Mutations in the thyroid transcription factor gene NKX2-1 result in decreased expression of SFTPB and SFTPC

Pediatric Research

Volumn 84, Issue 3, 2018, Pages 419-425

  Attarian, Stephanie J ^a   Leibel, Sandra L ^b   Yang, Ping ^a   Alfano, Danielle N ^c   Hackett, Brian P ^a   Cole, F Sessions ^a   Hamvas, Aaron ^d  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^c UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^d NORTHWESTERN UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LEVOTHYROXINE; MUTANT PROTEIN; NK2 HOMEOBOX 1; STEROID; SURFACTANT; SURFACTANT PROTEIN B; SURFACTANT PROTEIN C; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; HOMEOBOX PROTEIN NKX 2.1; NKX2-1 PROTEIN, HUMAN; PROTEIN BINDING; SFTPC PROTEIN, HUMAN;

A-549 CELL LINE; ADOLESCENT; ARTICLE; ARTIFICIAL VENTILATION; ATTENTION DEFICIT DISORDER; BRONCHIOLITIS OBLITERANS; CASE REPORT; CHILD; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; DNA BINDING; ELECTRON MICROSCOPY; EXPRESSION VECTOR; GEL MOBILITY SHIFT ASSAY; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; HYPERPLASIA; HYPOTHYROIDISM; IMMUNOHISTOCHEMISTRY; IN VITRO STUDY; INTERSTITIAL LUNG DISEASE; LUNG ALVEOLUS CELL; LUNG BIOPSY; LUNG TRANSPLANTATION; MALE; MISSENSE MUTATION; MOTOR DYSFUNCTION; OLIGONUCLEOTIDE PROBE; OXYGEN THERAPY; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; PULMONARY HYPERTENSION; PULMONARY VEIN STENOSIS; PYLOROPLASTY; REAL TIME POLYMERASE CHAIN REACTION; RESPIRATORY DISTRESS SYNDROME; RESPIRATORY FAILURE; RESPIRATORY SYNCYTIAL VIRUS INFECTION; RESPIRATORY TRACT INTUBATION; RETROSPECTIVE STUDY; SEQUENCE ANALYSIS; STEROID THERAPY; STOMACH FUNDOPLICATION; SYSTEMIC THERAPY; THORAX RADIOGRAPHY; TRANSACTIVATION; TRANSCRIPTION INITIATION; TRANSIENT TRANSFECTION; EXON; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENETICS; HOMEOBOX; MUTATION; PHENOTYPE; SITE DIRECTED MUTAGENESIS; TUMOR CELL LINE;

A549 CELLS; ADOLESCENT; CELL LINE, TUMOR; CHILD, PRESCHOOL; EXONS; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENES, HOMEOBOX; HUMANS; MALE; MUTAGENESIS, SITE-DIRECTED; MUTATION; PHENOTYPE; PROMOTER REGIONS, GENETIC; PROTEIN BINDING; PULMONARY SURFACTANT-ASSOCIATED PROTEIN B; PULMONARY SURFACTANT-ASSOCIATED PROTEIN C; RETROSPECTIVE STUDIES; THYROID NUCLEAR FACTOR 1; TRANSCRIPTIONAL ACTIVATION;

EID: 85057222300     PISSN: 00313998     EISSN: 15300447     Source Type: Journal    
DOI: 10.1038/pr.2018.30     Document Type: Article

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