Mutations in the Gene EncodingThyroid Transcription Factor-1 (TTF-1) Are Not a Frequent Cause of Congenital Hypothyroidism (CH) with Thyroid Dysgenesis

Thyroid ◽  
1997 ◽  
Vol 7 (3) ◽  
pp. 383-387 ◽  
Author(s):  
PAOLA LAPI ◽  
PAOLO EMIDIO MACCHIA ◽  
LUCA CHIOVATO ◽  
ELIO BIFFALI ◽  
LIDIA MOSCHINI ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Congenital Hypothyroidism ◽  
Thyroid Dysgenesis ◽  
Transcription Factor 1

Absence of Mutations in the Gene EncodingThyroid Transcription Factor-1 (TTF-1) in Patients with Thyroid Dysgenesis

Thyroid ◽  
1997 ◽  
Vol 7 (3) ◽  
pp. 377-381 ◽  
Author(s):  
MARIA GRAZIA PERNA ◽  
DONATO CIVITAREALE ◽  
VITO DE FILIPPIS ◽  
MICHELE SACCO ◽  
CARMELA CISTERNINO ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Thyroid Dysgenesis ◽  
Transcription Factor 1

Sequence Analysis of Thyroid Transcription Factor-2 (TTF-2) Gene in Ten Patients with Congenital Hypothyroidism due to Thyroid Dysgenesis.

2000 ◽  
Vol 9 (1) ◽  
pp. 37-40
Author(s):  
Takeo Kuribayashi ◽  
Akira Hishinuma ◽  
Sanae Kanazawa ◽  
Yuko Nihei ◽  
Megumi Hoshi ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Sequence Analysis ◽  
Congenital Hypothyroidism ◽  
Thyroid Dysgenesis ◽  
Thyroid Transcription Factor

scholarly journals Mutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesis

2010 ◽  
Vol 54 (6) ◽  
pp. 555-559 ◽  
Author(s):  
Frouzandeh Mahjoubi ◽  
Mona Malek Mohammadi ◽  
Maryam Montazeri ◽  
Masoud Aminii ◽  
Mahin Hashemipour
Keyword(s):  
Transcription Factor ◽  
Congenital Hypothyroidism ◽  
Single Strand Conformation Polymorphism ◽  
Clinical Tests ◽  
Gene Encoding ◽  
Thyroid Dysgenesis ◽  
Pax8 Gene ◽  
And Function ◽  
Conformation Polymorphism ◽  
Iranian Patients

OBJECTIVE: Congenital hypothyroidism (CH) may be caused by defects in the thyroid or in one of the stages in the synthesis of thyroid hormones. Thyroid dysgenesis may be associated with mutation in the paired box transcription factor 8 (PAX8) gene. We attempted to screen PAX8 gene mutation in 50 CH patients with thyroid dysgenesis. SUBJECTS AND METHODS: The patients were classified in two groups as agenesis and ectopic based on biochemical and para clinical tests. By employing PCR, Single Strand Conformation Polymorphism (SSCP) and sequencing, exons 3 to 12 of PAX8 gene with their exon-intron boundaries were studied. RESULTS: No mutation was found in these patients in any of the exons. CONCLUSION: Our results, once again, indicate that the PAX8 mutation rate is very low and can only explain a minority of the cases. Therefore, it is highly needed to further investigate the genes controlling development and function of thyroid.

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