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Volumn 105, Issue 3, 2011, Pages 454-460

Identification of three novel plasminogen (PLG) gene mutations in a series of 23 patients with low PLG activity

(21)  Klammt, Jürgen a   Kobelt, Louise a   Aktas, Dilek b   Durak, Ismet c   Gokbuget, Aslan d   Hughes, Quintin e   Irkec, Murat b   Kurtulus, Idil d   Lapi, Elisabetta f   Mechoulam, Hadas g   Mendoza Londono, Roberto h   Palumbo, Joseph S i   Steitzer, Hansjörg j   Tabbara, Khalid F k   Ozbek, Zeynep c   Pucci, Neri f   Sotomayor, Talia l   Sturm, Marian m   Drogies, Tim a   Ziegler, Maike a   more..


Author keywords

Clinical heterogeneity; Inherited hypoplasminogenaemia; PLG gene mutations

Indexed keywords

FRESH FROZEN PLASMA; HEPARIN; PLASMINOGEN;

EID: 79952498449     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH10-04-0216     Document Type: Article
Times cited : (42)

References (34)
  • 2
    • 57349139987 scopus 로고    scopus 로고
    • Long-term efficacy of surgical removal of pseudomembranes in a child with ligneous conjunctivitis treated with plasminogen eyedrops
    • Caputo R, Pucci N, Mori F, et al. Long-term efficacy of surgical removal of pseudomembranes in a child with ligneous conjunctivitis treated with plasminogen eyedrops. Thromb Haemost 2008; 100: 1196-1198.
    • (2008) Thromb Haemost , vol.100 , pp. 1196-1198
    • Caputo, R.1    Pucci, N.2    Mori, F.3
  • 3
    • 33751181659 scopus 로고    scopus 로고
    • Molecular and clinical spectrum of type I plasminogen deficiency: A series of 50 patients
    • Tefs K, Gueorguieva M, Klammt J, et al. Molecular and clinical spectrum of type I plasminogen deficiency: A series of 50 patients. Blood 2006; 108: 3021-3026.
    • (2006) Blood , vol.108 , pp. 3021-3026
    • Tefs, K.1    Gueorguieva, M.2    Klammt, J.3
  • 4
    • 0025261396 scopus 로고
    • Characterization of the gene for human plasminogen, a key proenzyme in the fibrinolytic system
    • Petersen TE, Martzen MR, Ichinose A, et al. Characterization of the gene for human plasminogen, a key proenzyme in the fibrinolytic system. J Biol Chem 1990; 265: 6104-6111.
    • (1990) J Biol Chem , vol.265 , pp. 6104-6111
    • Petersen, T.E.1    Martzen, M.R.2    Ichinose, A.3
  • 5
    • 0023147956 scopus 로고
    • Molecular cloning and characterization of a full-length cDNA clone for human plasminogen
    • DOI 10.1016/0014-5793(87)81501-6
    • Forsgren M, Raden B, Israelsson M, et al. Molecular cloning and characterization of a full-length cDNA clone for human plasminogen. FEBS Lett 1987; 213: 254-260. (Pubitemid 17043905)
    • (1987) FEBS Letters , vol.213 , Issue.2 , pp. 254-260
    • Forsgren, M.1    Raden, B.2    Israelsson, M.3
  • 6
    • 38349011394 scopus 로고    scopus 로고
    • Application of medical genetics in Turkey
    • Tuncbilek E, Ozguc M. Application of medical genetics in Turkey. Turk J Pediatr 2007; 49: 353-359.
    • (2007) Turk J Pediatr , vol.49 , pp. 353-359
    • Tuncbilek, E.1    Ozguc, M.2
  • 7
    • 33750375590 scopus 로고    scopus 로고
    • Genetic disorders in the Arab world
    • DOI 10.1136/bmj.38982.704931.AE
    • Al Gazali L, Hamamy H, Al Arrayad S. Genetic disorders in the Arab world. Br Med J 2006; 333: 831-834. (Pubitemid 44629264)
    • (2006) British Medical Journal , vol.333 , Issue.7573 , pp. 831-834
    • Al-Gazali, L.1    Hamamy, H.2    Al-Arrayad, S.3
  • 8
    • 17644424608 scopus 로고    scopus 로고
    • Calibration of 6q subtelomere deletions to define genotype/phenotype correlations
    • DOI 10.1111/j.1399-0004.2005.00424.x
    • Eash D, Waggoner D, Chung J, et al. Calibration of 6q subtelomere deletions to define genotype/phenotype correlations. Clin Genet 2005; 67: 396-403. (Pubitemid 40561489)
    • (2005) Clinical Genetics , vol.67 , Issue.5 , pp. 396-403
    • Eash, D.1    Waggoner, D.2    Chung, J.3    Stevenson, D.4    Martin, C.L.5
  • 9
    • 62149102653 scopus 로고    scopus 로고
    • Pseudomembranous disease (ligneous inflammation) of the female genital tract, peritoneum, gingiva, and paranasal sinuses associated with plasminogen deficiency
    • Chi AC, Prichard E, Richardson MS, et al. Pseudomembranous disease (ligneous inflammation) of the female genital tract, peritoneum, gingiva, and paranasal sinuses associated with plasminogen deficiency. Ann Diagn Pathol 2009; 13: 132-139.
    • (2009) Ann Diagn Pathol , vol.13 , pp. 132-139
    • Chi, A.C.1    Prichard, E.2    Richardson, M.S.3
  • 10
    • 62249212680 scopus 로고    scopus 로고
    • Ligneous cervicitis: An unusual cause of post-coital bleeding in a postmenopausal woman
    • Biswas J, Billingham K, Biswas S, et al. Ligneous cervicitis: an unusual cause of post-coital bleeding in a postmenopausal woman. J Obstet Gynaecol 2009; 29: 163-165.
    • (2009) J Obstet Gynaecol , vol.29 , pp. 163-165
    • Biswas, J.1    Billingham, K.2    Biswas, S.3
  • 11
    • 34548678897 scopus 로고    scopus 로고
    • Inherited plasminogen deficiency presenting as ligneous vaginitis: A case report with molecular correlation and review of the literature
    • DOI 10.1016/j.humpath.2007.05.007, PII S0046817707002651
    • Lotan TL, Tefs K, Schuster V, et al. Inherited plasminogen deficiency presenting as ligneous vaginitis: a case report with molecular correlation and review of the literature. Hum Pathol 2007; 38: 1569-1575. (Pubitemid 47418972)
    • (2007) Human Pathology , vol.38 , Issue.10 , pp. 1569-1575
    • Lotan, T.L.1    Tefs, K.2    Schuster, V.3    Miller, J.4    Manaligod, J.5    Filstead, A.6    Yamada, S.D.7    Krausz, T.8
  • 12
    • 66849117178 scopus 로고    scopus 로고
    • The first two Japanese cases of severe type I congenital plasminogen deficiency with ligneous conjunctivitis: Successful treatment with direct thrombin inhibitor and fresh plasma
    • Suzuki T, Ikewaki J, Iwata H, et al. The first two Japanese cases of severe type I congenital plasminogen deficiency with ligneous conjunctivitis: Successful treatment with direct thrombin inhibitor and fresh plasma. Am J Hematol 2009; 84: 363-365.
    • (2009) Am J Hematol , vol.84 , pp. 363-365
    • Suzuki, T.1    Ikewaki, J.2    Iwata, H.3
  • 14
    • 19344366251 scopus 로고    scopus 로고
    • Mechanistic links between nonsense-mediated mRNA decay and pre-mRNA splicing in mammalian cells
    • DOI 10.1016/j.ceb.2005.03.002, PII S0955067405000426, Nucleus and Gene Expression
    • Lejeune F, Maquat LE. Mechanistic links between nonsense-mediated mRNA decay and pre-mRNA splicing in mammalian cells. Curr Opin Cell Biol 2005; 17: 309-315. (Pubitemid 40719922)
    • (2005) Current Opinion in Cell Biology , vol.17 , Issue.3 , pp. 309-315
    • Lejeune, F.1    Maquat, L.E.2
  • 16
    • 0028121004 scopus 로고
    • Expression, purification and characterization of the recombinant kringle 2 and kringle 3 domains of human plasminogen and analysis of their binding affinity for omega-aminocarboxylic acids
    • Marti D, Schaller J, Ochensberger B, et al. Expression, purification and characterization of the recombinant kringle 2 and kringle 3 domains of human plasminogen and analysis of their binding affinity for omega-aminocarboxylic acids. Eur J Biochem 1994; 219: 455-462. (Pubitemid 24053662)
    • (1994) European Journal of Biochemistry , vol.219 , Issue.1-2 , pp. 455-462
    • Marti, D.1    Schaller, J.2    Ochensberger, B.3    Rickli, E.E.4
  • 17
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009; 4: 1073-1081.
    • (2009) Nat Protoc , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 18
    • 0036713510 scopus 로고    scopus 로고
    • Human non-synonymous SNPs: Server and survey
    • Ramensky V, Bork P, Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res 2002; 30: 3894-3900. (Pubitemid 35012462)
    • (2002) Nucleic Acids Research , vol.30 , Issue.17 , pp. 3894-3900
    • Ramensky, V.1    Bork, P.2    Sunyaev, S.3
  • 19
    • 0030739571 scopus 로고    scopus 로고
    • Homozygous mutations in the plasminogen gene of two unrelated girls with ligneous conjunctivitis
    • Schuster V, Mingers AM, Seidenspinner S, et al. Homozygous mutations in the plasminogen gene of two unrelated girls with ligneous conjunctivitis. Blood 1997; 90: 958-966. (Pubitemid 27314128)
    • (1997) Blood , vol.90 , Issue.3 , pp. 958-966
    • Schuster, V.1    Mingers, A.-M.2    Seidenspinner, S.3    Nussgens, Z.4    Pukrop, T.5    Kreth, H.W.6
  • 20
    • 42549133511 scopus 로고    scopus 로고
    • Systemic and topical fresh-frozen plasma treatment in a newborn with ligneous conjunctivitis
    • DOI 10.1097/ICO.0b013e318162a8e0, PII 0000322620080500000020
    • Gurlu VP, Demir M, Alimgil ML, et al. Systemic and topical fresh-frozen plasma treatment in a newborn with ligneous conjunctivitis. Cornea 2008; 27: 501-503. (Pubitemid 351591492)
    • (2008) Cornea , vol.27 , Issue.4 , pp. 501-503
    • Gurlu, V.P.1    Demir, M.2    Alimgil, M.L.3    Erda, S.4
  • 21
    • 0242286626 scopus 로고    scopus 로고
    • Treatment of Ligneous Conjunctivitis with Topical Plasmin and Topical Plasminogen
    • DOI 10.1097/00003226-200311000-00009
    • Heidemann DG, Williams GA, Hartzer M, et al. Treatment of ligneous conjunctivitis with topical plasmin and topical plasminogen. Cornea 2003; 22: 760-762. (Pubitemid 37337606)
    • (2003) Cornea , vol.22 , Issue.8 , pp. 760-762
    • Heidemann, D.G.1    Williams, G.A.2    Hartzer, M.3    Ohanian, A.4    Citron, M.E.5
  • 22
    • 3843051302 scopus 로고    scopus 로고
    • Prevention of ligneous conjunctivitis by topical and subconjunctival fresh frozen plasma
    • DOI 10.1016/j.ajo.2004.02.067, PII S0002939404002508
    • Tabbara KF. Prevention of ligneous conjunctivitis by topical and subconjunctival fresh frozen plasma. Am J Ophthalmol 2004; 138: 299-300. (Pubitemid 39037441)
    • (2004) American Journal of Ophthalmology , vol.138 , Issue.2 , pp. 299-300
    • Tabbara, K.F.1
  • 24
    • 34347335489 scopus 로고    scopus 로고
    • Hypoplasminogenemia with ligneous periodontitis: A failed local therapeutic approach
    • Kurtulus I, Gokbuget A, Efeoglu A, et al. Hypoplasminogenemia with ligneous periodontitis: a failed local therapeutic approach. J Periodontol 2007; 78: 1164-1175.
    • (2007) J Periodontol , vol.78 , pp. 1164-1175
    • Kurtulus, I.1    Gokbuget, A.2    Efeoglu, A.3
  • 25
    • 34249069182 scopus 로고    scopus 로고
    • A ligneous periodontitis and conjunctival lesions in a patient with plasminogen deficiency
    • Toker H, Toker MI, Goze F, et al. A ligneous periodontitis and conjunctival lesions in a patient with plasminogen deficiency. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2007; 103: e35-e38.
    • (2007) Oral Surg Oral Med Oral Pathol Oral Radiol Endod , vol.103
    • Toker, H.1    Toker, M.I.2    Goze, F.3
  • 27
    • 0033800313 scopus 로고    scopus 로고
    • Ligneous conjunctivitis in a girl with severe type I plasminogen deficiency
    • Kraft J, Lieb W, Zeitler P, et al. Ligneous conjunctivitis in a girl with severe type I plasminogen deficiency. Graefes Arch Clin Exp Ophthalmol 2000; 238: 797-800.
    • (2000) Graefes Arch Clin Exp Ophthalmol , vol.238 , pp. 797-800
    • Kraft, J.1    Lieb, W.2    Zeitler, P.3
  • 28
    • 33847268639 scopus 로고    scopus 로고
    • Ligneous conjunctivitis: A case report with multiorgan involvement
    • McCullough K, Nguyen H, Stechschulte D, et al. Ligneous conjunctivitis: a case report with multiorgan involvement. Histopathology 2007; 50: 511-513.
    • (2007) Histopathology , vol.50 , pp. 511-513
    • McCullough, K.1    Nguyen, H.2    Stechschulte, D.3
  • 29
    • 34848851290 scopus 로고    scopus 로고
    • Ligneous conjunctivitis: A clinicopathological, immunohistochemical, and genetic study including the treatment of two sisters with multiorgan involvement
    • Rodriguez-Ares MT, Abdulkader I, Blanco A, et al. Ligneous conjunctivitis: a clinicopathological, immunohistochemical, and genetic study including the treatment of two sisters with multiorgan involvement. Virchows Arch 2007; 451: 815-821.
    • (2007) Virchows Arch , vol.451 , pp. 815-821
    • Rodriguez-Ares, M.T.1    Abdulkader, I.2    Blanco, A.3
  • 30
    • 0037623679 scopus 로고    scopus 로고
    • Contraceptive pills induce an improvement in congenital hypoplasminogenemia in two unrelated patients with ligneous conjunctivitis
    • Sartori MT, Saggiorato G, Pellati D, et al. Contraceptive pills induce an improvement in congenital hypoplasminogenemia in two unrelated patients with ligneous conjunctivitis. Thromb Haemost 2003; 90: 86-91.
    • (2003) Thromb Haemost , vol.90 , pp. 86-91
    • Sartori, M.T.1    Saggiorato, G.2    Pellati, D.3
  • 31
    • 0033562581 scopus 로고    scopus 로고
    • Compound-heterozygous mutations in the plasminogen gene predispose to the development of ligneous conjunctivitis
    • Schuster V, Seidenspinner S, Zeitler P, et al. Compound-heterozygous mutations in the plasminogen gene predispose to the development of ligneous conjunctivitis. Blood 1999; 93: 3457-3466.
    • (1999) Blood , vol.93 , pp. 3457-3466
    • Schuster, V.1    Seidenspinner, S.2    Zeitler, P.3
  • 32
    • 0034974625 scopus 로고    scopus 로고
    • Homozygous and compound-heterozygous type I plasminogen deficiency is a common cause of ligneous conjunctivitis
    • Schuster V, Zeitler P, Seregard S, et al. Homozygous and compound-heterozygous type I plasminogen deficiency is a common cause of ligneous conjunctivitis. Thromb Haemost 2001; 85: 1004-1010.
    • (2001) Thromb Haemost , vol.85 , pp. 1004-1010
    • Schuster, V.1    Zeitler, P.2    Seregard, S.3
  • 33
    • 33845731811 scopus 로고    scopus 로고
    • Molecular characterization of an Italian patient with plasminogen deficiency and ligneous conjunctivitis
    • Siboni SM, Spreafico M, Menegatti M, et al. Molecular characterization of an Italian patient with plasminogen deficiency and ligneous conjunctivitis. Blood Coagul Fibrinolysis 2007; 18: 81-84.
    • (2007) Blood Coagul Fibrinolysis , vol.18 , pp. 81-84
    • Siboni, S.M.1    Spreafico, M.2    Menegatti, M.3
  • 34
    • 60249094899 scopus 로고    scopus 로고
    • Plasminogen deficiency as a rare cause of conjunctivitis and lymphadenopathy
    • Yohe SL, Reyes M, Johnson DA, et al. Plasminogen deficiency as a rare cause of conjunctivitis and lymphadenopathy. Am J Surg Pathol 2009; 33: 313-319.
    • (2009) Am J Surg Pathol , vol.33 , pp. 313-319
    • Yohe, S.L.1    Reyes, M.2    Johnson, D.A.3


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