Telomeres revisited: RTEL1 variants in pulmonary fibrosis

被引：8
|
作者：
Kropski, Jonathan A. [1 ]
Loyd, James E. [1 ]
机构：
[1] Vanderbilt Univ, Sch Med, Dept Med, Div Allergy Pulm & Crit Care Med, Nashville, TN 37232 USA
来源：
EUROPEAN RESPIRATORY JOURNAL | 2015年 / 46卷 / 02期
关键词：
FAMILIAL INTERSTITIAL PNEUMONIA; TINF2 GENE MUTATION; DYSKERATOSIS-CONGENITA; LUNG TRANSPLANTATION; HELICASE; DISEASE; ASSOCIATION; DYSFUNCTION; DEFICIENCY; LENGTH;
D O I：
10.1183/13993003.00710-2015
中图分类号：
R56 [呼吸系及胸部疾病];
学科分类号：
摘要：
[No abstract available]
引用
收藏
页码：312 / 314
页数：3
相关论文
共 50 条
  • [1] Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis
    Kannengiesser, Caroline
    Borie, Raphael
    Menard, Christelle
    Reocreux, Marion
    Nitschke, Patrick
    Gazal, Steven
    Mal, Herve
    Taille, Camille
    Cadranel, Jacques
    Nunes, Hilario
    Valeyre, Dominique
    Cordier, Jean Francois
    Callebaut, Isabelle
    Boileau, Catherine
    Cottin, Vincent
    Grandchamp, Bernard
    Revy, Patrick
    Crestani, Bruno
    EUROPEAN RESPIRATORY JOURNAL, 2015, 46 (02) : 474 - 485
  • [2] Germline RTEL1 Variants in Telomere Biology Disorders
    Thompson, Ashley S.
    Niewisch, Marena R.
    Giri, Neelam
    McReynolds, Lisa J.
    Savage, Sharon A.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2025, 197 (02)
  • [3] Rare Variants in RTEL1 Are Associated with Familial Interstitial Pneumonia
    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
  • [4] Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening
    Stuart, Bridget D.
    Choi, Jungmin
    Zaidi, Samir
    Xing, Chao
    Holohan, Brody
    Chen, Rui
    Choi, Mihwa
    Dharwadkar, Pooja
    Torres, Fernando
    Girod, Carlos E.
    Weissler, Jonathan
    Fitzgerald, John
    Kershaw, Corey
    Klesney-Tait, Julia
    Mageto, Yolanda
    Shay, Jerry W.
    Ji, Weizhen
    Bilguvar, Kaya
    Mane, Shrikant
    Lifton, Richard P.
    Garcia, Christine Kim
    NATURE GENETICS, 2015, 47 (05) : 512 - U114
  • [5] Human RTEL1 deficiency causes HoyeraalHreidarsson syndrome with short telomeres and genome instability
    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
  • [6] Association analysis of RTEL1 variants with risk of adult gliomas in a Korean population
    Namgoong, Suhg
    Cheong, Hyun Sub
    Kim, Jeong-Hyun
    Kim, Lyoung Hyo
    Seo, Jung Yeon
    Kang, Seok-Gu
    Yoon, Seon-Jin
    Kim, Se Hoon
    Chang, Jong Hee
    Shin, Hyoung Doo
    PLOS ONE, 2018, 13 (11):
  • [7] Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms
    Marsh, Judith C. W.
    Gutierrez-Rodrigues, Fernanda
    Cooper, James
    Jiang, Jie
    Gandhi, Shreyans
    Kajigaya, Sachiko
    Feng, Xingmin
    Ibanez, Maria del Pilar F.
    Donaires, Flavia S.
    Lopes da Silva, Joao P.
    Li, Zejuan
    Das, Soma
    Ibanez, Maria
    Smith, Alexander E.
    Lea, Nicholas
    Best, Steven
    Ireland, Robin
    Kulasekararaj, Austin G.
    McLornan, Donal P.
    Pagliuca, Anthony
    Callebaut, Isabelle
    Young, Neal S.
    Calado, Rodrigo T.
    Townsley, Danielle M.
    Mufti, Ghulam J.
    BLOOD ADVANCES, 2018, 2 (01) : 36 - 48
  • [8] What the Genetics "RTEL"ing Us about Telomeres and Pulmonary Fibrosis
    Stanley, Susan E.
    Noth, Imre
    Armanios, Mary
    AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2015, 191 (06) : 608 - 610
  • [9] Clinical and Molecular Heterogeneity of RTEL1 Deficiency
    Speckmann, Carsten
    Sahoo, Sushree Sangita
    Rizzi, Marta
    Hirabayashi, Shinsuke
    Karow, Axel
    Serwas, Nina Kathrin
    Hoemberg, Marc
    Damatova, Natalja
    Schindler, Detlev
    Vannier, Jean-Baptiste
    Boulton, Simon J.
    Pannicke, Ulrich
    Goehring, Gudrun
    Thomay, Kathrin
    Verdu-Amoros, J. J.
    Hauch, Holger
    Woessmann, Wilhelm
    Escherich, Gabriele
    Laack, Eckart
    Rindle, Liliana
    Seidl, Maximilian
    Rensing-Ehl, Anne
    Lausch, Ekkehart
    Jandrasits, Christine
    Strahm, Brigitte
    Schwarz, Klaus
    Ehl, Stephan R.
    Niemeyer, Charlotte
    Boztug, Kaan
    Wlodarski, Marcin W.
    FRONTIERS IN IMMUNOLOGY, 2017, 8
  • [10] Regulator of telomere length 1 (RTEL1) mutations are associated with heterogeneous pulmonary and extra-pulmonary phenotypes
    Borie, Raphael
    Bouvry, Diane
    Cottin, Vincent
    Gauvain, Clement
    Cazes, Aurelie
    Debray, Marie-Pierre
    Cadranel, Jacques
    Dieude, Philippe
    Degot, Tristan
    Dominique, Stephane
    Gamez, Anne Sophie
    Jaillet, Madeleine
    Juge, Pierre-Antoine
    Londono-Vallejo, Arturo
    Mailleux, Arnaud
    Mal, Herve
    Boileau, Catherine
    Menard, Christelle
    Nunes, Hilario
    Prevot, Gregoire
    Quetant, Sebastien
    Revy, Patrick
    Traclet, Julie
    Wemeau-Stervinou, Lidwine
    Wislez, Marie
    Kannengiesser, Caroline
    Crestani, Bruno
    EUROPEAN RESPIRATORY JOURNAL, 2019, 53 (02)
12345