메뉴 건너뛰기




Volumn 62, Issue 2, 1998, Pages 362-372

Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID PRECURSOR PROTEIN; DNA;

EID: 17344367028     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301722     Document Type: Article
Times cited : (44)

References (73)
  • 1
    • 0018259771 scopus 로고
    • Hereditary polycystic osteodysplasia with progressive dementia in Sweden
    • Adolfsson R, Forsell Å, Johansson G (1978) Hereditary polycystic osteodysplasia with progressive dementia in Sweden. Lancet 1:1209-1210
    • (1978) Lancet , vol.1 , pp. 1209-1210
    • Adolfsson, R.1    Forsell, Å.2    Johansson, G.3
  • 3
    • 0020692210 scopus 로고
    • Lipomembranous polycystic osteodysplasia (brain, bone, and fat disease): A genetic cause of presenile dementia
    • Bird TD, Koerker RM, Leaird BJ, Vlcek BW, Thorning DR (1983) Lipomembranous polycystic osteodysplasia (brain, bone, and fat disease): a genetic cause of presenile dementia. Neurology 33:81-86
    • (1983) Neurology , vol.33 , pp. 81-86
    • Bird, T.D.1    Koerker, R.M.2    Leaird, B.J.3    Vlcek, B.W.4    Thorning, D.R.5
  • 4
    • 0017148259 scopus 로고
    • A general method for isolation of high molecular weight DNA from eukaryotes
    • Blin N, Stafford DW (1976) A general method for isolation of high molecular weight DNA from eukaryotes. Nucleic Acids Res 3:2303-2308
    • (1976) Nucleic Acids Res , vol.3 , pp. 2303-2308
    • Blin, N.1    Stafford, D.W.2
  • 6
    • 0027507885 scopus 로고
    • Disease gene mapping in isolated human populations: The example of Finland
    • de la Chapelle A (1993) Disease gene mapping in isolated human populations: the example of Finland. J Med Genet 30: 857-865
    • (1993) J Med Genet , vol.30 , pp. 857-865
    • De La Chapelle, A.1
  • 7
    • 0027311861 scopus 로고
    • The expanding clinical spectrum of mitochondrial diseases
    • De Vivo DC (1993) The expanding clinical spectrum of mitochondrial diseases. Brain Dev 15:1-22
    • (1993) Brain Dev , vol.15 , pp. 1-22
    • De Vivo, D.C.1
  • 10
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1    Fauré, S.2    Fizames, C.3    Samson, D.4    Drouot, N.5    Vignal, A.6    Millasseau, P.7
  • 11
    • 0021091383 scopus 로고
    • Lipomembranous osteodysplasia: A case report
    • Edvardsen P, Halvorsen TB, Nesse O (1983) Lipomembranous osteodysplasia: a case report. Int Orthop 7:99-103
    • (1983) Int Orthop , vol.7 , pp. 99-103
    • Edvardsen, P.1    Halvorsen, T.B.2    Nesse, O.3
  • 13
    • 0023235253 scopus 로고
    • Haplotype relative risks: An easy reliable way to construct a proper control sample for risk calculations
    • Falk CT, Rubinstein P (1987) Haplotype relative risks: an easy reliable way to construct a proper control sample for risk calculations. Ann Hum Genet 51:227-233
    • (1987) Ann Hum Genet , vol.51 , pp. 227-233
    • Falk, C.T.1    Rubinstein, P.2
  • 14
    • 0027487271 scopus 로고
    • Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations
    • Glavac D, Dean M (1993) Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations. Hum Mutat 2:404-414
    • (1993) Hum Mutat , vol.2 , pp. 404-414
    • Glavac, D.1    Dean, M.2
  • 15
    • 0015443132 scopus 로고
    • Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia
    • Hakola HPA (1972) Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia. Acta Psychiatr Scand Suppl 232:1-173
    • (1972) Acta Psychiatr Scand Suppl , vol.232 , pp. 1-173
    • Hakola, H.P.A.1
  • 16
    • 85030304104 scopus 로고
    • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy): A neuropsychiatric follow-up study
    • monograph 17. Foundation for Psychiatric Research in Finland, Helsinki
    • _ (1990) Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy): a neuropsychiatric follow-up study. Psychiatria Fennica, monograph 17. Foundation for Psychiatric Research in Finland, Helsinki
    • (1990) Psychiatria Fennica
  • 17
    • 0027445275 scopus 로고
    • Neuropsychiatric and brain CT findings in polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
    • Hakola HPA, Puranen M (1993) Neuropsychiatric and brain CT findings in polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. Acta Neurol Scand 88: 370-375
    • (1993) Acta Neurol Scand , vol.88 , pp. 370-375
    • Hakola, H.P.A.1    Puranen, M.2
  • 22
    • 0028143269 scopus 로고
    • Analysis of changes in DNA sequence copy number by comparative genomic hybridization in archival paraffin-embedded tumor samples
    • Isola J, DeVries S, Chu L, Ghazvini S, Waldman F (1994) Analysis of changes in DNA sequence copy number by comparative genomic hybridization in archival paraffin-embedded tumor samples. Am J Pathol 145:1301-1308
    • (1994) Am J Pathol , vol.145 , pp. 1301-1308
    • Isola, J.1    DeVries, S.2    Chu, L.3    Ghazvini, S.4    Waldman, F.5
  • 25
    • 16044362074 scopus 로고    scopus 로고
    • Notch3 mutations in CA-DASIL, a hereditary adult-onset condition causing stroke and dementia
    • Joutel A, Corpechot C, Ducros A, Vahedi K, Chabriat H, Mouton P, Alamowitch S, et al (1996) Notch3 mutations in CA-DASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 383:707-710
    • (1996) Nature , vol.383 , pp. 707-710
    • Joutel, A.1    Corpechot, C.2    Ducros, A.3    Vahedi, K.4    Chabriat, H.5    Mouton, P.6    Alamowitch, S.7
  • 26
    • 0028334574 scopus 로고
    • Vascular changes and blood-brain barrier damage in the pathogenesis of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy)
    • Kalimo H, Sourander P, Järvi O, Hakola P (1994) Vascular changes and blood-brain barrier damage in the pathogenesis of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy). Acta Neurol Scand 89:353-361
    • (1994) Acta Neurol Scand , vol.89 , pp. 353-361
    • Kalimo, H.1    Sourander, P.2    Järvi, O.3    Hakola, P.4
  • 27
    • 0027033060 scopus 로고
    • Single-strand conformation polymorphism (SSCP) analysis applied to the diagnosis of acute intermittent porphyria
    • Kauppinen R (1992) Single-strand conformation polymorphism (SSCP) analysis applied to the diagnosis of acute intermittent porphyria. Mol Cell Probes 6:527-530
    • (1992) Mol Cell Probes , vol.6 , pp. 527-530
    • Kauppinen, R.1
  • 30
    • 0024372438 scopus 로고
    • Nasu-Hakola disease (membranous lipodystrophy): Clinical, histopathological and biochemical studies of three cases
    • Kitajima I, Kuriyama M, Usuki F, Izumo S, Osame M, Suganuma T, Murata F, et al (1989) Nasu-Hakola disease (membranous lipodystrophy): clinical, histopathological and biochemical studies of three cases. J Neurol Sci 91: 35-52
    • (1989) J Neurol Sci , vol.91 , pp. 35-52
    • Kitajima, I.1    Kuriyama, M.2    Usuki, F.3    Izumo, S.4    Osame, M.5    Suganuma, T.6    Murata, F.7
  • 32
    • 0021344005 scopus 로고
    • Easy calculations of lod scores and genetic risks on small computers
    • Lathrop GM, Lalouel JM (1984) Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460-465
    • (1984) Am J Hum Genet , vol.36 , pp. 460-465
    • Lathrop, G.M.1    Lalouel, J.M.2
  • 34
    • 0022646961 scopus 로고
    • Construction of human linkage maps: Likelihood calculations for multilocus linkage analysis
    • Lathrop GM, Lalouel JM, White RL (1986) Construction of human linkage maps: likelihood calculations for multilocus linkage analysis. Genet Epidemiol 3:39-52
    • (1986) Genet Epidemiol , vol.3 , pp. 39-52
    • Lathrop, G.M.1    Lalouel, J.M.2    White, R.L.3
  • 37
    • 0020046053 scopus 로고
    • Radiologic bone changes of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
    • Mäkelä P, Järvi O, Hakola P, Virtama P (1982) Radiologic bone changes of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. Skeletal Radiol 8: 51-54
    • (1982) Skeletal Radiol , vol.8 , pp. 51-54
    • Mäkelä, P.1    Järvi, O.2    Hakola, P.3    Virtama, P.4
  • 39
    • 0028863565 scopus 로고
    • Fine mapping and haplotype analysis of the locus for congenital nephrotic syndrome on chromosome 19q13.1
    • Männikkö M, Kestilä M, Holmberg C, Norio R, Ryynänen M, Olsen A, Peltonen L, et al (1995) Fine mapping and haplotype analysis of the locus for congenital nephrotic syndrome on chromosome 19q13.1. Am J Hum Genet 57: 1377-1383
    • (1995) Am J Hum Genet , vol.57 , pp. 1377-1383
    • Männikkö, M.1    Kestilä, M.2    Holmberg, C.3    Norio, R.4    Ryynänen, M.5    Olsen, A.6    Peltonen, L.7
  • 41
    • 0028828135 scopus 로고
    • Perspectives of identity by descent (IBD) mapping in founder populations
    • te Meerman GJ, Meulen MA, van der Sandkuijl LA (1995) Perspectives of identity by descent (IBD) mapping in founder populations. Clin Exp Allergy 25, Suppl 2:97-102
    • (1995) Clin Exp Allergy , vol.25 , Issue.2 SUPPL. , pp. 97-102
    • Te Meerman, G.J.1    Meulen, M.A.2    Van Der Sandkuijl, L.A.3
  • 42
    • 0031181006 scopus 로고    scopus 로고
    • Clinical advantages in degenerative dementias
    • Miller BL (1997) Clinical advantages in degenerative dementias. Br J Psychiatry 171:1-3
    • (1997) Br J Psychiatry , vol.171 , pp. 1-3
    • Miller, B.L.1
  • 43
    • 0015736566 scopus 로고
    • A lipid metabolic disease - "membranous lipodystrophy": An autopsy case demonstrating numerous peculiar membrane-structures composed of compound lipid in bone and bone marrow and various adipose tissues
    • Nasu T, Tsukahara Y, Terayama K (1973) A lipid metabolic disease - "membranous lipodystrophy": an autopsy case demonstrating numerous peculiar membrane-structures composed of compound lipid in bone and bone marrow and various adipose tissues. Acta Pathol Jpn 23:539-558
    • (1973) Acta Pathol Jpn , vol.23 , pp. 539-558
    • Nasu, T.1    Tsukahara, Y.2    Terayama, K.3
  • 44
    • 0028949919 scopus 로고
    • Random search for shared chromosomal regions in four affected individuals: The assignment of a new hereditary ataxia locus
    • Nikali K, Suomalainen A, Terwilliger J, Koskinen T, Weissenbach J, Peltonen L (1995) Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus. Am J Hum Genet 56:1088-1095
    • (1995) Am J Hum Genet , vol.56 , pp. 1088-1095
    • Nikali, K.1    Suomalainen, A.2    Terwilliger, J.3    Koskinen, T.4    Weissenbach, J.5    Peltonen, L.6
  • 45
    • 0015858194 scopus 로고
    • Hereditary diseases in Finland: Rare flora in rare soil
    • Norio R, Nevanlinna HR, Perheentupa J (1973) Hereditary diseases in Finland: rare flora in rare soil. Ann Clin Res 5: 109-141
    • (1973) Ann Clin Res , vol.5 , pp. 109-141
    • Norio, R.1    Nevanlinna, H.R.2    Perheentupa, J.3
  • 46
    • 0025755850 scopus 로고
    • Population studies in northern Sweden. XVII. Estimates of Finnish and Saamish influence
    • Nylander P-O, Beckman L (1991) Population studies in northern Sweden. XVII. Estimates of Finnish and Saamish influence. Hum Hered 41:157-167
    • (1991) Hum Hered , vol.41 , pp. 157-167
    • Nylander, P.-O.1    Beckman, L.2
  • 47
    • 0030447709 scopus 로고    scopus 로고
    • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLO-SL): A genealogical study of Swedish families of probable Finnish background
    • Nylander P-O, Drugge U, Holmgren G, Adolfsson R (1996) Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLO-SL): a genealogical study of Swedish families of probable Finnish background. Clin Genet 50:353-357
    • (1996) Clin Genet , vol.50 , pp. 353-357
    • Nylander, P.-O.1    Drugge, U.2    Holmgren, G.3    Adolfsson, R.4
  • 48
    • 0007704973 scopus 로고
    • Nucleotide sequence of a cDNA coding for the small subunit of human calcium-dependent protease
    • Ohno S, Emori Y, Suzuki K (1986) Nucleotide sequence of a cDNA coding for the small subunit of human calcium-dependent protease. Nucleic Acids Res 14:5559
    • (1986) Nucleic Acids Res , vol.14 , pp. 5559
    • Ohno, S.1    Emori, Y.2    Suzuki, K.3
  • 49
    • 0024756969 scopus 로고
    • Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
    • Orita M, Suzuki Y, Sekiya T, Hayashi K (1989) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5: 874-879
    • (1989) Genomics , vol.5 , pp. 874-879
    • Orita, M.1    Suzuki, Y.2    Sekiya, T.3    Hayashi, K.4
  • 50
    • 0022919732 scopus 로고
    • Linkage probability and its approximate confidence interval under possible heterogeneity
    • Ott J (1986) Linkage probability and its approximate confidence interval under possible heterogeneity. Genet Epidemiol Suppl 1:251-257
    • (1986) Genet Epidemiol Suppl , vol.1 , pp. 251-257
    • Ott, J.1
  • 51
    • 17344371074 scopus 로고
    • Penetrance
    • Johns Hopkins University Press, Baltimore
    • _ (1991) Penetrance. In: Analysis of human genetic linkage, 2d ed. Johns Hopkins University Press, Baltimore, pp 146-164
    • (1991) Analysis of Human Genetic Linkage, 2d Ed. , pp. 146-164
  • 53
    • 0029422556 scopus 로고
    • Messages from an isolate: Lessons from the Finnish gene pool
    • Peltonen L, Pekkarinen P, Aaltonen J (1995) Messages from an isolate: lessons from the Finnish gene pool. Biol Chem Hoppe Seyler 376:697-704
    • (1995) Biol Chem Hoppe Seyler , vol.376 , pp. 697-704
    • Peltonen, L.1    Pekkarinen, P.2    Aaltonen, J.3
  • 54
    • 0026846923 scopus 로고
    • A case of membranous lipodystrophy with skeletal involvement
    • Preziuso L, Muncibi P, Aglietti FG (1992) A case of membranous lipodystrophy with skeletal involvement. Chir Organi Mov 77:205-211
    • (1992) Chir Organi Mov , vol.77 , pp. 205-211
    • Preziuso, L.1    Muncibi, P.2    Aglietti, F.G.3
  • 56
    • 0028865860 scopus 로고
    • A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps
    • Sheffield VC, Weber JL, Buetow KH, Murray JC, Even DA, Wiles K, Gastier JM, et al (1995) A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps. Hum Mol Genet 4:1837-1844
    • (1995) Hum Mol Genet , vol.4 , pp. 1837-1844
    • Sheffield, V.C.1    Weber, J.L.2    Buetow, K.H.3    Murray, J.C.4    Even, D.A.5    Wiles, K.6    Gastier, J.M.7
  • 57
    • 6844258652 scopus 로고
    • Neuropathological aspects of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy)
    • Kyoto, September 19-20. Japanese Society of Neuropathology
    • Sourander P, Järvi O, Hakola P, Kalimo H, Nevalainen T (1981) Neuropathological aspects of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy). In: International symposium on the leukodystrophy and allied diseases, Kyoto, September 19-20. Japanese Society of Neuropathology, pp 87-101
    • (1981) International Symposium on the Leukodystrophy and Allied Diseases , pp. 87-101
    • Sourander, P.1    Järvi, O.2    Hakola, P.3    Kalimo, H.4    Nevalainen, T.5
  • 58
    • 0026659751 scopus 로고
    • Membranous lipodystrophy: Clinical and eloctrophysiological observations in the first South African case
    • Stübgen JP, Lotz BP (1992) Membranous lipodystrophy: clinical and eloctrophysiological observations in the first South African case. S Afr Med J 81:620-622
    • (1992) S Afr Med J , vol.81 , pp. 620-622
    • Stübgen, J.P.1    Lotz, B.P.2
  • 61
    • 0001143275 scopus 로고
    • Two cases of cystic bone disease with peculiar features
    • Terayama K (1961) Two cases of cystic bone disease with peculiar features. J Jpn Orthop Assoc 35:626
    • (1961) J Jpn Orthop Assoc , vol.35 , pp. 626
    • Terayama, K.1
  • 62
    • 0028968329 scopus 로고
    • A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci
    • Tenvilliger JD (1995) A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci. Am J Hum Genet 56: 777-787
    • (1995) Am J Hum Genet , vol.56 , pp. 777-787
    • Tenvilliger, J.D.1
  • 63
    • 0038854380 scopus 로고    scopus 로고
    • Reply to Sham et al
    • _ (1996) Reply to Sham et al. Am J Hum Genet 58: 1095-1096
    • (1996) Am J Hum Genet , vol.58 , pp. 1095-1096
  • 64
    • 0026494911 scopus 로고
    • A haplotype-based "haplotype relative risk" approach to detecting allelic associations
    • Tenvilliger JD, Ott J (1992) A haplotype-based "haplotype relative risk" approach to detecting allelic associations. Hum Hered 42:337-346
    • (1992) Hum Hered , vol.42 , pp. 337-346
    • Tenvilliger, J.D.1    Ott, J.2
  • 66
    • 0027262396 scopus 로고
    • Identification of calcium-activated neutral protease activity and regulation by parathyroid hormone in mouse osteoblastic cells
    • Tram KK-T, Spencer MJ, Murray SS, Lee DBN, Tidball JG, Murray EJB (1993) Identification of calcium-activated neutral protease activity and regulation by parathyroid hormone in mouse osteoblastic cells. Biochem Mol Biol Int 29: 981-987
    • (1993) Biochem Mol Biol Int , vol.29 , pp. 981-987
    • Tram, K.K.-T.1    Spencer, M.J.2    Murray, S.S.3    Lee, D.B.N.4    Tidball, J.G.5    Murray, E.J.B.6
  • 67
    • 17344371960 scopus 로고
    • Bone radiography of PLO-SL cases
    • monograph 17. Foundation for Psychiatric Research in Finland, Helsinki
    • Virtama PEJ, Hakola MT, Hakola HPA (1990) Bone radiography of PLO-SL cases. Psychiatria Fennica, monograph 17. Foundation for Psychiatric Research in Finland, Helsinki
    • (1990) Psychiatria Fennica
    • Virtama, P.E.J.1    Hakola, M.T.2    Hakola, H.P.A.3
  • 68
    • 0027499514 scopus 로고
    • The amyloid precursor-like protein (APLP) gene maps to the long arm of human chromosome 19
    • Wasco W, Brook JD, Tanzi RE (1993) The amyloid precursor-like protein (APLP) gene maps to the long arm of human chromosome 19. Genomics 15:237-239
    • (1993) Genomics , vol.15 , pp. 237-239
    • Wasco, W.1    Brook, J.D.2    Tanzi, R.E.3
  • 69
    • 0026442891 scopus 로고
    • Identification of a mouse brain cDNA that encodes a protein related to the Alzheimer disease-associated amyloid β protein precursor
    • Wasco W, Bupp K, Magendantz M, Gusella JF, Tanzi RE, Solomon F (1992) Identification of a mouse brain cDNA that encodes a protein related to the Alzheimer disease-associated amyloid β protein precursor. Proc Natl Acad Sci USA 89:10758-10762
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 10758-10762
    • Wasco, W.1    Bupp, K.2    Magendantz, M.3    Gusella, J.F.4    Tanzi, R.E.5    Solomon, F.6
  • 70
    • 9044220964 scopus 로고    scopus 로고
    • Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21
    • Wijker M, Wszolek ZK, Wolters ECH, Rooimans MA, Pals G, Pfeiffer RF, Lynch T, et al (1996) Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21. Hum Mol Genet 5:151-154
    • (1996) Hum Mol Genet , vol.5 , pp. 151-154
    • Wijker, M.1    Wszolek, Z.K.2    Wolters, E.C.H.3    Rooimans, M.A.4    Pals, G.5    Pfeiffer, R.F.6    Lynch, T.7
  • 71
    • 0028073692 scopus 로고
    • Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22
    • Wilhelmsen KC, Lynch T, Pavlou E, Higgins M, Nygaard TG (1994) Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22. Am J Hum Genet 55:1159-1165
    • (1994) Am J Hum Genet , vol.55 , pp. 1159-1165
    • Wilhelmsen, K.C.1    Lynch, T.2    Pavlou, E.3    Higgins, M.4    Nygaard, T.G.5
  • 72
    • 0017873717 scopus 로고
    • Membranous lipodystrophy of bone
    • Wood C (1978) Membranous lipodystrophy of bone. Arch Pathol Lab Med 102:22-27
    • (1978) Arch Pathol Lab Med , vol.102 , pp. 22-27
    • Wood, C.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.