| 1 | EFEMP2, EMILIN1, LOX, VGTAO
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| EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis
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| Adamo CS, Beyens A, Schiavinato A, Keene DR, Tufa SF, Mörgelin M, Brinckmann J, Sasaki T, Niehoff A, Dreiner M, Pottie L, Muiño-Mosquera L, Gulec EY, Gezdirici A, Braghetta P, Bonaldo P, Wagener R, Paulsson M, Bornaun H, De Rycke R, De Bruyne M, Baeke F, Devine WP, Gangaram B, Tam A, Balasubramanian M, Ellard S, Moore S, Symoens S, Shen J, Cole S, Schwarze U, Holmes KW, Hayflick SJ, Wiszniewski W, Nampoothiri S, Davis EC, Sakai LY, Sengle G, Callewaert B.
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| Am J Hum Genet. Dec 1;109(12):2230-2252. doi: 10.1016/j.ajhg.2022.10.010. Epub 2022 Nov 8. 2022
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| 2 | EMILIN1
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| Inactivation of EMILIN-1 by Proteolysis and Secretion in Small Extracellular Vesicles Favors Melanoma Progression and Metastasis
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| Amor López A, Mazariegos MS, Capuano A, Ximénez-Embún P, Hergueta-Redondo M, Recio JÁ, Muñoz E, Al-Shahrour F, Muñoz J, Megías D, Doliana R, Spessotto P, Peinado H.
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| Int J Mol Sci. Jul 9;22(14):7406. doi: 10.3390/ijms22147406. 2021
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| 3 | DHMN10, EMILIN1
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| Distal motor neuropathy associated with novel EMILIN1 mutation
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| Iacomino M, Doliana R, Marchese M, Capuano A, Striano P, Spessotto P, Bosisio G, Iodice R, Manganelli F, Lanteri P, Orsini A, Baldassari S, Baratto S, Fruscione F, Prada V, Broda P, Tessa A, Bertocci G, Schenone A, Colombatti A, Minetti C, Santorelli FM, Zara F, Fiorillo C.
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| Neurobiol Dis. Apr;137:104757. doi: 10.1016/j.nbd.2020.104757. Epub 2020 Jan 21 2020
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| 4 | ACE2, DPP4, EMILIN1, EMILIN2
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| Expression profiles of the SARS-CoV-2 host invasion genes in nasopharyngeal and oropharyngeal swabs of COVID-19 patients
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| Amati F, Vancheri C, Latini A, Colona VL, Grelli S, D'Apice MR, Balestrieri E, Passarelli C, Minutolo A, Loddo S, Di Lorenzo A, Rogliani P, Andreoni M, Novelli G.
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| Heliyon. Oct;6(10):e05143. doi: 10.1016/j.heliyon.2020.e05143. Epub 2020 Oct 1. 2020
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| 5 | EMILIN1, EMILIN2, EMILIN3
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| EMILIN proteins are novel extracellular constituents of the dentin-pulp complex.
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| Imhof T, Korkmaz Y, Koch M, Sengle G, Schiavinato A.
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| Sci Rep. Sep 18;10(1):15320. doi: 10.1038/s41598-020-72123-2. 2020
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| 6 | EMILIN1, TSPAN9
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| TSPAN9 and EMILIN1 synergistically inhibit the migration and invasion of gastric cancer cells by increasing TSPAN9 expression
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| Qi Y, Lv J, Liu S, Sun L, Wang Y, Li H, Qi W, Qiu W.
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| BMC Cancer. Jun 26;19(1):630. doi: 10.1186/s12885-019-5810-2. 2019
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| 7 | EMILIN1
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| Elastin microfibril interface-located protein 1, transforming growth factor beta, and implications on cardiovascular complications
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| Randell A, Daneshtalab N.
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| J Am Soc Hypertens. Jul;11(7):437-448. doi: 10.1016/j.jash.2017.04.010. Epub 2017 May 3 2017
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| 8 | EMILIN1, VGTAO
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| Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease
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| Capuano A, Bucciotti F, Farwell KD, Tippin Davis B, Mroske C, Hulick PJ, Weissman SM, Gao Q, Spessotto P, Colombatti A, Doliana R.
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| Hum Mutat. Jan;37(1):84-97. doi: 10.1002/humu.22920. Epub 2015 Nov 4. 2016
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| 9 | EMILIN1, EMILIN2
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| Targeting of EMILIN-1 and EMILIN-2 to Fibrillin Microfibrils Facilitates their Incorporation into the Extracellular Matrix.
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| Schiavinato A, Keene DR, Wohl AP, Corallo D, Colombatti A, Wagener R, Paulsson M, Bonaldo P, Sengle G.
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| J Invest Dermatol. Jun;136(6):1150-1160. doi: 10.1016/j.jid.2016.02.021. Epub 2016 Mar 2. 2016
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| 10 | EMILIN1, EMILIN2
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| Multiple-interactions among EMILIN1 and EMILIN2 N- and C-terminal domains
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| Bot S, Andreuzzi E, Capuano A, Schiavinato A, Colombatti A, Doliana R.
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| Matrix Biol. Jan;41:44-55. doi: 10.1016/j.matbio.2014.10.001. Epub 2014 Nov 1. 2015
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| 11 | EMILIN1, EMILIN2
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| EMILIN2 regulates platelet activation, thrombus formation, and clot retraction.
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| Huang M, Sannaningaiah D, Zhao N, Gong Y, Grondolsky J, Hoover-Plow J.
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| PLoS One. Feb 6;10(2):e0115284. doi: 10.1371/journal.pone.0115284. 2015
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| 12 | ELANE, EMILIN1
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| Neutrophil elastase-dependent cleavage compromises the tumor suppressor role of EMILIN1.
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| Pivetta E, Danussi C, Wassermann B, Modica TM, Del Bel Belluz L, Canzonieri V, Colombatti A, Spessotto P.
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| Matrix Biol 34:22-32. doi: 10.1016/j.matbio.2014.01.018. Epub 2014 Feb 7.
2014
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| 13 | EMILIN1
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| Vascular smooth muscle Emilin-1 is a regulator of arteriolar myogenic response and blood pressure
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| Litteri G, Carnevale D, D'Urso A, Cifelli G, Braghetta P, Damato A, Bizzotto D, Landolfi A, Ros FD, Sabatelli P, Facchinello N, Maffei A, Volpin D, Colombatti A, Bressan GM, Lembo G.
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| Arterioscler Thromb Vasc Biol. Sep;32(9):2178-84. doi: 10.1161/ATVBAHA.112.254664. Epub 2012 Jul 19. 2012
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| 14 | CNGA3, EMILIN1, PDE6C
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| CNGA3 is expressed in inner ear hair cells and binds to an intracellular C-terminus domain of EMILIN1
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| Selvakumar D, Drescher MJ, Dowdall JR, Khan KM, Hatfield JS, Ramakrishnan NA, Drescher DG.
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| Biochem J. Apr 15;443(2):463-76. doi: 10.1042/BJ20111255. 2012
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| 15 | EMILIN1, ITGA9
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| EMILIN1-α4/α9 integrin interaction inhibits dermal fibroblast and keratinocyte proliferation.
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| Danussi C, Petrucco A, Wassermann B, Pivetta E, Modica TM, Del Bel Belluz L, Colombatti A, Spessotto P.
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| J Cell Biol 195(1):131-45. Epub 2011 Sep 26.
2011
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| 16 | EMILIN1
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| Association study of the elastin microfibril interfacer 1 (EMILIN1) gene in essential hypertension.
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| Shimodaira M, Nakayama T, Sato N, Naganuma T, Yamaguchi M, Aoi N, Sato M, Izumi Y, Soma M, Matsumoto K.
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| Am J Hypertens 23(5):547-55. Epub 2010 Feb 25.PMID: 20186130 2010
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| 17 | EMILIN1
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| NMR-based homology model for the solution structure of the C-terminal globular domain of EMILIN1.
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| Verdone G, Corazza A, Colebrooke SA, Cicero D, Eliseo T, Boyd J, Doliana R, Fogolari F, Viglino P, Colombatti A, Campbell ID, Esposito G.
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| J Biomol NMR 43(2):79-96. Epub 2008 Nov 21.PMID: 19023665 2009
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| 18 | EMILIN1
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| Emilin1 gene and essential hypertension: a two-stage association study in northern Han Chinese population.
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| Shen C, Lu X, Li Y, Zhao Q, Liu X, Hou L, Wang L, Chen S, Huang J, Gu D.
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| BMC Med Genet 10:118.PMID: 19922630 2009
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| 19 | EMILIN1
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| Emilin1 deficiency causes structural and functional defects of lymphatic vasculature.
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| Danussi C, Spessotto P, Petrucco A, Wassermann B, Sabatelli P, Montesi M, Doliana R, Bressan GM, Colombatti A.
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| Mol Cell Biol 28(12):4026-39. Epub 2008 Apr 14.PMID: 18411305 2008
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| 20 | EMILIN1
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| The solution structure of EMILIN1 globular C1q domain reveals a disordered insertion necessary for interaction with the alpha4beta1 integrin.
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| Verdone G, Doliana R, Corazza A, Colebrooke SA, Spessotto P, Bot S, Bucciotti F, Capuano A, Silvestri A, Viglino P, Campbell ID, Colombatti A, Esposito G.
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| J Biol Chem 283(27):18947-56. Epub 2008 May 7.PMID: 18463100 2008
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| 21 | EMILIN1
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| Emilin1 links TGF-beta maturation to blood pressure homeostasis.
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| Zacchigna L, Vecchione C, Notte A, Cordenonsi M, Dupont S, Maretto S, Cifelli G, Ferrari A, Maffei A, Fabbro C, Braghetta P, Marino G, Selvetella G, Aretini A, Colonnese C, Bettarini U, Russo G, Soligo S, Adorno M, Bonaldo P, Volpin D, Piccolo S, Lembo G, Bressan GM.
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| Cell 124(5):929-42. 2006
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| 22 | EMILIN1
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| EMILIN1 represents a major stromal element determining human trophoblast invasion of the uterine wall.
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| Spessotto P, Bulla R, Danussi C, Radillo O, Cervi M, Monami G, Bossi F, Tedesco F, Doliana R, Colombatti A.
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| J Cell Sci 119(Pt 21):4574-84.
2006
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| 23 | EMILIN1
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| beta 1 Integrin-dependent cell adhesion to EMILIN-1 is mediated by the gC1q domain.
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| Spessotto P, Cervi M, Mucignat MT, Mungiguerra G, Sartoretto I, Doliana R, Colombatti A.
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| J Biol Chem 278(8):6160-7. Epub 2002 Nov 26. 2003
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| 24 | EMILIN1, KHK
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| Structure, chromosomal localization, and promoter analysis of the human elastin microfibril interfase located proteIN (EMILIN) gene.
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| Doliana R, Canton A, Bucciotti F, Mongiat M, Bonaldo P, Colombatti A.
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| J Biol Chem 275(2):785-92. 2000
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| 25 | EMILIN1
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| Self-assembly and supramolecular organization of EMILIN.
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| Mongiat M, Mungiguerra G, Bot S, Mucignat MT, Giacomello E, Doliana R, Colombatti A.
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| J Biol Chem 275(33):25471-80. 2000
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| 26 | EMILIN1, EMILIN2, MMRN1
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| EMI, a novel cysteine-rich domain of EMILINs and other extracellular proteins, interacts with the gC1q domains and participates in multimerization.
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| Doliana R, Bot S, Bonaldo P, Colombatti A.
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| FEBS Lett 484(2):164-8. 2000
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| 27 | EMILIN1
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| Elastic fiber proteins in the glomerular mesangium in vivo and in cell culture.
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| Sterzel RB, Hartner A, Schlotzer-Schrehardt U, Voit S, Hausknecht B, Doliana R, Colombatti A, Gibson MA, Braghetta P, Bressan GM.
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| Kidney Int 58(4):1588-602. 2000
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