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Volumn 84, Issue 4, 2000, Pages 390-394

Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; AMYLOIDOSIS; ARTICLE; CASE REPORT; CHROMOSOME 9Q; CORNEA DYSTROPHY; FAMILY; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HUMAN; MALE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; UNITED KINGDOM;

EID: 0034057570     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.84.4.390     Document Type: Article
Times cited : (37)

References (30)
  • 1
    • 0031020733 scopus 로고    scopus 로고
    • Kerato-epithelin mutations in four 5q31-linked corneal dystrophies
    • Munier FL, Korvatska E, Djemai A, et al. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet 1997;15:247-51.
    • (1997) Nat Genet , vol.15 , pp. 247-251
    • Munier, F.L.1    Korvatska, E.2    Djemai, A.3
  • 2
    • 17744411573 scopus 로고    scopus 로고
    • A kerato-epithelin (βig-h3) mutation in lattice corneal dystrophy type IIIA
    • Yamamoto S, Okada M, Tsujikawa M, et al. A kerato-epithelin (βig-h3) mutation in lattice corneal dystrophy type IIIA. Am J Hum Genet 1998; 62: 719-22.
    • (1998) Am J Hum Genet , vol.62 , pp. 719-722
    • Yamamoto, S.1    Okada, M.2    Tsujikawa, M.3
  • 3
    • 0033498186 scopus 로고    scopus 로고
    • A mutation within exon 14 of the TGFBI (BIG-H3) gene on chromosome 5q31 causes an aysmmetrical, late-onset form of lattice corneal dystrophy
    • in press
    • Stewart H, Black G, Donnai, D, et al. A mutation within exon 14 of the TGFBI (BIG-H3) gene on chromosome 5q31 causes an aysmmetrical, late-onset form of lattice corneal dystrophy. Ophthalmology (in press).
    • Ophthalmology
    • Stewart, H.1    Black, G.2    Donnai, D.3
  • 4
    • 0025666454 scopus 로고
    • Finnish hereditary amyloidosis is caused by a single nucleotide sustitution in the gelsolin gene
    • Maury CPJ, Kere J, Tolvanen R, et al. Finnish hereditary amyloidosis is caused by a single nucleotide sustitution in the gelsolin gene. FEBS Lett 1990;276:75-7.
    • (1990) FEBS Lett , vol.276 , pp. 75-77
    • Cpj, M.1    Kere, J.2    Tolvanen, R.3
  • 5
    • 0014640130 scopus 로고
    • Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy , skin changes, and various internal symptoms: A previously unrecognized heritable syndrome
    • Meretoja J. Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy , skin changes, and various internal symptoms: a previously unrecognized heritable syndrome. Ann Clin Res 1969;1: 314-24.
    • (1969) Ann Clin Res , vol.1 , pp. 314-324
    • Meretoja, J.1
  • 6
    • 0018776616 scopus 로고
    • Meretoja syndrome. Lattice corneal dystrophy of the cornea with hereditary generalized amyloidosis
    • Donders PC, Blanksma LJ. Meretoja syndrome. Lattice corneal dystrophy of the cornea with hereditary generalized amyloidosis. Ophthalmologica 1979;178:173-80.
    • (1979) Ophthalmologica , vol.178 , pp. 173-180
    • Donders, P.C.1    Blanksma, L.J.2
  • 8
    • 0026018993 scopus 로고
    • Dinucleotide repeat polymorphism at the GSN locus (9q32-34)
    • Kwiatkowski DJ, Perman S. Dinucleotide repeat polymorphism at the GSN locus (9q32-34). Nucleic Acid Res 1991; 19:967.
    • (1991) Nucleic Acid Res , vol.19 , pp. 967
    • Kwiatkowski, D.J.1    Perman, S.2
  • 9
    • 0018648853 scopus 로고
    • Trace polypeptides in cellular extracts and human body fluids detected by two-dimensional electrophoresis and a highly sensitive silver stain
    • Merril CR, Switzer RC, Van Keuren ML. Trace polypeptides in cellular extracts and human body fluids detected by two-dimensional electrophoresis and a highly sensitive silver stain. Proc Natl Acad Sci USA 1979;16:4335-9.
    • (1979) Proc Natl Acad Sci USA , vol.16 , pp. 4335-4339
    • Merril, C.R.1    Switzer, R.C.2    Van Keuren, M.L.3
  • 11
    • 0028968099 scopus 로고
    • Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV)
    • Sterner RD, Paunio T, Uemichi T et al. Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV). Hum Genet 1995;95: 327-30.
    • (1995) Hum Genet , vol.95 , pp. 327-330
    • Sterner, R.D.1    Paunio, T.2    Uemichi, T.3
  • 12
    • 0026936594 scopus 로고
    • Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187
    • de la Chapelle A, Tolvanen R, Boysen G, et al. Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187. Nat Genet 1992;2:157-60.
    • (1992) Nat Genet , vol.2 , pp. 157-160
    • De La Chapelle, A.1    Tolvanen, R.2    Boysen, G.3
  • 13
    • 0023276337 scopus 로고
    • Clinical features of a newly recognized type of lattice corneal dystrophy
    • Hida T, Tsubota K, Kigasawa K, et al. Clinical features of a newly recognized type of lattice corneal dystrophy. Am J Ophthalmol 1987;104:241-8.
    • (1987) Am J Ophthalmol , vol.104 , pp. 241-248
    • Hida, T.1    Tsubota, K.2    Kigasawa, K.3
  • 14
    • 0023200167 scopus 로고
    • Histopathologic and immunochemical features of lattice corneal dystrophy type III
    • Hida T, Proia AD, Kigasawa K, et al. Histopathologic and immunochemical features of lattice corneal dystrophy type III. Am J Opthalmol 1987;104:249-54.
    • (1987) Am J Opthalmol , vol.104 , pp. 249-254
    • Hida, T.1    Proia, A.D.2    Kigasawa, K.3
  • 15
    • 0028053692 scopus 로고
    • Ocular amyloid deposition in familial amyloidosis, Finnish: An analysis of native and variant gelsolin in Meratoja's syndrome
    • Kivela T, Tarkkanen A, Frangione B, et al. Ocular amyloid deposition in familial amyloidosis, Finnish: an analysis of native and variant gelsolin in Meratoja's syndrome. Invest Ophthalmol Vis Sci 1994;35:3759-69.
    • (1994) Invest Ophthalmol Vis Sci , vol.35 , pp. 3759-3769
    • Kivela, T.1    Tarkkanen, A.2    Frangione, B.3
  • 17
    • 0018663987 scopus 로고
    • Familial amyloidosis with cranial neurpathy and lattice corneal dystrophy
    • Boysen G, Galassi G, Kamieniecka Z, et al. Familial amyloidosis with cranial neurpathy and lattice corneal dystrophy. J Neurol Neurosurg Psychiatry 1979;42:1020-30
    • (1979) J Neurol Neurosurg Psychiatry , vol.42 , pp. 1020-1030
    • Boysen, G.1    Galassi, G.2    Kamieniecka, Z.3
  • 18
    • 0028270826 scopus 로고
    • Idiopathic AA amyloidosis manifested by autonomic neuropathy, vestibulocochleopathy and lattice corneal dytstophy
    • Tsundo I, Awano H, Kayama H, et al. Idiopathic AA amyloidosis manifested by autonomic neuropathy, vestibulocochleopathy and lattice corneal dytstophy. J Neurol Neurosurg Psychiatry 1994;5:635-7.
    • (1994) J Neurol Neurosurg Psychiatry , vol.5 , pp. 635-637
    • Tsundo, I.1    Awano, H.2    Kayama, H.3
  • 19
    • 0025966199 scopus 로고
    • Isolation and characterization ot cardiac amyloid in familial amyloid polyneuropathy type IV (Finnish): Relation of the amyloid protein to variant gelsolin
    • Maury CPJ. Isolation and characterization ot cardiac amyloid in familial amyloid polyneuropathy type IV (Finnish): relation of the amyloid protein to variant gelsolin. Biochim Biophys Acta 1990;1096:84-6.
    • (1990) Biochim Biophys Acta , vol.1096 , pp. 84-86
    • Maury, C.P.J.1
  • 20
    • 0025296194 scopus 로고
    • Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin
    • Haltia M, Ghiso J, Prelli F, et al. Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin. Am J Path 1992;136:1223-8.
    • (1992) Am J Path , vol.136 , pp. 1223-1228
    • Haltia, M.1    Ghiso, J.2    Prelli, F.3
  • 21
    • 0028914814 scopus 로고
    • Hemostatic, inflammatory and fibroblast responses are blunted in mice lacking gelsolin
    • Witke W, Sharpe AH, Hartwig JH, et al. Hemostatic, inflammatory and fibroblast responses are blunted in mice lacking gelsolin. Cell 1995;81:41-51.
    • (1995) Cell , vol.81 , pp. 41-51
    • Witke, W.1    Sharpe, A.H.2    Hartwig, J.H.3
  • 22
    • 0027533037 scopus 로고
    • Inherited amyloid polyneuropathy IV (gelsolin variant) an a Japanese family
    • Sanuda Y, Shimizu T, Nakase H, et al. Inherited amyloid polyneuropathy IV (gelsolin variant) an a Japanese family. Ann Neurol 1993;33:57-62.
    • (1993) Ann Neurol , vol.33 , pp. 57-62
    • Sanuda, Y.1    Shimizu, T.2    Nakase, H.3
  • 23
    • 0029063417 scopus 로고
    • Haplotype analysis in gelsolin-related amyloidosis reveals independent origin of identical mutation (G654-A) in Finland and Japan
    • Paunio T, Sunada Y, Kiuru S, et al. Haplotype analysis in gelsolin-related amyloidosis reveals independent origin of identical mutation (G654-A) in Finland and Japan. Human Mutation 1995;6:60-5.
    • (1995) Human Mutation , vol.6 , pp. 60-65
    • Paunio, T.1    Sunada, Y.2    Kiuru, S.3
  • 24
    • 0032012657 scopus 로고    scopus 로고
    • Gelsolin-related familial amyloidosis, Finnish type (FAF) and its variants found worldwide
    • Kiuru S. Gelsolin-related familial amyloidosis, Finnish type (FAF) and its variants found worldwide. Amyloid - Int J Exp Clin Invest 1998;5:55-66.
    • (1998) Amyloid - Int J Exp Clin Invest , vol.5 , pp. 55-66
    • Kiuru, S.1
  • 25
    • 0027980608 scopus 로고
    • Autonomic nervous system and cardiac involvement in familial amyloidosis, Finnish type (FAF)
    • Kiuru S, Matikainen E, Kupari M, et al. Autonomic nervous system and cardiac involvement in familial amyloidosis, Finnish type (FAF). J Neurol Sci 1994;126:40-8.
    • (1994) J Neurol Sci , vol.126 , pp. 40-48
    • Kiuru, S.1    Matikainen, E.2    Kupari, M.3
  • 26
    • 0027317623 scopus 로고
    • Homozygous familial amyloidosis, Finnish type: Demonstration of glomerular gelsolin-derived amyloid and non-amyloid tubular gelsolin
    • Maury CP. Homozygous familial amyloidosis, Finnish type: demonstration of glomerular gelsolin-derived amyloid and non-amyloid tubular gelsolin. Clin Nephrol 1993;40:53-6.
    • (1993) Clin Nephrol , vol.40 , pp. 53-56
    • Maury, C.P.1
  • 27
    • 2642664519 scopus 로고    scopus 로고
    • Heart transplantation for Finnish type familial systemic amyloidosis
    • Fernandez AL, Herreros JM, Monzonis AM, et al. Heart transplantation for Finnish type familial systemic amyloidosis. Scand Cardiovasc J 1997;31:357-9.
    • (1997) Scand Cardiovasc J , vol.31 , pp. 357-359
    • Fernandez, A.L.1    Herreros, J.M.2    Monzonis, A.M.3
  • 28
    • 0026006449 scopus 로고
    • Clinical and histopathologic studies of two families with lattice corneal dystrophy and familial systemic amyloidosis (Meretoja syndrome)
    • Stark T, Kenyon KR, Hanninen LA, et al. Clinical and histopathologic studies of two families with lattice corneal dystrophy and familial systemic amyloidosis (Meretoja syndrome). Ophthalmology 1991;98:1197-206.
    • (1991) Ophthalmology , vol.98 , pp. 1197-1206
    • Stark, T.1    Kenyon, K.R.2    Hanninen, L.A.3
  • 29
    • 0026495027 scopus 로고
    • Familial amyloidosis of the Finnish type (FAF). A clinical study of 30 patients
    • Kiuru S, Familial amyloidosis of the Finnish type (FAF). A clinical study of 30 patients. Acta Neurol Scand 1992;86: 346-53.
    • (1992) Acta Neurol Scand , vol.86 , pp. 346-353
    • Kiuru, S.1
  • 30
    • 0028202117 scopus 로고
    • Neuropathy in familial amyloidosis Finnish type (FAF): Electrophysiological studies
    • Kiuru S, Seppalainen AM. Neuropathy in familial amyloidosis Finnish type (FAF): electrophysiological studies. Muscle and Nerve 1994;17:299-304.
    • (1994) Muscle and Nerve , vol.17 , pp. 299-304
    • Kiuru, S.1    Seppalainen, A.M.2


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