Management of suspected monogenic lung fibrosis in a specialised centre

被引：58

作者：

Borie, Raphael ^{[1
,2
,3
,4
]}

Kannengiesser, Caroline ^{[4
,5
]}

de Fontbrune, Flore Sicre ^{[6
]}

Gouya, Laurent ^{[4
,7
,8
,9
]}

Nathan, Nadia ^{[10
,11
]}

Crestani, Bruno ^{[1
,2
,3
,4
]}

机构：

[1] Ctr Competence Malad Pulm Rares, Serv Pneumol A, Paris, France

[2] Hop Bichat Claude Bernard, APHP, DHU FIRE, Paris, France

[3] INSERM, U1152, Paris, France

[4] Univ Paris Diderot, Paris, France

[5] Hop Bichat Claude Bernard, APHP, Genet Lab, Paris, France

[6] Hop St Louis, APHP, CMRM Aplasies Medullaires, Serv Hematol Greffe Moelle, Paris, France

[7] Hop Louis Mourier, AP HP, Ctr Francais Porphyries, Colombes, France

[8] GR Ex, Lab Excellence, Paris, France

[9] INSERM, UMR1149, Paris, France

[10] Hop Armand Trousseau, APHP, Serv Pneumol Pediat, Ctr Natl Reference Malad Resp Rares, Paris, France

[11] Univ Paris 06, Sorbonne Univ, Unite Mixte Rech S933, INSERM, Paris, France

来源：

EUROPEAN RESPIRATORY REVIEW | 2017年 / 26卷 / 144期

关键词：

IDIOPATHIC PULMONARY-FIBROSIS; BONE-MARROW FAILURE; MUC5B PROMOTER POLYMORPHISM; GENOME-WIDE ASSOCIATION; INTERSTITIAL PNEUMONIA; DYSKERATOSIS-CONGENITA; TELOMERE LENGTH; APLASTIC-ANEMIA; MUTATIONS; GENE;

D O I：

10.1183/16000617.0122-2016

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

(1)Service de Pneumologie A, Centre de Competence des Maladies Pulmonaires Rares, Paris, France. (DHU)-D-2 FIRE, Hopital Bichat, APHP, Paris, France. (INSERM)-I-3, Unite 1152, Paris, France. (4)University Paris Diderot, Paris, France. (5)Laboratoire de Genetique, APHP, Hpital Bichat, Paris, France. (6)Service d'Hematologie Greffe de Moelle, CMRM Aplasies medullaires, Hopital Saint Louis, APHP, Paris, France. (7)Centre Francais des Porphyries, Hopital Louis Mourier, AP-HP, Colombes, France. (8)Laboratory of Excellence, GR-Ex, Paris, France. (INSERM)-I-9 UMR1149, Paris, France. (10)Service de Pneumologie Pediatrique, Centre National de Reference des Maladies Respiratoires Rares, Hpital Armand-Trousseau, APHP, Paris, France. (INSERM)-I-11 Unite Mixte de Recherche S933, Sorbonne Universites, Universite Pierre et Marie Curie, Paris, France.

引用

页数：17

共 123 条

[1] Exome Sequencing Identifies Mutant TINF2 in a Family With Pulmonary Fibrosis [J].

Alder, Jonathan K. ;

Stanley, Susan E. ;

Wagner, Christa L. ;

Hamilton, Makenzie ;

Hanumanthu, Vidya Sagar ;

Armanios, Mary .

CHEST, 2015, 147 (05) :1361-1368

[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] Telomere Length Is a Determinant of Emphysema Susceptibility [J].

Alder, Jonathan K. ;

Guo, Nini ;

Kembou, Frant ;

Parry, Erin M. ;

Anderson, Collin J. ;

Gorgy, Amany I. ;

Walsh, Michael F. ;

Sussan, Thomas ;

Biswal, Shyam ;

Mitzner, Wayne ;

Tuder, Rubin M. ;

Armanios, Mary .

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2011, 184 (08) :904-912

[4] Ancestral Mutation in Telomerase Causes Defects in Repeat Addition Processivity and Manifests As Familial Pulmonary Fibrosis [J].

Alder, Jonathan K. ;

Cogan, Joy D. ;

Brown, Andrew F. ;

Anderson, Collin J. ;

Lawson, William E. ;

Lansdorp, Peter M. ;

Phillips, John A., III ;

Loyd, James E. ;

Chen, Julian J. -L. ;

Armanios, Mary .

PLOS GENETICS, 2011, 7 (03)

[5] Telomeres and disease: An overview [J].

Armanios, Mary ;

Price, Carolyn .

MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS, 2012, 730 (1-2) :1-2

[6] Telomerase mutations in families with idiopathic pulmonary fibrosis [J].

Armanios, Mary Y. ;

Chen, Julian J. -L. ;

Cogan, Joy D. ;

Alder, Jonathan K. ;

Ingersoll, Roxann G. ;

Markin, Cheryl ;

Lawson, William E. ;

Xie, Mingyi ;

Vulto, Irma ;

Phillips, John A., III ;

Lansdorp, Peter M. ;

Greider, Carol W. ;

Loyd, James E. .

NEW ENGLAND JOURNAL OF MEDICINE, 2007, 356 (13) :1317-1326

[7] Telomere attrition in lens epithelial cells - a target for N-acetylcarnosine therapy [J].

Babizhayev, Mark A. ;

Yegorov, Yegor E. .

FRONTIERS IN BIOSCIENCE-LANDMARK, 2010, 15 :934-956

[8]

Ball SE, 1998, BLOOD, V91, P3582

[9] Association of pulmonary alveolar proteinosis and fibrosis: patient with GATA2 deficiency [J].

Ballerie, Alice ;

Nimubona, Stanislas ;

Meunier, Catherine ;

Gutierrez, Francisco Llamas ;

Desrues, Benoit ;

Delaval, Philippe ;

Jouneau, Stephane .

EUROPEAN RESPIRATORY JOURNAL, 2016, 48 (05) :1510-1514

[10] The telomerase activator TA-65 elongates short telomeres and increases health span of adult/old mice without increasing cancer incidence [J].

Bernardes de Jesus, Bruno ;

Schneeberger, Kerstin ;

Vera, Elsa ;

Tejera, Agueda ;

Harley, Calvin B. ;

Blasco, Maria A. .

AGING CELL, 2011, 10 (04) :604-621

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