메뉴 건너뛰기




Volumn 67, Issue 4, 2010, Pages 202-207

Analysis of common MEFV mutations in Egyptian patients with familial Mediterranean fever: Molecular characterisation of the disease

Author keywords

Familial mediterranean fever; Frequency; MEFV gene; Mutation

Indexed keywords

AMINO ACID; PROTEIN MEFV; UNCLASSIFIED DRUG;

EID: 79551527305     PISSN: 09674845     EISSN: None     Source Type: Journal    
DOI: 10.1080/09674845.2010.11730320     Document Type: Article
Times cited : (8)

References (42)
  • 2
    • 0032574208 scopus 로고    scopus 로고
    • Familial Mediterranean fever
    • Ben-Chetrit E, Levy M. Familial Mediterranean fever. Lancet 1998; 351: 659-64.
    • (1998) Lancet , vol.351 , pp. 659-664
    • Ben-Chetrit, E.1    Levy, M.2
  • 3
    • 70349774428 scopus 로고    scopus 로고
    • Familial Mediterranean fever in the world
    • Ben-Chetrit E, Touitou I. Familial Mediterranean fever in the world. Arthritis Rheum 2009; 61: 1447-53.
    • (2009) Arthritis Rheum , vol.61 , pp. 1447-1453
    • Ben-Chetrit, E.1    Touitou, I.2
  • 4
    • 0042347992 scopus 로고    scopus 로고
    • Familial mediterranean fever: Revisiting an ancient disease
    • DOI 10.1007/s00431-003-1223-x
    • Ozen S. Familial Mediterranean fever: revisiting an ancient disease. Eur J Pediatr 2003; 162: 449-54. (Pubitemid 36904264)
    • (2003) European Journal of Pediatrics , vol.162 , Issue.7-8 , pp. 449-454
    • Ozen, S.1
  • 5
    • 16944365196 scopus 로고    scopus 로고
    • A candidate gene for familial Mediterranean fever
    • French FMF Consortium
    • 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
  • 8
    • 0347994983 scopus 로고    scopus 로고
    • Abdominal and Digestive System Associations of Familial Mediterranean Fever
    • DOI 10.1111/j.1572-0241.2003.08784.x
    • Mor A, Gal R, Livneh A. Abdominal and digestive system associations of familial Mediterranean fever. Am J Gastroenterol 2003; 98: 2594-604. (Pubitemid 38020095)
    • (2003) American Journal of Gastroenterology , vol.98 , Issue.12 , pp. 2594-2604
    • Mor, A.1    Gal, R.2    Livneh, A.3
  • 9
    • 4143125654 scopus 로고    scopus 로고
    • Infevers: An evolving mutation database for auto-inflammatory syndromes
    • Touitou I, Lesage S, McDermott M et al. Infevers: an evolving mutation database for auto-inflammatory syndromes. Hum Mutat 2004; 24: 194-8.
    • (2004) Hum Mutat , vol.24 , pp. 194-198
    • Touitou, I.1    Lesage, S.2    McDermott, M.3
  • 12
    • 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
    • DOI 10.1002/ajmg.1438
    • 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: 272-6. (Pubitemid 32730278)
    • (2001) American Journal of Medical Genetics , vol.102 , Issue.3 , pp. 272-276
    • Kogan, A.1    Shinar, Y.2    Lidar, M.3    Revivo, A.4    Langevitz, P.5    Padeh, S.6    Pras, M.7    Livneh, A.8
  • 14
    • 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: 50-6.
    • (2003) Eur J Hum Genet , vol.11 , pp. 50-56
    • La Regina, M.1    Nucera, G.2    Diaco, M.3
  • 15
    • 0042072901 scopus 로고    scopus 로고
    • Familial Mediterranean fever among patients from Karabakh and the diagnostic value of MEFV gene analysis in all classically affected populations
    • Cazeneuve C, Hovannesyan Z, Geneviève D et al. Familial Mediterranean fever among patients from Karabakh and the diagnostic value of MEFV gene analysis in all classically affected populations. Arthritis Rheum 2003; 48: 2324-31.
    • (2003) Arthritis Rheum , vol.48 , pp. 2324-2331
    • Cazeneuve, C.1    Hovannesyan, Z.2    Geneviève, D.3
  • 16
    • 77955549677 scopus 로고    scopus 로고
    • MEFV mutations in Egyptian patients suffering from familial Mediterranean fever: Analysis of 12 gene mutations
    • doi: 10.1007/s00296-009-1140-z
    • El-Garf A, Salah S, Iskander I, Salah H, Amin SN. MEFV mutations in Egyptian patients suffering from familial Mediterranean fever: analysis of 12 gene mutations. Rheumatol Int 2009 (doi: 10.1007/s00296-009-1140-z).
    • (2009) Rheumatol Int
    • El-Garf, A.1    Salah, S.2    Iskander, I.3    Salah, H.4    Amin, S.N.5
  • 17
    • 65249124619 scopus 로고    scopus 로고
    • Mutational analysis of the MEFV gene in Egyptian patients with familial Mediterranean fever
    • Öztürk A, Elbosky E, Elsayed SM, Alhodhod M, Akar N. Mutational analysis of the MEFV gene in Egyptian patients with familial Mediterranean fever. Turk J Med Sci 2009; 39: 229-34.
    • (2009) Turk J Med Sci , vol.39 , pp. 229-234
    • Öztürk, A.1    Elbosky, E.2    Elsayed, S.M.3    Alhodhod, M.4    Akar, N.5
  • 20
    • 0035146714 scopus 로고    scopus 로고
    • Familial Mediterranean fever in Lebanon: Mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations
    • Mansour I, Delague V, Cazeneuve C et al. Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations. Eur J Hum Genet 2001; 9: 51-5.
    • (2001) Eur J Hum Genet , vol.9 , pp. 51-55
    • Mansour, I.1    Delague, V.2    Cazeneuve, C.3
  • 22
    • 0034879132 scopus 로고    scopus 로고
    • The spectrum of Familial Mediterranean Fever (FMF) mutations
    • DOI 10.1038/sj.ejhg.5200658
    • Touitou I. The spectrum of familial Mediterranean fever (FMF) mutations. Eur J Hum Genet 2001; 9: 473-83. (Pubitemid 32750487)
    • (2001) European Journal of Human Genetics , vol.9 , Issue.7 , pp. 473-483
    • Touitou, I.1
  • 23
    • 19544380739 scopus 로고    scopus 로고
    • The spectrum of familial Mediterranean fever gene mutations in Arabs: Report of a large series
    • Majeed HA, El-Khateeb M, El-Shanti H, Abu Rabaiha Z. The spectrum of familial Mediterranean fever gene mutations in Arabs: report of a large series. Semin Arthritis Rheum 2005; 34: 813-8.
    • (2005) Semin Arthritis Rheum , vol.34 , pp. 813-818
    • Majeed, H.A.1    El-Khateeb, M.2    El-Shanti, H.3    Abu Rabaiha, Z.4
  • 24
    • 0033362158 scopus 로고    scopus 로고
    • MEFV gene analysis in Armenian patients with familial Mediterranean fever: Diagnostic value and unfavorable renal prognosis of the M694V homozygous: genotype-genetic and therapeutic implications
    • Cazeneuve C, Sarkisian T, Pêcheux C et al. MEFV gene analysis in Armenian patients with familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous: genotype-genetic and therapeutic implications. Am J Hum Genet 1999; 65: 88-97.
    • (1999) Am J Hum Genet , vol.65 , pp. 88-97
    • Cazeneuve, C.1    Sarkisian, T.2    Pêcheux, C.3
  • 25
    • 6744260791 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in a large group of Turkish patients with familial Mediterranean fever: Evidence for mutation-independent amyloidosis
    • Yalcinkaya F, Cakar N, Misirhoglu M et al. Genotype-phenotype correlation in a large group of Turkish patients with familial Mediterranean fever: evidence for mutation-independent amyloidosis. Rheumatology 2000; 39: 67-72.
    • (2000) Rheumatology , vol.39 , pp. 67-72
    • Yalcinkaya, F.1    Cakar, N.2    Misirhoglu, M.3
  • 26
    • 0031814513 scopus 로고    scopus 로고
    • Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations and a survey of 100 American referrals to the National Institutes of Health
    • Samuels J, Aksentijevich I, Torosyan Y et al. Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations and a survey of 100 American referrals to the National Institutes of Health. Medicine 1998; 77: 268-97.
    • (1998) Medicine , vol.77 , pp. 268-297
    • Samuels, J.1    Aksentijevich, I.2    Torosyan, Y.3
  • 27
    • 0037228468 scopus 로고    scopus 로고
    • Clinical and diagnostic value of genetic testing in 216 Israeli children with familial Mediterranean fever
    • Padeh S, Shinar Y, Pras E et al. Clinical and diagnostic value of genetic testing in 216 Israeli children with familial Mediterranean fever. J Rheumatol 2003; 30: 185-90.
    • (2003) J Rheumatol , vol.30 , pp. 185-190
    • Padeh, S.1    Shinar, Y.2    Pras, E.3
  • 28
    • 21344459060 scopus 로고    scopus 로고
    • Genetic screening of familial Mediterranean fever mutations in the Palestinian population
    • Ayesh SK, Nassar SM, Al-Sharef WA, Abu-Libdeh BY, Darwish HM. Genetic screening of familial Mediterranean fever mutations in the Palestinian population. Saudi Med J 2005; 26: 732-7.
    • (2005) Saudi Med J , vol.26 , pp. 732-737
    • Ayesh, S.K.1    Nassar, S.M.2    Al-Sharef, W.A.3    Abu-Libdeh, B.Y.4    Darwish, H.M.5
  • 29
    • 0033630556 scopus 로고    scopus 로고
    • MEFV mutations in Turkish patients suffering from familial Mediterranean fever
    • Akar N, Misiroglu M, Yalcinkaya F et al. MEFV mutations in Turkish patients suffering from familial Mediterranean fever. Hum Mutat 2000; 15: 118-9.
    • (2000) Hum Mutat , vol.15 , pp. 118-119
    • Akar, N.1    Misiroglu, M.2    Yalcinkaya, F.3
  • 30
    • 77949272245 scopus 로고    scopus 로고
    • MEFV mutations in patients with familial Mediterranean fever from the Aegean region of Turkey
    • Akin H, Onay H, Turker E, Cogulu O, Ozkinay F. MEFV mutations in patients with familial Mediterranean fever from the Aegean region of Turkey. Mol Biol Rep 2010; 37: 93-8.
    • (2010) Mol Biol Rep , vol.37 , pp. 93-98
    • Akin, H.1    Onay, H.2    Turker, E.3    Cogulu, O.4    Ozkinay, F.5
  • 31
    • 0343674694 scopus 로고    scopus 로고
    • Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever
    • Dodé C, Pêcheux C, Cazeneuve C et al. Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever. Am J Med Genet 2000; 92: 241-6.
    • (2000) Am J Med Genet , vol.92 , pp. 241-246
    • Dodé, C.1    Pêcheux, C.2    Cazeneuve, C.3
  • 32
    • 48249110999 scopus 로고    scopus 로고
    • MEFV gene mutation spectrum among Lebanese patients referred for familial Mediterranean fever work-up: Experience of a major tertiary care center
    • Sabbagh AS, Ghasham M, Abdel Khalek R et al. MEFV gene mutation spectrum among Lebanese patients referred for familial Mediterranean fever work-up: experience of a major tertiary care center. Mol Biol Rep 2008; 35: 447-51.
    • (2008) Mol Biol Rep , vol.35 , pp. 447-451
    • Sabbagh, A.S.1    Ghasham, M.2    Abdel Khalek, R.3
  • 33
    • 77949263088 scopus 로고    scopus 로고
    • Familial Mediterranean fever in Syrian patients: MEFV gene mutations and genotype-phenotype correlation
    • Jarjour RA. Familial Mediterranean fever in Syrian patients: MEFV gene mutations and genotype-phenotype correlation. Mol Biol Rep 2010; 37: 1-5.
    • (2010) Mol Biol Rep , vol.37 , pp. 1-5
    • Jarjour, R.A.1
  • 34
    • 50649111181 scopus 로고    scopus 로고
    • Analysis of familial Mediterranean fever gene mutations in 202 patients with familial Mediterranean fever
    • Solak M, Yildiz H, Koken R et al. Analysis of familial Mediterranean fever gene mutations in 202 patients with familial Mediterranean fever. Genet Test 2008; 12: 341-4.
    • (2008) Genet Test , vol.12 , pp. 341-344
    • Solak, M.1    Yildiz, H.2    Koken, R.3
  • 35
    • 0032929738 scopus 로고    scopus 로고
    • Phenotype-genotype correlation in familial Mediterranean fever: Evidence for an association between Met694Val and amyloidosis
    • Shohat M, Magal N, Shohat T et al. Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis. Eur J Hum Genet 1999; 7: 287-92.
    • (1999) Eur J Hum Genet , vol.7 , pp. 287-292
    • Shohat, M.1    Magal, N.2    Shohat, T.3
  • 36
    • 13144307083 scopus 로고    scopus 로고
    • Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF)
    • Dewalle M, Domingo C, Rozenbaum M et al. Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF). Eur J Hum Genet 1998; 6: 95-7.
    • (1998) Eur J Hum Genet , vol.6 , pp. 95-97
    • Dewalle, M.1    Domingo, C.2    Rozenbaum, M.3
  • 38
    • 33644562470 scopus 로고    scopus 로고
    • FMF: Past, present and future
    • Pras M. FMF: past, present and future. Clin Exp Rheum 2002; 20: S1-S66.
    • (2002) Clin Exp Rheum , vol.20
    • Pras, M.1
  • 39
    • 0034164577 scopus 로고    scopus 로고
    • The E148Q mutation in the MEFV gene: Is it a disease-causing mutation or a sequence variant?
    • Ben-Chetrit E, Lerer I, Malamud E, Domingo C, Abeliovich D. The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant? Hum Mutat 2000; 15: 385-6.
    • (2000) Hum Mutat , vol.15 , pp. 385-386
    • Ben-Chetrit, E.1    Lerer, I.2    Malamud, E.3    Domingo, C.4    Abeliovich, D.5
  • 40
    • 0034186466 scopus 로고    scopus 로고
    • Familial Mediterranean fever: Effects of genotype and ethnicity on inflammatory attacks and amyloidosis
    • Mimouni A, Magal N, Stoffman N et al. Familial Mediterranean fever: effects of genotype and ethnicity on inflammatory attacks and amyloidosis. Pediatrics 2000; 105: E70.
    • (2000) Pediatrics , vol.105
    • Mimouni, A.1    Magal, N.2    Stoffman, N.3
  • 41
    • 0034031649 scopus 로고    scopus 로고
    • The genetic basis of autosomal-dominant familial Mediterranean fever
    • Booth DR, Gilmore JD, Lachmann HJ, Pepys MB, Hawkins PN. The genetic basis of autosomal-dominant familial Mediterranean fever. QJM 2000; 93: 217-21.
    • (2000) QJM , vol.93 , pp. 217-221
    • Booth, D.R.1    Gilmore, J.D.2    Lachmann, H.J.3    Pepys, M.B.4    Hawkins, P.N.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.