Identification and functional characterization of a novel mutation in the NKX2-1 gene: Comparison with the data in the literature

Thyroid

Volumn 23, Issue 6, 2013, Pages 675-682

  Nettore, Immacolata Cristina ^a   Mirra, Paola ^a   Ferrara, Alfonso Massimiliano ^a   Sibilio, Annarita ^a   Pagliara, Valentina ^a   Kay, Claudia Suemi Kamoi ^b   Lorenzoni, Paulo Josè ^b   Werneck, Lineu Cesar ^b   Bruck, Isac ^b   Dos Santos, Lucia Helena Coutinho ^b   Beguinot, Francesco ^a   Salvatore, Domenico ^a   Ungaro, Paola ^a   Fenzi, Gianfranco ^a   Scola, Rosana Herminia ^b   Macchia, Paolo Emidio ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b FEDERAL UNIVERSITY OF PARANÁ   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; GENOMIC DNA; SURFACTANT PROTEIN C; THYROGLOBULIN; THYROTROPIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR NKX2.1; UNCLASSIFIED DRUG; NUCLEAR LOCALIZATION SIGNAL; NUCLEAR PROTEIN; RECOMBINANT PROTEIN; STOP CODON; THYROID NUCLEAR FACTOR 1;

ARTICLE; BRAIN THYROID LUNG SYNDROME; CELL STRAIN HEK293; CEREBELLAR ATAXIA; DEVELOPMENTAL DISORDER; DNA BINDING; ENDOCRINE DISEASE; EXPRESSION VECTOR; GEL MOBILITY SHIFT ASSAY; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HELA CELL; HUMAN CELL CULTURE; IN VITRO STUDY; LUNG DISEASE; MOTOR DEVELOPMENT; MUTAGENESIS; NUCLEAR LOCALIZATION SIGNAL; PRIORITY JOURNAL; RESPIRATORY FAILURE; STOP CODON; SUBCLINICAL HYPOTHYROIDISM; THYROID FUNCTION TEST; THYROTROPIN BLOOD LEVEL; ADOLESCENT; ANTIBODY SPECIFICITY; ATHETOSIS; CASE REPORT; CHOREA; CONGENITAL HYPOTHYROIDISM; FEMALE; FRAMESHIFT MUTATION; GENETICS; HEK293 CELL LINE; HELA CELL LINE; HUMAN; MALE; METABOLISM; MOTHER; NEONATAL RESPIRATORY DISTRESS SYNDROME; SIBLING;

ADOLESCENT; ATHETOSIS; CHOREA; CODON, TERMINATOR; CONGENITAL HYPOTHYROIDISM; FEMALE; FRAMESHIFT MUTATION; HEK293 CELLS; HELA CELLS; HUMANS; MALE; MOTHERS; NUCLEAR LOCALIZATION SIGNALS; NUCLEAR PROTEINS; ORGAN SPECIFICITY; RECOMBINANT PROTEINS; RESPIRATORY DISTRESS SYNDROME, NEWBORN; SIBLINGS; TRANSCRIPTION FACTORS;

EID: 84878872683     PISSN: 10507256     EISSN: 15579077     Source Type: Journal    
DOI: 10.1089/thy.2012.0267     Document Type: Article

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