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Volumn 73, Issue 2, 2008, Pages 152-159

Familial Mediterranean Fever in Crete: A genetic and structural biological approach in a population of 'intermediate risk'

Author keywords

Dimensional model (3D model); Familial mediterranean fever (FMF); MEFV; Mutational analysis; Phylogenetic tree; Pyrin; Three

Indexed keywords

CYTOSKELETON PROTEIN; INTERLEUKIN 1BETA CONVERTING ENZYME; MARENOSTRIN; UNCLASSIFIED DRUG;

EID: 38349115445     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00948.x     Document Type: Article
Times cited : (28)

References (54)
  • 1
    • 0014118417 scopus 로고
    • Familial Mediterranean fever. A survey of 470 cases and review of the literature
    • Sohar E, Gafni J, Pras M, Heller H. Familial Mediterranean fever. A survey of 470 cases and review of the literature. Am J Med 1967: 43: 227-253.
    • (1967) Am J Med , vol.43 , pp. 227-253
    • Sohar, E.1    Gafni, J.2    Pras, M.3    Heller, H.4
  • 2
    • 33645458522 scopus 로고    scopus 로고
    • Familial Mediterranean fever and the other autoinflammatory syndromes: evaluation of the patient with recurrent fever
    • Samuels J, Ozen S. Familial Mediterranean fever and the other autoinflammatory syndromes: evaluation of the patient with recurrent fever. Curr Opin Rheumatol 2006: 18: 108-117.
    • (2006) Curr Opin Rheumatol , vol.18 , pp. 108-117
    • Samuels, J.1    Ozen, S.2
  • 3
    • 0343963221 scopus 로고    scopus 로고
    • Clinical versus genetic diagnosis of familial Mediterranean fever
    • Grateau G, Pecheux C, Cazeneuve C et al. Clinical versus genetic diagnosis of familial Mediterranean fever. QJM 2000: 93: 223-229.
    • (2000) QJM , vol.93 , pp. 223-229
    • Grateau, G.1    Pecheux, C.2    Cazeneuve, C.3
  • 4
    • 0037216780 scopus 로고    scopus 로고
    • The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations
    • Hull KM, Shoham N, Chae J, Aksentijevich I, Kastner DL. The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations. Curr Opin Rheumatol 2003: 15: 61-69.
    • (2003) Curr Opin Rheumatol , vol.15 , pp. 61-69
    • Hull, K.M.1    Shoham, N.2    Chae, J.3    Aksentijevich, I.4    Kastner, D.L.5
  • 5
    • 16944365196 scopus 로고    scopus 로고
    • A candidate gene for familial Mediterranean fever
    • The French FMF Consortium
    • The French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet 1997: 17: 25-31.
    • (1997) Nat Genet , vol.17 , pp. 25-31
  • 6
    • 0030745449 scopus 로고    scopus 로고
    • Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever
    • The International FMF Consortium
    • The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 1997: 90: 797-807.
    • (1997) Cell , vol.90 , pp. 797-807
  • 7
    • 0035091156 scopus 로고    scopus 로고
    • Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states
    • Schaner P, Richards N, Wadhwa A et al. Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states. Nat Genet 2001: 27: 318-321.
    • (2001) Nat Genet , vol.27 , pp. 318-321
    • Schaner, P.1    Richards, N.2    Wadhwa, A.3
  • 8
    • 17844399024 scopus 로고    scopus 로고
    • Familial Mediterranean fever in the post-genomic era: how an ancient disease is providing new insights into inflammatory pathways
    • Schaner PE, Gumucio DL. Familial Mediterranean fever in the post-genomic era: how an ancient disease is providing new insights into inflammatory pathways. Curr Drug Targets Inflamm Allergy 2005: 4: 67-76.
    • (2005) Curr Drug Targets Inflamm Allergy , vol.4 , pp. 67-76
    • Schaner, P.E.1    Gumucio, D.L.2
  • 9
    • 0034520137 scopus 로고    scopus 로고
    • The PYRIN domain: a novel motif found in apoptosis and inflammation proteins
    • Bertin J, DiStefano PS. The PYRIN domain: a novel motif found in apoptosis and inflammation proteins. Cell Death Differ 2000: 7: 1273-1274.
    • (2000) Cell Death Differ , vol.7 , pp. 1273-1274
    • Bertin, J.1    DiStefano, P.S.2
  • 10
    • 0035916324 scopus 로고    scopus 로고
    • The pyrin domain: a possible member of the death domain-fold family implicated in apoptosis and inflammation
    • Martinon F, Hofmann K, Tschopp J. The pyrin domain: a possible member of the death domain-fold family implicated in apoptosis and inflammation. Curr Biol 2001: 11: R118-R120.
    • (2001) Curr Biol , vol.11
    • Martinon, F.1    Hofmann, K.2    Tschopp, J.3
  • 11
    • 33745631232 scopus 로고    scopus 로고
    • The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production
    • Chae JJ, Wood G, Masters SL et al. The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production. Proc Natl Acad Sci U S A 2006: 103: 9982-9987.
    • (2006) Proc Natl Acad Sci U S A , vol.103 , pp. 9982-9987
    • Chae, J.J.1    Wood, G.2    Masters, S.L.3
  • 12
    • 29344469557 scopus 로고    scopus 로고
    • Structure of the PRYSPRY-domain: implications for autoinflammatory diseases
    • Grutter C, Briand C, Capitani G et al. Structure of the PRYSPRY-domain: implications for autoinflammatory diseases. FEBS Lett 2006: 580: 99-106.
    • (2006) FEBS Lett , vol.580 , pp. 99-106
    • Grutter, C.1    Briand, C.2    Capitani, G.3
  • 14
    • 18244429610 scopus 로고    scopus 로고
    • Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population
    • Aksentijevich I, Torosyan Y, Samuels J et al. Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Am J Hum Genet 1999: 64: 949-962.
    • (1999) Am J Hum Genet , vol.64 , pp. 949-962
    • Aksentijevich, I.1    Torosyan, Y.2    Samuels, J.3
  • 15
    • 0036224497 scopus 로고    scopus 로고
    • The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever
    • Gershoni-Baruch R, Brik R, Shinawi M, Livneh A. The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever. Eur J Hum Genet 2002: 10: 145-159.
    • (2002) Eur J Hum Genet , vol.10 , pp. 145-159
    • Gershoni-Baruch, R.1    Brik, R.2    Shinawi, M.3    Livneh, A.4
  • 17
    • 0037405561 scopus 로고    scopus 로고
    • Familial Mediterranean fever associated pyrin mutations in Greece
    • Konstantopoulos K, Kanta A, Deltas K et al. Familial Mediterranean fever associated pyrin mutations in Greece. Ann Rheum Dis 2003: 62: 479-481.
    • (2003) Ann Rheum Dis , vol.62 , pp. 479-481
    • Konstantopoulos, K.1    Kanta, A.2    Deltas, K.3
  • 18
    • 1342324955 scopus 로고    scopus 로고
    • Familial Mediterranean fever seems to be not uncommon in Greece
    • Konstantopoulos K, Kanta A. Familial Mediterranean fever seems to be not uncommon in Greece. Eur J Hum Genet 2004: 12: 85-86.
    • (2004) Eur J Hum Genet , vol.12 , pp. 85-86
    • Konstantopoulos, K.1    Kanta, A.2
  • 19
    • 34248351562 scopus 로고    scopus 로고
    • MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever
    • Giaglis S, Papadopoulos V, Kambas K et al. MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever. Clin Genet 2007: 71: 458-467.
    • (2007) Clin Genet , vol.71 , pp. 458-467
    • Giaglis, S.1    Papadopoulos, V.2    Kambas, K.3
  • 20
    • 0036016985 scopus 로고    scopus 로고
    • Familial Mediterranean fever (FMF) mutations occur frequently in the Greek- Cypriot population of Cyprus
    • Deltas K, Mean R, Rossou E et al. Familial Mediterranean fever (FMF) mutations occur frequently in the Greek- Cypriot population of Cyprus. Genet Test 2002: 6: 15-21.
    • (2002) Genet Test , vol.6 , pp. 15-21
    • Deltas, K.1    Mean, R.2    Rossou, E.3
  • 21
    • 24144453542 scopus 로고    scopus 로고
    • Multiplex molecular diagnosis of MEFV mutations in patients with familial Mediterranean fever by LightCycler real-time PCR
    • Rossou E, Kouvatsi A, Aslanidis C, Deltas C. Multiplex molecular diagnosis of MEFV mutations in patients with familial Mediterranean fever by LightCycler real-time PCR. Clin Chem 2005: 51: 1725-1727.
    • (2005) Clin Chem , vol.51 , pp. 1725-1727
    • Rossou, E.1    Kouvatsi, A.2    Aslanidis, C.3    Deltas, C.4
  • 22
    • 0037262046 scopus 로고    scopus 로고
    • Familial Mediterranean fever is no longer a rare disease in Italy
    • La Regina M, Nucera G, Diaco M et al. Familial Mediterranean fever is no longer a rare disease in Italy. Eur J Hum Genet 2003: 11: 50-56.
    • (2003) Eur J Hum Genet , vol.11 , pp. 50-56
    • La Regina, M.1    Nucera, G.2    Diaco, M.3
  • 23
    • 2342558725 scopus 로고    scopus 로고
    • The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination 'hotspot' at the MEFV locus
    • Aldea A, Calafell F, Arostegui JI et al. The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination 'hotspot' at the MEFV locus. Hum Mutat 2004: 23: 399-406.
    • (2004) Hum Mutat , vol.23 , pp. 399-406
    • Aldea, A.1    Calafell, F.2    Arostegui, J.I.3
  • 24
    • 23244462579 scopus 로고    scopus 로고
    • A Japanese case of familial Mediterranean fever with homozygosity for the pyrin E148Q mutation
    • Suzuki T, Nakamura A, Yazaki M, Ikeda S. A Japanese case of familial Mediterranean fever with homozygosity for the pyrin E148Q mutation. Intern Med 2005: 44: 765-766.
    • (2005) Intern Med , vol.44 , pp. 765-766
    • Suzuki, T.1    Nakamura, A.2    Yazaki, M.3    Ikeda, S.4
  • 25
    • 0034879132 scopus 로고    scopus 로고
    • The spectrum of Familial Mediterranean Fever (FMF) mutations
    • Touitou I. The spectrum of Familial Mediterranean Fever (FMF) mutations. Eur J Hum Genet 2001: 9: 473-483.
    • (2001) Eur J Hum Genet , vol.9 , pp. 473-483
    • Touitou, I.1
  • 26
    • 11144354882 scopus 로고    scopus 로고
    • Non-isotopic RNase cleavage assay for mutation detection in MEFV, the gene responsible for familial Mediterranean fever, in a cohort of Greek patients
    • Ritis K, Giaglis S, Spathari A et al. Non-isotopic RNase cleavage assay for mutation detection in MEFV, the gene responsible for familial Mediterranean fever, in a cohort of Greek patients. Ann Rheum Dis 2004: 63: 438-443.
    • (2004) Ann Rheum Dis , vol.63 , pp. 438-443
    • Ritis, K.1    Giaglis, S.2    Spathari, A.3
  • 27
    • 0034574603 scopus 로고    scopus 로고
    • Use of population isolates for mapping complex traits
    • Peltonen L, Palotie A, Lange K. Use of population isolates for mapping complex traits. Nat Rev Genet 2000: 1: 182-190.
    • (2000) Nat Rev Genet , vol.1 , pp. 182-190
    • Peltonen, L.1    Palotie, A.2    Lange, K.3
  • 28
    • 0031879058 scopus 로고    scopus 로고
    • The Cretan type of non-deletional hereditary persistence of fetal hemoglobin [A gamma-158C/T] results from two independent gene conversion events
    • Patrinos GP, Kollia P, Loutradi-Anagnostou A, Louko-poulos D, Papadakis MN. The Cretan type of non-deletional hereditary persistence of fetal hemoglobin [A gamma-158C/T] results from two independent gene conversion events. Hum Genet 1998: 102: 629-634.
    • (1998) Hum Genet , vol.102 , pp. 629-634
    • Patrinos, G.P.1    Kollia, P.2    Loutradi-Anagnostou, A.3    Louko-poulos, D.4    Papadakis, M.N.5
  • 29
    • 0033035308 scopus 로고    scopus 로고
    • The origin of Cretan populations as determined by characterization of HLA alleles
    • Arnaiz-Villena A, Iliakis P, Gonzalez-Hevilla M et al. The origin of Cretan populations as determined by characterization of HLA alleles. Tissue Antigens 1999: 53: 213-226.
    • (1999) Tissue Antigens , vol.53 , pp. 213-226
    • Arnaiz-Villena, A.1    Iliakis, P.2    Gonzalez-Hevilla, M.3
  • 30
    • 27744481752 scopus 로고    scopus 로고
    • Distribution of HIV/AIDS protective SDF1, CCR5 and CCR2 gene variants within Cretan population
    • Apostolakis S, Baritaki S, Krambovitis E, Spandidos DA. Distribution of HIV/AIDS protective SDF1, CCR5 and CCR2 gene variants within Cretan population. J Clin Virol 2005: 34: 310-314.
    • (2005) J Clin Virol , vol.34 , pp. 310-314
    • Apostolakis, S.1    Baritaki, S.2    Krambovitis, E.3    Spandidos, D.A.4
  • 32
    • 0034911096 scopus 로고    scopus 로고
    • Increased incidence of sporadic Creutzfeldt-Jakob disease on the island of Crete associated with a high rate of PRNP 129-methionine homozygosity in the local population
    • Plaitakis A, Viskadouraki AK, Tzagournissakis M et al. Increased incidence of sporadic Creutzfeldt-Jakob disease on the island of Crete associated with a high rate of PRNP 129-methionine homozygosity in the local population. Ann Neurol 2001: 50: 227-233.
    • (2001) Ann Neurol , vol.50 , pp. 227-233
    • Plaitakis, A.1    Viskadouraki, A.K.2    Tzagournissakis, M.3
  • 33
    • 0030783102 scopus 로고    scopus 로고
    • Criteria for the diagnosis of familial Mediterranean fever
    • Livneh A, Langevitz P, Zemer D et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 1997: 40: 1879-1885.
    • (1997) Arthritis Rheum , vol.40 , pp. 1879-1885
    • Livneh, A.1    Langevitz, P.2    Zemer, D.3
  • 34
    • 0027136282 scopus 로고
    • Comparative protein modelling by satisfaction of spatial restraints
    • Sali A, Blundell TL. Comparative protein modelling by satisfaction of spatial restraints. J Mol Biol 1993: 234: 779-815.
    • (1993) J Mol Biol , vol.234 , pp. 779-815
    • Sali, A.1    Blundell, T.L.2
  • 36
    • 0038526303 scopus 로고    scopus 로고
    • ZDOCK: an initial-stage protein-docking algorithm
    • Chen R, Li L, Weng Z. ZDOCK: an initial-stage protein-docking algorithm. Proteins 2003: 52: 80-87.
    • (2003) Proteins , vol.52 , pp. 80-87
    • Chen, R.1    Li, L.2    Weng, Z.3
  • 38
    • 31744440566 scopus 로고    scopus 로고
    • QUANTA: a molecular graphics program licensed to molecular simulations
    • San Diego, CA: Accelrys Software Inc
    • QUANTA: a molecular graphics program licensed to molecular simulations. San Diego, CA: Accelrys Software Inc., 1998.
    • (1998)
  • 39
    • 23444451748 scopus 로고    scopus 로고
    • Evaluation of disease severity in familial Mediterranean fever
    • Mor A, Shinar Y, Zaks N et al. Evaluation of disease severity in familial Mediterranean fever. Semin Arthritis Rheum 2005: 35: 57-64.
    • (2005) Semin Arthritis Rheum , vol.35 , pp. 57-64
    • Mor, A.1    Shinar, Y.2    Zaks, N.3
  • 40
    • 33645101247 scopus 로고    scopus 로고
    • Familial Mediterranean fever in Arabs
    • El-Shanti H, Majeed HA, El-Khateeb M. Familial Mediterranean fever in Arabs. Lancet 2006: 367: 1016-1024.
    • (2006) Lancet , vol.367 , pp. 1016-1024
    • El-Shanti, H.1    Majeed, H.A.2    El-Khateeb, M.3
  • 41
    • 0035882523 scopus 로고    scopus 로고
    • Common MEFV mutations among Jewish ethnic groups in Israel: high frequency of carrier and phenotype III states and absence of a perceptible biological advantage for the carrier state
    • Kogan A, Shinar Y, Lidar M et al. Common MEFV mutations among Jewish ethnic groups in Israel: high frequency of carrier and phenotype III states and absence of a perceptible biological advantage for the carrier state. Am J Med Genet 2001: 102: 272-276.
    • (2001) Am J Med Genet , vol.102 , pp. 272-276
    • Kogan, A.1    Shinar, Y.2    Lidar, M.3
  • 42
    • 0034091243 scopus 로고    scopus 로고
    • Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups
    • Stoffman N, Magal N, Shohat T et al. Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups. Eur J Hum Genet 2000: 8: 307-310.
    • (2000) Eur J Hum Genet , vol.8 , pp. 307-310
    • Stoffman, N.1    Magal, N.2    Shohat, T.3
  • 44
    • 29544451020 scopus 로고    scopus 로고
    • Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations
    • Medlej-Hashim M, Serre JL, Corbani S et al. Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations. Eur J Med Genet 2005: 48: 412-420.
    • (2005) Eur J Med Genet , vol.48 , pp. 412-420
    • Medlej-Hashim, M.1    Serre, J.L.2    Corbani, S.3
  • 45
    • 33744762729 scopus 로고    scopus 로고
    • Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations
    • Lachmann HJ, Sengul B, Yavuzsen TU et al. Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations. Rheumatology (Oxford) 2006: 45: 746-750.
    • (2006) Rheumatology (Oxford) , vol.45 , pp. 746-750
    • Lachmann, H.J.1    Sengul, B.2    Yavuzsen, T.U.3
  • 46
    • 1842866229 scopus 로고    scopus 로고
    • Clinical and genetic aspects of the hereditary periodic fever syndromes
    • Grateau G. Clinical and genetic aspects of the hereditary periodic fever syndromes. Rheumatology (Oxford) 2004: 43: 410-415.
    • (2004) Rheumatology (Oxford) , vol.43 , pp. 410-415
    • Grateau, G.1
  • 47
    • 0036656524 scopus 로고    scopus 로고
    • Is there a heterozygote advantage for familial Mediterranean fever carriers against tuberculosis infections: speculations remain?
    • Ozen S, Balci B, Ozkara S et al. Is there a heterozygote advantage for familial Mediterranean fever carriers against tuberculosis infections: speculations remain? Clin Exp Rheumatol 2002: 20: S57-S58.
    • (2002) Clin Exp Rheumatol , vol.20
    • Ozen, S.1    Balci, B.2    Ozkara, S.3
  • 48
    • 0025780881 scopus 로고
    • Tuberculosis in Israel: a 10-year survey of an immigrant society
    • Dolberg OT, Alkan M, Schlaeffer F. Tuberculosis in Israel: a 10-year survey of an immigrant society. Isr J Med Sci 1991: 27: 386-389.
    • (1991) Isr J Med Sci , vol.27 , pp. 386-389
    • Dolberg, O.T.1    Alkan, M.2    Schlaeffer, F.3
  • 49
    • 0141446238 scopus 로고    scopus 로고
    • Familial Mediterranean fever: is low mortality from tuberculosis a specific advantage for MEFV mutations carriers? Mortality from tuberculosis among Muslims, Jewish, French, Italian and Maltese patients in Tunis (Tunisia) in the first half of the 20th century
    • Cattan D. Familial Mediterranean fever: is low mortality from tuberculosis a specific advantage for MEFV mutations carriers? Mortality from tuberculosis among Muslims, Jewish, French, Italian and Maltese patients in Tunis (Tunisia) in the first half of the 20th century. Clin Exp Rheumatol 2003: 21: S53-S4.
    • (2003) Clin Exp Rheumatol , vol.21
    • Cattan, D.1
  • 50
    • 17844403541 scopus 로고    scopus 로고
    • MEFV mutation carriers and diseases other than familial Mediterranean fever: proved and non-proved associations; putative biological advantage
    • Cattan D. MEFV mutation carriers and diseases other than familial Mediterranean fever: proved and non-proved associations; putative biological advantage. Curr Drug Targets Inflamm Allergy 2005: 4: 105-112.
    • (2005) Curr Drug Targets Inflamm Allergy , vol.4 , pp. 105-112
    • Cattan, D.1
  • 51
    • 0022570984 scopus 로고
    • Colchicine in the prevention and treatment of the amyloidosis of familial Mediterranean fever
    • Zemer D, Pras M, Sohar E, Modan M, Cabili S, Gafni J. Colchicine in the prevention and treatment of the amyloidosis of familial Mediterranean fever. N Engl J Med 1986: 314: 1001-1005.
    • (1986) N Engl J Med , vol.314 , pp. 1001-1005
    • Zemer, D.1    Pras, M.2    Sohar, E.3    Modan, M.4    Cabili, S.5    Gafni, J.6
  • 52
    • 0033910042 scopus 로고    scopus 로고
    • Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever
    • Shinar Y, Livneh A, Langevitz P et al. Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever. J Rheumatol 2000: 27: 1703-1707.
    • (2000) J Rheumatol , vol.27 , pp. 1703-1707
    • Shinar, Y.1    Livneh, A.2    Langevitz, P.3
  • 53
    • 1542376020 scopus 로고    scopus 로고
    • Bilineal transmission of Parkinson disease on Crete suggests a complex inheritance
    • Spanaki C, Plaitakis A. Bilineal transmission of Parkinson disease on Crete suggests a complex inheritance. Neurology 2004: 62: 815-817.
    • (2004) Neurology , vol.62 , pp. 815-817
    • Spanaki, C.1    Plaitakis, A.2
  • 54
    • 0003845223 scopus 로고    scopus 로고
    • The PyMOL molecular graphics system
    • San Carlos, CA: DeLano Scientific LLC, from
    • DeLano WL. 'The PyMOL molecular graphics system'. San Carlos, CA: DeLano Scientific LLC, 2007, from http://www.pymol.org
    • (2007)
    • DeLano, W.L.1


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