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Volumn 63, Issue 5, 2015, Pages 1288-1293

Next-generation sequencing: Application of a novel platform to analyze atypical iron disorders

Author keywords

Anemia; Hemochromatosis; Iron overload; Next generation sequencing; Transferrin receptor 2

Indexed keywords

CALNEXIN; HEMOJUVELIN; HEPHAESTIN; HEPHAESTIN LIKE 1; TRANSFERRIN RECEPTOR 2; UNCLASSIFIED DRUG; DNA; IRON; TRANSFERRIN RECEPTOR;

EID: 84945457566     PISSN: 01688278     EISSN: 16000641     Source Type: Journal    
DOI: 10.1016/j.jhep.2015.06.027     Document Type: Article
Times cited : (25)

References (15)
  • 1
    • 84875700912 scopus 로고    scopus 로고
    • Evaluation of targeted next-generation sequencing-based preimplantation genetic diagnosis of monogenic disease
    • N.R. Treff, A. Fedick, X. Tao, B. Devkota, D. Taylor, and R.T. Scott Jr. Evaluation of targeted next-generation sequencing-based preimplantation genetic diagnosis of monogenic disease Fertil Steril 99 2013 e1376
    • (2013) Fertil Steril , vol.99 , pp. e1376
    • Treff, N.R.1    Fedick, A.2    Tao, X.3    Devkota, B.4    Taylor, D.5    Scott, R.T.6
  • 2
    • 84879437680 scopus 로고    scopus 로고
    • Iron storage disease in Asia-Pacific populations: The importance of non-HFE mutations
    • C.J. McDonald, D.F. Wallace, D.H. Crawford, and V.N. Subramaniam Iron storage disease in Asia-Pacific populations: the importance of non-HFE mutations J Gastroenterol Hepatol 28 2013 1087 1094
    • (2013) J Gastroenterol Hepatol , vol.28 , pp. 1087-1094
    • McDonald, C.J.1    Wallace, D.F.2    Crawford, D.H.3    Subramaniam, V.N.4
  • 3
    • 79955958017 scopus 로고    scopus 로고
    • Hepcidin and iron regulation, 10 years later
    • T. Ganz Hepcidin and iron regulation, 10 years later Blood 117 2011 4425 4433
    • (2011) Blood , vol.117 , pp. 4425-4433
    • Ganz, T.1
  • 5
    • 84864294140 scopus 로고    scopus 로고
    • WANNOVAR: Annotating genetic variants for personal genomes via the web
    • X. Chang, and K. Wang WANNOVAR: annotating genetic variants for personal genomes via the web J Med Genet 49 2012 433 436
    • (2012) J Med Genet , vol.49 , pp. 433-436
    • Chang, X.1    Wang, K.2
  • 6
    • 0033597780 scopus 로고    scopus 로고
    • Molecular cloning of transferrin receptor 2. A new member of the transferrin receptor-like family
    • H. Kawabata, R. Yang, T. Hirama, P.T. Vuong, S. Kawano, A.F. Gombart, and et al. Molecular cloning of transferrin receptor 2. A new member of the transferrin receptor-like family J Biol Chem 274 1999 20826 20832
    • (1999) J Biol Chem , vol.274 , pp. 20826-20832
    • Kawabata, H.1    Yang, R.2    Hirama, T.3    Vuong, P.T.4    Kawano, S.5    Gombart, A.F.6
  • 7
    • 39349110894 scopus 로고    scopus 로고
    • Defective trafficking and localization of mutated transferrin receptor 2: Implications for type 3 hereditary hemochromatosis
    • D.F. Wallace, L. Summerville, E.M. Crampton, and V.N. Subramaniam Defective trafficking and localization of mutated transferrin receptor 2: implications for type 3 hereditary hemochromatosis Am J Physiol Cell Physiol 294 2008 C383 C390
    • (2008) Am J Physiol Cell Physiol , vol.294 , pp. C383-C390
    • Wallace, D.F.1    Summerville, L.2    Crampton, E.M.3    Subramaniam, V.N.4
  • 8
    • 79951670710 scopus 로고    scopus 로고
    • G80S-linked ferroportin disease: Classical ferroportin disease in an Asian family and reclassification of the mutant as iron transport defective
    • C.J. McDonald, D.F. Wallace, L. Ostini, S.J. Bell, B. Demediuk, and V.N. Subramaniam G80S-linked ferroportin disease: Classical ferroportin disease in an Asian family and reclassification of the mutant as iron transport defective J Hepatol 54 2011 538 544
    • (2011) J Hepatol , vol.54 , pp. 538-544
    • McDonald, C.J.1    Wallace, D.F.2    Ostini, L.3    Bell, S.J.4    Demediuk, B.5    Subramaniam, V.N.6
  • 9
    • 0027972408 scopus 로고
    • Class II histocompatibility molecules associate with calnexin during assembly in the endoplasmic reticulum
    • K.L. Schreiber, M.P. Bell, C.J. Huntoon, S. Rajagopalan, M.B. Brenner, and D.J. McKean Class II histocompatibility molecules associate with calnexin during assembly in the endoplasmic reticulum Int Immunol 6 1994 101 111
    • (1994) Int Immunol , vol.6 , pp. 101-111
    • Schreiber, K.L.1    Bell, M.P.2    Huntoon, C.J.3    Rajagopalan, S.4    Brenner, M.B.5    McKean, D.J.6
  • 10
    • 14344249451 scopus 로고    scopus 로고
    • Hemojuvelin (HJV)-associated hemochromatosis: Analysis of HJV and HFE mutations and iron overload in three families
    • D.F. Wallace, J.L. Dixon, G.A. Ramm, G.J. Anderson, L.W. Powell, and N. Subramaniam Hemojuvelin (HJV)-associated hemochromatosis: analysis of HJV and HFE mutations and iron overload in three families Haematologica 90 2005 254 255
    • (2005) Haematologica , vol.90 , pp. 254-255
    • Wallace, D.F.1    Dixon, J.L.2    Ramm, G.A.3    Anderson, G.J.4    Powell, L.W.5    Subramaniam, N.6
  • 11
    • 1642280929 scopus 로고    scopus 로고
    • Autosomal dominant iron overload due to a novel mutation of ferroportin1 associated with parenchymal iron loading and cirrhosis
    • D.F. Wallace, R.M. Clark, H.A. Harley, and V.N. Subramaniam Autosomal dominant iron overload due to a novel mutation of ferroportin1 associated with parenchymal iron loading and cirrhosis J Hepatol 40 2004 710 713
    • (2004) J Hepatol , vol.40 , pp. 710-713
    • Wallace, D.F.1    Clark, R.M.2    Harley, H.A.3    Subramaniam, V.N.4
  • 12
  • 13
    • 33749075204 scopus 로고    scopus 로고
    • Homozygous p. M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload
    • S. Majore, F. Milano, F. Binni, L. Stuppia, A. Cerrone, A. Tafuri, and et al. Homozygous p. M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload Haematologica 91 2006 ECR33
    • (2006) Haematologica , vol.91 , pp. ECR33
    • Majore, S.1    Milano, F.2    Binni, F.3    Stuppia, L.4    Cerrone, A.5    Tafuri, A.6
  • 14
    • 1942445099 scopus 로고    scopus 로고
    • Homozygosity for transferrin receptor-2 Y250X mutation induces early iron overload
    • A. Piperno, A. Roetto, R. Mariani, S. Pelucchi, C. Corengia, F. Daraio, and et al. Homozygosity for transferrin receptor-2 Y250X mutation induces early iron overload Haematologica 89 2004 359 360
    • (2004) Haematologica , vol.89 , pp. 359-360
    • Piperno, A.1    Roetto, A.2    Mariani, R.3    Pelucchi, S.4    Corengia, C.5    Daraio, F.6
  • 15
    • 33749393565 scopus 로고    scopus 로고
    • Hereditary hemochromatosis protein, HFE, interaction with transferrin receptor 2 suggests a molecular mechanism for mammalian iron sensing
    • T. Goswami, and N.C. Andrews Hereditary hemochromatosis protein, HFE, interaction with transferrin receptor 2 suggests a molecular mechanism for mammalian iron sensing J Biol Chem 281 2006 28494 28498
    • (2006) J Biol Chem , vol.281 , pp. 28494-28498
    • Goswami, T.1    Andrews, N.C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.