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Volumn 192, Issue 5, 2015, Pages 618-628

Pulmonary nontuberculous mycobacterial infection a multisystem, multigenic disease

(22)  Szymanski, Eva P a   Leung, Janice M a   Fowler, Cedar J a   Haney, Carissa a   Hsu, Amy P a   Chen, Fei b   Duggal, Priya b   Oler, Andrew J c   McCormack, Ryan d   Podack, Eckhard d   Drummond, Rebecca A a   Lionakis, Michail S a   Browne, Sarah K a   Prevots, D Rebecca a   Knowles, Michael e   Cutting, Gary f   Liu, Xinyue g   Devine, Scott E g   Fraser, Claire M g   Tettelin, Hervé g   more..


Author keywords

Bronchiectasis; Cilia; Genetics; Immune system diseases; Nontuberculous mycobacteria

Indexed keywords

C TYPE LECTIN DOMAIN FAMILY 4 MEMBER D; CASPASE RECRUITMENT DOMAIN PROTEIN 9; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CYTOCHROME B 245 BETA POLYPEPTIDE; FIBRILLIN 2; GAMMA INTERFERON; GAMMA INTERFERON RECEPTOR; GAMMA INTERFERON RECEPTOR 1; GAMMA INTERFERON RECEPTOR 2; INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELL KINASE GAMMA; INTERFERON CONSENSUS SEQUENCE BINDING PROTEIN; INTERLEUKIN 12 RECEPTOR; INTERLEUKIN 12 RECEPTOR BETA; INTERLEUKIN 12 RECEPTOR BETA1; INTERLEUKIN 12 RECEPTOR BETA2; INTERLEUKIN 12P35; ISG15 PROTEIN; MACROPHAGE EXPRESSED GENE 1 PROTEIN; POLYPEPTIDE; PROTEIN; RAG1 PROTEIN; RAG2 PROTEIN; SMAD6 PROTEIN; STAT1 PROTEIN; TRANSCRIPTION FACTOR GATA 2; UNCLASSIFIED DRUG; CFTR PROTEIN, HUMAN;

EID: 84942235019     PISSN: 1073449X     EISSN: 15354970     Source Type: Journal    
DOI: 10.1164/rccm.201502-0387OC     Document Type: Article
Times cited : (125)

References (49)
  • 7
    • 0036086275 scopus 로고    scopus 로고
    • Management of Marfan syndrome
    • Dean JC. Management of Marfan syndrome. Heart 2002;88:97-103.
    • (2002) Heart , vol.88 , pp. 97-103
    • Dean, J.C.1
  • 8
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows-Wheeler transform
    • Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009;25:1754-1760.
    • (2009) Bioinformatics , vol.25 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 10
    • 84862506964 scopus 로고    scopus 로고
    • A program for annotating and predicting the effects of single nucleotide polymorphisms SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; Iso-2; iso-3
    • Cingolani P, Platts A,Wang LL, Coon M, Nguyen T, Wang L, Land SJ, Lu X, Ruden DM. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly (Austin) 2012;6:80-92.
    • (2012) Fly (Austin) , vol.6 , pp. 80-92
    • Cingolani, P.1    Platts, A.2    Wang, L.L.3    Coon, M.4    Nguyen, T.5    Wang, L.6    Land, S.J.7    Lu, X.8    Ruden, D.M.9
  • 11
    • 84895858942 scopus 로고    scopus 로고
    • A general framework for estimating the relative pathogenicity of human genetic variants
    • Kircher M, Witten DM, Jain P, O'Roak BJ, Cooper GM, Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet 2014;46:310-315.
    • (2014) Nat Genet , vol.46 , pp. 310-315
    • Kircher, M.1    Witten, D.M.2    Jain, P.3    O'Roak, B.J.4    Cooper, G.M.5    Shendure, J.6
  • 12
    • 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:e164.
    • (2010) Nucleic Acids Res , vol.38 , pp. e164
    • Wang, K.1    Li, M.2    Hakonarson, H.3
  • 14
    • 84857187982 scopus 로고    scopus 로고
    • VarSifter: Visualizing and analyzing exome-scale sequence variation data on a desktop computer
    • Teer JK, Green ED, Mullikin JC, Biesecker LG. VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer. Bioinformatics 2012;28:599-600.
    • (2012) Bioinformatics , vol.28 , pp. 599-600
    • Teer, J.K.1    Green, E.D.2    Mullikin, J.C.3    Biesecker, L.G.4
  • 15
  • 16
    • 57149144518 scopus 로고    scopus 로고
    • The genetic heterogeneity of Mendelian susceptibility to mycobacterial diseases
    • quiz 1052-1053
    • Al-Muhsen S, Casanova JL. The genetic heterogeneity of Mendelian susceptibility to mycobacterial diseases. J Allergy Clin Immunol 2008;122:1043-1051, quiz 1052-1053.
    • (2008) J Allergy Clin Immunol , vol.122 , pp. 1043-1051
    • Al-Muhsen, S.1    Casanova, J.L.2
  • 24
    • 84863727054 scopus 로고    scopus 로고
    • Novel insights into the innate immune response to non-tuberculous Mycobacteria
    • Heinz LX, Schroder K. Novel insights into the innate immune response to non-tuberculous Mycobacteria. Immunol Cell Biol 2012;90:568-570.
    • (2012) Immunol Cell Biol , vol.90 , pp. 568-570
    • Heinz, L.X.1    Schroder, K.2
  • 28
    • 33750057649 scopus 로고    scopus 로고
    • Prospective analysis of cystic fibrosis transmembrane regulator mutations in adults with bronchiectasis or pulmonary nontuberculous mycobacterial infection
    • Ziedalski TM, Kao PN, Henig NR, Jacobs SS, Ruoss SJ. Prospective analysis of cystic fibrosis transmembrane regulator mutations in adults with bronchiectasis or pulmonary nontuberculous mycobacterial infection. Chest 2006;130:995-1002.
    • (2006) Chest , vol.130 , pp. 995-1002
    • Ziedalski, T.M.1    Kao, P.N.2    Henig, N.R.3    Jacobs, S.S.4    Ruoss, S.J.5
  • 29
    • 84947899465 scopus 로고    scopus 로고
    • Recent advances in primary ciliary dyskinesia genetics
    • Kurkowiak M, Ziętkiewicz E, Witt M. Recent advances in primary ciliary dyskinesia genetics. J Med Genet 2015;52:1-9.
    • (2015) J Med Genet , vol.52 , pp. 1-9
    • Kurkowiak, M.1    Ziętkiewicz, E.2    Witt, M.3
  • 32
    • 0033855359 scopus 로고    scopus 로고
    • Elevated levels of macrophage-stimulating protein in induced sputum of patients with bronchiectasis
    • Takano Y, Sakamoto O, Suga M, Suda T, Ando M. Elevated levels of macrophage-stimulating protein in induced sputum of patients with bronchiectasis. Respir Med 2000;94:784-790.
    • (2000) Respir Med , vol.94 , pp. 784-790
    • Takano, Y.1    Sakamoto, O.2    Suga, M.3    Suda, T.4    Ando, M.5
  • 33
    • 0026694184 scopus 로고
    • Mycobacterium avium complex pulmonary disease presenting as an isolated lingular or middle lobe pattern: The Lady Windermere syndrome
    • Reich JM, Johnson RE. Mycobacterium avium complex pulmonary disease presenting as an isolated lingular or middle lobe pattern: the Lady Windermere syndrome. Chest 1992;101:1605-1609.
    • (1992) Chest , vol.101 , pp. 1605-1609
    • Reich, J.M.1    Johnson, R.E.2
  • 34
    • 0025945756 scopus 로고
    • Pectus excavatum and scoliosis: Thoracic anomalies associated with pulmonary disease caused by Mycobacterium avium complex
    • Iseman MD, Buschman DL, Ackerson LM. Pectus excavatum and scoliosis: thoracic anomalies associated with pulmonary disease caused by Mycobacterium avium complex. Am Rev Respir Dis 1991; 144:914-916.
    • (1991) Am Rev Respir Dis , vol.144 , pp. 914-916
    • Iseman, M.D.1    Buschman, D.L.2    Ackerson, L.M.3
  • 36
    • 61649103114 scopus 로고    scopus 로고
    • Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature
    • Callewaert BL, Loeys BL, Ficcadenti A, Vermeer S, Landgren M, Kroes HY, Yaron Y, Pope M, Foulds N, Boute O, et al. Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. Hum Mutat 2009;30:334-341.
    • (2009) Hum Mutat , vol.30 , pp. 334-341
    • Callewaert, B.L.1    Loeys, B.L.2    Ficcadenti, A.3    Vermeer, S.4    Landgren, M.5    Kroes, H.Y.6    Yaron, Y.7    Pope, M.8    Foulds, N.9    Boute, O.10
  • 38
    • 0033988509 scopus 로고    scopus 로고
    • Compound heterozygosity for a diseasecausing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: An explanation of intrafamilial variability?
    • Giunta C, Steinmann B. Compound heterozygosity for a diseasecausing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability? Am J Med Genet 2000;90:72-79.
    • (2000) Am J Med Genet , vol.90 , pp. 72-79
    • Giunta, C.1    Steinmann, B.2
  • 39
    • 11344280403 scopus 로고    scopus 로고
    • The molecular basis of classic Ehlers-Danlos syndrome: A comprehensive study of biochemical and molecular findings in 48 unrelated patients
    • Malfait F, Coucke P, Symoens S, Loeys B, Nuytinck L, De Paepe A. The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients. Hum Mutat 2005;25:28-37.
    • (2005) Hum Mutat , vol.25 , pp. 28-37
    • Malfait, F.1    Coucke, P.2    Symoens, S.3    Loeys, B.4    Nuytinck, L.5    De Paepe, A.6
  • 44
    • 84867137463 scopus 로고    scopus 로고
    • Host susceptibility or environmental exposure in Mycobacterium avium complex lung disease: It takes two to tango
    • Marras TK. Host susceptibility or environmental exposure in Mycobacterium avium complex lung disease: it takes two to tango. Am J Respir Crit Care Med 2012;186:585-586.
    • (2012) Am J Respir Crit Care Med , vol.186 , pp. 585-586
    • Marras, T.K.1
  • 45
    • 84890145395 scopus 로고    scopus 로고
    • Digenic inheritance in medical genetics
    • Schäffer AA. Digenic inheritance in medical genetics. J Med Genet 2013;50:641-652.
    • (2013) J Med Genet , vol.50 , pp. 641-652
    • Schäffer, A.A.1
  • 46
    • 84907348494 scopus 로고    scopus 로고
    • Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis
    • Zhang K, Chandrakasan S, Chapman H, Valencia CA, Husami A, Kissell D, Johnson JA, Filipovich AH. Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis. Blood 2014;124: 1331-1334.
    • (2014) Blood , vol.124 , pp. 1331-1334
    • Zhang, K.1    Chandrakasan, S.2    Chapman, H.3    Valencia, C.A.4    Husami, A.5    Kissell, D.6    Johnson, J.A.7    Filipovich, A.H.8
  • 47
    • 84911897085 scopus 로고    scopus 로고
    • Environmental risks for nontuberculous mycobacteria: Individual exposures and climatic factors in the cystic fibrosis population
    • Prevots DR, Adjemian J, Fernandez AG, Knowles MR, Olivier KN. Environmental risks for nontuberculous mycobacteria: individual exposures and climatic factors in the cystic fibrosis population. Ann Am Thorac Soc 2014;11:1032-1038.
    • (2014) Ann Am Thorac Soc , vol.11 , pp. 1032-1038
    • Prevots, D.R.1    Adjemian, J.2    Fernandez, A.G.3    Knowles, M.R.4    Olivier, K.N.5
  • 48
    • 84874397842 scopus 로고    scopus 로고
    • Underlying host risk factors for nontuberculous mycobacterial lung disease
    • Chan ED, Iseman MD. Underlying host risk factors for nontuberculous mycobacterial lung disease. Semin Respir Crit Care Med 2013;34: 110-123.
    • (2013) Semin Respir Crit Care Med , vol.34 , pp. 110-123
    • Chan, E.D.1    Iseman, M.D.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.