Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism - Narumi, Satoshi; Araki, Shunsuke; Hori, Naoaki; Muroya, Koji; Yamamoto, Yukiyo; Asakura, Yumi; Adachi, Masanori; Hasegawa, Tomonobu (European journal of endocrinology, 2012)
Keywords: Adult; Biological and medical sciences; Blotting, Western; Cell Culture Techniques; Child; Child, Preschool; Clinical Study; Congenital Hypothyroidism - diagnostic imaging; Congenital Hypothyroidism - genetics; Electrophoretic Mobility Shift Assay; Endocrinopathies; Female; Frameshift Mutation; Fundamental and applied biological sciences. Psychology; Haploinsufficiency; Humans; Infant; Male; Medical sciences; Mutation; Mutation, Missense; Non tumoral diseases. Target tissue resistance. Benign neoplasms; Paired Box Transcription Factors - genetics; PAX8 Transcription Factor; Plasmids; Thyroid Dysgenesis - genetics; Thyroid Gland - cytology; Thyroid Gland - diagnostic imaging; Thyroid Gland - metabolism; Thyroid. Thyroid axis (diseases); Transcriptional Activation; Transfection; Ultrasonography; Vertebrates: endocrinology; Endocrinopathy; Characterization; Endocrine gland; Congenital; Thyroid diseases; Thyroid gland; Mutation; Hypothyroidism; Congenital disease; Endocrinology; Mechanism