메뉴 건너뛰기




Volumn 511, Issue 2, 2012, Pages 371-374

Prevalence of known mutations and a novel missense mutation (M694K) in the MEFV gene in a population from the Eastern Anatolia Region of Turkey

Author keywords

Familial Mediterranean fever (FMF); MEFV gene; Mutation; Pyrin

Indexed keywords

DNA FRAGMENT; GENOMIC DNA;

EID: 84868211852     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.09.073     Document Type: Article
Times cited : (13)

References (28)
  • 1
    • 77949272245 scopus 로고    scopus 로고
    • MEFV mutations in patients with familial Mediterranean fever from the Aegean region of Turkey
    • Akin H., et al. MEFV mutations in patients with familial Mediterranean fever from the Aegean region of Turkey. Mol. Biol. Rep. 2010, 37:93-98.
    • (2010) Mol. Biol. Rep. , vol.37 , pp. 93-98
    • Akin, H.1
  • 2
    • 84155186412 scopus 로고    scopus 로고
    • Homozygous M694V as a risk factor for amyloidosis in Turkish FMF patients
    • Akpolat T., et al. Homozygous M694V as a risk factor for amyloidosis in Turkish FMF patients. Gene 2012, 492:285-289.
    • (2012) Gene , vol.492 , pp. 285-289
    • Akpolat, T.1
  • 3
    • 0030745449 scopus 로고    scopus 로고
    • The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever
    • Aksentijevich I., et al. 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
    • Aksentijevich, I.1
  • 4
    • 0032574208 scopus 로고    scopus 로고
    • Familial Mediterranean fever
    • Ben-Chetrit E., Levy M. Familial Mediterranean fever. Lancet 1998, 351:659-664.
    • (1998) Lancet , vol.351 , pp. 659-664
    • Ben-Chetrit, E.1    Levy, M.2
  • 5
    • 81455158400 scopus 로고    scopus 로고
    • The relative contribution of environmental and genetic factors to phenotypic variation in familial Mediterranean fever (FMF)
    • Ben-Zvi I., et al. The relative contribution of environmental and genetic factors to phenotypic variation in familial Mediterranean fever (FMF). Gene 2012, 491:260-263.
    • (2012) Gene , vol.491 , pp. 260-263
    • Ben-Zvi, I.1
  • 6
    • 16944365196 scopus 로고    scopus 로고
    • A candidate gene for familial Mediterranean fever
    • Bernot A., et al. A candidate gene for familial Mediterranean fever. Nat. Genet. 1997, 17:25-31.
    • (1997) Nat. Genet. , vol.17 , pp. 25-31
    • Bernot, A.1
  • 7
    • 0034031649 scopus 로고    scopus 로고
    • The genetic basis of autosomal dominant familial Mediterranean fever Q
    • Booth D.R., et al. The genetic basis of autosomal dominant familial Mediterranean fever Q. J. Med. 2000, 93:217-221.
    • (2000) J. Med. , vol.93 , pp. 217-221
    • Booth, D.R.1
  • 8
    • 43249095726 scopus 로고    scopus 로고
    • A very frequent mutation and remarkable association of R761H with M694V mutations in Turkish familial Mediterranean fever patients
    • Demirkaya E., et al. A very frequent mutation and remarkable association of R761H with M694V mutations in Turkish familial Mediterranean fever patients. Clin. Rheumatol. 2008, 27:729-732.
    • (2008) Clin. Rheumatol. , vol.27 , pp. 729-732
    • Demirkaya, E.1
  • 9
    • 84863753391 scopus 로고    scopus 로고
    • Evaluating MEFV mutation frequency in Turkish familial Mediterranean fever suspected patients and gender correlation: a retrospective study
    • Dogan H.O., et al. Evaluating MEFV mutation frequency in Turkish familial Mediterranean fever suspected patients and gender correlation: a retrospective study. Mol. Biol. Rep. 2012, 39:6193-6196.
    • (2012) Mol. Biol. Rep. , vol.39 , pp. 6193-6196
    • Dogan, H.O.1
  • 10
    • 84855225080 scopus 로고    scopus 로고
    • Common familial Mediterranean fever gene mutations in a Turkish cohort
    • Dundar M., et al. Common familial Mediterranean fever gene mutations in a Turkish cohort. Mol. Biol. Rep. 2011, 38:5065-5069.
    • (2011) Mol. Biol. Rep. , vol.38 , pp. 5065-5069
    • Dundar, M.1
  • 11
    • 77953433265 scopus 로고    scopus 로고
    • Familial Mediterranean fever: a retrospective clinical and molecular study in the East of Anatolia Region of Turkey
    • Ethem E.O., et al. Familial Mediterranean fever: a retrospective clinical and molecular study in the East of Anatolia Region of Turkey. Open Rheumatol. J. 2010, 4:1-6.
    • (2010) Open Rheumatol. J. , vol.4 , pp. 1-6
    • Ethem, E.O.1
  • 12
    • 67349287415 scopus 로고    scopus 로고
    • Familial Mediterranean fever: a review for clinical management
    • Fonnesu C., et al. Familial Mediterranean fever: a review for clinical management. Joint Bone Spine 2009, 76:227-233.
    • (2009) Joint Bone Spine , vol.76 , pp. 227-233
    • Fonnesu, C.1
  • 14
    • 67650034998 scopus 로고    scopus 로고
    • The clinical spectrum of 94 patients carrying a single MEFV allele
    • Kone-Paut I., et al. The clinical spectrum of 94 patients carrying a single MEFV allele. Rheumatology 2009, 48:840-842.
    • (2009) Rheumatology , vol.48 , pp. 840-842
    • Kone-Paut, I.1
  • 15
    • 79952246123 scopus 로고    scopus 로고
    • Current data on familial Mediterranean fever
    • Kone-Paut I., et al. Current data on familial Mediterranean fever. Joint Bone Spine 2011, 78:111-114.
    • (2011) Joint Bone Spine , vol.78 , pp. 111-114
    • Kone-Paut, I.1
  • 16
    • 33744762729 scopus 로고    scopus 로고
    • Clinical and sub-clinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations
    • Lachmann H.J. Clinical and sub-clinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations. Rheumatology 2006, 45:746-750.
    • (2006) Rheumatology , vol.45 , pp. 746-750
    • Lachmann, H.J.1
  • 17
    • 0030783102 scopus 로고    scopus 로고
    • Criteria for the diagnosis of familial Mediterranean fever
    • Livneh A., 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
  • 18
    • 0035146714 scopus 로고    scopus 로고
    • Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Creek orthodoxes, Creek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations
    • Mansour I., et al. Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Creek orthodoxes, Creek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations. Eur. J. Hum. Genet. 2001, 9:51-55.
    • (2001) Eur. J. Hum. Genet. , vol.9 , pp. 51-55
    • Mansour, I.1
  • 19
    • 20044395312 scopus 로고    scopus 로고
    • MEFV mutations in familial Mediterranean fever: association of M694V homozygosity with arthritis
    • Olgun A., et al. MEFV mutations in familial Mediterranean fever: association of M694V homozygosity with arthritis. Rheumatol. Int. 2005, 25:255-259.
    • (2005) Rheumatol. Int. , vol.25 , pp. 255-259
    • Olgun, A.1
  • 20
    • 80052428205 scopus 로고    scopus 로고
    • Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers
    • Ozdemir O., et al. Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers. Mol. Biol. Rep. 2011, 38:3195-3320.
    • (2011) Mol. Biol. Rep. , vol.38 , pp. 3195-3320
    • Ozdemir, O.1
  • 21
    • 77949269546 scopus 로고    scopus 로고
    • MEFV heterogeneity in Turkish Familial Mediterranean Fever patients
    • Papadopoulos V., et al. MEFV heterogeneity in Turkish Familial Mediterranean Fever patients. Mol. Biol. Rep. 2010, 37:355-358.
    • (2010) Mol. Biol. Rep. , vol.37 , pp. 355-358
    • Papadopoulos, V.1
  • 22
    • 0033910042 scopus 로고    scopus 로고
    • Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever
    • Shinar Y., 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
  • 23
    • 0032929738 scopus 로고    scopus 로고
    • Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis
    • Shohat M., et al. Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis. Eur. J. Hum. Genet. 1999, 7:287-292.
    • (1999) Eur. J. Hum. Genet. , vol.7 , pp. 287-292
    • Shohat, M.1
  • 24
    • 33846139340 scopus 로고    scopus 로고
    • Pathogenesis of familial periodic fever syndromes or hereditary autoinflammatory syndromes
    • Simon A., van der Meer J.W.M. Pathogenesis of familial periodic fever syndromes or hereditary autoinflammatory syndromes. Am. J. Physiol. Regul. Integr. Comp. Physiol. 2007, 292:R86-R98.
    • (2007) Am. J. Physiol. Regul. Integr. Comp. Physiol. , vol.292
    • Simon, A.1    van der Meer, J.W.M.2
  • 25
    • 12344314454 scopus 로고    scopus 로고
    • Familial Mediterranean fever in Turkey: the results of a nationwide multicenter study
    • Tunca M., et al. Familial Mediterranean fever in Turkey: the results of a nationwide multicenter study. Medicine 2005, 84:1-11.
    • (2005) Medicine , vol.84 , pp. 1-11
    • Tunca, M.1
  • 26
    • 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., 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
  • 27
    • 84855226917 scopus 로고    scopus 로고
    • MEFV mutations in cases with Familial Mediterranean Fever (FMF)
    • Yesilada E., et al. MEFV mutations in cases with Familial Mediterranean Fever (FMF). JIUTF 2005, 12:235-238.
    • (2005) JIUTF , vol.12 , pp. 235-238
    • Yesilada, E.1
  • 28
    • 0034879079 scopus 로고    scopus 로고
    • Mutation frequency of familial Mediterranean fever and evidence for a high carrier rate in the Turkish population
    • Yilmaz E., et al. Mutation frequency of familial Mediterranean fever and evidence for a high carrier rate in the Turkish population. Eur. J. Hum. Genet. 2001, 9:553-555.
    • (2001) Eur. J. Hum. Genet. , vol.9 , pp. 553-555
    • Yilmaz, E.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.