TIMP3

TIMP metallopeptidase inhibitor 3 (Sorsby fundus dystrophy, pseudoinflammatory), also known as TIMP3, is a human gene.

PBB_Summary
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summary_text = This gene belongs to the tissue inhibitor of metalloproteinases gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix (ECM). Expression of this gene is induced in response to mitogenic stimulation and this netrin domain-containing protein is localized to the ECM. Mutations in this gene have been associated with the autosomal dominant disorder Sorsby's fundus dystrophy. [cite web | title = Entrez Gene: TIMP3 TIMP metallopeptidase inhibitor 3 (Sorsby fundus dystrophy, pseudoinflammatory)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7078| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Li Z, Clarke MP, Barker MD, McKie N |title=TIMP3 mutation in Sorsby's fundus dystrophy: molecular insights. |journal=Expert reviews in molecular medicine |volume=7 |issue= 24 |pages= 1–15 |year= 2007 |pmid= 16259644 |doi= 10.1017/S1462399405010045
*cite journal | author=Docherty AJ, Lyons A, Smith BJ, "et al." |title=Sequence of human tissue inhibitor of metalloproteinases and its identity to erythroid-potentiating activity. |journal=Nature |volume=318 |issue= 6041 |pages= 66–9 |year= 1985 |pmid= 3903517 |doi=
*cite journal | author=Forsius HR, Eriksson AW, Suvanto EA, Alanko HI |title=Pseudoinflammatory fundus dystrophy with autosomal recessive inheritance. |journal=Am. J. Ophthalmol. |volume=94 |issue= 5 |pages= 634–49 |year= 1983 |pmid= 7148944 |doi=
*cite journal | author=Wick M, Härönen R, Mumberg D, "et al." |title=Structure of the human TIMP-3 gene and its cell cycle-regulated promoter. |journal=Biochem. J. |volume=311 ( Pt 2) |issue= |pages= 549–54 |year= 1995 |pmid= 7487894 |doi=
*cite journal | author=Jacobson SG, Cideciyan AV, Regunath G, "et al." |title=Night blindness in Sorsby's fundus dystrophy reversed by vitamin A. |journal=Nat. Genet. |volume=11 |issue= 1 |pages= 27–32 |year= 1995 |pmid= 7550309 |doi= 10.1038/ng0995-27
*cite journal | author=Higuchi T, Kanzaki H, Nakayama H, "et al." |title=Induction of tissue inhibitor of metalloproteinase 3 gene expression during in vitro decidualization of human endometrial stromal cells. |journal=Endocrinology |volume=136 |issue= 11 |pages= 4973–81 |year= 1995 |pmid= 7588231 |doi=
*cite journal | author=Wilde CG, Hawkins PR, Coleman RT, "et al." |title=Cloning and characterization of human tissue inhibitor of metalloproteinases-3. |journal=DNA Cell Biol. |volume=13 |issue= 7 |pages= 711–8 |year= 1995 |pmid= 7772252 |doi=
*cite journal | author=Apte SS, Olsen BR, Murphy G |title=The gene structure of tissue inhibitor of metalloproteinases (TIMP)-3 and its inhibitory activities define the distinct TIMP gene family. |journal=J. Biol. Chem. |volume=270 |issue= 24 |pages= 14313–8 |year= 1995 |pmid= 7782289 |doi=
*cite journal | author=Kishnani NS, Staskus PW, Yang TT, "et al." |title=Identification and characterization of human tissue inhibitor of metalloproteinase-3 and detection of three additional metalloproteinase inhibitor activities in extracellular matrix. |journal=Matrix Biol. |volume=14 |issue= 6 |pages= 479–88 |year= 1995 |pmid= 7795886 |doi=
*cite journal | author=Weber BH, Vogt G, Pruett RC, "et al." |title=Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. |journal=Nat. Genet. |volume=8 |issue= 4 |pages= 352–6 |year= 1995 |pmid= 7894485 |doi= 10.1038/ng1294-352
*cite journal | author=Weber BH, Vogt G, Wolz W, "et al." |title=Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter. |journal=Nat. Genet. |volume=7 |issue= 2 |pages= 158–61 |year= 1994 |pmid= 7920634 |doi= 10.1038/ng0694-158
*cite journal | author=Jones SE, Jomary C, Neal MJ |title=Expression of TIMP3 mRNA is elevated in retinas affected by simplex retinitis pigmentosa. |journal=FEBS Lett. |volume=352 |issue= 2 |pages= 171–4 |year= 1994 |pmid= 7925969 |doi=
*cite journal | author=Wick M, Bürger C, Brüsselbach S, "et al." |title=A novel member of human tissue inhibitor of metalloproteinases (TIMP) gene family is regulated during G1 progression, mitogenic stimulation, differentiation, and senescence. |journal=J. Biol. Chem. |volume=269 |issue= 29 |pages= 18953–60 |year= 1994 |pmid= 8034652 |doi=
*cite journal | author=Silbiger SM, Jacobsen VL, Cupples RL, Koski RA |title=Cloning of cDNAs encoding human TIMP-3, a novel member of the tissue inhibitor of metalloproteinase family. |journal=Gene |volume=141 |issue= 2 |pages= 293–7 |year= 1994 |pmid= 8163205 |doi=
*cite journal | author=Uría JA, Ferrando AA, Velasco G, "et al." |title=Structure and expression in breast tumors of human TIMP-3, a new member of the metalloproteinase inhibitor family. |journal=Cancer Res. |volume=54 |issue= 8 |pages= 2091–4 |year= 1994 |pmid= 8174111 |doi=
*cite journal | author=Apte SS, Mattei MG, Olsen BR |title=Cloning of the cDNA encoding human tissue inhibitor of metalloproteinases-3 (TIMP-3) and mapping of the TIMP3 gene to chromosome 22. |journal=Genomics |volume=19 |issue= 1 |pages= 86–90 |year= 1994 |pmid= 8188246 |doi= 10.1006/geno.1994.1016
*cite journal | author=Byrne JA, Tomasetto C, Rouyer N, "et al." |title=The tissue inhibitor of metalloproteinases-3 gene in breast carcinoma: identification of multiple polyadenylation sites and a stromal pattern of expression. |journal=Mol. Med. |volume=1 |issue= 4 |pages= 418–27 |year= 1996 |pmid= 8521299 |doi=
*cite journal | author=Andersson B, Wentland MA, Ricafrente JY, "et al." |title=A "double adaptor" method for improved shotgun library construction. |journal=Anal. Biochem. |volume=236 |issue= 1 |pages= 107–13 |year= 1996 |pmid= 8619474 |doi= 10.1006/abio.1996.0138
*cite journal | author=Felbor U, Stöhr H, Amann T, "et al." |title=A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features. |journal=Hum. Mol. Genet. |volume=4 |issue= 12 |pages= 2415–6 |year= 1996 |pmid= 8634721 |doi=
*cite journal | author=Carrero-Valenzuela RD, Klein ML, Weleber RG, "et al." |title=Sorsby fundus dystrophy. A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3. |journal=Arch. Ophthalmol. |volume=114 |issue= 6 |pages= 737–8 |year= 1996 |pmid= 8639088 |doi=

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