메뉴 건너뛰기




Volumn 16, Issue 6, 2013, Pages 313-321

Biomarkers in rare diseases

Author keywords

Biomarkers; Diagnostics; Genetics; Genomics; Mendelian; Omics; Proteomics; Rare diseases; Therapies; Transcriptomics

Indexed keywords

BIOLOGICAL MARKER; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DYSTROPHIN; GELATINASE B; MICRORNA; TENASCIN; TISSUE INHIBITOR OF METALLOPROTEINASE 1; TRANSFORMING GROWTH FACTOR BETA;

EID: 84899907896     PISSN: 16624246     EISSN: 16628063     Source Type: Journal    
DOI: 10.1159/000355938     Document Type: Article
Times cited : (20)

References (26)
  • 1
    • 85042024185 scopus 로고    scopus 로고
    • Rare' and 'ultra rare diseases
    • Beck M: 'Rare' and 'Ultra Rare Diseases'. Outlook Develop Drugs 2012; 1:e107.
    • (2012) Outlook Develop Drugs , vol.1 , pp. e107
    • Beck, M.1
  • 2
    • 79958189546 scopus 로고    scopus 로고
    • From molecules to behavior: Lessons from the study of rare genetic disorders
    • Roubertoux PL, de Vries PJ: From molecules to behavior: lessons from the study of rare genetic disorders. Behav Genet 2011; 41: 341-348.
    • (2011) Behav Genet , vol.41 , pp. 341-348
    • Roubertoux, P.L.1    De Vries, P.J.2
  • 3
    • 2342583527 scopus 로고    scopus 로고
    • Searching for the hereditary causes of renal-cell carcinoma
    • Pavlovich CP, Schmidt LS: Searching for the hereditary causes of renal-cell carcinoma. Nat Rev Cancer 2004; 4: 381-393.
    • (2004) Nat Rev Cancer , vol.4 , pp. 381-393
    • Pavlovich, C.P.1    Schmidt, L.S.2
  • 4
    • 0035100888 scopus 로고    scopus 로고
    • Biomarkers and surrogate endpoints: Preferred definitions and conceptual framework
    • Biomarkers Definitions Working Group: Biomarkers and surrogate endpoints: preferred definitions and conceptual framework. Clin Pharmacol Ther 2001; 69: 89-95.
    • (2001) Clin Pharmacol Ther , vol.69 , pp. 89-95
    • Biomarkers Definitions Working Group1
  • 6
    • 77449087318 scopus 로고    scopus 로고
    • Personalised genetic intervention for Duchenne muscular dystrophy: Antisense oligomers and exon skipping
    • Mitrpant C, Fletcher S, Wilton SD: Personalised genetic intervention for Duchenne muscular dystrophy: antisense oligomers and exon skipping. Curr Mol Pharmacol 2009; 2: 110-121.
    • (2009) Curr Mol Pharmacol , vol.2 , pp. 110-121
    • Mitrpant, C.1    Fletcher, S.2    Wilton, S.D.3
  • 7
    • 79955768389 scopus 로고    scopus 로고
    • Pharmacogenetics, pharmacogenomics, and individualized medicine
    • Ma Q, Lu AY: Pharmacogenetics, pharmacogenomics, and individualized medicine. Pharmacol Rev 2011; 63: 437-459.
    • (2011) Pharmacol Rev , vol.63 , pp. 437-459
    • Ma, Q.1    Lu, A.Y.2
  • 13
    • 84878483932 scopus 로고    scopus 로고
    • Elevated serum autoantibody against high mobility group box 1 as a potent surrogate biomarker for amyotrophic lateral sclerosis
    • Hwang CS, Liu GT, Chang MD, Liao IL, Chang HT: Elevated serum autoantibody against high mobility group box 1 as a potent surrogate biomarker for amyotrophic lateral sclerosis. Neurobiol Dis 2013; 58: 13-18.
    • (2013) Neurobiol Dis , vol.58 , pp. 13-18
    • Hwang, C.S.1    Liu, G.T.2    Chang, M.D.3    Liao, I.L.4    Chang, H.T.5
  • 16
    • 84863109408 scopus 로고    scopus 로고
    • Proteomic profiling identifies haptoglobin as a potential serum biomarker for steroid-resistant nephrotic syndrome
    • Wen Q, Huang LT, Luo N, Wang YT, Li XY, Mao HP, Zhang L, Dong XQ, Yu XQ: Proteomic profiling identifies haptoglobin as a potential serum biomarker for steroid-resistant nephrotic syndrome. Am J Nephrol 2012; 36: 105-113.
    • (2012) Am J Nephrol , vol.36 , pp. 105-113
    • Wen, Q.1    Huang, L.T.2    Luo, N.3    Wang, Y.T.4    Li, X.Y.5    Mao, H.P.6    Zhang, L.7    Dong, X.Q.8    Yu, X.Q.9
  • 17
    • 79953319448 scopus 로고    scopus 로고
    • Identification of muscle-specific microRNAs in serum of muscular dystrophy animal models: Promising novel blood-based markers for muscular dystrophy
    • Mizuno H, Nakamura A, Aoki Y, Ito N, Kishi S, Yamamoto K, Sekiguchi M, Takeda S, Hashido K: Identification of muscle-specific microRNAs in serum of muscular dystrophy animal models: promising novel blood-based markers for muscular dystrophy. PLoS One 2011; 6:e18388.
    • (2011) PLoS One , vol.6 , pp. e18388
    • Mizuno, H.1    Nakamura, A.2    Aoki, Y.3    Ito, N.4    Kishi, S.5    Yamamoto, K.6    Sekiguchi, M.7    Takeda, S.8    Hashido, K.9
  • 22
    • 79959297945 scopus 로고    scopus 로고
    • Circulating tenascin-C levels in patients with dilated cardiomyopathy in the course of Emery-Dreifuss muscular dystrophy
    • Niebroj-Dobosz I, Madej-Pilarczyk A, Marchel M, Sokołowska B, Hausmanowa-Petrusewicz I: Circulating tenascin-C levels in patients with dilated cardiomyopathy in the course of Emery-Dreifuss muscular dystrophy. Clin Chim Acta 2011; 412: 1533-1538.
    • (2011) Clin Chim Acta , vol.412 , pp. 1533-1538
    • Niebroj-Dobosz, I.1    Madej-Pilarczyk, A.2    Marchel, M.3    Sokołowska, B.4    Hausmanowa-Petrusewicz, I.5
  • 26
    • 84861129090 scopus 로고    scopus 로고
    • Novel approach to meta-analysis of microarray datasets reveals muscle remodeling-related drug targets and biomarkers in Duchenne muscular dystrophy
    • Kotelnikova E, Shkrob MA, Pyatnitskiy MA, Ferlini A, Daraselia N: Novel approach to meta-analysis of microarray datasets reveals muscle remodeling-related drug targets and biomarkers in Duchenne muscular dystrophy. PLoS Comput Biol 2012; 8:e1002365.
    • (2012) PLoS Comput Biol , vol.8 , pp. e1002365
    • Kotelnikova, E.1    Shkrob, M.A.2    Pyatnitskiy, M.A.3    Ferlini, A.4    Daraselia, N.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.