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Volumn 14, Issue 1, 2010, Pages 149-151

Common mediterranean fever gene mutations in the Azeri Turkish population of Iran

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; COHORT ANALYSIS; FAMILIAL MEDITERRANEAN FEVER; FEVER; GENE FREQUENCY; GENE MUTATION; GENOTYPE; HUMAN; HUMAN EXPERIMENT; INFLAMMATION; IRAN; MAJOR CLINICAL STUDY; MUTATION RATE; NORMAL HUMAN; POLYMERASE CHAIN REACTION;

EID: 76949087855     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2009.0087     Document Type: Article
Times cited : (24)

References (26)
  • 1
    • 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. (1999) 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 64:949-962.
    • (1999) Am J Hum Genet , vol.64 , pp. 949-962
    • Aksentijevich, I.1    Torosyan, Y.2    Samuels, J.3
  • 2
    • 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, et al. (2000) The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant? Hum Mutat 15:385-386.
    • (2000) Hum Mutat , vol.15 , pp. 385-386
    • Ben-Chetrit, E.1    Lerer, I.2    Malamud, E.3
  • 3
    • 7344255810 scopus 로고    scopus 로고
    • Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF)
    • Bernot A, da Silva C, Petit JL, et al. (1998) Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF). Hum Mol Genet 7:1317-1325.
    • (1998) Hum Mol Genet , vol.7 , pp. 1317-1325
    • Bernot, A.1    Da Silva, C.2    Petit, J.L.3
  • 4
    • 0032190074 scopus 로고    scopus 로고
    • Diagnosis of familial Mediterranean fever by a molecular genetics method
    • Eisenberg S, Aksentijevich I, Deng Z, et al. (1998) Diagnosis of familial Mediterranean fever by a molecular genetics method. Ann Intern Med 129:539-542.
    • (1998) Ann Intern Med , vol.129 , pp. 539-542
    • Eisenberg, S.1    Aksentijevich, I.2    Deng, Z.3
  • 5
    • 33645101247 scopus 로고    scopus 로고
    • Familial Mediterranean fever in Arabs
    • El-Shanti H, Majeed HA, El-Khateeb M (2006) Familial Mediterranean fever in Arabs. Lancet 367:1016-1024.
    • (2006) Lancet , vol.367 , pp. 1016-1024
    • El-Shanti, H.1    Majeed, H.A.2    El-Khateeb, M.3
  • 6
    • 40749118014 scopus 로고    scopus 로고
    • Common MEFV mutation analysis in Iranian Azeri Turkish patients with familial Mediterranean fever
    • Esmaeili M, Bonyadi M, Rafeey M, et al. (2008) Common MEFV mutation analysis in Iranian Azeri Turkish patients with familial Mediterranean fever. Semin Arthritis Rheum 37: 334-338.
    • (2008) Semin Arthritis Rheum , vol.37 , pp. 334-338
    • Esmaeili, M.1    Bonyadi, M.2    Rafeey, M.3
  • 7
    • 38349115445 scopus 로고    scopus 로고
    • Familial Mediterranean fever in Crete: A genetic and structural biological approach in a population of intermediate risk
    • Fragouli E, Eliopoulos E, Petraki E, et al. (2008) Familial Mediterranean fever in Crete: a genetic and structural biological approach in a population of intermediate risk. Clin Genet 73:152-159.
    • (2008) Clin Genet , vol.73 , pp. 152-159
    • Fragouli, E.1    Eliopoulos, E.2    Petraki, E.3
  • 8
    • 0036224497 scopus 로고    scopus 로고
    • The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever
    • Infevers. An online database for autoinflammatory mutations. Available at. Accessed May 22, 2009
    • Gershoni-Baruch R, Brik R, Shinawi M, et al. (2002) The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever. Eur J Hum Genet 10:145-149. Infevers. An online database for autoinflammatory mutations. Available at http:==fmf.igh.cnrs.fr=ISSAID= infevers=Accessed May 22, 2009.
    • (2002) Eur J Hum Genet , vol.10 , pp. 145-149
    • Gershoni-Baruch, R.1    Brik, R.2    Shinawi, M.3
  • 9
    • 35549004467 scopus 로고    scopus 로고
    • Familial Mediterranean fever: Clinical, molecular and management advancements
    • Lidar M, Livneh A (2007) Familial Mediterranean fever: clinical, molecular and management advancements. Neth J Med 65: 318-324.
    • (2007) Neth J Med , vol.65 , pp. 318-324
    • Lidar, M.1    Livneh, A.2
  • 10
    • 0033008274 scopus 로고    scopus 로고
    • MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever
    • Livneh A, Langevitz P, Shinar Y, et al. (1999) MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever. Amyloid 6:1-6.
    • (1999) Amyloid , vol.6 , pp. 1-6
    • Livneh, A.1    Langevitz, P.2    Shinar, Y.3
  • 11
    • 33845922909 scopus 로고    scopus 로고
    • Familial Mediterranean fever in the Syrian population: Gene mutation frequencies, carrier rates and phenotype-genotype correlation
    • Mattit H, Joma M, Al-Cheikh S, et al. (2006) Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation. Eur J Med Genet 49:481-486.
    • (2006) Eur J Med Genet , vol.49 , pp. 481-486
    • Mattit, H.1    Joma, M.2    Al-Cheikh, S.3
  • 12
    • 0036461409 scopus 로고    scopus 로고
    • Familial Mediterranean fever: The potential for misdiagnosis of E148V using the E148Q usual RFLP detection method
    • Medlej-Hashim M, Salem N, Chouery E, et al. (2002) Familial Mediterranean fever: the potential for misdiagnosis of E148V using the E148Q usual RFLP detection method. Clin Genet 61:71-73.
    • (2002) Clin Genet , vol.61 , pp. 71-73
    • Medlej-Hashim, M.1    Salem, N.2    Chouery, E.3
  • 13
    • 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. (2005) Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations. Eur J Med Genet 48:412-420.
    • (2005) Eur J Med Genet , vol.48 , pp. 412-420
    • Medlej-Hashim, M.1    Serre, J.L.2    Corbani, S.3
  • 14
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dynes DD, Polesky F (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dynes, D.D.2    Polesky, F.3
  • 15
    • 33645359493 scopus 로고    scopus 로고
    • Familial Mediterranean fever
    • Onen F (2005) Familial Mediterranean fever. Rheumatol Int 26:489-496.
    • (2005) Rheumatol Int , vol.26 , pp. 489-496
    • Onen, F.1
  • 16
    • 54049125765 scopus 로고    scopus 로고
    • The population genetics of familial Mediterranean fever: A metaanalysis study
    • Papadopoulos VP, Giaglis S, Mitroulis I, et al. (2008) The population genetics of familial Mediterranean fever: a metaanalysis study. Ann Hum Genet 72:752-761.
    • (2008) Ann Hum Genet , vol.72 , pp. 752-761
    • Papadopoulos, V.P.1    Giaglis, S.2    Mitroulis, I.3
  • 17
    • 1642458146 scopus 로고    scopus 로고
    • Decreased prevalence of atopy in paediatric patients with familial Mediterranean fever
    • Sackesen C, Bakkaloglu A, Sekerel BE, et al. (2004) Decreased prevalence of atopy in paediatric patients with familial Mediterranean fever. Ann Rheum Dis 63:187-190.
    • (2004) Ann Rheum Dis , vol.63 , pp. 187-190
    • Sackesen, C.1    Bakkaloglu, A.2    Sekerel, B.E.3
  • 18
    • 52049116743 scopus 로고    scopus 로고
    • Familial Mediterranean fever in Armenian population
    • Sarkisian T, Ajrapetian H, Beglarian A, et al. (2008) Familial Mediterranean fever in Armenian population. Georgian Med News 156:105-111.
    • (2008) Georgian Med News , vol.156 , pp. 105-111
    • Sarkisian, T.1    Ajrapetian, H.2    Beglarian, A.3
  • 19
    • 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 (2005) Familial Mediterranean fever in the post-genomic era: how an ancient disease is providing new insights into inflammatory pathways. Curr Drug Targets Inflamm Allergy 4:67-76.
    • (2005) Curr Drug Targets Inflamm Allergy , vol.4 , pp. 67-76
    • Schaner, P.E.1    Gumucio, D.L.2
  • 20
    • 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. (2000) Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups. Eur J Hum Genet 8:307-310.
    • (2000) Eur J Hum Genet , vol.8 , pp. 307-310
    • Stoffman, N.1    Magal, N.2    Shohat, T.3
  • 21
    • 2142857251 scopus 로고    scopus 로고
    • The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever
    • Tchernitchko D, Legendre M, Cazeneuve C, et al. (2003) The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever. Hum Mutat 22:339-340.
    • (2003) Hum Mutat , vol.22 , pp. 339-340
    • Tchernitchko, D.1    Legendre, M.2    Cazeneuve, C.3
  • 22
    • 16944365196 scopus 로고    scopus 로고
    • A candidate gene for familial Mediterranean fever
    • The French FMF Consortium
    • The French FMF Consortium (1997) A candidate gene for familial Mediterranean fever. Nat Genet 17:25-31.
    • (1997) Nat Genet , vol.17 , pp. 25-31
  • 23
    • 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 (1997) Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 90:797-807.
    • (1997) Cell , vol.90 , pp. 797-807
  • 24
    • 17644365482 scopus 로고    scopus 로고
    • E148Q is a disease causing MEFV mutation: A phenotypic evaluation in patients with familial Mediterranean fever
    • Topaloglu R, Ozaltin F, Yilmaz E, et al. (2005) E148Q is a disease causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever. Ann Rheum Dis 64:750-752.
    • (2005) Ann Rheum Dis , vol.64 , pp. 750-752
    • Topaloglu, R.1    Ozaltin, F.2    Yilmaz, E.3
  • 25
    • 0034879132 scopus 로고    scopus 로고
    • The spectrum of Familial Mediterranean fever (FMF) mutations
    • Touitou I (2001) The spectrum of Familial Mediterranean fever (FMF) mutations. Eur J Hum Genet 9:473-483.
    • (2001) Eur J Hum Genet , vol.9 , pp. 473-483
    • Touitou, I.1
  • 26
    • 0034879079 scopus 로고    scopus 로고
    • Mutation frequency of familial Mediterranean fever and evidence for a high carrier rate in the Turkish population
    • Yilmaz E, Ozen S, Balci B, et al. (2001) Mutation frequency of familial Mediterranean fever and evidence for a high carrier rate in the Turkish population. Eur J Hum Genet 9:553-555.
    • (2001) Eur J Hum Genet , vol.9 , pp. 553-555
    • Yilmaz, E.1    Ozen, S.2    Balci, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.