Missense mutation in the transcription factor NKX2-5: A novel molecular event in the pathogenesis of thyroid dysgenesis

Journal of Clinical Endocrinology and Metabolism

Volumn 91, Issue 4, 2006, Pages 1428-1433

  Dentice, Monica ^a   Cordeddu, Viviana ^b   Rosica, Annamaria ^c   Ferrara, Alfonso Massimiliano ^a   Santarpia, Libero ^a,i   Salvatore, Domenico ^a   Chiovato, Luca ^d   Perri, Anna ^e   Moschini, Lidia ^f   Fazzini, Cristina ^b   Olivieri, Antonella ^b   Costa, Pietro ^f   Stoppioni, Vera ^g   Baserga, Mariangiola ^h   De Felice, Mario ^c   Sorcini, Mariella ^b   Fenzi, Gianfranco ^a   Di Lauro, Roberto ^a,c   Tartaglia, Marco ^b   Macchia, Paolo Emidio ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^c CEINGE BIOTECNOLOGIE AVANZATE   (Italy)

^d San Matteo Medical Center   (Italy)

^e UNIVERSITY OF PISA   (Italy)

^f SAPIENZA UNIVERSITY OF ROME   (Italy)

^g S CROCE E CARLE HOSPITAL   (Italy)

^h Dipartimento di Medicina Sperimentale e Clinica Cattedra di Chirurgia Vasculare Università degli studi di Catanzaro Magna Grecia   (Italy)

ⁱ Dipartimento Clinico Sperimentale di Medicina e Farmacologia   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

THYROID TRANSCRIPTION FACTOR 1; DNA; HOMEODOMAIN PROTEIN; IODIDE PEROXIDASE; MESSENGER RNA; NKX2 5 PROTEIN, HUMAN; NKX2-5 PROTEIN, HUMAN; THYROGLOBULIN; TRANSCRIPTION FACTOR;

ADOLESCENT; ADULT; ARTICLE; CHILD; CONTROLLED STUDY; DNA BINDING; FEMALE; GENE IDENTIFICATION; GENETIC SCREENING; GENETIC TRAIT; HUMAN; HYPOPLASIA; MAJOR CLINICAL STUDY; MALE; MEDICAL ASSESSMENT; MISSENSE MUTATION; ORGANOGENESIS; PHENOTYPE; PRIORITY JOURNAL; THYROID DISEASE; TRANSACTIVATION; BIOSYNTHESIS; CONGENITAL HYPOTHYROIDISM; GENETICS; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; METABOLISM; PHYSIOLOGY; THYROID GLAND;

CONGENITAL HYPOTHYROIDISM; DNA; HOMEODOMAIN PROTEINS; HUMANS; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; IODIDE PEROXIDASE; MUTATION, MISSENSE; PHENOTYPE; RNA, MESSENGER; THYROGLOBULIN; THYROID GLAND; TRANSCRIPTION FACTORS;

EID: 33646034932     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2005-1350     Document Type: Article

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