What the Genetics "RTEL"ing Us about Telomeres and Pulmonary Fibrosis

被引：4

作者：

Stanley, Susan E. ^{[1
,2
]}

Noth, Imre ^{[3
]}

Armanios, Mary ^{[2
]}

机构：

[1] Johns Hopkins Univ, Sch Med, Med Scientist Training Program, Baltimore, MD 21218 USA

[2] Johns Hopkins Univ, Sch Med, Dept Oncol, Baltimore, MD 21205 USA

[3] Univ Chicago, Sect Pulm & Crit Care Med, Chicago, IL 60637 USA

来源：

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE | 2015年 / 191卷 / 06期

关键词：

DYSKERATOSIS-CONGENITA; MUTATIONS;

D O I：

10.1164/rccm.201501-0119ED

中图分类号：

R4 [临床医学];

学科分类号：

1002 ; 100602 ;

摘要：

引用

页码：608 / 610

页数：3

共 11 条

[1]

Alder JK, 2014, CHEST, DOI [10.1378/chest.14-1947, DOI 10.1378/CHEST.14-1947]

[2] Telomere Phenotypes in Females with Heterozygous Mutations in the Dyskeratosis Congenita 1 (DKC1) Gene [J].

Alder, Jonathan K. ;

Parry, Erin M. ;

Yegnasubramanian, Srinivasan ;

Wagner, Christa L. ;

Lieblich, Lawrence M. ;

Auerbach, Robert ;

Auerbach, Arleen D. ;

Wheelan, Sarah J. ;

Armanios, Mary .

HUMAN MUTATION, 2013, 34 (11) :1481-1485

[3] Telomeres and age-related disease: how telomere biology informs clinical paradigms [J].

Armanios, Mary .

JOURNAL OF CLINICAL INVESTIGATION, 2013, 123 (03) :996-1002

[4] Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita [J].

Ballew, Bari J. ;

Yeager, Meredith ;

Jacobs, Kevin ;

Giri, Neelam ;

Boland, Joseph ;

Burdett, Laurie ;

Alter, Blanche P. ;

Savage, Sharon A. .

HUMAN GENETICS, 2013, 132 (04) :473-480

[5] Rare Variants in RTEL1 Are Associated with Familial Interstitial Pneumonia [J].

Cogan, Joy D. ;

Kropski, Jonathan A. ;

Zhao, Min ;

Mitchell, Daphne B. ;

Rives, Lynette ;

Markin, Cheryl ;

Gamett, Errine T. ;

Montgomery, Keri H. ;

Mason, Wendi R. ;

McKean, David F. ;

Powers, Julia ;

Murphy, Elissa ;

Olson, Lana M. ;

Choi, Leena ;

Cheng, Dong-Sheng ;

Blue, Elizabeth Marchani ;

Young, Lisa R. ;

Lancaster, Lisa H. ;

Steele, Mark P. ;

Brown, Kevin K. ;

Schwarz, Marvin I. ;

Fingerlin, Tasha E. ;

Schwartz, David A. ;

Lawson, William E. ;

Loyd, James E. ;

Zhao, Zhongming ;

Phillips, John A., III ;

Blackwell, Timothy S. .

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2015, 191 (06) :646-655

[6] Regulation of murine telomere length by Rtel:: An essential gene encoding a helicase-like protein [J].

Ding, H ;

Schertzer, M ;

Wu, XL ;

Gertsenstein, M ;

Selig, S ;

Kammori, M ;

Pourvali, R ;

Poon, S ;

Vulto, I ;

Chavez, E ;

Tam, PPL ;

Nagy, A ;

Lansdorp, PM .

CELL, 2004, 117 (07) :873-886

[7]

Garcia Christine Kim, 2011, Proc Am Thorac Soc, V8, P158, DOI 10.1513/pats.201008-056MS

[8] Human RTEL1 deficiency causes HoyeraalHreidarsson syndrome with short telomeres and genome instability [J].

Le Guen, Tangui ;

Jullien, Laurent ;

Touzot, Fabien ;

Schertzer, Michael ;

Gaillard, Laetitia ;

Perderiset, Mylene ;

Carpentier, Wassila ;

Nitschke, Patrick ;

Picard, Capucine ;

Couillault, Gerard ;

Soulier, Jean ;

Fischer, Alain ;

Callebaut, Isabelle ;

Jabado, Nada ;

Londono-Vallejo, Arturo ;

de Villartay, Jean-Pierre ;

Revy, Patrick .

HUMAN MOLECULAR GENETICS, 2013, 22 (16) :3239-3249

[9] Lung transplantation in telomerase mutation carriers with pulmonary fibrosis [J].

Silhan, Leann L. ;

Shah, Pali D. ;

Chambers, Daniel C. ;

Snyder, Laurie D. ;

Riise, Gerdt C. ;

Wagner, Christa L. ;

Hellstrom-Lindberg, Eva ;

Orens, Jonathan B. ;

Mewton, Juliette F. ;

Danoff, Sonye K. ;

Arcasoy, Murat O. ;

Armanios, Mary .

EUROPEAN RESPIRATORY JOURNAL, 2014, 44 (01) :178-187

[10] Telomerase mutations in smokers with severe emphysema [J].

Stanley, Susan E. ;

Chen, Julian J. L. ;

Podlevsky, Joshua D. ;

Alder, Jonathan K. ;

Hanse, Nadia N. ;

Mathias, Rasika A. ;

Qi, Xiaodong ;

Rafaels, Nicholas M. ;

Wise, Robert A. ;

Silverman, Edwin K. ;

Barnes, Kathleen C. ;

Armanios, Mary .

JOURNAL OF CLINICAL INVESTIGATION, 2015, 125 (02) :563-570

← 1 2 →