrix gene 1 (ECM1): genomic structure, cDNA cloning, expression pattern, and chromosomal localization. |journal=Genomics |volume=45 |issue= 3 |pages= 487–95 |year= 1998 |pmid= 9367673 |doi= 10.1006/geno.1997.4918
*cite journal | author=Johnson MR, Wilkin DJ, Vos HL, "et al." |title=Characterization of the human extracellular matrix protein 1 gene on chromosome 1q21. |journal=Matrix Biol. |volume=16 |issue= 5 |pages= 289–92 |year= 1998 |pmid= 9501329 |doi=
*cite journal | author=Smits P, Poumay Y, Karperien M, "et al." |title=Differentiation-dependent alternative splicing and expression of the extracellular matrix protein 1 gene in human keratinocytes. |journal=J. Invest. Dermatol. |volume=114 |issue= 4 |pages= 718–24 |year= 2000 |pmid= 10733679 |doi= 10.1046/j.1523-1747.2000.00916.x
*cite journal | author=Hamada T, McLean WH, Ramsay M, "et al." |title=Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). |journal=Hum. Mol. Genet. |volume=11 |issue= 7 |pages= 833–40 |year= 2002 |pmid= 11929856 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Hamada T, Wessagowit V, South AP, "et al." |title=Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. |journal=J. Invest. Dermatol. |volume=120 |issue= 3 |pages= 345–50 |year= 2003 |pmid= 12603844 |doi= 10.1046/j.1523-1747.2003.12073.x
*cite journal | author=Matsuda A, Suzuki Y, Honda G, "et al." |title=Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways. |journal=Oncogene |volume=22 |issue= 21 |pages= 3307–18 |year= 2003 |pmid= 12761501 |doi= 10.1038/sj.onc.1206406
*cite journal | author=Wang L, Yu J, Ni J, "et al." |title=Extracellular matrix protein 1 (ECM1) is over-expressed in malignant epithelial tumors. |journal=Cancer Lett. |volume=200 |issue= 1 |pages= 57–67 |year= 2003 |pmid= 14550953 |doi=
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Horev L, Potikha T, Ayalon S, "et al." |title=A novel splice-site mutation in ECM-1 gene in a consanguineous family with lipoid proteinosis. |journal=Exp. Dermatol. |volume=14 |issue= 12 |pages= 891–7 |year= 2006 |pmid= 16274456 |doi= 10.1111/j.1600-0625.2005.00374.x
*cite journal | author=Liu T, Qian WJ, Gritsenko MA, "et al." |title=Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. |journal=J. Proteome Res. |volume=4 |issue= 6 |pages= 2070–80 |year= 2006 |pmid= 16335952 |doi= 10.1021/pr0502065
*cite journal | author=Fujimoto N, Terlizzi J, Aho S, "et al." |title=Extracellular matrix protein 1 inhibits the activity of matrix metalloproteinase 9 through high-affinity protein/protein interactions. |journal=Exp. Dermatol. |volume=15 |issue= 4 |pages= 300–7 |year= 2006 |pmid= 16512877 |doi= 10.1111/j.0906-6705.2006.00409.x
*cite journal | author=Lim J, Hao T, Shaw C, "et al." |title=A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. |journal=Cell |volume=125 |issue= 4 |pages= 801–14 |year= 2006 |pmid= 16713569 |doi= 10.1016/j.cell.2006.03.032
*cite journal | author=Han B, Zhang X, Liu Q, "et al." |title=Homozygous missense mutation in the ECM1 gene in Chinese siblings with lipoid proteinosis. |journal=Acta Derm. Venereol. |volume=87 |issue= 5 |pages= 387–9 |year= 2007 |pmid= 17721643 |doi= 10.2340/00015555-0292PBB_Controls
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