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Volumn 16, Issue 3, 2003, Pages 438-442

Portuguese-type amyloidosis (transthyretin amyloidosis, ATTR V30M)

Author keywords

Amyloidosis; End stage renal disease; Familial; Hereditary; Kidney; Neuropathy; Proteinuria; Transthyretin

Indexed keywords

CALCINEURIN INHIBITOR; CYCLOSPORIN; IMMUNOSUPPRESSIVE AGENT; IRON; METHIONINE; MUTANT PROTEIN; PREALBUMIN; RECOMBINANT ERYTHROPOIETIN;

EID: 0038127264     PISSN: 11218428     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper
Times cited : (48)

References (32)
  • 1
    • 0023002761 scopus 로고
    • Genetic expression of a transthyretin mutation in typical and late-onset families
    • Saraiva MJ, Costa PP, Goodman DS. Genetic expression of a transthyretin mutation in typical and late-onset families. Neurology 1986; 36: 1413-7.
    • (1986) Neurology , vol.36 , pp. 1413-1417
    • Saraiva, M.J.1    Costa, P.P.2    Goodman, D.S.3
  • 2
    • 0012357693 scopus 로고    scopus 로고
    • Polyneuropathie amylöide familiale
    • In Grateau G, Benson MD, Delpech M Ed.; Paris: Médecine-Sciences Flammarion
    • Benson MD. Polyneuropathie amylöide familiale. In Grateau G, Benson MD, Delpech M Ed. Les Amyloses. Paris: Médecine-Sciences Flammarion 2000; 445-56.
    • (2000) Les Amyloses , pp. 445-456
    • Benson, M.D.1
  • 4
    • 0021266985 scopus 로고
    • Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type. Definition of molecular abnormality in transthyretin (pre-albumin)
    • Saraiva MJ, Birken S, Costa PP, Goodman DS. Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type. Definition of molecular abnormality in transthyretin (pre-albumin). J Clin Invest 1983; 74: 104-19.
    • (1983) J Clin Invest , vol.74 , pp. 104-119
    • Saraiva, M.J.1    Birken, S.2    Costa, P.P.3    Goodman, D.S.4
  • 5
    • 0017824077 scopus 로고
    • Structure of prealbumin: Secondary, tertiary and quarternary interactions determined by Fourier refinement at 1.8 Å
    • Blake CC, Geisow MJ, Oatley SJ. Structure of prealbumin: Secondary, tertiary and quarternary interactions determined by Fourier refinement at 1.8 Å. J Mol Biol 1978; 121: 339-56.
    • (1978) J Mol Biol , vol.121 , pp. 339-356
    • Blake, C.C.1    Geisow, M.J.2    Oatley, S.J.3
  • 6
    • 0023035893 scopus 로고
    • Transcriptional control of the mouse prealbumin (transthyretin) gene: Both promotor sequence and a distinct enhancer are cell specific
    • Costa RH, Lai E, Darnell JE. Transcriptional control of the mouse prealbumin (transthyretin) gene: Both promotor sequence and a distinct enhancer are cell specific. Mol Cell Biol 1986; 6: 4697-708.
    • (1986) Mol Cell Biol , vol.6 , pp. 4697-4708
    • Costa, R.H.1    Lai, E.2    Darnell, J.E.3
  • 9
    • 0025254177 scopus 로고
    • The retinal epithelium is the unique site of transthyretin synthesis in the rat eye
    • Cavallaro T, Martone RL, Dwork AJ. The retinal epithelium is the unique site of transthyretin synthesis in the rat eye. Invest Ophthalmol Vis Sci 1990; 31: 497-501.
    • (1990) Invest Ophthalmol Vis Sci , vol.31 , pp. 497-501
    • Cavallaro, T.1    Martone, R.L.2    Dwork, A.J.3
  • 11
    • 0020524650 scopus 로고
    • Studies on plasma transthyretin (prealbumin) in familial amyloid polyneuropathy, Portuguese type
    • Saraiva MJ, Costa PP, Goodman DS. Studies on plasma transthyretin (prealbumin) in familial amyloid polyneuropathy, Portuguese type. J Lab Clin Med 1983; 102: 590-603.
    • (1983) J Lab Clin Med , vol.102 , pp. 590-603
    • Saraiva, M.J.1    Costa, P.P.2    Goodman, D.S.3
  • 12
    • 0022245005 scopus 로고
    • Structure of the chromosomal gene for human serum prealbumin
    • Sasaki H, Yoshioka N, Takagi Y, Sakaki Y. Structure of the chromosomal gene for human serum prealbumin. Gene 1985; 37: 191-7.
    • (1985) Gene , vol.37 , pp. 191-197
    • Sasaki, H.1    Yoshioka, N.2    Takagi, Y.3    Sakaki, Y.4
  • 13
    • 0028969996 scopus 로고
    • Transthyretin mutations in health and disease
    • Saraiva MJ. Transthyretin mutations in health and disease. Hum Mutat 1995; 5: 191-6.
    • (1995) Hum Mutat , vol.5 , pp. 191-196
    • Saraiva, M.J.1
  • 16
    • 77957180065 scopus 로고
    • A peculiar form of peripheral neuropathy: Familial atypical generalized amyloidosis with specifical involvement of the peripheral nerves
    • Andrade C. A peculiar form of peripheral neuropathy: Familial atypical generalized amyloidosis with specifical involvement of the peripheral nerves. Brain 1952; 75: 408-27.
    • (1952) Brain , vol.75 , pp. 408-427
    • Andrade, C.1
  • 17
    • 0029562263 scopus 로고
    • Genetic epidemiology of familial amyloidotic polyneuropathy (FAP) - Type I in Póvoa do Varzim and Vila do Conde (North of Portugal)
    • Sousa A, Coelho T, Barros J, Sequeiros J. Genetic epidemiology of familial amyloidotic polyneuropathy (FAP) - Type I in Póvoa do Varzim and Vila do Conde (North of Portugal). Am J Med Genet 1995; 60: 512-21.
    • (1995) Am J Med Genet , vol.60 , pp. 512-521
    • Sousa, A.1    Coelho, T.2    Barros, J.3    Sequeiros, J.4
  • 18
    • 0030992434 scopus 로고    scopus 로고
    • Screening and biochemical characterization of transthyretin variants in the Portuguese population
    • Alves IL, Atland K, Almeida MR, Winter P, Saraiva MJ. Screening and biochemical characterization of transthyretin variants in the Portuguese population. Hum Mutat 1997; 9: 226-33.
    • (1997) Hum Mutat , vol.9 , pp. 226-233
    • Alves, I.L.1    Atland, K.2    Almeida, M.R.3    Winter, P.4    Saraiva, M.J.5
  • 20
    • 0038530264 scopus 로고
    • A variabilidade fenotípica da polineuropatia amiloidótica familiar: Um estudo de genética quantitativa em Portugal e na Suécia
    • PhD thesis, Universidade do Porto
    • Sousa A. A variabilidade fenotípica da polineuropatia amiloidótica familiar: Um estudo de genética quantitativa em Portugal e na Suécia. PhD thesis, Universidade do Porto; 1994.
    • (1994)
    • Sousa, A.1
  • 21
    • 0027275791 scopus 로고
    • Familail Amyloidotic polyneuropathy in Sweden: Geographical distribution, age of onset and prevalence
    • Sousa A, Andersson R, Drugge U, Holmgren G, Sandgren O. Familail Amyloidotic polyneuropathy in Sweden: Geographical distribution, age of onset and prevalence. Hum Hered 1993; 43: 293-9.
    • (1993) Hum Hered , vol.43 , pp. 293-299
    • Sousa, A.1    Andersson, R.2    Drugge, U.3    Holmgren, G.4    Sandgren, O.5
  • 23
    • 0030910351 scopus 로고    scopus 로고
    • Ocular manifestations of familial amyloidotic polyneuropathy type I: Long term follow-up
    • Ando E, Ando Y, Okamura R, Uchino M, Ando M, Negi A. Ocular manifestations of familial amyloidotic polyneuropathy type I: Long term follow-up. Br J Ophthalmol 1997; 81: 295-98.
    • (1997) Br J Ophthalmol , vol.81 , pp. 295-298
    • Ando, E.1    Ando, Y.2    Okamura, R.3    Uchino, M.4    Ando, M.5    Negi, A.6
  • 31
    • 0025076810 scopus 로고
    • Prenatal diagnosis of familial amyloidotic polyneuropathy: Evidence for an early expression of the associated transthyretin methionine 30
    • Almeida MR, Alves IL, Sakaki Y, Costa PP, Saraiva MJ. Prenatal diagnosis of familial amyloidotic polyneuropathy: Evidence for an early expression of the associated transthyretin methionine 30. Hum Genet 1990; 85: 623-6.
    • (1990) Hum Genet , vol.85 , pp. 623-626
    • Almeida, M.R.1    Alves, I.L.2    Sakaki, Y.3    Costa, P.P.4    Saraiva, M.J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.