메뉴 건너뛰기




Volumn 267, Issue 1-2, 2008, Pages 91-99

Transthyretin Ala97Ser in Chinese-Taiwanese patients with familial amyloid polyneuropathy: Genetic studies and phenotype expression

Author keywords

Ala97Ser; Chinese; Familial amyloid polyneuropathy; Taiwanese; Transthyretin (TTR)

Indexed keywords

ALANINE; AMYLOID; PREALBUMIN; SERINE;

EID: 39049160060     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2007.10.011     Document Type: Article
Times cited : (37)

References (28)
  • 1
    • 0035957104 scopus 로고    scopus 로고
    • Transthyretin-associated neuropathic amyloidosis. Pathogenesis and treatment
    • Hund E., Linke R.P., Willig F., and Grau A. Transthyretin-associated neuropathic amyloidosis. Pathogenesis and treatment. Neurology 56 4 (2001) 431-435
    • (2001) Neurology , vol.56 , Issue.4 , pp. 431-435
    • Hund, E.1    Linke, R.P.2    Willig, F.3    Grau, A.4
  • 2
    • 0028969996 scopus 로고
    • Transthyretin mutations in health and disease
    • Saraiva M.J.M. Transthyretin mutations in health and disease. Hum Mutat 5 3 (1995) 191-196
    • (1995) Hum Mutat , vol.5 , Issue.3 , pp. 191-196
    • Saraiva, M.J.M.1
  • 3
    • 0034935464 scopus 로고    scopus 로고
    • Hereditary and acquired amyloid neuropathies
    • Adams D. Hereditary and acquired amyloid neuropathies. J Neurol 248 8 (2001) 647-657
    • (2001) J Neurol , vol.248 , Issue.8 , pp. 647-657
    • Adams, D.1
  • 4
    • 0033793972 scopus 로고    scopus 로고
    • Transthyretin related familial amyloid polyneuropathy
    • Plante-Bordeneuve V., and Said G. Transthyretin related familial amyloid polyneuropathy. Curr Opin Neurol 13 5 (2001) 569-573
    • (2001) Curr Opin Neurol , vol.13 , Issue.5 , pp. 569-573
    • Plante-Bordeneuve, V.1    Said, G.2
  • 5
    • 0344074661 scopus 로고    scopus 로고
    • Genotypic-phenotypic variations in a series of 65 patients with familial amyloid polyneuropathy
    • Plante-Bordeneuve V., Lalu T., Misrahi M., Reilly M.M., Adams D., Lacroix C., et al. Genotypic-phenotypic variations in a series of 65 patients with familial amyloid polyneuropathy. Neurology 51 3 (1998) 708-714
    • (1998) Neurology , vol.51 , Issue.3 , pp. 708-714
    • Plante-Bordeneuve, V.1    Lalu, T.2    Misrahi, M.3    Reilly, M.M.4    Adams, D.5    Lacroix, C.6
  • 6
    • 0029095429 scopus 로고    scopus 로고
    • Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy
    • Reilly M.M., Adams D., Booth D.R., Davis M.B., Said G., Laubriat-Bianchin M., et al. Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy. Brain 118 Pt 4 (1996) 849-856
    • (1996) Brain , vol.118 , Issue.PART 4 , pp. 849-856
    • Reilly, M.M.1    Adams, D.2    Booth, D.R.3    Davis, M.B.4    Said, G.5    Laubriat-Bianchin, M.6
  • 7
    • 0037046222 scopus 로고    scopus 로고
    • Familial transthyretin-type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity
    • Ikeda S., Nakazato M., Ando Y., and Sobue G. Familial transthyretin-type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity. Neurology 58 7 (2002) 1001-1007
    • (2002) Neurology , vol.58 , Issue.7 , pp. 1001-1007
    • Ikeda, S.1    Nakazato, M.2    Ando, Y.3    Sobue, G.4
  • 8
    • 0036846492 scopus 로고    scopus 로고
    • Study Group for Hereditary Neuropathy in Japan. Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan: early- vs late-onset form
    • Koike H., Misu K., Ikeda S., Ando Y., Nakazato M., Ando E., et al. Study Group for Hereditary Neuropathy in Japan. Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan: early- vs late-onset form. Arch Neurol 59 11 (2002) 1771-1776
    • (2002) Arch Neurol , vol.59 , Issue.11 , pp. 1771-1776
    • Koike, H.1    Misu, K.2    Ikeda, S.3    Ando, Y.4    Nakazato, M.5    Ando, E.6
  • 9
    • 0032863087 scopus 로고    scopus 로고
    • Late-onset familial amyloid polyneuropathy type I (transthyretin Met30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan. Clinicopathological and genetic features
    • Misu K., Hattori N., Nagamastsu M., Ikeda S., Ando Y., Nakazato M., et al. Late-onset familial amyloid polyneuropathy type I (transthyretin Met30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan. Clinicopathological and genetic features. Brain 122 Pt 10 (1999) 1951-1962
    • (1999) Brain , vol.122 , Issue.PART 10 , pp. 1951-1962
    • Misu, K.1    Hattori, N.2    Nagamastsu, M.3    Ikeda, S.4    Ando, Y.5    Nakazato, M.6
  • 10
    • 0030982188 scopus 로고    scopus 로고
    • Familial amyloidosis in one Chinese family: clinical, immunological, and molecular genetic analysis
    • Chou C.T., Lee C.C., Change D.M., Buxbaum J.N., and Jacobson D.R. Familial amyloidosis in one Chinese family: clinical, immunological, and molecular genetic analysis. J Intern Med 241 4 (1997) 327-331
    • (1997) J Intern Med , vol.241 , Issue.4 , pp. 327-331
    • Chou, C.T.1    Lee, C.C.2    Change, D.M.3    Buxbaum, J.N.4    Jacobson, D.R.5
  • 11
    • 0035997528 scopus 로고    scopus 로고
    • Identification of a novel transthyretin Thr59Lys/Arg104His. A case of compound heterozygosity in a Chinese patient diagnosed with familial transthyretin amyloidosis
    • Lim A., Prokaeva T., Connor L.H., Falk R.H., Skinner M., and Costello C.E. Identification of a novel transthyretin Thr59Lys/Arg104His. A case of compound heterozygosity in a Chinese patient diagnosed with familial transthyretin amyloidosis. Amyloid 9 2 (2002) 134-140
    • (2002) Amyloid , vol.9 , Issue.2 , pp. 134-140
    • Lim, A.1    Prokaeva, T.2    Connor, L.H.3    Falk, R.H.4    Skinner, M.5    Costello, C.E.6
  • 12
    • 0034241448 scopus 로고    scopus 로고
    • Transthyretin Ala97Ser is associated with familial amyloidotic polyneuropathy in a Chinese-Taiwanese family
    • Lachmann H.J., Booth D.R., Bybee A., and Hawkins P.N. Transthyretin Ala97Ser is associated with familial amyloidotic polyneuropathy in a Chinese-Taiwanese family. Hum Mutat 16 2 (2000) 180
    • (2000) Hum Mutat , vol.16 , Issue.2 , pp. 180
    • Lachmann, H.J.1    Booth, D.R.2    Bybee, A.3    Hawkins, P.N.4
  • 13
    • 0037507293 scopus 로고    scopus 로고
    • Genetics of familial amyloidotic polyneuropathy in a Hong Kong Chinese kindred
    • Mak C.M., Lam C.W., Fan S.T., Liu C.L., and Tam S.C. Genetics of familial amyloidotic polyneuropathy in a Hong Kong Chinese kindred. Acta Neurol Scand 107 6 (2003) 419-422
    • (2003) Acta Neurol Scand , vol.107 , Issue.6 , pp. 419-422
    • Mak, C.M.1    Lam, C.W.2    Fan, S.T.3    Liu, C.L.4    Tam, S.C.5
  • 14
    • 23044512559 scopus 로고    scopus 로고
    • A novel transthyretin mutation V32A in a Chinese man with late-onset amyloid polyneuropathy
    • Pica E.C., Pramono Z.A., Verma K.K., San L.P., and Chee Y.W. A novel transthyretin mutation V32A in a Chinese man with late-onset amyloid polyneuropathy. Muscle Nerve 32 2 (2005) 223-225
    • (2005) Muscle Nerve , vol.32 , Issue.2 , pp. 223-225
    • Pica, E.C.1    Pramono, Z.A.2    Verma, K.K.3    San, L.P.4    Chee, Y.W.5
  • 15
    • 0033428635 scopus 로고    scopus 로고
    • Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy
    • Tachibana N., Tokuda T., Yoshida K., Taketomi T., Nakazato M., Li Y.F., et al. Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy. Amyloid 6 4 (1999) 282-288
    • (1999) Amyloid , vol.6 , Issue.4 , pp. 282-288
    • Tachibana, N.1    Tokuda, T.2    Yoshida, K.3    Taketomi, T.4    Nakazato, M.5    Li, Y.F.6
  • 16
    • 39049164148 scopus 로고    scopus 로고
    • Kimura J. Nerve conduction studies and electromyography. In: Dyck PJ, Thomas PK, Griffin JW, et al. (eds) Peripheral Neuropathy, 3rd ed. WB Saunders, Philadelphia pp. 598-644.
    • Kimura J. Nerve conduction studies and electromyography. In: Dyck PJ, Thomas PK, Griffin JW, et al. (eds) Peripheral Neuropathy, 3rd ed. WB Saunders, Philadelphia pp. 598-644.
  • 17
    • 0032080010 scopus 로고    scopus 로고
    • Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis
    • Patrosso M.C., Salvi F., De Grandis D., Vezzoni P., Jacobson D.R., and Ferlini A. Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis. Am J Med Genet 77 2 (1998) 135-138
    • (1998) Am J Med Genet , vol.77 , Issue.2 , pp. 135-138
    • Patrosso, M.C.1    Salvi, F.2    De Grandis, D.3    Vezzoni, P.4    Jacobson, D.R.5    Ferlini, A.6
  • 18
    • 0027023491 scopus 로고
    • Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindred with hereditary amyloidosis
    • Almeida M.R., Ferlini A., Forabosco A., Gawinowicz M., Costa P.P., Salvi F., et al. Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindred with hereditary amyloidosis. Hum Mutat 1 3 (1992) 211-215
    • (1992) Hum Mutat , vol.1 , Issue.3 , pp. 211-215
    • Almeida, M.R.1    Ferlini, A.2    Forabosco, A.3    Gawinowicz, M.4    Costa, P.P.5    Salvi, F.6
  • 19
    • 0024538761 scopus 로고
    • Haplotype analysis of familial amyloidotic polyneuropathy. Evidence for multiple origins of the Val-Met mutation most common to the disease
    • Yoshioka K., Furuya H., Sasaki H., Saraiva M.J.M., Costa P.P., and Sakaki Y. Haplotype analysis of familial amyloidotic polyneuropathy. Evidence for multiple origins of the Val-Met mutation most common to the disease. Hum Genet 82 1 (1989) 9-13
    • (1989) Hum Genet , vol.82 , Issue.1 , pp. 9-13
    • Yoshioka, K.1    Furuya, H.2    Sasaki, H.3    Saraiva, M.J.M.4    Costa, P.P.5    Sakaki, Y.6
  • 20
    • 0027234278 scopus 로고
    • 30 in a familial amyloidotic polyenuropathy is not due to a founder effect
    • 30 in a familial amyloidotic polyenuropathy is not due to a founder effect. Hum Mol Genet 2 8 (1993) 1303-1305
    • (1993) Hum Mol Genet , vol.2 , Issue.8 , pp. 1303-1305
    • Ii, S.1    Sommer, S.S.2
  • 22
    • 0028894911 scopus 로고
    • Haplotype analysis of French, British and other European patients with familial amyloid polyneuropathy (met 30 and tyr 77)
    • Reilly M.M., Adams D., Davis M.B., Said G., and Harding A.E. Haplotype analysis of French, British and other European patients with familial amyloid polyneuropathy (met 30 and tyr 77). J Neurol 242 10 (1995) 664-668
    • (1995) J Neurol , vol.242 , Issue.10 , pp. 664-668
    • Reilly, M.M.1    Adams, D.2    Davis, M.B.3    Said, G.4    Harding, A.E.5
  • 23
    • 2342614233 scopus 로고    scopus 로고
    • Common origin of the Val30Met mutation responsible for the amyloidogenic thansthyretin type of familial amyloidotic polyneuropathy
    • Ohmori H., Ando Y., Makita Y., Onouchi Y., Nakajima T., Saraiva M.J., et al. Common origin of the Val30Met mutation responsible for the amyloidogenic thansthyretin type of familial amyloidotic polyneuropathy. J Med Genet 41 (2004) e51
    • (2004) J Med Genet , vol.41
    • Ohmori, H.1    Ando, Y.2    Makita, Y.3    Onouchi, Y.4    Nakajima, T.5    Saraiva, M.J.6
  • 24
    • 22844447647 scopus 로고    scopus 로고
    • Transthyretin-related familial amyloidotic polyneuropathy
    • Ando Y., Nakamura M., and Araki S. Transthyretin-related familial amyloidotic polyneuropathy. Arch Neurol 62 7 (2005) 1057-1062
    • (2005) Arch Neurol , vol.62 , Issue.7 , pp. 1057-1062
    • Ando, Y.1    Nakamura, M.2    Araki, S.3
  • 25
    • 0033956832 scopus 로고    scopus 로고
    • Peripheral nerve amyloidosis in sural nerve biopsies: a clinicopathologic analysis of 13 cases
    • Rajani B., Rajani V., and Prayson R.A. Peripheral nerve amyloidosis in sural nerve biopsies: a clinicopathologic analysis of 13 cases. Arch Pathol Lab Med 124 1 (2000) 114-118
    • (2000) Arch Pathol Lab Med , vol.124 , Issue.1 , pp. 114-118
    • Rajani, B.1    Rajani, V.2    Prayson, R.A.3
  • 27
    • 33748788511 scopus 로고    scopus 로고
    • The transthyretin-related protein: structural investigation of a novel protein family
    • Lundberg E., Backstrom S., Sauer U.H., and Sauer-Eriksson A.E. The transthyretin-related protein: structural investigation of a novel protein family. J Struct Biol 155 3 (2006) 445-457
    • (2006) J Struct Biol , vol.155 , Issue.3 , pp. 445-457
    • Lundberg, E.1    Backstrom, S.2    Sauer, U.H.3    Sauer-Eriksson, A.E.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.