메뉴 건너뛰기




Volumn 7, Issue 1, 2014, Pages

Genotype-first" approaches on a curious case of idiopathic progressive cognitive decline

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA N ACETYLGLUCOSAMINIDASE; DERMATAN SULFATE; HEPARAN SULFATE; ACETYLGLUCOSAMINIDASE; ALPHA-N-ACETYL-D-GLUCOSAMINIDASE;

EID: 84964316230     PISSN: None     EISSN: 17558794     Source Type: Journal    
DOI: 10.1186/s12920-014-0066-9     Document Type: Article
Times cited : (7)

References (59)
  • 1
    • 84884826911 scopus 로고    scopus 로고
    • The nextgeneration sequencing revolution and its impact on genomics
    • Koboldt DC, Steinberg KM, Larson DE, Wilson RK, Mardis ER: The nextgeneration sequencing revolution and its impact on genomics. Cell 2013, 155(1):27-38.
    • (2013) Cell , vol.155 , Issue.1 , pp. 27-38
    • Koboldt, D.C.1    Steinberg, K.M.2    Larson, D.E.3    Wilson, R.K.4    Mardis, E.R.5
  • 2
    • 53649106195 scopus 로고    scopus 로고
    • Next-generation DNA sequencing
    • Shendure J, Ji H: Next-generation DNA sequencing. Nat Biotechnol 2008, 26(10):1135-1145.
    • (2008) Nat Biotechnol , vol.26 , Issue.10 , pp. 1135-1145
    • Shendure, J.1    Ji, H.2
  • 3
    • 72849144434 scopus 로고    scopus 로고
    • Sequencing technologies -The next generation
    • Metzker ML: Sequencing technologies -The next generation. Nat Rev Genet 2010, 11(1):31-46.
    • (2010) Nat Rev Genet , vol.11 , Issue.1 , pp. 31-46
    • Metzker, M.L.1
  • 5
    • 77649263292 scopus 로고    scopus 로고
    • Population genetic inference from genomic sequence variation
    • Pool JE, Hellmann I, Jensen JD, Nielsen R: Population genetic inference from genomic sequence variation. Genome Res 2010, 20(3):291-300.
    • (2010) Genome Res , vol.20 , Issue.3 , pp. 291-300
    • Pool, J.E.1    Hellmann, I.2    Jensen, J.D.3    Nielsen, R.4
  • 6
    • 77957769655 scopus 로고    scopus 로고
    • High-Throughput sequencing and clinical microbiology: Progress, opportunities and challenges
    • Pallen MJ, Loman NJ, Penn CW: High-Throughput sequencing and clinical microbiology: progress, opportunities and challenges. Curr Opin Microbiol 2010, 13(5):625-631.
    • (2010) Curr Opin Microbiol , vol.13 , Issue.5 , pp. 625-631
    • Pallen, M.J.1    Loman, N.J.2    Penn, C.W.3
  • 7
    • 23944495106 scopus 로고    scopus 로고
    • Metagenomics for studying unculturable microorganisms: Cutting the Gordian knot
    • Schloss PD, Handelsman J: Metagenomics for studying unculturable microorganisms: cutting the Gordian knot. Genome Biol 2005, 6(8):229.
    • (2005) Genome Biol , vol.6 , Issue.8 , pp. 229
    • Schloss, P.D.1    Handelsman, J.2
  • 8
    • 84857520461 scopus 로고    scopus 로고
    • Development of high-density genetic maps for barley and wheat using a novel two-enzyme genotyping-by-sequencing approach
    • Poland JA, Brown PJ, Sorrells ME, Jannink JL: Development of high-density genetic maps for barley and wheat using a novel two-enzyme genotyping-by-sequencing approach. Plos One 2012, 7(2):e32253.
    • (2012) Plos One , vol.7 , Issue.2 , pp. e32253
    • Poland, J.A.1    Brown, P.J.2    Sorrells, M.E.3    Jannink, J.L.4
  • 9
    • 66249122107 scopus 로고    scopus 로고
    • Mapping genes for complex traits in domestic animals and their use in breeding programmes
    • Goddard ME, Hayes BJ: Mapping genes for complex traits in domestic animals and their use in breeding programmes. Nat Rev Genet 2009, 10(6):381-391.
    • (2009) Nat Rev Genet , vol.10 , Issue.6 , pp. 381-391
    • Goddard, M.E.1    Hayes, B.J.2
  • 10
    • 84858794353 scopus 로고    scopus 로고
    • Next generation sequencing in epigenetics: Insights and challenges
    • Meaburn E, Schulz R: Next generation sequencing in epigenetics: insights and challenges. Semin Cell Dev Biol 2012, 23(2):192-199.
    • (2012) Semin Cell Dev Biol , vol.23 , Issue.2 , pp. 192-199
    • Meaburn, E.1    Schulz, R.2
  • 11
    • 57749195712 scopus 로고    scopus 로고
    • RNA-Seq: A revolutionary tool for transcriptomics
    • Wang Z, Gerstein M, Snyder M: RNA-Seq: A revolutionary tool for transcriptomics. Nat Rev Genet 2009, 10(1):57-63.
    • (2009) Nat Rev Genet , vol.10 , Issue.1 , pp. 57-63
    • Wang, Z.1    Gerstein, M.2    Snyder, M.3
  • 12
    • 78751570979 scopus 로고    scopus 로고
    • RNA sequencing: Advances, challenges and opportunities
    • Ozsolak F, Milos PM: RNA sequencing: Advances, challenges and opportunities. Nat Rev Genet 2011, 12(2):87-98.
    • (2011) Nat Rev Genet , vol.12 , Issue.2 , pp. 87-98
    • Ozsolak, F.1    Milos, P.M.2
  • 14
    • 84893252645 scopus 로고    scopus 로고
    • The promise of whole-exome sequencing in medical genetics
    • Rabbani B, Tekin M, Mahdieh N: The promise of whole-exome sequencing in medical genetics. J Hum Genet 2014, 59(1):5-15.
    • (2014) J Hum Genet , vol.59 , Issue.1 , pp. 5-15
    • Rabbani, B.1    Tekin, M.2    Mahdieh, N.3
  • 15
    • 79953825909 scopus 로고    scopus 로고
    • Revisiting mendelian disorders through exome sequencing
    • Ku CS, Naidoo N, Pawitan Y: Revisiting Mendelian disorders through exome sequencing. Hum Genet 2011, 129(4):351-370.
    • (2011) Hum Genet , vol.129 , Issue.4 , pp. 351-370
    • Ku, C.S.1    Naidoo, N.2    Pawitan, Y.3
  • 23
    • 84927951101 scopus 로고    scopus 로고
    • Human genetics and clinical aspects of neurodevelopmental disorders
    • Edited by Mitchell K. Hoboken, NJ, USA: Wiley
    • Lyon GJ, O'Rawe J: Human genetics and clinical aspects of neurodevelopmental disorders. In The Genetics of Neurodevelopmental Disorders. Edited by Mitchell K. Hoboken, NJ, USA: Wiley; 2014.
    • (2014) The Genetics of Neuro Developmental Disorders
    • Lyon, G.J.1    O'Rawe, J.2
  • 24
    • 84866125965 scopus 로고    scopus 로고
    • Whole-genome and whole-exome sequencing in neurological diseases
    • Foo JN, Liu JJ, Tan EK: Whole-genome and whole-exome sequencing in neurological diseases. Nat Rev Neurol 2012, 8(9):508-517.
    • (2012) Nat Rev Neurol , vol.8 , Issue.9 , pp. 508-517
    • Foo, J.N.1    Liu, J.J.2    Tan, E.K.3
  • 28
    • 84896829795 scopus 로고    scopus 로고
    • A genotype-first approach to defining the subtypes of a complex disease
    • Stessman HA, Bernier R, Eichler EE: A genotype-first approach to defining the subtypes of a complex disease. Cell 2014, 156(5):872-877.
    • (2014) Cell , vol.156 , Issue.5 , pp. 872-877
    • Stessman, H.A.1    Bernier, R.2    Eichler, E.E.3
  • 29
    • 84864344347 scopus 로고    scopus 로고
    • Identifying disease mutations in genomic medicine settings: Current challenges and how to accelerate progress
    • Lyon GJ, Wang K: Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress. Genome Med 2012, 4(7):58.
    • (2012) Genome Med , vol.4 , Issue.7 , pp. 58
    • Lyon, G.J.1    Wang, K.2
  • 34
    • 77956534324 scopus 로고    scopus 로고
    • ANNOVAR: Functional annotation of genetic variants from high-Throughput sequencing data
    • Wang K, Li M, Hakonarson H: ANNOVAR: functional annotation of genetic variants from high-Throughput sequencing data. Nucleic Acids Res 2010, 38(16):e164.
    • (2010) Nucleic Acids Res , vol.38 , Issue.16 , pp. e164
    • Wang, K.1    Li, M.2    Hakonarson, H.3
  • 39
    • 39449115394 scopus 로고    scopus 로고
    • I-TASSER server for protein 3D structure prediction
    • Zhang Y: I-TASSER server for protein 3D structure prediction. BMC Bioinform 2008, 9:40.
    • (2008) BMC Bioinform , vol.9 , pp. 40
    • Zhang, Y.1
  • 40
    • 0035194407 scopus 로고    scopus 로고
    • A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease)
    • Voznyi YV, Keulemans JL, van Diggelen OP: A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease). J Inherit Metab Dis 2001, 24(6):675-680.
    • (2001) J Inherit Metab Dis , vol.24 , Issue.6 , pp. 675-680
    • Voznyi, Y.V.1    Keulemans, J.L.2    Van Diggelen, O.P.3
  • 42
    • 0021958406 scopus 로고
    • 4-Methylumbelliferyl alpha-N-Acetylglucosaminidase activity for diagnosis of Sanfilippo B disease
    • Marsh J, Fensom AH: 4-Methylumbelliferyl alpha-N-Acetylglucosaminidase activity for diagnosis of Sanfilippo B disease. Clin Genet 1985, 27(3):258-262.
    • (1985) Clin Genet , vol.27 , Issue.3 , pp. 258-262
    • Marsh, J.1    Fensom, A.H.2
  • 45
    • 0026872139 scopus 로고
    • Measuring urinary glycosaminoglycans in the presence of protein: An improved screening procedure for mucopolysaccharidoses based on dimethylmethylene blue
    • de Jong JG, Wevers RA, Liebrand-van Sambeek R: Measuring urinary glycosaminoglycans in the presence of protein: An improved screening procedure for mucopolysaccharidoses based on dimethylmethylene blue. Clin Chem 1992, 38(6):803-807.
    • (1992) Clin Chem , vol.38 , Issue.6 , pp. 803-807
    • De Jong, J.G.1    Wevers, R.A.2    Liebrand-Van, S.R.3
  • 46
    • 84989335110 scopus 로고    scopus 로고
    • Quantitative measuring urinary glycosaminoglycan by dimethylmethylene-Tris spectrophotometric method
    • Zhao XY, Huang YL, Li SY, Lin WC, Zhou ZH, Liu L: Quantitative measuring urinary glycosaminoglycan by dimethylmethylene-Tris spectrophotometric method. Chin J Child Health Care 2010, 11:885-888.
    • (2010) Chin J Child Health Care , vol.11 , pp. 885-888
    • Zhao, X.Y.1    Huang, Y.L.2    Li, S.Y.3    Lin, W.C.4    Zhou, Z.H.5    Liu, L.6
  • 48
    • 79960763462 scopus 로고    scopus 로고
    • DbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions
    • Liu X, Jian X, Boerwinkle E: dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Hum Mutat 2011, 32(8):894-899.
    • (2011) Hum Mutat , vol.32 , Issue.8 , pp. 894-899
    • Liu, X.1    Jian, X.2    Boerwinkle, E.3
  • 50
    • 0018400263 scopus 로고
    • Sanfilippo B syndrome (MPS III B): Mild and severe forms within the same sibship
    • Andria G, Di Natale P, Del Giudice E, Strisciuglio P, Murino P: Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship. Clin Genet 1979, 15(6):500-504.
    • (1979) Clin Genet , vol.15 , Issue.6 , pp. 500-504
    • Andria, G.1    Di Natale, P.2    Del Giudice, E.3    Strisciuglio, P.4    Murino, P.5
  • 51
    • 23944490648 scopus 로고    scopus 로고
    • Sanfilippo type B syndrome: Five patients with an R565P homozygous mutation in the alpha-N-Acetylglucosaminidase gene from the Okinawa islands in Japan
    • Chinen Y, Tohma T, Izumikawa Y, Uehara H, Ohta T: Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-Acetylglucosaminidase gene from the Okinawa islands in Japan. J Hum Genet 2005, 50(7):357-359.
    • (2005) J Hum Genet , vol.50 , Issue.7 , pp. 357-359
    • Chinen, Y.1    Tohma, T.2    Izumikawa, Y.3    Uehara, H.4    Ohta, T.5
  • 52
    • 0019406297 scopus 로고
    • Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)
    • van de Kamp JJ, Niermeijer MF, von Figura K, Giesberts MA: Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C). Clin Genet 1981, 20(2):152-160.
    • (1981) Clin Genet , vol.20 , Issue.2 , pp. 152-160
    • Van De Kamp, J.J.1    Niermeijer, M.F.2    Von Figura, K.3    Giesberts, M.A.4
  • 53
    • 84891837451 scopus 로고    scopus 로고
    • The Human gene mutation database: Building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
    • Stenson PD, Mort M, Ball EV, Shaw K, Phillips A, Cooper DN: The Human Gene Mutation Database: Building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet 2014, 133(1):1-9.
    • (2014) Hum Genet , vol.133 , Issue.1 , pp. 1-9
    • Stenson, P.D.1    Mort, M.2    Ball, E.V.3    Shaw, K.4    Phillips, A.5    Cooper, D.N.6
  • 54
    • 0032953020 scopus 로고    scopus 로고
    • Sanfilippo type B syndrome (mucopolysaccharidosis III B): Allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes
    • Weber B, Guo XH, Kleijer WJ, van de Kamp JJ, Poorthuis BJ, Hopwood JJ: Sanfilippo type B syndrome (mucopolysaccharidosis III B): Allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. Eur J Hum Genet 1999, 7(1):34-44.
    • (1999) Eur J Hum Genet , vol.7 , Issue.1 , pp. 34-44
    • Weber, B.1    Guo, X.H.2    Kleijer, W.J.3    Van De Kamp, J.J.4    Poorthuis, B.J.5    Hopwood, J.J.6
  • 55
    • 19244379262 scopus 로고    scopus 로고
    • Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB)
    • Lee-Chen GJ, Lin SP, Lin SZ, Chuang CK, Hsiao KT, Huang CF, Lien WC: Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). J Med Genet 2002, 39(2):E3.
    • (2002) J Med Genet , vol.39 , Issue.2 , pp. E3
    • Lee-Chen, G.J.1    Lin, S.P.2    Lin, S.Z.3    Chuang, C.K.4    Hsiao, K.T.5    Huang, C.F.6    Lien, W.C.7
  • 56
    • 0344033744 scopus 로고    scopus 로고
    • Incidence of the mucopolysaccharidoses in Western Australia
    • Nelson J, Crowhurst J, Carey B, Greed L: Incidence of the mucopolysaccharidoses in Western Australia. Am J Med Genet A 2003, 123A(3):310-313.
    • (2003) Am J Med Genet A , vol.123 A , Issue.3 , pp. 310-313
    • Nelson, J.1    Crowhurst, J.2    Carey, B.3    Greed, L.4
  • 57
    • 0033585476 scopus 로고    scopus 로고
    • Prevalence of lysosomal storage disorders
    • Meikle PJ, Hopwood JJ, Clague AE, Carey WF: Prevalence of lysosomal storage disorders. JAMA 1999, 281(3):249-254.
    • (1999) JAMA , vol.281 , Issue.3 , pp. 249-254
    • Meikle, P.J.1    Hopwood, J.J.2    Clague, A.E.3    Carey, W.F.4
  • 58
    • 0031447880 scopus 로고    scopus 로고
    • Incidence of the mucopolysaccharidoses in Northern Ireland
    • Nelson J: Incidence of the mucopolysaccharidoses in Northern Ireland. Hum Genet 1997, 101(3):355-358.
    • (1997) Hum Genet , vol.101 , Issue.3 , pp. 355-358
    • Nelson, J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.