NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "brain-lung-thyroid syndrome"

Human Mutation

Volumn 31, Issue 2, 2010, Pages

  Guillot, Loïc ^a   Carré, Aurore ^b   Szinnai, Gabor ^c   Castanet, Mireille ^b,d   Tron, Elodie ^b   Jaubert, Francis ^d   Broutin, Isabelle ^e   Counil, François ^f   Feldmann, Delphine ^g   Clement, Annick ^a,g   Polak, Michel ^b,d   Epaud, Ralph ^a,g  

^a CENTRE DE RECHERCHE SAINT ANTOINE   (France)

^b INSERM   (France)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e UNIVERSITÉ PARIS DESCARTES   (France)

^f HÔPITAL ARNAUD DE VILLENEUVE   (France)

^g ARMAND TROUSSEAU HOSPITAL   (France)

Author keywords

Interstitial lung disease; Lung; NKX2 1; Surfactant protein; Thyroid

Indexed keywords

HYDROXYCHLOROQUINE; METHYLPREDNISOLONE; PREDNISOLONE; STEROID; SURFACTANT PROTEIN B; SURFACTANT PROTEIN C; TRANSCRIPTION FACTOR NKX2.1; TRANSCRIPTION FACTOR NKX2.2; UNCLASSIFIED DRUG;

ARTICLE; BRAIN LUNG THYROID SYNDROME; CONGENITAL HYPOTHYROIDISM; CONTROLLED STUDY; FEMALE; GENE ACTIVATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; IN VITRO STUDY; INTERSTITIAL LUNG DISEASE; LUNG LAVAGE; MUSCLE HYPOTONIA; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN METABOLISM; SYNDROME; WESTERN BLOTTING; WILD TYPE;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; BASE SEQUENCE; BRONCHOALVEOLAR LAVAGE FLUID; CELL LINE, TUMOR; CHILD; CHILD, PRESCHOOL; DNA; FATAL OUTCOME; FEMALE; GENE EXPRESSION REGULATION; HUMANS; INFANT; INFANT, NEWBORN; LUNG DISEASES, INTERSTITIAL; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; NUCLEAR PROTEINS; ORGAN SPECIFICITY; PREGNANCY; PROMOTER REGIONS, GENETIC; PROTEIN BINDING; PULMONARY SURFACTANT-ASSOCIATED PROTEINS; SYNDROME; THYROID GLAND; TRANSCRIPTION FACTORS;

EID: 75149175193     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21183     Document Type: Article

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