Citations for
1HPSE2, LRIG2, UFS2
LRIG2 Mutations Cause Urofacial Syndrome.
Stuart HM, Roberts NA, Burgu B, Daly SB, Urquhart JE, Bhaskar S, Dickerson JE, Mermerkaya M, Silay MS, Lewis MA, Olondriz MB, Gener B, Beetz C, Varga RE, Gülpınar O, Süer E, Soygür T, Ozçakar ZB, Yalçınkaya F, Kavaz A, Bulum B, Gücük A, Yue WW, Erdogan F, Berry A, Hanley NA, McKenzie EA, Hilton EN, Woolf AS, Newman WG.
Am J Hum Genet 92(2):259-64. doi: 10.1016/j.ajhg.2012.12.002. Epub 2013 Jan 11. 2013
2HPSE2, UFS
First HPSE2 missense mutation in urofacial syndrome.
Mahmood S, Beetz C, Tahir MM, Imran M, Mumtaz R, Bassmann I, Jahic A, Malik M, Nürnberg G, Hassan SA, Rana S, Nürnberg P, Hübner CA.
Clin Genet 81(1):88-92. doi: 10.1111/j.1399-0004.2011.01649.x. Epub 2011 Mar 10. 2012
3HPSE2, UFS
Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.
Pang J, Zhang S, Yang P, Hawkins-Lee B, Zhong J, Zhang Y, Ochoa B, Agundez JA, Voelckel MA, Gu W, Xiong WC, Mei L, She JX, Wang CY.
Am J Hum Genet 86(6):957-62.PMID: 20560209 2010
4HPSE2, UFS
Mutations in HPSE2 cause urofacial syndrome.
Daly SB, Urquhart JE, Hilton E, McKenzie EA, Kammerer RA, Lewis M, Kerr B, Stuart H, Donnai D, Long DA, Burgu B, Aydogdu O, Derbent M, Garcia-Minaur S, Reardon W, Gener B, Shalev S, Smith R, Woolf AS, Black GC, Newman WG.
Am J Hum Genet 86(6):963-9.PMID: 20560210 2010
5HPSE2
Decidual heparanase activity is increased during pregnancy in the baboon (Papio anubis) and in in vitro decidualization of human stromal cells.
D'Souza SS, Fazleabas AT, Banerjee P, Sherwin JR, Sharkey AM, Farach-Carson MC, Carson DD.
Biol Reprod 78(2):316-23. Epub 2007 Nov 7. 2008
6HPSE2
Cloning and expression profiling of Hpa2, a novel mammalian heparanase family member.
McKenzie E, Tyson K, Stamps A, Smith P, Turner P, Barry R, Hircock M, Patel S, Barry E, Stubberfield C, Terrett J, Page M.
Biochem Biophys Res Commun 276(3):1170-7. 2000