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Volumn 162, Issue 3, 2010, Pages 642-646

Molecular epidemiology of erythropoietic protoporphyria in the U.K.

Author keywords

ALAS2; Erythropoietic protoporphyria; Ferrochelatase; Mutations

Indexed keywords

5 AMINOLEVULINATE SYNTHASE; FERROCHELATASE; GENOMIC DNA;

EID: 76949097527     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2010.09631.x     Document Type: Article
Times cited : (58)

References (23)
  • 1
    • 0028149374 scopus 로고
    • Erythropoietic protoporphyria
    • Todd DJ. Erythropoietic protoporphyria. Br J Dermatol 1994 131 : 751 766.
    • (1994) Br J Dermatol , vol.131 , pp. 751-766
    • Todd, D.J.1
  • 2
    • 84940927252 scopus 로고    scopus 로고
    • Protoporphyria
    • In. Kadish, K.M. Smith, K.M. Guilard, R. eds). Amsterdam. Academic Press
    • Cox TM. Protoporphyria. In : The Porphyrin Handbook (Kadish KM, Smith KM, Guilard R, eds). Amsterdam : Academic Press, 2003 121 150.
    • (2003) The Porphyrin Handbook , pp. 121-150
    • Cox, T.M.1
  • 3
    • 33747033382 scopus 로고    scopus 로고
    • Erythropoietic protoporphyria in the U.K.: Clinical features and effect on quality of life
    • Holme SA, Anstey AV, Finlay AY et al. Erythropoietic protoporphyria in the U.K.: clinical features and effect on quality of life. Br J Dermatol 2006 155 : 574 581.
    • (2006) Br J Dermatol , vol.155 , pp. 574-581
    • Holme, S.A.1    Anstey, A.V.2    Finlay, A.Y.3
  • 4
    • 0036337671 scopus 로고    scopus 로고
    • The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH
    • Gouya L, Puy H, Robreau AM et al. The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH. Nat Genet 2002 30 : 27 8.
    • (2002) Nat Genet , vol.30 , pp. 27-28
    • Gouya, L.1    Puy, H.2    Robreau, A.M.3
  • 5
    • 16544379257 scopus 로고    scopus 로고
    • Autosomal recessive erythropoietic protoporphyria in the United Kingdom: Prevalence and relationship to liver disease
    • Whatley SD, Mason NG, Khan M et al. Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease. J Med Genet 2004 41 : e105.
    • (2004) J Med Genet , vol.41 , pp. 105
    • Whatley, S.D.1    Mason, N.G.2    Khan, M.3
  • 6
    • 29244454253 scopus 로고    scopus 로고
    • Contribution of a single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria
    • Gouya L, Martin-Schmitt C, Robreau A-M et al. Contribution of a single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. Am J Hum Genet 2006 78 : 2 14.
    • (2006) Am J Hum Genet , vol.78 , pp. 2-14
    • Gouya, L.1    Martin-Schmitt, C.2    Robreau, A.-M.3
  • 7
    • 51149108520 scopus 로고    scopus 로고
    • C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload
    • Whatley SD, Ducamp S, Gouya L et al. C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. Am J Hum Genet 2008 83 : 408 414.
    • (2008) Am J Hum Genet , vol.83 , pp. 408-414
    • Whatley, S.D.1    Ducamp, S.2    Gouya, L.3
  • 8
    • 84855582928 scopus 로고    scopus 로고
    • Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family
    • Aug 31 [Epub]
    • Schneider-Yin X, Mamet R, Minder EI, Schoenfeld N. Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family. J Inherit Metab Dis 2008 Aug 31 [Epub].
    • (2008) J Inherit Metab Dis
    • Schneider-Yin, X.1    Mamet, R.2    Minder, E.I.3    Schoenfeld, N.4
  • 9
    • 45749102013 scopus 로고    scopus 로고
    • Molecular characterization of erythropoietic protoporphyria in South Africa
    • Parker M, Corrigall AV, Hift RJ, Meissner PN. Molecular characterization of erythropoietic protoporphyria in South Africa. Br J Dermatol 2008 159 : 182 191.
    • (2008) Br J Dermatol , vol.159 , pp. 182-191
    • Parker, M.1    Corrigall, A.V.2    Hift, R.J.3    Meissner, P.N.4
  • 10
  • 11
    • 59949095105 scopus 로고    scopus 로고
    • Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance
    • Holme SA, Whatley SD, Roberts AG et al. Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance. J Invest Dermatol 2009 129 : 599 605.
    • (2009) J Invest Dermatol , vol.129 , pp. 599-605
    • Holme, S.A.1    Whatley, S.D.2    Roberts, A.G.3
  • 12
    • 36248996414 scopus 로고    scopus 로고
    • Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria
    • Whatley SD, Mason NG, Holme SA et al. Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria. J Invest Dermatol 2007 127 : 2790 2794.
    • (2007) J Invest Dermatol , vol.127 , pp. 2790-2794
    • Whatley, S.D.1    Mason, N.G.2    Holme, S.A.3
  • 13
    • 0035406122 scopus 로고    scopus 로고
    • Front line tests for the investigation of suspected porphyria
    • Deacon AC, Elder GH. Front line tests for the investigation of suspected porphyria. J Clin Pathol 2001 54 : 500 507.
    • (2001) J Clin Pathol , vol.54 , pp. 500-507
    • Deacon, A.C.1    Elder, G.H.2
  • 14
    • 35348885053 scopus 로고    scopus 로고
    • Late presentation of erythropoietic protoporphyria: Case report and genetic analysis of family members
    • Berroeta L, Man I, Goudie DR et al. Late presentation of erythropoietic protoporphyria: case report and genetic analysis of family members. Br J Dermatol 2007 157 : 1030 1031.
    • (2007) Br J Dermatol , vol.157 , pp. 1030-1031
    • Berroeta, L.1    Man, I.2    Goudie, D.R.3
  • 16
    • 0037223781 scopus 로고    scopus 로고
    • Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria
    • Wiman A, Floderus Y, Harper P. Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria. J Hum Genet 2003 48 : 70 6.
    • (2003) J Hum Genet , vol.48 , pp. 70-76
    • Wiman, A.1    Floderus, Y.2    Harper, P.3
  • 17
    • 0142058045 scopus 로고    scopus 로고
    • Genotypic determinants of phenotype in North American patients with erythropoietic protoporphyria
    • Risheg H, Chen FP, Bloomer JR. Genotypic determinants of phenotype in North American patients with erythropoietic protoporphyria. Mol Genet Metab 2003 80 : 196 206.
    • (2003) Mol Genet Metab , vol.80 , pp. 196-206
    • Risheg, H.1    Chen, F.P.2    Bloomer, J.R.3
  • 18
    • 33748336486 scopus 로고    scopus 로고
    • Genetic analysis of the ferrochelatase gene in eight Japanese patients from seven families with erythropoietic protoporphyria
    • Saruwatari H, Ueki Y, Yotsumoto S et al. Genetic analysis of the ferrochelatase gene in eight Japanese patients from seven families with erythropoietic protoporphyria. J Dermatol 2006 33 : 603 608.
    • (2006) J Dermatol , vol.33 , pp. 603-608
    • Saruwatari, H.1    Ueki, Y.2    Yotsumoto, S.3
  • 19
    • 33947713438 scopus 로고    scopus 로고
    • Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria
    • Aurizi C, Schneider-Yin X, Sorge F et al. Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria. Mol Genet Metab 2007 90 : 402 407.
    • (2007) Mol Genet Metab , vol.90 , pp. 402-407
    • Aurizi, C.1    Schneider-Yin, X.2    Sorge, F.3
  • 20
    • 34548837512 scopus 로고    scopus 로고
    • Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease
    • Herrero C, To-Figueras J, Badenas C et al. Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease. Arch Dermatol 2007 143 : 1125 1129.
    • (2007) Arch Dermatol , vol.143 , pp. 1125-1129
    • Herrero, C.1    To-Figueras, J.2    Badenas, C.3
  • 21
    • 67650081282 scopus 로고    scopus 로고
    • Diagnostic strategies for autosomal dominant acute porphyrias: Retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene
    • Whatley SD, Mason NG, Woolf JR et al. Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene. Clin Chem 2009 55 : 1406 1414.
    • (2009) Clin Chem , vol.55 , pp. 1406-1414
    • Whatley, S.D.1    Mason, N.G.2    Woolf, J.R.3
  • 22
    • 0027204088 scopus 로고
    • Identification of a single base pair deletion (40 del G) in exon 1 of the ferrochelatase gene in patients with erythropoietic protoporphyria
    • Todd DJ, Hughes AE, Ennis KT et al. Identification of a single base pair deletion (40 del G) in exon 1 of the ferrochelatase gene in patients with erythropoietic protoporphyria. Hum Mol Genet 1993 2 : 1495 1496.
    • (1993) Hum Mol Genet , vol.2 , pp. 1495-1496
    • Todd, D.J.1    Hughes, A.E.2    Ennis, K.T.3
  • 23
    • 0034663191 scopus 로고    scopus 로고
    • Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria
    • Schneider-Yin X, Gouya L, Dorsey M et al. Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria. Blood 2000 96 : 1545 1549.
    • (2000) Blood , vol.96 , pp. 1545-1549
    • Schneider-Yin, X.1    Gouya, L.2    Dorsey, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.