NKX2.1 (TTF1) germline mutation associated with pulmonary fibrosis and lung cancer

被引:11
|
作者
Borie, Raphael [1 ,2 ,3 ]
Funalot, Benoit [4 ]
Epaud, Ralph [5 ]
Delestrain, Celine [5 ]
Cazes, Aurelie [2 ,3 ,6 ]
Gounant, Valerie [2 ]
Frija, Justine [2 ,3 ,9 ]
Debray, Marie-Pierre [2 ,10 ]
Zalcman, Gerard [2 ,3 ,7 ,8 ]
Crestani, Bruno [1 ,2 ,3 ]
机构
[1] Hop Bichat Claude Bernard, AP HP, INSERM, U1152,Serv Pneumol A, Paris, France
[2] Univ Paris, Paris, France
[3] Hop Henri Mondor, AP HP, Lab Genet, Creteil, France
[4] Univ Paris Est Creteil, INSERM, IMRB, Creteil, France
[5] Ctr Hosp Intercommunal Creteil, Serv Pediat, Creteil, France
[6] Hop Bichat Claude Bernard, AP HP, INSERM, U1152,Lab Anatomopathol, Paris, France
[7] Serv Oncol Thorac, Paris, France
[8] Hop Bichat Claude Bernard, AP HP, INSERM, U1152,CIC1425, Paris, France
[9] Hop Bichat Claude Bernard, AP HP, INSERM, U1152,Lab Physiol, Paris, France
[10] Hop Bichat Claude Bernard, AP HP, INSERM, U1152,Serv Radiol, Paris, France
关键词
BENIGN HEREDITARY CHOREA; DISEASE;
D O I
10.1183/23120541.00356-2021
中图分类号
R56 [呼吸系及胸部疾病];
学科分类号
摘要
引用
收藏
页数:4
相关论文
共 50 条
  • [1] A Mutation in TTF1/NKX2.1 Is Associated With Familial Neuroendocrine Cell Hyperplasia of Infancy
    Young, Lisa R.
    Deutsch, Gail H.
    Bokulic, Ronald E.
    Brody, Alan S.
    Nogee, Lawrence M.
    CHEST, 2013, 144 (04) : 1199 - 1206
  • [2] A Mutation In Ttf1/nkx2.1 Is Associated With Familial Neuroendocine Cell Hyperplasia Of Infancy (nehi)
    Young, L. R.
    Deutsch, G. H.
    Bokulic, R.
    Nogee, L. M.
    AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2013, 187
  • [3] New TTF1/NKX2.1 mutation in a child with congenital hypothyroidism and neurodevelopment delay
    Passoni, Arianna
    Cortinovis, Francesca
    Rabbiosi, Sarah
    Maina, Ludovica
    Zamproni, Ilaria
    Vigone, Maria Cristina
    De Filippis, Tiziana
    Marelli, Federica
    Persani, Luca
    Weber, Giovanna
    Chiumello, Giuseppe
    HORMONE RESEARCH, 2009, 72 : 460 - 460
  • [4] Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case
    Carre, Aurore
    Szinnai, Gabor
    Castanet, Mireille
    Sura-Trueba, Sylvia
    Tron, Elodie
    Broutin-L'Hermite, Isabelle
    Barat, Pascal
    Goizet, Cyril
    Lacombe, Didier
    Moutard, Marie-Laure
    Raybaud, Christine
    Raynaud-Ravni, Catherine
    Romana, Serge
    Ythier, Hubert
    Leger, Juliane
    Polak, Michel
    HUMAN MOLECULAR GENETICS, 2009, 18 (12) : 2266 - 2276
  • [5] NKX2.1 run-on mutation associated to familial brain-lung-thyroid syndrome
    Cavaliere, Elena
    Gortan, Anna Jolanda
    Passon, Nadia
    Fabbro, Dora
    Marin, Dario
    Carecchio, Miryam
    Baldan, Federica
    Credendino, Sara Carmela
    Gallo, Rosa
    Cogo, Paola
    Damante, Giuseppe
    De Vita, Gabriella
    CLINICAL GENETICS, 2021, 100 (01) : 114 - 116
  • [6] Respiratory Insufficiency in a Newborn With Congenital Hypothyroidism Due To a New Mutation of TTF-1/NKX2.1 Gene
    Salerno, Teresa
    Peca, Donatella
    Menchini, Laura
    Schiavino, Alessandra
    Petreschi, Francesca
    Occasi, Francesca
    Cogo, Paola
    Danhaive, Olivier
    Cutrera, Renato
    PEDIATRIC PULMONOLOGY, 2014, 49 (03) : E42 - E44
  • [7] TTF-1/Nkx2.1 functional connection with mutated EGFR relies on LRIG1 and β-catenin pathways in lung cancer cells
    Zamboni, Michela
    Civitareale, Donato
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2018, 505 (04) : 1027 - 1031
  • [8] TTF-1/NKX2.1 up-regulates the in vivo transcription of nestin
    Pelizzoi, Roberta
    Tacchett, Carlo
    Luzzi, Paola
    Strangio, Antonella
    Bellese, Grazia
    Zappia, Emanuela
    Guazzi, Stefania
    INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY, 2008, 52 (01): : 55 - 62
  • [9] Thyroid transcription factor-1 (TTF-1/Nkx2.1/TITF1) gene regulation in the lung
    Boggaram, Vijay
    CLINICAL SCIENCE, 2009, 116 (1-2) : 27 - 35
  • [10] Persistent Lung Disease in Adults with NKX2.1 Mutation and Familial Neuroendocrine Cell Hyperplasia of Infancy
    Nevel, Rebekah J.
    Garnett, Errine T.
    Worrell, John A.
    Morton, Ronald L.
    Nogee, Lawrence M.
    Blackwell, Timothy S.
    Young, Lisa R.
    ANNALS OF THE AMERICAN THORACIC SOCIETY, 2016, 13 (08) : 1299 - 1304