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Volumn 148, Issue 4, 2015, Pages 1019-1026

Hepatopulmonary syndrome is a frequent cause of dyspnea in the short telomere disorders

Author keywords

[No Author keywords available]

Indexed keywords

TELOMERASE;

EID: 84943381247     PISSN: 00123692     EISSN: 19313543     Source Type: Journal    
DOI: 10.1378/chest.15-0825     Document Type: Article
Times cited : (97)

References (36)
  • 1
  • 2
    • 0025279931 scopus 로고
    • Telomeres shorten during ageing of human fibroblasts
    • Harley CB, Futcher AB, Greider CW. Telomeres shorten during ageing of human fibroblasts. Nature. 1990; 345 (6274): 458-460.
    • (1990) Nature. , vol.345 , Issue.6274 , pp. 458-460
    • Harley, C.B.1    Futcher, A.B.2    Greider, C.W.3
  • 4
    • 84924787997 scopus 로고    scopus 로고
    • Rare variants in RTEL1 are associated with familial interstitial pneumonia
    • Cogan JD, Kropski JA, Zhao M, et al. Rare variants in RTEL1 are associated with familial interstitial pneumonia. Am J Respir Crit Care Med. 2015; 191 (6): 646-655.
    • (2015) Am J Respir Crit Care Med. , vol.191 , Issue.6 , pp. 646-655
    • Cogan, J.D.1    Kropski, J.A.2    Zhao, M.3
  • 5
    • 84929130078 scopus 로고    scopus 로고
    • Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening
    • Stuart BD, Choi J, Zaidi S, et al. Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. Nat Genet. 2015; 47 (5): 512-517.
    • (2015) Nat Genet. , vol.47 , Issue.5 , pp. 512-517
    • Stuart, B.D.1    Choi, J.2    Zaidi, S.3
  • 6
    • 84885426952 scopus 로고    scopus 로고
    • Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (D KC1) gene
    • Alder JK, Parry EM, Yegnasubramanian S, et al. Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (D KC1) gene. Hum Mutat. 2013; 34 (11): 1481-1485.
    • (2013) Hum Mutat. , vol.34 , Issue.11 , pp. 1481-1485
    • Alder, J.K.1    Parry, E.M.2    Yegnasubramanian, S.3
  • 7
    • 34047188508 scopus 로고    scopus 로고
    • Telomerase mutations in families with idiopathic pulmonary fibrosis
    • Armanios MY, Chen JJ, Cogan JD, et al. Telomerase mutations in families with idiopathic pulmonary fibrosis. N Engl J Med. 2007; 356 (13): 1317-1326.
    • (2007) N Engl J Med. , vol.356 , Issue.13 , pp. 1317-1326
    • Armanios, M.Y.1    Chen, J.J.2    Cogan, J.D.3
  • 8
    • 34250614359 scopus 로고    scopus 로고
    • Adult-onset pulmonary fibrosis caused by mutations in telomerase
    • Tsakiri KD, Cronkhite JT, Kuan PJ, et al. Adult-onset pulmonary fibrosis caused by mutations in telomerase. Proc Natl Acad Sci U S A. 2007; 104 (18): 7552-7557.
    • (2007) Proc Natl Acad Sci U S A. , vol.104 , Issue.18 , pp. 7552-7557
    • Tsakiri, K.D.1    Cronkhite, J.T.2    Kuan, P.J.3
  • 9
    • 84961291345 scopus 로고    scopus 로고
    • Telomerase mutations in smokers with severe emphysema
    • Stanley SE, Chen JJ, Podlevsky JD, et al. Telomerase mutations in smokers with severe emphysema. J Clin Invest. 2015; 125 (2): 563-570.
    • (2015) J Clin Invest. , vol.125 , Issue.2 , pp. 563-570
    • Stanley, S.E.1    Chen, J.J.2    Podlevsky, J.D.3
  • 10
    • 79957590947 scopus 로고    scopus 로고
    • Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase
    • Parry EM, Alder JK, Qi X, Chen JJ, Armanios M. Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase. Blood. 2011; 117 (21): 5607-5611.
    • (2011) Blood. , vol.117 , Issue.21 , pp. 5607-5611
    • Parry, E.M.1    Alder, J.K.2    Qi, X.3    Chen, J.J.4    Armanios, M.5
  • 11
    • 0033754823 scopus 로고    scopus 로고
    • Dyskeratosis congenita in all its forms
    • Dokal I. Dyskeratosis congenita in all its forms. Br J Haematol. 2000; 110 (4): 768-779.
    • (2000) Br J Haematol. , vol.110 , Issue.4 , pp. 768-779
    • Dokal, I.1
  • 13
    • 70949087815 scopus 로고    scopus 로고
    • A spectrum of severe familial liver disorders associate with telomerase mutations
    • Calado RTRJ, Regal JA, Kleiner DE, et al. A spectrum of severe familial liver disorders associate with telomerase mutations. PLoS One. 2009; 4 (11): e7926.
    • (2009) PLoS One. , vol.4 , Issue.11 , pp. e7926
    • Calado, R.T.R.J.1    Regal, J.A.2    Kleiner, D.E.3
  • 15
    • 51349113450 scopus 로고    scopus 로고
    • Short telomeres are a risk factor for idiopathic pulmonary fibrosis
    • Alder JK, Chen JJ, Lancaster L, et al. Short telomeres are a risk factor for idiopathic pulmonary fibrosis. Proc Natl Acad Sci U S A. 2008; 105 (35): 13051-13056.
    • (2008) Proc Natl Acad Sci U S A. , vol.105 , Issue.35 , pp. 13051-13056
    • Alder, J.K.1    Chen, J.J.2    Lancaster, L.3
  • 16
    • 34548852722 scopus 로고    scopus 로고
    • Flow cytometry and FISH to measure the average length of telomeres (flow FISH)
    • Baerlocher GM, Vulto I, de Jong G, Lansdorp PM. Flow cytometry and FISH to measure the average length of telomeres (flow FISH). Nat Protoc. 2006; 1 (5): 2365-2376.
    • (2006) Nat Protoc. , vol.1 , Issue.5 , pp. 2365-2376
    • Baerlocher, G.M.1    Vulto, I.2    De Jong, G.3    Lansdorp, P.M.4
  • 17
    • 0034025843 scopus 로고    scopus 로고
    • Hepatopulmonary syndromes
    • Krowka MJ. Hepatopulmonary syndromes. Gut. 2000; 46 (1): 1-4.
    • (2000) Gut. , vol.46 , Issue.1 , pp. 1-4
    • Krowka, M.J.1
  • 18
    • 0035002944 scopus 로고    scopus 로고
    • Identification of novel DKC1 mutations in patients with dyskeratosis congenita: Implications for pathophysiology and diagnosis
    • Knight SW, Vulliamy TJ, Morgan B, Devriendt K, Mason PJ, Dokal I. Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis . Hum Genet. 2001; 108 (4): 299-303.
    • (2001) Hum Genet. , vol.108 , Issue.4 , pp. 299-303
    • Knight, S.W.1    Vulliamy, T.J.2    Morgan, B.3    Devriendt, K.4    Mason, P.J.5    Dokal, I.6
  • 19
    • 84876503523 scopus 로고    scopus 로고
    • Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in dyskeratosis congenita
    • Ballew BJ, Yeager M, Jacobs K, et al. Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in dyskeratosis congenita. Hum Genet. 2013; 132 (4): 473-480.
    • (2013) Hum Genet. , vol.132 , Issue.4 , pp. 473-480
    • Ballew, B.J.1    Yeager, M.2    Jacobs, K.3
  • 22
    • 84856702757 scopus 로고    scopus 로고
    • Hepatopulmonary syndrome in children with cirrhotic and non-cirrhotic portal hypertension: A single-center experience
    • Sari S, Oguz D, Sucak T, Dalgic B, Atasever T. Hepatopulmonary syndrome in children with cirrhotic and non-cirrhotic portal hypertension: a single-center experience . Dig Dis Sci. 2012; 57 (1): 175-181.
    • (2012) Dig Dis Sci. , vol.57 , Issue.1 , pp. 175-181
    • Sari, S.1    Oguz, D.2    Sucak, T.3    Dalgic, B.4    Atasever, T.5
  • 23
    • 0035666426 scopus 로고    scopus 로고
    • Prevalence of hepatopulmonary syndrome in cirrhosis and extrahepatic portal venous obstruction
    • Gupta D, Vijaya DR, Gupta R, et al. Prevalence of hepatopulmonary syndrome in cirrhosis and extrahepatic portal venous obstruction. Am J Gastroenterol. 2001; 96 (12): 3395-3399.
    • (2001) Am J Gastroenterol. , vol.96 , Issue.12 , pp. 3395-3399
    • Gupta, D.1    Vijaya, D.R.2    Gupta, R.3
  • 24
    • 44349128541 scopus 로고    scopus 로고
    • Hepatopulmonary syndrome-A liverinduced lung vascular disorder
    • Rodrîguez-Roisin R, Krowka MJ. Hepatopulmonary syndrome-a liverinduced lung vascular disorder. N Engl J Med. 2008; 358 (22): 2378-2387.
    • (2008) N Engl J Med. , vol.358 , Issue.22 , pp. 2378-2387
    • Rodrîguez-Roisin, R.1    Krowka, M.J.2
  • 25
    • 0025303034 scopus 로고
    • Micronodular transformation (nodular regenerative hyperplasia) of the liver: A report of 64 cases among 2,500 autopsies and a new classification of benign hepatocellular nodules
    • Wanless IR. Micronodular transformation (nodular regenerative hyperplasia) of the liver: a report of 64 cases among 2,500 autopsies and a new classification of benign hepatocellular nodules. Hepatology. 1990; 11 (5): 787-797.
    • (1990) Hepatology. , vol.11 , Issue.5 , pp. 787-797
    • Wanless, I.R.1
  • 26
    • 84859573974 scopus 로고    scopus 로고
    • Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood
    • Sasa G, Ribes-Zamora A, Nelson N, Bertuch A. Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood. Clin Genet. 2012 ;81(5):470-478.
    • (2012) Clin Genet. , vol.81 , Issue.5 , pp. 470-478
    • Sasa, G.1    Ribes-Zamora, A.2    Nelson, N.3    Bertuch, A.4
  • 27
    • 84899935655 scopus 로고    scopus 로고
    • Liver failure due to hepatic angiosarcoma in an adolescent with dyskeratosis congenita
    • Olson TS, Chan ES, Paessler ME, et al. Liver failure due to hepatic angiosarcoma in an adolescent with dyskeratosis congenita. J Pediatr Hematol Oncol. 2014; 36 (4): 312-315.
    • (2014) J Pediatr Hematol Oncol. , vol.36 , Issue.4 , pp. 312-315
    • Olson, T.S.1    Chan, E.S.2    Paessler, M.E.3
  • 28
    • 52949106534 scopus 로고    scopus 로고
    • Liver transplantation for pulmonary vascular complications of pediatric end-stage liver disease
    • Iqbal CW, Krowka MJ, Pham TH, Freese DK, El Youssef M, Ishitani MB. Liver transplantation for pulmonary vascular complications of pediatric end-stage liver disease. J Pediatr Surg. 2008; 43 (10): 1813-1820.
    • (2008) J Pediatr Surg. , vol.43 , Issue.10 , pp. 1813-1820
    • Iqbal, C.W.1    Krowka, M.J.2    Pham, T.H.3    Freese, D.K.4    El Youssef, M.5    Ishitani, M.B.6
  • 29
    • 0343986399 scopus 로고    scopus 로고
    • Hepatopulmonary syndrome after allogeneic bone marrow transplantation
    • Griese M, Bender-Götze C. Hepatopulmonary syndrome after allogeneic bone marrow transplantation. Bone Marrow Transplant. 1999; 24 (11): 1249-1252.
    • (1999) Bone Marrow Transplant. , vol.24 , Issue.11 , pp. 1249-1252
    • Griese, M.1    Bender-Götze, C.2
  • 30
    • 0033848842 scopus 로고    scopus 로고
    • Multiple intrapulmonary arteriovenous fistulas in childhood
    • Sands A, Dalzell E, Craig B, Shields M. Multiple intrapulmonary arteriovenous fistulas in childhood. Pediatr Cardiol. 2000; 21 (5): 493-496.
    • (2000) Pediatr Cardiol. , vol.21 , Issue.5 , pp. 493-496
    • Sands, A.1    Dalzell, E.2    Craig, B.3    Shields, M.4
  • 31
    • 74249122478 scopus 로고    scopus 로고
    • Cyanosis revealing hepatopulmonary syndrome in a child with dyskeratosis congenita
    • Renoux MC, Mazars N, Tichit R, Counil F. Cyanosis revealing hepatopulmonary syndrome in a child with dyskeratosis congenita. Pediatr Pulmonol. 2010; 45 (1): 99-102.
    • (2010) Pediatr Pulmonol. , vol.45 , Issue.1 , pp. 99-102
    • Renoux, M.C.1    Mazars, N.2    Tichit, R.3    Counil, F.4
  • 32
    • 1242329223 scopus 로고    scopus 로고
    • A boy with breathlessness, digital clubbing and central cyanosis
    • Gordijn SJ, Brand PL. A boy with breathlessness, digital clubbing and central cyanosis. Eur J Pediatr. 2004; 163 (2): 129-130.
    • (2004) Eur J Pediatr. , vol.163 , Issue.2 , pp. 129-130
    • Gordijn, S.J.1    Brand, P.L.2
  • 33
    • 84903834962 scopus 로고    scopus 로고
    • Lung transplantation in telomerase mutation carriers with pulmonary fibrosis
    • Silhan LL, Shah PD, Chambers DC, et al. Lung transplantation in telomerase mutation carriers with pulmonary fibrosis. Eur Respir J. 2014; 44 (1): 178-187.
    • (2014) Eur Respir J. , vol.44 , Issue.1 , pp. 178-187
    • Silhan, L.L.1    Shah, P.D.2    Chambers, D.C.3
  • 34
    • 0019415503 scopus 로고
    • Nodular regenerative hyperplasia of the liver associated with macroglobulinemia. A clue to the pathogenesis
    • Wanless IR, Solt LC, Kortan P, Deck JH, Gardiner GW, Prokipchuk EJ. Nodular regenerative hyperplasia of the liver associated with macroglobulinemia. A clue to the pathogenesis. Am J Med. 1981; 70 (6): 1203-1209.
    • (1981) Am J Med. , vol.70 , Issue.6 , pp. 1203-1209
    • Wanless, I.R.1    Solt, L.C.2    Kortan, P.3    Deck, J.H.4    Gardiner, G.W.5    Prokipchuk, E.J.6
  • 35
    • 79952500119 scopus 로고    scopus 로고
    • Short telomeres compromise b -cell signaling and survival
    • Guo N, Parry EM, Li LS, et al. Short telomeres compromise b -cell signaling and survival. PLoS One. 2011; 6 (3): e17858.
    • (2011) PLoS One. , vol.6 , Issue.3 , pp. e17858
    • Guo, N.1    Parry, E.M.2    Li, L.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.